Incidental Mutation 'R1846:Kmt2e'
| ID |
207716 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kmt2e
|
| Ensembl Gene |
ENSMUSG00000029004 |
| Gene Name |
lysine (K)-specific methyltransferase 2E |
| Synonyms |
9530077A04Rik, 1810033J14Rik, D230038D11Rik, Mll5 |
| MMRRC Submission |
039871-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1846 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
23639439-23709233 bp(+) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
G to A
at 23704484 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143791
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000088392]
[ENSMUST00000094962]
[ENSMUST00000115128]
[ENSMUST00000126586]
[ENSMUST00000146375]
[ENSMUST00000196260]
|
| AlphaFold |
Q3UG20 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000088392
|
| SMART Domains |
Protein: ENSMUSP00000085734
Gene: ENSMUSG00000062604
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
46 |
N/A |
INTRINSIC |
|
Pfam:Pkinase
|
79 |
228 |
1.3e-22 |
PFAM |
|
Pfam:Pkinase_Tyr
|
79 |
228 |
1e-9 |
PFAM |
|
coiled coil region
|
263 |
314 |
N/A |
INTRINSIC |
|
coiled coil region
|
339 |
373 |
N/A |
INTRINSIC |
|
low complexity region
|
393 |
406 |
N/A |
INTRINSIC |
|
Pfam:Pkinase
|
506 |
680 |
1.9e-18 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000094962
AA Change: A1226T
|
| SMART Domains |
Protein: ENSMUSP00000092569
Gene: ENSMUSG00000029004
AA Change: A1226T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
23 |
38 |
N/A |
INTRINSIC |
|
low complexity region
|
48 |
55 |
N/A |
INTRINSIC |
|
low complexity region
|
70 |
81 |
N/A |
INTRINSIC |
|
low complexity region
|
100 |
109 |
N/A |
INTRINSIC |
|
PHD
|
120 |
164 |
4.25e-8 |
SMART |
|
SET
|
328 |
453 |
2.13e-26 |
SMART |
|
low complexity region
|
487 |
503 |
N/A |
INTRINSIC |
|
low complexity region
|
569 |
582 |
N/A |
INTRINSIC |
|
low complexity region
|
854 |
867 |
N/A |
INTRINSIC |
|
low complexity region
|
882 |
908 |
N/A |
INTRINSIC |
|
low complexity region
|
933 |
945 |
N/A |
INTRINSIC |
|
low complexity region
|
951 |
960 |
N/A |
INTRINSIC |
|
low complexity region
|
1184 |
1197 |
N/A |
INTRINSIC |
|
low complexity region
|
1214 |
1237 |
N/A |
INTRINSIC |
|
low complexity region
|
1294 |
1312 |
N/A |
INTRINSIC |
|
low complexity region
|
1348 |
1367 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
1434 |
1496 |
6.13e-7 |
PROSPERO |
|
low complexity region
|
1506 |
1518 |
N/A |
INTRINSIC |
|
low complexity region
|
1625 |
1641 |
N/A |
INTRINSIC |
|
low complexity region
|
1677 |
1705 |
N/A |
INTRINSIC |
|
low complexity region
|
1720 |
1731 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
1783 |
1842 |
6.13e-7 |
PROSPERO |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000115128
AA Change: A1226T
|
| SMART Domains |
Protein: ENSMUSP00000110781
Gene: ENSMUSG00000029004
AA Change: A1226T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
23 |
38 |
N/A |
INTRINSIC |
|
low complexity region
|
48 |
55 |
N/A |
INTRINSIC |
|
low complexity region
|
70 |
81 |
N/A |
INTRINSIC |
|
low complexity region
|
100 |
109 |
N/A |
INTRINSIC |
|
PHD
|
120 |
164 |
4.25e-8 |
SMART |
|
SET
|
328 |
453 |
2.13e-26 |
SMART |
|
low complexity region
|
487 |
503 |
N/A |
INTRINSIC |
|
low complexity region
|
569 |
582 |
N/A |
INTRINSIC |
|
low complexity region
|
854 |
867 |
N/A |
INTRINSIC |
|
low complexity region
|
882 |
908 |
N/A |
INTRINSIC |
|
low complexity region
|
933 |
945 |
N/A |
INTRINSIC |
|
low complexity region
|
951 |
960 |
N/A |
INTRINSIC |
|
low complexity region
|
1184 |
1197 |
N/A |
INTRINSIC |
|
low complexity region
|
1214 |
1237 |
N/A |
INTRINSIC |
|
low complexity region
|
1294 |
1312 |
N/A |
INTRINSIC |
|
low complexity region
|
1348 |
1367 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
1434 |
1496 |
6.13e-7 |
PROSPERO |
|
low complexity region
|
1506 |
1518 |
N/A |
INTRINSIC |
|
low complexity region
|
1625 |
1641 |
N/A |
INTRINSIC |
|
low complexity region
|
1677 |
1705 |
N/A |
INTRINSIC |
|
low complexity region
|
1720 |
1731 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
1783 |
1842 |
6.13e-7 |
PROSPERO |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000126586
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000146375
|
| SMART Domains |
Protein: ENSMUSP00000142547
Gene: ENSMUSG00000029004
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
104 |
117 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000194010
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000196260
|
| SMART Domains |
Protein: ENSMUSP00000143791
Gene: ENSMUSG00000029004
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
49 |
62 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197591
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 97.5%
- 3x: 96.9%
- 10x: 95.4%
- 20x: 92.6%
|
| Validation Efficiency |
99% (75/76) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the myeloid/lymphoid or mixed-lineage leukemia (MLL) family and encodes a protein with an N-terminal PHD zinc finger and a central SET domain. Overexpression of the protein inhibits cell cycle progression. Alternate transcriptional splice variants have been characterized. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit neonatal and postnatal lethality, reduced fertility and growth, and abnormal lymphopoiesis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2900092C05Rik |
G |
A |
7: 12,246,809 (GRCm39) |
R63Q |
probably benign |
Het |
| Adamts20 |
A |
T |
15: 94,243,871 (GRCm39) |
C619S |
probably damaging |
Het |
| Alx1 |
T |
C |
10: 102,861,165 (GRCm39) |
D121G |
possibly damaging |
Het |
| Anks3 |
A |
C |
16: 4,771,748 (GRCm39) |
M215R |
probably benign |
Het |
| Anxa4 |
T |
A |
6: 86,718,893 (GRCm39) |
|
probably null |
Het |
| Arhgef25 |
A |
G |
10: 127,021,733 (GRCm39) |
V222A |
probably damaging |
Het |
| Bglap2 |
A |
G |
3: 88,285,932 (GRCm39) |
|
probably benign |
Het |
| Cars2 |
A |
G |
8: 11,564,674 (GRCm39) |
V22A |
probably benign |
Het |
| Ccdc198 |
G |
T |
14: 49,473,420 (GRCm39) |
L102I |
probably damaging |
Het |
| Cenpe |
T |
A |
3: 134,945,606 (GRCm39) |
I1040N |
probably damaging |
Het |
| Cep170 |
C |
T |
1: 176,583,335 (GRCm39) |
D1015N |
probably damaging |
Het |
| Chia1 |
T |
A |
3: 106,038,181 (GRCm39) |
I359N |
probably damaging |
Het |
| Crot |
A |
T |
5: 9,038,248 (GRCm39) |
V93E |
probably benign |
Het |
| Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
| Dnmbp |
T |
C |
19: 43,891,186 (GRCm39) |
I194V |
probably damaging |
Het |
| Dock4 |
T |
A |
12: 40,783,267 (GRCm39) |
C734S |
probably benign |
Het |
| Eif4e3 |
T |
C |
6: 99,617,662 (GRCm39) |
S70G |
probably benign |
Het |
| Entpd3 |
G |
A |
9: 120,387,441 (GRCm39) |
D213N |
probably benign |
Het |
| Ern2 |
T |
G |
7: 121,775,759 (GRCm39) |
Y445S |
probably benign |
Het |
| Fasn |
A |
G |
11: 120,704,133 (GRCm39) |
S1429P |
probably benign |
Het |
| Fat4 |
A |
G |
3: 39,036,532 (GRCm39) |
I3395V |
probably benign |
Het |
| Fbln2 |
C |
A |
6: 91,233,399 (GRCm39) |
Q628K |
possibly damaging |
Het |
| Fbxo28 |
T |
C |
1: 182,153,845 (GRCm39) |
N164D |
probably benign |
Het |
| Fez1 |
T |
C |
9: 36,779,063 (GRCm39) |
S247P |
probably damaging |
Het |
| Gars1 |
A |
G |
6: 55,040,153 (GRCm39) |
D360G |
probably benign |
Het |
| Gcfc2 |
A |
T |
6: 81,933,873 (GRCm39) |
Q710L |
probably damaging |
Het |
| Ggt5 |
A |
G |
10: 75,446,376 (GRCm39) |
|
probably null |
Het |
| Glp1r |
A |
G |
17: 31,148,909 (GRCm39) |
|
probably null |
Het |
| Hspa14 |
T |
C |
2: 3,492,697 (GRCm39) |
D356G |
possibly damaging |
Het |
| Htt |
T |
A |
5: 35,006,288 (GRCm39) |
I1399N |
probably damaging |
Het |
| Krt36 |
C |
A |
11: 99,996,374 (GRCm39) |
G17C |
probably damaging |
Het |
| Lama2 |
T |
C |
10: 27,088,092 (GRCm39) |
E895G |
probably damaging |
Het |
| Lamb2 |
G |
A |
9: 108,364,586 (GRCm39) |
R1142H |
probably benign |
Het |
| Lhcgr |
C |
T |
17: 89,072,575 (GRCm39) |
|
probably null |
Het |
| Lpin2 |
A |
G |
17: 71,532,064 (GRCm39) |
T140A |
probably benign |
Het |
| Metap1 |
A |
G |
3: 138,186,443 (GRCm39) |
|
probably benign |
Het |
| Mpeg1 |
T |
C |
19: 12,440,486 (GRCm39) |
V648A |
probably benign |
Het |
| Mroh2a |
A |
G |
1: 88,186,386 (GRCm39) |
S64G |
probably benign |
Het |
| Muc4 |
T |
A |
16: 32,752,369 (GRCm38) |
I749N |
probably benign |
Het |
| N4bp2 |
T |
C |
5: 65,965,862 (GRCm39) |
F1304L |
probably damaging |
Het |
| Nup85 |
A |
G |
11: 115,459,239 (GRCm39) |
E114G |
probably benign |
Het |
| Or2a5 |
A |
G |
6: 42,874,254 (GRCm39) |
S290G |
probably damaging |
Het |
| Or4c10 |
A |
G |
2: 89,761,010 (GRCm39) |
T286A |
possibly damaging |
Het |
| Or6b2b |
A |
T |
1: 92,418,822 (GRCm39) |
Y218* |
probably null |
Het |
| Pafah2 |
GCCCC |
GCCCCC |
4: 134,152,852 (GRCm39) |
|
probably null |
Het |
| Parp2 |
T |
A |
14: 51,052,843 (GRCm39) |
C145* |
probably null |
Het |
| Plpp6 |
T |
C |
19: 28,941,680 (GRCm39) |
S94P |
probably benign |
Het |
| Polr1a |
T |
C |
6: 71,953,172 (GRCm39) |
I1580T |
probably damaging |
Het |
| Polrmt |
A |
T |
10: 79,574,043 (GRCm39) |
V860E |
probably damaging |
Het |
| Ppp1r17 |
A |
G |
6: 55,999,412 (GRCm39) |
E15G |
possibly damaging |
Het |
| Prl7b1 |
A |
T |
13: 27,786,831 (GRCm39) |
W133R |
probably damaging |
Het |
| Ptk7 |
A |
G |
17: 46,887,416 (GRCm39) |
|
probably null |
Het |
| Rad23b |
C |
T |
4: 55,383,637 (GRCm39) |
Q290* |
probably null |
Het |
| Rorb |
C |
T |
19: 18,932,445 (GRCm39) |
E369K |
probably damaging |
Het |
| Rusc1 |
T |
C |
3: 88,999,452 (GRCm39) |
D110G |
probably damaging |
Het |
| Smg7 |
A |
G |
1: 152,724,601 (GRCm39) |
S527P |
probably damaging |
Het |
| Ssbp2 |
C |
T |
13: 91,812,268 (GRCm39) |
P105L |
probably damaging |
Het |
| Stt3a |
C |
T |
9: 36,674,681 (GRCm39) |
R34H |
probably damaging |
Het |
| Sufu |
T |
A |
19: 46,439,386 (GRCm39) |
I202N |
possibly damaging |
Het |
| Thsd7b |
G |
A |
1: 129,540,993 (GRCm39) |
R289Q |
probably damaging |
Het |
| Tph1 |
A |
T |
7: 46,309,863 (GRCm39) |
S130T |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,776,030 (GRCm39) |
S1671P |
probably damaging |
Het |
| Usp4 |
A |
G |
9: 108,249,935 (GRCm39) |
I441V |
probably benign |
Het |
| Vmn1r8 |
A |
G |
6: 57,013,413 (GRCm39) |
N155D |
probably benign |
Het |
| Vmn2r115 |
A |
C |
17: 23,578,357 (GRCm39) |
K610T |
probably damaging |
Het |
| Vmn2r62 |
G |
A |
7: 42,438,546 (GRCm39) |
P97S |
probably damaging |
Het |
| Zbtb40 |
T |
C |
4: 136,735,150 (GRCm39) |
D297G |
probably benign |
Het |
| Zfp174 |
C |
A |
16: 3,672,599 (GRCm39) |
Q383K |
probably benign |
Het |
| Zfp318 |
T |
A |
17: 46,724,592 (GRCm39) |
D2198E |
probably benign |
Het |
| Zfp628 |
C |
T |
7: 4,923,866 (GRCm39) |
P696L |
possibly damaging |
Het |
| Zgrf1 |
T |
A |
3: 127,409,112 (GRCm39) |
N1695K |
probably damaging |
Het |
|
| Other mutations in Kmt2e |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00783:Kmt2e
|
APN |
5 |
23,697,356 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01330:Kmt2e
|
APN |
5 |
23,702,946 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL01457:Kmt2e
|
APN |
5 |
23,707,017 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
IGL01691:Kmt2e
|
APN |
5 |
23,702,089 (GRCm39) |
missense |
probably benign |
|
|
IGL02274:Kmt2e
|
APN |
5 |
23,705,758 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02934:Kmt2e
|
APN |
5 |
23,702,882 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02964:Kmt2e
|
APN |
5 |
23,672,098 (GRCm39) |
splice site |
probably benign |
|
|
IGL03011:Kmt2e
|
APN |
5 |
23,702,540 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03291:Kmt2e
|
APN |
5 |
23,704,289 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0035:Kmt2e
|
UTSW |
5 |
23,690,619 (GRCm39) |
splice site |
probably benign |
|
|
R0446:Kmt2e
|
UTSW |
5 |
23,702,532 (GRCm39) |
splice site |
probably null |
|
|
R0498:Kmt2e
|
UTSW |
5 |
23,683,970 (GRCm39) |
nonsense |
probably null |
|
|
R0699:Kmt2e
|
UTSW |
5 |
23,678,581 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0701:Kmt2e
|
UTSW |
5 |
23,678,581 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0761:Kmt2e
|
UTSW |
5 |
23,708,032 (GRCm39) |
nonsense |
probably null |
|
|
R1110:Kmt2e
|
UTSW |
5 |
23,707,653 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1295:Kmt2e
|
UTSW |
5 |
23,707,402 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1432:Kmt2e
|
UTSW |
5 |
23,655,319 (GRCm39) |
missense |
probably benign |
0.39 |
|
R1495:Kmt2e
|
UTSW |
5 |
23,704,325 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R1505:Kmt2e
|
UTSW |
5 |
23,705,533 (GRCm39) |
missense |
probably null |
0.01 |
|
R1623:Kmt2e
|
UTSW |
5 |
23,687,500 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1675:Kmt2e
|
UTSW |
5 |
23,687,451 (GRCm39) |
nonsense |
probably null |
|
|
R1691:Kmt2e
|
UTSW |
5 |
23,669,847 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1778:Kmt2e
|
UTSW |
5 |
23,697,362 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1820:Kmt2e
|
UTSW |
5 |
23,678,545 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1912:Kmt2e
|
UTSW |
5 |
23,697,393 (GRCm39) |
missense |
probably benign |
0.07 |
|
R2070:Kmt2e
|
UTSW |
5 |
23,706,993 (GRCm39) |
missense |
probably benign |
|
|
R2195:Kmt2e
|
UTSW |
5 |
23,707,194 (GRCm39) |
splice site |
probably null |
|
|
R2571:Kmt2e
|
UTSW |
5 |
23,706,885 (GRCm39) |
missense |
probably benign |
0.08 |
|
R3901:Kmt2e
|
UTSW |
5 |
23,706,640 (GRCm39) |
missense |
probably benign |
0.02 |
|
R3902:Kmt2e
|
UTSW |
5 |
23,706,640 (GRCm39) |
missense |
probably benign |
0.02 |
|
R3905:Kmt2e
|
UTSW |
5 |
23,706,624 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3906:Kmt2e
|
UTSW |
5 |
23,706,624 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3909:Kmt2e
|
UTSW |
5 |
23,706,624 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3956:Kmt2e
|
UTSW |
5 |
23,701,023 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4242:Kmt2e
|
UTSW |
5 |
23,707,820 (GRCm39) |
unclassified |
probably benign |
|
|
R4299:Kmt2e
|
UTSW |
5 |
23,669,912 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4448:Kmt2e
|
UTSW |
5 |
23,669,788 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R4528:Kmt2e
|
UTSW |
5 |
23,678,556 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R4574:Kmt2e
|
UTSW |
5 |
23,697,405 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R4719:Kmt2e
|
UTSW |
5 |
23,697,313 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4754:Kmt2e
|
UTSW |
5 |
23,687,439 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R4787:Kmt2e
|
UTSW |
5 |
23,668,081 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R4812:Kmt2e
|
UTSW |
5 |
23,707,585 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R4853:Kmt2e
|
UTSW |
5 |
23,707,339 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5138:Kmt2e
|
UTSW |
5 |
23,707,693 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5306:Kmt2e
|
UTSW |
5 |
23,704,331 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5659:Kmt2e
|
UTSW |
5 |
23,702,805 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5907:Kmt2e
|
UTSW |
5 |
23,669,704 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5920:Kmt2e
|
UTSW |
5 |
23,704,440 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R6280:Kmt2e
|
UTSW |
5 |
23,704,514 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R6353:Kmt2e
|
UTSW |
5 |
23,698,243 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6375:Kmt2e
|
UTSW |
5 |
23,704,517 (GRCm39) |
missense |
probably benign |
|
|
R6553:Kmt2e
|
UTSW |
5 |
23,668,024 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6572:Kmt2e
|
UTSW |
5 |
23,702,579 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R6678:Kmt2e
|
UTSW |
5 |
23,704,293 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R6791:Kmt2e
|
UTSW |
5 |
23,704,474 (GRCm39) |
intron |
probably benign |
|
|
R6792:Kmt2e
|
UTSW |
5 |
23,704,474 (GRCm39) |
intron |
probably benign |
|
|
R6794:Kmt2e
|
UTSW |
5 |
23,704,474 (GRCm39) |
intron |
probably benign |
|
|
R6797:Kmt2e
|
UTSW |
5 |
23,687,505 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R6947:Kmt2e
|
UTSW |
5 |
23,702,543 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7023:Kmt2e
|
UTSW |
5 |
23,705,485 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R7036:Kmt2e
|
UTSW |
5 |
23,683,741 (GRCm39) |
missense |
probably null |
1.00 |
|
R7173:Kmt2e
|
UTSW |
5 |
23,669,855 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7202:Kmt2e
|
UTSW |
5 |
23,697,292 (GRCm39) |
unclassified |
probably benign |
|
|
R7563:Kmt2e
|
UTSW |
5 |
23,705,271 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7571:Kmt2e
|
UTSW |
5 |
23,683,585 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7604:Kmt2e
|
UTSW |
5 |
23,706,763 (GRCm39) |
missense |
not run |
|
|
R7722:Kmt2e
|
UTSW |
5 |
23,702,016 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7758:Kmt2e
|
UTSW |
5 |
23,701,068 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7794:Kmt2e
|
UTSW |
5 |
23,669,714 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8137:Kmt2e
|
UTSW |
5 |
23,706,952 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8341:Kmt2e
|
UTSW |
5 |
23,704,451 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8383:Kmt2e
|
UTSW |
5 |
23,690,539 (GRCm39) |
missense |
probably benign |
0.08 |
|
R8400:Kmt2e
|
UTSW |
5 |
23,702,090 (GRCm39) |
missense |
probably benign |
0.17 |
|
R8546:Kmt2e
|
UTSW |
5 |
23,686,242 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8750:Kmt2e
|
UTSW |
5 |
23,698,215 (GRCm39) |
missense |
probably benign |
|
|
R8786:Kmt2e
|
UTSW |
5 |
23,669,864 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9211:Kmt2e
|
UTSW |
5 |
23,669,770 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R9660:Kmt2e
|
UTSW |
5 |
23,683,617 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9786:Kmt2e
|
UTSW |
5 |
23,702,982 (GRCm39) |
missense |
probably benign |
0.16 |
|
RF026:Kmt2e
|
UTSW |
5 |
23,683,507 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|
RF028:Kmt2e
|
UTSW |
5 |
23,683,507 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|
RF040:Kmt2e
|
UTSW |
5 |
23,683,507 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|
RF042:Kmt2e
|
UTSW |
5 |
23,683,507 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|
Z1177:Kmt2e
|
UTSW |
5 |
23,686,206 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TTAGAATACCGTAAGAGACAACGTG -3'
(R):5'- GTGATCACCTTCAACCACTGTC -3'
Sequencing Primer
(F):5'- TACCGTAAGAGACAACGTGAAGCTAG -3'
(R):5'- TTTATCATTCCAAAACAGCAAACAGG -3'
|
| Posted On |
2014-06-23 |
Incidental Mutation