Incidental Mutation 'R4888:Kmt2a'
| ID |
377109 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kmt2a
|
| Ensembl Gene |
ENSMUSG00000002028 |
| Gene Name |
lysine (K)-specific methyltransferase 2A |
| Synonyms |
Mll, ALL-1, Mll1, Cxxc7, All1, HTRX1, trithorax Drosophila |
| MMRRC Submission |
042493-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4888 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
44714652-44792594 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
G to T
at 44732977 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002095]
[ENSMUST00000114689]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
unknown
Transcript: ENSMUST00000002095
AA Change: P2444T
|
| SMART Domains |
Protein: ENSMUSP00000002095
Gene: ENSMUSG00000002028
AA Change: P2444T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
14 |
29 |
N/A |
INTRINSIC |
|
low complexity region
|
41 |
102 |
N/A |
INTRINSIC |
|
PDB:3U88|N
|
103 |
151 |
6e-15 |
PDB |
|
AT_hook
|
171 |
183 |
2.12e2 |
SMART |
|
AT_hook
|
217 |
229 |
4.68e1 |
SMART |
|
AT_hook
|
298 |
310 |
2.8e0 |
SMART |
|
coiled coil region
|
366 |
394 |
N/A |
INTRINSIC |
|
low complexity region
|
450 |
489 |
N/A |
INTRINSIC |
|
low complexity region
|
524 |
535 |
N/A |
INTRINSIC |
|
low complexity region
|
544 |
574 |
N/A |
INTRINSIC |
|
low complexity region
|
589 |
601 |
N/A |
INTRINSIC |
|
low complexity region
|
660 |
674 |
N/A |
INTRINSIC |
|
low complexity region
|
717 |
732 |
N/A |
INTRINSIC |
|
low complexity region
|
760 |
790 |
N/A |
INTRINSIC |
|
low complexity region
|
866 |
892 |
N/A |
INTRINSIC |
|
low complexity region
|
989 |
1005 |
N/A |
INTRINSIC |
|
Pfam:zf-CXXC
|
1144 |
1191 |
1.1e-15 |
PFAM |
|
low complexity region
|
1204 |
1233 |
N/A |
INTRINSIC |
|
low complexity region
|
1236 |
1283 |
N/A |
INTRINSIC |
|
low complexity region
|
1295 |
1316 |
N/A |
INTRINSIC |
|
low complexity region
|
1323 |
1345 |
N/A |
INTRINSIC |
|
low complexity region
|
1353 |
1366 |
N/A |
INTRINSIC |
|
PHD
|
1432 |
1479 |
5.57e-3 |
SMART |
|
PHD
|
1480 |
1530 |
1.17e-10 |
SMART |
|
PHD
|
1567 |
1624 |
7.94e-8 |
SMART |
|
BROMO
|
1632 |
1766 |
2.24e-10 |
SMART |
|
low complexity region
|
1816 |
1850 |
N/A |
INTRINSIC |
|
PHD
|
1931 |
1977 |
1.74e-4 |
SMART |
|
low complexity region
|
1990 |
2001 |
N/A |
INTRINSIC |
|
FYRN
|
2029 |
2072 |
2.33e-20 |
SMART |
|
low complexity region
|
2180 |
2194 |
N/A |
INTRINSIC |
|
low complexity region
|
2215 |
2227 |
N/A |
INTRINSIC |
|
low complexity region
|
2607 |
2618 |
N/A |
INTRINSIC |
|
low complexity region
|
2789 |
2800 |
N/A |
INTRINSIC |
|
low complexity region
|
2824 |
2833 |
N/A |
INTRINSIC |
|
low complexity region
|
2856 |
2878 |
N/A |
INTRINSIC |
|
low complexity region
|
2902 |
2909 |
N/A |
INTRINSIC |
|
low complexity region
|
3115 |
3141 |
N/A |
INTRINSIC |
|
low complexity region
|
3164 |
3175 |
N/A |
INTRINSIC |
|
low complexity region
|
3228 |
3239 |
N/A |
INTRINSIC |
|
low complexity region
|
3299 |
3312 |
N/A |
INTRINSIC |
|
low complexity region
|
3342 |
3351 |
N/A |
INTRINSIC |
|
low complexity region
|
3405 |
3419 |
N/A |
INTRINSIC |
|
low complexity region
|
3498 |
3526 |
N/A |
INTRINSIC |
|
low complexity region
|
3620 |
3633 |
N/A |
INTRINSIC |
|
FYRC
|
3662 |
3747 |
8.54e-37 |
SMART |
|
SET
|
3823 |
3945 |
6.09e-45 |
SMART |
|
PostSET
|
3947 |
3963 |
1.65e-4 |
SMART |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000114689
AA Change: P2447T
|
| SMART Domains |
Protein: ENSMUSP00000110337
Gene: ENSMUSG00000002028
AA Change: P2447T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
14 |
29 |
N/A |
INTRINSIC |
|
low complexity region
|
41 |
102 |
N/A |
INTRINSIC |
|
PDB:3U88|N
|
103 |
151 |
6e-15 |
PDB |
|
AT_hook
|
171 |
183 |
2.12e2 |
SMART |
|
AT_hook
|
217 |
229 |
4.68e1 |
SMART |
|
AT_hook
|
298 |
310 |
2.8e0 |
SMART |
|
coiled coil region
|
366 |
394 |
N/A |
INTRINSIC |
|
low complexity region
|
450 |
489 |
N/A |
INTRINSIC |
|
low complexity region
|
524 |
535 |
N/A |
INTRINSIC |
|
low complexity region
|
544 |
574 |
N/A |
INTRINSIC |
|
low complexity region
|
589 |
601 |
N/A |
INTRINSIC |
|
low complexity region
|
660 |
674 |
N/A |
INTRINSIC |
|
low complexity region
|
717 |
732 |
N/A |
INTRINSIC |
|
low complexity region
|
760 |
790 |
N/A |
INTRINSIC |
|
low complexity region
|
866 |
892 |
N/A |
INTRINSIC |
|
low complexity region
|
989 |
1005 |
N/A |
INTRINSIC |
|
Pfam:zf-CXXC
|
1144 |
1191 |
1.1e-15 |
PFAM |
|
low complexity region
|
1204 |
1233 |
N/A |
INTRINSIC |
|
low complexity region
|
1236 |
1283 |
N/A |
INTRINSIC |
|
low complexity region
|
1295 |
1316 |
N/A |
INTRINSIC |
|
low complexity region
|
1323 |
1345 |
N/A |
INTRINSIC |
|
low complexity region
|
1353 |
1366 |
N/A |
INTRINSIC |
|
PHD
|
1432 |
1479 |
5.57e-3 |
SMART |
|
PHD
|
1480 |
1530 |
1.17e-10 |
SMART |
|
PHD
|
1567 |
1627 |
9.12e-8 |
SMART |
|
BROMO
|
1635 |
1769 |
2.24e-10 |
SMART |
|
low complexity region
|
1819 |
1853 |
N/A |
INTRINSIC |
|
PHD
|
1934 |
1980 |
1.74e-4 |
SMART |
|
low complexity region
|
1993 |
2004 |
N/A |
INTRINSIC |
|
FYRN
|
2032 |
2075 |
2.33e-20 |
SMART |
|
low complexity region
|
2183 |
2197 |
N/A |
INTRINSIC |
|
low complexity region
|
2218 |
2230 |
N/A |
INTRINSIC |
|
low complexity region
|
2610 |
2621 |
N/A |
INTRINSIC |
|
low complexity region
|
2792 |
2803 |
N/A |
INTRINSIC |
|
low complexity region
|
2827 |
2836 |
N/A |
INTRINSIC |
|
low complexity region
|
2859 |
2881 |
N/A |
INTRINSIC |
|
low complexity region
|
2905 |
2912 |
N/A |
INTRINSIC |
|
low complexity region
|
3118 |
3144 |
N/A |
INTRINSIC |
|
low complexity region
|
3167 |
3178 |
N/A |
INTRINSIC |
|
low complexity region
|
3231 |
3242 |
N/A |
INTRINSIC |
|
low complexity region
|
3302 |
3315 |
N/A |
INTRINSIC |
|
low complexity region
|
3345 |
3354 |
N/A |
INTRINSIC |
|
low complexity region
|
3408 |
3422 |
N/A |
INTRINSIC |
|
low complexity region
|
3501 |
3529 |
N/A |
INTRINSIC |
|
low complexity region
|
3623 |
3636 |
N/A |
INTRINSIC |
|
FYRC
|
3665 |
3750 |
8.54e-37 |
SMART |
|
SET
|
3826 |
3948 |
6.09e-45 |
SMART |
|
PostSET
|
3950 |
3966 |
1.65e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000138119
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000152241
|
| Meta Mutation Damage Score |
0.0605 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.1%
|
| Validation Efficiency |
99% (150/151) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a transcriptional coactivator that plays an essential role in regulating gene expression during early development and hematopoiesis. The encoded protein contains multiple conserved functional domains. One of these domains, the SET domain, is responsible for its histone H3 lysine 4 (H3K4) methyltransferase activity which mediates chromatin modifications associated with epigenetic transcriptional activation. This protein is processed by the enzyme Taspase 1 into two fragments, MLL-C and MLL-N. These fragments reassociate and further assemble into different multiprotein complexes that regulate the transcription of specific target genes, including many of the HOX genes. Multiple chromosomal translocations involving this gene are the cause of certain acute lymphoid leukemias and acute myeloid leukemias. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Oct 2010]
PHENOTYPE: Homozygotes for targeted null mutations die at embryonic day 11.5-14.5 with edematous bodies, petechiae, and hematopoietic insufficiency. Heterozygotes show reduced growth, hematopoietic abnormalities, and homeotic transformations of the axial skeleton. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 139 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4931403M11Rik |
C |
A |
14: 24,671,419 (GRCm39) |
|
noncoding transcript |
Het |
| Abca7 |
A |
G |
10: 79,838,562 (GRCm39) |
K612R |
probably damaging |
Het |
| Adamtsl3 |
T |
C |
7: 82,223,822 (GRCm39) |
V275A |
possibly damaging |
Het |
| Afg3l1 |
G |
A |
8: 124,215,065 (GRCm39) |
|
probably null |
Het |
| Ajm1 |
G |
A |
2: 25,469,759 (GRCm39) |
R51C |
possibly damaging |
Het |
| Alcam |
T |
A |
16: 52,089,176 (GRCm39) |
H508L |
probably benign |
Het |
| Ankrd45 |
G |
A |
1: 160,982,942 (GRCm39) |
R151H |
probably damaging |
Het |
| Aqr |
G |
A |
2: 113,980,990 (GRCm39) |
L264F |
probably damaging |
Het |
| Arfgef2 |
G |
A |
2: 166,677,533 (GRCm39) |
A53T |
probably damaging |
Het |
| Arhgap30 |
A |
G |
1: 171,236,880 (GRCm39) |
T1085A |
probably benign |
Het |
| Atp10a |
T |
C |
7: 58,435,055 (GRCm39) |
V314A |
probably damaging |
Het |
| Bdp1 |
T |
C |
13: 100,187,627 (GRCm39) |
D1580G |
probably benign |
Het |
| Btbd17 |
T |
A |
11: 114,684,917 (GRCm39) |
T41S |
possibly damaging |
Het |
| Cacna1c |
T |
C |
6: 118,728,400 (GRCm39) |
N378S |
probably damaging |
Het |
| Camsap1 |
G |
T |
2: 25,825,562 (GRCm39) |
Q1375K |
probably benign |
Het |
| Catsper2 |
G |
T |
2: 121,227,604 (GRCm39) |
|
probably null |
Het |
| Cblif |
A |
G |
19: 11,729,583 (GRCm39) |
T181A |
probably benign |
Het |
| Ccar1 |
A |
G |
10: 62,588,997 (GRCm39) |
S829P |
unknown |
Het |
| Ccdc180 |
T |
C |
4: 45,909,308 (GRCm39) |
L492P |
probably damaging |
Het |
| Ccser2 |
A |
T |
14: 36,662,343 (GRCm39) |
N280K |
probably damaging |
Het |
| Cd37 |
T |
C |
7: 44,883,359 (GRCm39) |
D271G |
probably damaging |
Het |
| Cdcp1 |
G |
A |
9: 123,011,194 (GRCm39) |
|
probably benign |
Het |
| Cemip2 |
T |
C |
19: 21,833,528 (GRCm39) |
V1322A |
probably benign |
Het |
| Cep85 |
T |
A |
4: 133,892,062 (GRCm39) |
|
probably benign |
Het |
| Cfi |
C |
T |
3: 129,666,726 (GRCm39) |
P483L |
probably damaging |
Het |
| Csmd1 |
A |
G |
8: 15,945,674 (GRCm39) |
|
probably benign |
Het |
| Cytl1 |
G |
T |
5: 37,892,918 (GRCm39) |
L9F |
unknown |
Het |
| Defb26 |
T |
C |
2: 152,350,085 (GRCm39) |
E65G |
possibly damaging |
Het |
| Degs1 |
G |
A |
1: 182,104,370 (GRCm39) |
T305I |
probably damaging |
Het |
| Dnttip2 |
T |
G |
3: 122,070,241 (GRCm39) |
C485W |
probably damaging |
Het |
| Ecel1 |
G |
A |
1: 87,076,449 (GRCm39) |
|
probably benign |
Het |
| Edrf1 |
G |
T |
7: 133,260,339 (GRCm39) |
M83I |
probably damaging |
Het |
| Elmo2 |
A |
T |
2: 165,137,209 (GRCm39) |
C562S |
probably benign |
Het |
| Etl4 |
T |
A |
2: 20,344,922 (GRCm39) |
|
probably null |
Het |
| F2r |
A |
C |
13: 95,740,905 (GRCm39) |
V210G |
probably damaging |
Het |
| Fam171a1 |
T |
A |
2: 3,224,546 (GRCm39) |
V179E |
probably damaging |
Het |
| Fmod |
G |
T |
1: 133,967,977 (GRCm39) |
V6F |
possibly damaging |
Het |
| Foxr2 |
A |
G |
X: 151,913,312 (GRCm39) |
Q61R |
probably damaging |
Het |
| Gabra4 |
G |
A |
5: 71,729,546 (GRCm39) |
H76Y |
probably benign |
Het |
| Gck |
A |
T |
11: 5,859,150 (GRCm39) |
M139K |
possibly damaging |
Het |
| Gm10192 |
C |
G |
4: 97,071,345 (GRCm39) |
S20T |
probably null |
Het |
| Gm44501 |
T |
C |
17: 40,887,515 (GRCm39) |
L11P |
unknown |
Het |
| Gm572 |
T |
C |
4: 148,751,302 (GRCm39) |
|
probably null |
Het |
| Gnas |
A |
G |
2: 174,139,882 (GRCm39) |
K17R |
possibly damaging |
Het |
| Grm2 |
T |
A |
9: 106,527,865 (GRCm39) |
S340C |
probably damaging |
Het |
| Gsc |
T |
A |
12: 104,438,274 (GRCm39) |
H198L |
probably damaging |
Het |
| H2-Q3 |
A |
T |
17: 35,578,424 (GRCm39) |
|
noncoding transcript |
Het |
| H4c1 |
T |
C |
13: 23,944,935 (GRCm39) |
D69G |
probably damaging |
Het |
| Hivep3 |
A |
G |
4: 119,980,131 (GRCm39) |
E1723G |
probably damaging |
Het |
| Hk3 |
A |
T |
13: 55,154,405 (GRCm39) |
L757Q |
probably damaging |
Het |
| Homer2 |
A |
T |
7: 81,299,311 (GRCm39) |
D51E |
probably benign |
Het |
| Ier3ip1 |
T |
A |
18: 77,027,227 (GRCm39) |
|
probably benign |
Het |
| Itch |
T |
A |
2: 155,059,897 (GRCm39) |
|
probably null |
Het |
| Kalrn |
T |
A |
16: 33,991,700 (GRCm39) |
Q974L |
probably damaging |
Het |
| Kirrel3 |
G |
T |
9: 34,924,601 (GRCm39) |
G296W |
probably damaging |
Het |
| Klhl17 |
A |
G |
4: 156,315,082 (GRCm39) |
V525A |
probably benign |
Het |
| Klhl9 |
T |
C |
4: 88,640,182 (GRCm39) |
K20E |
probably benign |
Het |
| Krt17 |
C |
A |
11: 100,147,305 (GRCm39) |
V409L |
probably benign |
Het |
| Lmx1b |
T |
C |
2: 33,454,802 (GRCm39) |
N322S |
probably benign |
Het |
| Lrrc63 |
G |
C |
14: 75,363,406 (GRCm39) |
P242A |
probably benign |
Het |
| Ltk |
T |
C |
2: 119,583,708 (GRCm39) |
N256D |
probably damaging |
Het |
| Map3k19 |
T |
A |
1: 127,745,470 (GRCm39) |
E1328V |
probably damaging |
Het |
| Map4k2 |
C |
T |
19: 6,394,033 (GRCm39) |
A280V |
probably benign |
Het |
| Micall1 |
C |
T |
15: 79,016,048 (GRCm39) |
R802* |
probably null |
Het |
| Mmp14 |
A |
G |
14: 54,673,662 (GRCm39) |
R109G |
probably damaging |
Het |
| Mmp27 |
A |
T |
9: 7,581,369 (GRCm39) |
H544L |
probably benign |
Het |
| Mpeg1 |
A |
G |
19: 12,440,434 (GRCm39) |
T631A |
probably damaging |
Het |
| Mpnd |
A |
G |
17: 56,318,641 (GRCm39) |
M217V |
probably benign |
Het |
| Mrc2 |
T |
C |
11: 105,232,034 (GRCm39) |
V862A |
probably damaging |
Het |
| Mug2 |
T |
A |
6: 122,058,154 (GRCm39) |
S1239T |
probably damaging |
Het |
| Myb |
T |
A |
10: 21,002,137 (GRCm39) |
M616L |
probably benign |
Het |
| Myo18b |
A |
T |
5: 113,022,346 (GRCm39) |
|
probably benign |
Het |
| Myo1c |
C |
A |
11: 75,560,053 (GRCm39) |
T703N |
probably damaging |
Het |
| Myt1l |
T |
G |
12: 29,936,138 (GRCm39) |
C909G |
unknown |
Het |
| Nbea |
T |
C |
3: 55,912,776 (GRCm39) |
S1004G |
possibly damaging |
Het |
| Neb |
T |
C |
2: 52,186,319 (GRCm39) |
N918D |
probably benign |
Het |
| Nrtn |
T |
C |
17: 57,058,636 (GRCm39) |
T122A |
probably damaging |
Het |
| Nsd3 |
A |
T |
8: 26,188,939 (GRCm39) |
S1042C |
probably damaging |
Het |
| Ntmt2 |
A |
T |
1: 163,530,633 (GRCm39) |
C269S |
probably benign |
Het |
| Nvl |
A |
G |
1: 180,945,191 (GRCm39) |
L461S |
probably damaging |
Het |
| Onecut2 |
A |
T |
18: 64,473,998 (GRCm39) |
H183L |
possibly damaging |
Het |
| Or13p5 |
A |
C |
4: 118,591,885 (GRCm39) |
H53P |
probably benign |
Het |
| Or2h2 |
G |
A |
17: 37,396,343 (GRCm39) |
T238I |
probably damaging |
Het |
| Or4d10 |
C |
G |
19: 12,051,679 (GRCm39) |
G106R |
probably damaging |
Het |
| Or52e4 |
A |
G |
7: 104,705,689 (GRCm39) |
T79A |
possibly damaging |
Het |
| Or5c1 |
T |
G |
2: 37,222,601 (GRCm39) |
F281V |
probably damaging |
Het |
| Or6c1b |
A |
C |
10: 129,273,248 (GRCm39) |
D189A |
possibly damaging |
Het |
| Or6z5 |
A |
T |
7: 6,477,612 (GRCm39) |
I168F |
probably damaging |
Het |
| Pcdhb21 |
G |
T |
18: 37,648,130 (GRCm39) |
V420F |
possibly damaging |
Het |
| Pcdhb9 |
G |
A |
18: 37,536,286 (GRCm39) |
G760D |
probably benign |
Het |
| Pglyrp2 |
G |
A |
17: 32,637,771 (GRCm39) |
P86S |
probably benign |
Het |
| Phyhip |
T |
A |
14: 70,704,765 (GRCm39) |
V328E |
probably damaging |
Het |
| Pitpnb |
A |
T |
5: 111,530,862 (GRCm39) |
K218N |
possibly damaging |
Het |
| Pitrm1 |
A |
G |
13: 6,628,596 (GRCm39) |
D963G |
probably damaging |
Het |
| Pmfbp1 |
A |
G |
8: 110,258,792 (GRCm39) |
Y699C |
probably damaging |
Het |
| Pmpcb |
T |
A |
5: 21,945,660 (GRCm39) |
|
probably benign |
Het |
| Polg |
A |
T |
7: 79,114,353 (GRCm39) |
W203R |
probably damaging |
Het |
| Pramel22 |
A |
G |
4: 143,380,971 (GRCm39) |
S351P |
probably benign |
Het |
| Prss41 |
A |
T |
17: 24,055,977 (GRCm39) |
M252K |
probably benign |
Het |
| Prss46 |
A |
T |
9: 110,673,618 (GRCm39) |
M1L |
possibly damaging |
Het |
| Rimklb |
T |
C |
6: 122,441,051 (GRCm39) |
|
probably null |
Het |
| Rngtt |
T |
C |
4: 33,500,335 (GRCm39) |
I556T |
unknown |
Het |
| Rock1 |
A |
C |
18: 10,122,698 (GRCm39) |
D374E |
probably benign |
Het |
| Rspry1 |
C |
A |
8: 95,385,417 (GRCm39) |
H450N |
probably benign |
Het |
| Rusc2 |
T |
C |
4: 43,423,942 (GRCm39) |
V1032A |
probably damaging |
Het |
| Sacs |
A |
G |
14: 61,449,647 (GRCm39) |
R3898G |
probably damaging |
Het |
| Scnn1b |
A |
T |
7: 121,502,110 (GRCm39) |
H256L |
probably benign |
Het |
| Sh3gl2 |
T |
A |
4: 85,297,494 (GRCm39) |
H157Q |
probably benign |
Het |
| Sipa1l1 |
C |
A |
12: 82,389,107 (GRCm39) |
S444R |
probably damaging |
Het |
| Sntg1 |
T |
A |
1: 8,433,818 (GRCm39) |
I478F |
probably damaging |
Het |
| Spata31e2 |
A |
G |
1: 26,722,628 (GRCm39) |
Y851H |
probably benign |
Het |
| Sptb |
G |
T |
12: 76,655,811 (GRCm39) |
L1424M |
probably benign |
Het |
| Sry |
T |
A |
Y: 2,663,105 (GRCm39) |
H185L |
unknown |
Het |
| Stox2 |
T |
G |
8: 47,656,198 (GRCm39) |
T93P |
probably damaging |
Het |
| Tatdn2 |
T |
A |
6: 113,681,566 (GRCm39) |
F472Y |
possibly damaging |
Het |
| Tefm |
A |
T |
11: 80,031,185 (GRCm39) |
V17D |
possibly damaging |
Het |
| Tekt2 |
G |
T |
4: 126,218,460 (GRCm39) |
T70N |
probably benign |
Het |
| Ticam1 |
T |
C |
17: 56,578,642 (GRCm39) |
D151G |
probably damaging |
Het |
| Tmem63c |
A |
G |
12: 87,136,139 (GRCm39) |
E785G |
probably damaging |
Het |
| Tnmd |
A |
T |
X: 132,765,551 (GRCm39) |
N219I |
probably benign |
Het |
| Ttc14 |
T |
A |
3: 33,861,024 (GRCm39) |
L407* |
probably null |
Het |
| Ttll7 |
T |
C |
3: 146,599,932 (GRCm39) |
M1T |
probably null |
Het |
| Ttn |
T |
A |
2: 76,746,835 (GRCm39) |
|
probably null |
Het |
| Uchl1 |
T |
C |
5: 66,833,780 (GRCm39) |
M12T |
probably benign |
Het |
| Uggt2 |
A |
T |
14: 119,315,062 (GRCm39) |
|
probably null |
Het |
| Uggt2 |
T |
C |
14: 119,286,665 (GRCm39) |
T224A |
probably damaging |
Het |
| Umodl1 |
A |
G |
17: 31,218,175 (GRCm39) |
E1254G |
probably damaging |
Het |
| Unc5d |
A |
G |
8: 29,156,927 (GRCm39) |
F773L |
probably benign |
Het |
| Unc80 |
C |
A |
1: 66,683,606 (GRCm39) |
P2216Q |
probably damaging |
Het |
| Usp40 |
T |
A |
1: 87,913,923 (GRCm39) |
|
probably null |
Het |
| Vmn1r117 |
A |
T |
7: 20,617,421 (GRCm39) |
M209K |
probably damaging |
Het |
| Vmn2r44 |
A |
T |
7: 8,380,985 (GRCm39) |
W303R |
probably benign |
Het |
| Wnk2 |
G |
A |
13: 49,224,478 (GRCm39) |
R268C |
probably damaging |
Het |
| Wnt2 |
T |
C |
6: 18,023,125 (GRCm39) |
K175E |
possibly damaging |
Het |
| Xkr6 |
T |
C |
14: 64,056,953 (GRCm39) |
V288A |
unknown |
Het |
| Zfp125 |
A |
G |
12: 20,950,459 (GRCm39) |
|
noncoding transcript |
Het |
| Zfp512b |
A |
C |
2: 181,228,856 (GRCm39) |
V703G |
probably damaging |
Het |
| Zglp1 |
A |
T |
9: 20,973,957 (GRCm39) |
I243N |
probably benign |
Het |
| Zgpat |
T |
C |
2: 181,020,651 (GRCm39) |
S275P |
probably benign |
Het |
|
| Other mutations in Kmt2a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00492:Kmt2a
|
APN |
9 |
44,719,231 (GRCm39) |
unclassified |
probably benign |
|
|
IGL00667:Kmt2a
|
APN |
9 |
44,735,683 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL00828:Kmt2a
|
APN |
9 |
44,732,073 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01080:Kmt2a
|
APN |
9 |
44,720,389 (GRCm39) |
missense |
unknown |
|
|
IGL01131:Kmt2a
|
APN |
9 |
44,732,467 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01294:Kmt2a
|
APN |
9 |
44,731,594 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01432:Kmt2a
|
APN |
9 |
44,720,393 (GRCm39) |
missense |
unknown |
|
|
IGL01646:Kmt2a
|
APN |
9 |
44,736,781 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL01777:Kmt2a
|
APN |
9 |
44,760,302 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01944:Kmt2a
|
APN |
9 |
44,761,064 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02125:Kmt2a
|
APN |
9 |
44,759,983 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02207:Kmt2a
|
APN |
9 |
44,758,979 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02424:Kmt2a
|
APN |
9 |
44,735,932 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL02499:Kmt2a
|
APN |
9 |
44,741,806 (GRCm39) |
splice site |
probably benign |
|
|
IGL02574:Kmt2a
|
APN |
9 |
44,741,810 (GRCm39) |
splice site |
probably benign |
|
|
IGL02711:Kmt2a
|
APN |
9 |
44,735,820 (GRCm39) |
splice site |
probably benign |
|
|
IGL02828:Kmt2a
|
APN |
9 |
44,733,244 (GRCm39) |
unclassified |
probably benign |
|
|
IGL03012:Kmt2a
|
APN |
9 |
44,722,263 (GRCm39) |
unclassified |
probably benign |
|
|
IGL03242:Kmt2a
|
APN |
9 |
44,759,689 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03294:Kmt2a
|
APN |
9 |
44,731,862 (GRCm39) |
unclassified |
probably benign |
|
|
IGL03326:Kmt2a
|
APN |
9 |
44,730,044 (GRCm39) |
nonsense |
probably null |
|
|
Chromas
|
UTSW |
9 |
44,731,639 (GRCm39) |
unclassified |
probably benign |
|
|
Heteros
|
UTSW |
9 |
44,740,108 (GRCm39) |
nonsense |
probably null |
|
|
Polonium
|
UTSW |
9 |
44,725,938 (GRCm39) |
nonsense |
probably null |
|
|
Pyknos
|
UTSW |
9 |
44,738,125 (GRCm39) |
utr 3 prime |
probably benign |
|
|
Skies
|
UTSW |
9 |
44,740,558 (GRCm39) |
utr 3 prime |
probably benign |
|
|
spacious
|
UTSW |
9 |
44,758,942 (GRCm39) |
missense |
probably benign |
0.03 |
|
ukrainium
|
UTSW |
9 |
44,753,997 (GRCm39) |
unclassified |
probably benign |
|
|
Uranium
|
UTSW |
9 |
44,761,154 (GRCm39) |
nonsense |
probably null |
|
|
PIT4402001:Kmt2a
|
UTSW |
9 |
44,752,359 (GRCm39) |
missense |
unknown |
|
|
R0076:Kmt2a
|
UTSW |
9 |
44,741,356 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R0076:Kmt2a
|
UTSW |
9 |
44,741,356 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R0180:Kmt2a
|
UTSW |
9 |
44,738,148 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R0363:Kmt2a
|
UTSW |
9 |
44,721,010 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0411:Kmt2a
|
UTSW |
9 |
44,731,261 (GRCm39) |
unclassified |
probably benign |
|
|
R0555:Kmt2a
|
UTSW |
9 |
44,758,868 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0587:Kmt2a
|
UTSW |
9 |
44,758,831 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0865:Kmt2a
|
UTSW |
9 |
44,730,067 (GRCm39) |
unclassified |
probably benign |
|
|
R0988:Kmt2a
|
UTSW |
9 |
44,759,846 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1006:Kmt2a
|
UTSW |
9 |
44,758,993 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1108:Kmt2a
|
UTSW |
9 |
44,760,359 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1292:Kmt2a
|
UTSW |
9 |
44,725,991 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R1322:Kmt2a
|
UTSW |
9 |
44,732,418 (GRCm39) |
unclassified |
probably benign |
|
|
R1476:Kmt2a
|
UTSW |
9 |
44,735,932 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R1485:Kmt2a
|
UTSW |
9 |
44,738,225 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R1487:Kmt2a
|
UTSW |
9 |
44,745,287 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R1493:Kmt2a
|
UTSW |
9 |
44,758,202 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1499:Kmt2a
|
UTSW |
9 |
44,759,563 (GRCm39) |
missense |
probably benign |
0.36 |
|
R1507:Kmt2a
|
UTSW |
9 |
44,729,700 (GRCm39) |
unclassified |
probably benign |
|
|
R1603:Kmt2a
|
UTSW |
9 |
44,752,858 (GRCm39) |
splice site |
probably null |
|
|
R1635:Kmt2a
|
UTSW |
9 |
44,735,666 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R1662:Kmt2a
|
UTSW |
9 |
44,747,967 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R1711:Kmt2a
|
UTSW |
9 |
44,752,918 (GRCm39) |
missense |
unknown |
|
|
R1785:Kmt2a
|
UTSW |
9 |
44,730,972 (GRCm39) |
unclassified |
probably benign |
|
|
R1786:Kmt2a
|
UTSW |
9 |
44,730,972 (GRCm39) |
unclassified |
probably benign |
|
|
R1919:Kmt2a
|
UTSW |
9 |
44,731,642 (GRCm39) |
unclassified |
probably benign |
|
|
R1964:Kmt2a
|
UTSW |
9 |
44,731,941 (GRCm39) |
missense |
probably benign |
0.23 |
|
R1965:Kmt2a
|
UTSW |
9 |
44,732,757 (GRCm39) |
unclassified |
probably benign |
|
|
R2029:Kmt2a
|
UTSW |
9 |
44,729,747 (GRCm39) |
missense |
probably benign |
0.23 |
|
R2054:Kmt2a
|
UTSW |
9 |
44,734,671 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R2259:Kmt2a
|
UTSW |
9 |
44,792,440 (GRCm39) |
unclassified |
probably benign |
|
|
R2382:Kmt2a
|
UTSW |
9 |
44,732,207 (GRCm39) |
unclassified |
probably benign |
|
|
R2483:Kmt2a
|
UTSW |
9 |
44,760,263 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3033:Kmt2a
|
UTSW |
9 |
44,733,160 (GRCm39) |
unclassified |
probably benign |
|
|
R3423:Kmt2a
|
UTSW |
9 |
44,731,394 (GRCm39) |
unclassified |
probably benign |
|
|
R3428:Kmt2a
|
UTSW |
9 |
44,759,416 (GRCm39) |
missense |
probably benign |
0.06 |
|
R3605:Kmt2a
|
UTSW |
9 |
44,760,493 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3607:Kmt2a
|
UTSW |
9 |
44,760,493 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3611:Kmt2a
|
UTSW |
9 |
44,733,763 (GRCm39) |
unclassified |
probably benign |
|
|
R3623:Kmt2a
|
UTSW |
9 |
44,760,263 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3745:Kmt2a
|
UTSW |
9 |
44,742,637 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R3806:Kmt2a
|
UTSW |
9 |
44,731,653 (GRCm39) |
unclassified |
probably benign |
|
|
R3841:Kmt2a
|
UTSW |
9 |
44,742,588 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R3855:Kmt2a
|
UTSW |
9 |
44,741,796 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R4027:Kmt2a
|
UTSW |
9 |
44,747,990 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R4124:Kmt2a
|
UTSW |
9 |
44,731,093 (GRCm39) |
unclassified |
probably benign |
|
|
R4177:Kmt2a
|
UTSW |
9 |
44,732,280 (GRCm39) |
unclassified |
probably benign |
|
|
R4296:Kmt2a
|
UTSW |
9 |
44,732,472 (GRCm39) |
unclassified |
probably benign |
|
|
R4414:Kmt2a
|
UTSW |
9 |
44,721,077 (GRCm39) |
unclassified |
probably benign |
|
|
R4461:Kmt2a
|
UTSW |
9 |
44,760,263 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4668:Kmt2a
|
UTSW |
9 |
44,735,869 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R4761:Kmt2a
|
UTSW |
9 |
44,760,421 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4812:Kmt2a
|
UTSW |
9 |
44,742,651 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R4815:Kmt2a
|
UTSW |
9 |
44,732,553 (GRCm39) |
unclassified |
probably benign |
|
|
R4817:Kmt2a
|
UTSW |
9 |
44,732,763 (GRCm39) |
unclassified |
probably benign |
|
|
R4958:Kmt2a
|
UTSW |
9 |
44,759,764 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5055:Kmt2a
|
UTSW |
9 |
44,729,649 (GRCm39) |
unclassified |
probably benign |
|
|
R5065:Kmt2a
|
UTSW |
9 |
44,753,997 (GRCm39) |
unclassified |
probably benign |
|
|
R5185:Kmt2a
|
UTSW |
9 |
44,731,543 (GRCm39) |
unclassified |
probably benign |
|
|
R5358:Kmt2a
|
UTSW |
9 |
44,730,571 (GRCm39) |
unclassified |
probably benign |
|
|
R5411:Kmt2a
|
UTSW |
9 |
44,759,782 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5420:Kmt2a
|
UTSW |
9 |
44,759,633 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5483:Kmt2a
|
UTSW |
9 |
44,735,921 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R5487:Kmt2a
|
UTSW |
9 |
44,733,272 (GRCm39) |
unclassified |
probably benign |
|
|
R5488:Kmt2a
|
UTSW |
9 |
44,752,335 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R5489:Kmt2a
|
UTSW |
9 |
44,752,335 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R5538:Kmt2a
|
UTSW |
9 |
44,731,639 (GRCm39) |
unclassified |
probably benign |
|
|
R5576:Kmt2a
|
UTSW |
9 |
44,753,931 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5631:Kmt2a
|
UTSW |
9 |
44,731,985 (GRCm39) |
unclassified |
probably benign |
|
|
R5781:Kmt2a
|
UTSW |
9 |
44,759,139 (GRCm39) |
nonsense |
probably null |
|
|
R5789:Kmt2a
|
UTSW |
9 |
44,731,201 (GRCm39) |
unclassified |
probably benign |
|
|
R5932:Kmt2a
|
UTSW |
9 |
44,731,944 (GRCm39) |
unclassified |
probably benign |
|
|
R6027:Kmt2a
|
UTSW |
9 |
44,730,587 (GRCm39) |
unclassified |
probably benign |
|
|
R6191:Kmt2a
|
UTSW |
9 |
44,738,125 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R6239:Kmt2a
|
UTSW |
9 |
44,731,093 (GRCm39) |
unclassified |
probably benign |
|
|
R6291:Kmt2a
|
UTSW |
9 |
44,744,171 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R6344:Kmt2a
|
UTSW |
9 |
44,733,156 (GRCm39) |
unclassified |
probably benign |
|
|
R6611:Kmt2a
|
UTSW |
9 |
44,760,569 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6641:Kmt2a
|
UTSW |
9 |
44,731,132 (GRCm39) |
unclassified |
probably benign |
|
|
R6651:Kmt2a
|
UTSW |
9 |
44,740,108 (GRCm39) |
nonsense |
probably null |
|
|
R6825:Kmt2a
|
UTSW |
9 |
44,729,704 (GRCm39) |
unclassified |
probably benign |
|
|
R6853:Kmt2a
|
UTSW |
9 |
44,729,704 (GRCm39) |
unclassified |
probably benign |
|
|
R6897:Kmt2a
|
UTSW |
9 |
44,758,942 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6930:Kmt2a
|
UTSW |
9 |
44,753,962 (GRCm39) |
unclassified |
probably benign |
|
|
R6932:Kmt2a
|
UTSW |
9 |
44,740,558 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R6957:Kmt2a
|
UTSW |
9 |
44,731,319 (GRCm39) |
unclassified |
probably benign |
|
|
R7170:Kmt2a
|
UTSW |
9 |
44,722,018 (GRCm39) |
missense |
unknown |
|
|
R7202:Kmt2a
|
UTSW |
9 |
44,759,012 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7481:Kmt2a
|
UTSW |
9 |
44,720,368 (GRCm39) |
missense |
unknown |
|
|
R7538:Kmt2a
|
UTSW |
9 |
44,759,041 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7597:Kmt2a
|
UTSW |
9 |
44,742,650 (GRCm39) |
missense |
unknown |
|
|
R7741:Kmt2a
|
UTSW |
9 |
44,719,359 (GRCm39) |
missense |
unknown |
|
|
R7767:Kmt2a
|
UTSW |
9 |
44,730,295 (GRCm39) |
missense |
unknown |
|
|
R7768:Kmt2a
|
UTSW |
9 |
44,731,900 (GRCm39) |
missense |
unknown |
|
|
R7861:Kmt2a
|
UTSW |
9 |
44,730,031 (GRCm39) |
missense |
unknown |
|
|
R7894:Kmt2a
|
UTSW |
9 |
44,761,154 (GRCm39) |
nonsense |
probably null |
|
|
R7922:Kmt2a
|
UTSW |
9 |
44,754,157 (GRCm39) |
missense |
unknown |
|
|
R7943:Kmt2a
|
UTSW |
9 |
44,760,437 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7997:Kmt2a
|
UTSW |
9 |
44,745,220 (GRCm39) |
missense |
unknown |
|
|
R8033:Kmt2a
|
UTSW |
9 |
44,756,767 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8055:Kmt2a
|
UTSW |
9 |
44,732,378 (GRCm39) |
missense |
unknown |
|
|
R8139:Kmt2a
|
UTSW |
9 |
44,730,587 (GRCm39) |
unclassified |
probably benign |
|
|
R8156:Kmt2a
|
UTSW |
9 |
44,733,686 (GRCm39) |
missense |
unknown |
|
|
R8224:Kmt2a
|
UTSW |
9 |
44,719,326 (GRCm39) |
missense |
unknown |
|
|
R8427:Kmt2a
|
UTSW |
9 |
44,756,720 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8535:Kmt2a
|
UTSW |
9 |
44,730,812 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R8693:Kmt2a
|
UTSW |
9 |
44,721,981 (GRCm39) |
missense |
unknown |
|
|
R8757:Kmt2a
|
UTSW |
9 |
44,754,210 (GRCm39) |
missense |
unknown |
|
|
R8840:Kmt2a
|
UTSW |
9 |
44,721,016 (GRCm39) |
missense |
unknown |
|
|
R8933:Kmt2a
|
UTSW |
9 |
44,733,802 (GRCm39) |
unclassified |
probably benign |
|
|
R8998:Kmt2a
|
UTSW |
9 |
44,733,174 (GRCm39) |
missense |
unknown |
|
|
R9013:Kmt2a
|
UTSW |
9 |
44,761,208 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9053:Kmt2a
|
UTSW |
9 |
44,732,716 (GRCm39) |
missense |
unknown |
|
|
R9084:Kmt2a
|
UTSW |
9 |
44,740,130 (GRCm39) |
missense |
unknown |
|
|
R9146:Kmt2a
|
UTSW |
9 |
44,725,938 (GRCm39) |
nonsense |
probably null |
|
|
R9162:Kmt2a
|
UTSW |
9 |
44,759,363 (GRCm39) |
missense |
probably benign |
0.32 |
|
R9231:Kmt2a
|
UTSW |
9 |
44,759,912 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9250:Kmt2a
|
UTSW |
9 |
44,759,683 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R9262:Kmt2a
|
UTSW |
9 |
44,731,222 (GRCm39) |
missense |
probably benign |
0.23 |
|
R9323:Kmt2a
|
UTSW |
9 |
44,731,261 (GRCm39) |
unclassified |
probably benign |
|
|
R9472:Kmt2a
|
UTSW |
9 |
44,733,453 (GRCm39) |
missense |
unknown |
|
|
R9510:Kmt2a
|
UTSW |
9 |
44,734,531 (GRCm39) |
missense |
unknown |
|
|
R9524:Kmt2a
|
UTSW |
9 |
44,730,294 (GRCm39) |
missense |
unknown |
|
|
R9662:Kmt2a
|
UTSW |
9 |
44,731,428 (GRCm39) |
missense |
unknown |
|
|
R9664:Kmt2a
|
UTSW |
9 |
44,760,102 (GRCm39) |
nonsense |
probably null |
|
|
R9691:Kmt2a
|
UTSW |
9 |
44,731,557 (GRCm39) |
missense |
unknown |
|
|
R9750:Kmt2a
|
UTSW |
9 |
44,747,499 (GRCm39) |
missense |
unknown |
|
|
X0021:Kmt2a
|
UTSW |
9 |
44,742,532 (GRCm39) |
utr 3 prime |
probably benign |
|
|
X0025:Kmt2a
|
UTSW |
9 |
44,736,689 (GRCm39) |
nonsense |
probably null |
|
|
X0026:Kmt2a
|
UTSW |
9 |
44,732,203 (GRCm39) |
unclassified |
probably benign |
|
|
X0027:Kmt2a
|
UTSW |
9 |
44,792,194 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
Z1176:Kmt2a
|
UTSW |
9 |
44,759,276 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Kmt2a
|
UTSW |
9 |
44,730,418 (GRCm39) |
missense |
unknown |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GTCACTTTGACCGAGCACTTC -3'
(R):5'- AGCCCTCTCCAAATGAAGATG -3'
Sequencing Primer
(F):5'- GTGCCTGTAACTCCTTGGAAGATC -3'
(R):5'- CCTCTCCAAATGAAGATGGTGAAATC -3'
|
| Posted On |
2016-03-17 |
Incidental Mutation