Incidental Mutation 'R4299:Kmt2e'
| ID |
323474 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kmt2e
|
| Ensembl Gene |
ENSMUSG00000029004 |
| Gene Name |
lysine (K)-specific methyltransferase 2E |
| Synonyms |
9530077A04Rik, 1810033J14Rik, D230038D11Rik, Mll5 |
| MMRRC Submission |
041087-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4299 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
23639439-23709233 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 23669912 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 133
(I133N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110781
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094962]
[ENSMUST00000115128]
[ENSMUST00000196889]
|
| AlphaFold |
Q3UG20 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000094962
AA Change: I133N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000092569
Gene: ENSMUSG00000029004
AA Change: I133N
| 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 damaging
Transcript: ENSMUST00000115128
AA Change: I133N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000110781
Gene: ENSMUSG00000029004
AA Change: I133N
| 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 damaging
Transcript: ENSMUST00000196889
AA Change: I133N
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000142568
Gene: ENSMUSG00000029004
AA Change: I133N
| 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 |
2.7e-10 |
SMART |
|
Blast:SET
|
216 |
327 |
6e-61 |
BLAST |
|
Blast:SET
|
328 |
377 |
3e-26 |
BLAST |
|
| Meta Mutation Damage Score |
0.9203 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
97% (76/78) |
| 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: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc12 |
T |
C |
8: 87,258,154 (GRCm39) |
|
probably null |
Het |
| Akna |
A |
T |
4: 63,316,269 (GRCm39) |
D31E |
possibly damaging |
Het |
| Apbb2 |
A |
T |
5: 66,470,721 (GRCm39) |
H528Q |
probably damaging |
Het |
| Atp6v1g3 |
C |
A |
1: 138,211,462 (GRCm39) |
Y47* |
probably null |
Het |
| AW551984 |
T |
C |
9: 39,504,275 (GRCm39) |
T564A |
probably benign |
Het |
| C4b |
T |
C |
17: 34,950,118 (GRCm39) |
D1384G |
possibly damaging |
Het |
| Cbfa2t2 |
G |
A |
2: 154,365,848 (GRCm39) |
V353I |
probably damaging |
Het |
| Ccdc121 |
A |
G |
5: 31,644,870 (GRCm39) |
R208G |
possibly damaging |
Het |
| Cdh20 |
T |
C |
1: 109,988,731 (GRCm39) |
I211T |
probably damaging |
Het |
| Cep170b |
T |
C |
12: 112,705,739 (GRCm39) |
S1166P |
probably damaging |
Het |
| Col9a2 |
C |
G |
4: 120,911,455 (GRCm39) |
R599G |
probably damaging |
Het |
| Crygs |
G |
A |
16: 22,624,161 (GRCm39) |
Q149* |
probably null |
Het |
| Cyp2c70 |
T |
C |
19: 40,172,372 (GRCm39) |
Q90R |
probably benign |
Het |
| Cyp3a41b |
T |
C |
5: 145,510,487 (GRCm39) |
Y129C |
possibly damaging |
Het |
| Dnah10 |
A |
G |
5: 124,896,989 (GRCm39) |
T3645A |
probably damaging |
Het |
| Dnai3 |
C |
T |
3: 145,774,561 (GRCm39) |
D429N |
probably damaging |
Het |
| Dolk |
A |
T |
2: 30,175,200 (GRCm39) |
W282R |
probably damaging |
Het |
| Dsg2 |
T |
A |
18: 20,729,008 (GRCm39) |
|
probably null |
Het |
| Dysf |
A |
G |
6: 84,045,059 (GRCm39) |
T297A |
possibly damaging |
Het |
| Flt1 |
G |
T |
5: 147,620,717 (GRCm39) |
D142E |
probably benign |
Het |
| Frmd4a |
C |
A |
2: 4,337,882 (GRCm39) |
N29K |
probably benign |
Het |
| Fxyd7 |
A |
T |
7: 30,744,407 (GRCm39) |
M36K |
probably benign |
Het |
| Gabbr1 |
C |
T |
17: 37,366,792 (GRCm39) |
R178* |
probably null |
Het |
| Gnal |
C |
G |
18: 67,221,654 (GRCm39) |
P19R |
unknown |
Het |
| Gprc5b |
G |
A |
7: 118,583,437 (GRCm39) |
A144V |
possibly damaging |
Het |
| Il1rapl1 |
A |
T |
X: 86,344,313 (GRCm39) |
I194N |
probably damaging |
Het |
| Kics2 |
C |
A |
10: 121,581,351 (GRCm39) |
H117Q |
probably benign |
Het |
| Klhl24 |
T |
C |
16: 19,925,754 (GRCm39) |
M94T |
probably damaging |
Het |
| Macf1 |
A |
G |
4: 123,293,199 (GRCm39) |
I5381T |
probably damaging |
Het |
| Madd |
A |
G |
2: 91,000,148 (GRCm39) |
L197P |
probably damaging |
Het |
| Mapkapk3 |
G |
A |
9: 107,134,648 (GRCm39) |
T296M |
probably damaging |
Het |
| Micall2 |
T |
C |
5: 139,695,226 (GRCm39) |
|
probably benign |
Het |
| Myh9 |
T |
C |
15: 77,654,164 (GRCm39) |
T1214A |
probably benign |
Het |
| Ncapd3 |
A |
G |
9: 26,963,623 (GRCm39) |
N492S |
probably benign |
Het |
| Neurl4 |
A |
C |
11: 69,799,887 (GRCm39) |
D1055A |
probably damaging |
Het |
| Nrbp1 |
T |
C |
5: 31,407,943 (GRCm39) |
|
probably null |
Het |
| Or13a20 |
T |
C |
7: 140,232,156 (GRCm39) |
V88A |
probably benign |
Het |
| Or1e21 |
A |
T |
11: 73,344,827 (GRCm39) |
D70E |
probably damaging |
Het |
| Or52z1 |
T |
A |
7: 103,437,202 (GRCm39) |
H94L |
probably benign |
Het |
| Or5j3 |
A |
T |
2: 86,128,585 (GRCm39) |
I142F |
possibly damaging |
Het |
| Or6k8-ps1 |
T |
A |
1: 173,979,878 (GRCm39) |
Y265* |
probably null |
Het |
| Or8b42 |
T |
G |
9: 38,342,108 (GRCm39) |
Y177D |
probably damaging |
Het |
| Or8d1b |
T |
A |
9: 38,887,055 (GRCm39) |
F28I |
probably damaging |
Het |
| Or8g19 |
T |
C |
9: 39,056,295 (GRCm39) |
S300P |
probably benign |
Het |
| Patj |
C |
A |
4: 98,565,558 (GRCm39) |
N1090K |
possibly damaging |
Het |
| Pde8a |
A |
G |
7: 80,977,783 (GRCm39) |
D692G |
probably benign |
Het |
| Ppa2 |
G |
T |
3: 133,073,603 (GRCm39) |
K220N |
probably damaging |
Het |
| Pramel32 |
T |
C |
4: 88,546,419 (GRCm39) |
K137E |
probably damaging |
Het |
| Ptgr3 |
A |
T |
18: 84,112,626 (GRCm39) |
I101F |
possibly damaging |
Het |
| Rad54b |
A |
G |
4: 11,597,865 (GRCm39) |
H250R |
probably damaging |
Het |
| Reln |
A |
C |
5: 22,125,485 (GRCm39) |
C2733G |
probably damaging |
Het |
| Rgs14 |
A |
G |
13: 55,531,566 (GRCm39) |
T497A |
probably damaging |
Het |
| Rpl13-ps3 |
T |
A |
14: 59,130,972 (GRCm39) |
|
noncoding transcript |
Het |
| Scn11a |
T |
G |
9: 119,594,572 (GRCm39) |
I1274L |
probably damaging |
Het |
| Sco1 |
A |
T |
11: 66,946,626 (GRCm39) |
H133L |
possibly damaging |
Het |
| Slc4a8 |
T |
C |
15: 100,694,521 (GRCm39) |
|
probably null |
Het |
| Smc2 |
C |
T |
4: 52,440,238 (GRCm39) |
|
probably benign |
Het |
| Spata18 |
T |
C |
5: 73,824,245 (GRCm39) |
I156T |
probably benign |
Het |
| St3gal2 |
T |
C |
8: 111,688,991 (GRCm39) |
M177T |
probably benign |
Het |
| Stt3a |
A |
G |
9: 36,674,640 (GRCm39) |
F48L |
probably damaging |
Het |
| Syvn1 |
C |
T |
19: 6,099,951 (GRCm39) |
|
probably benign |
Het |
| Szt2 |
A |
G |
4: 118,222,603 (GRCm39) |
|
probably benign |
Het |
| Telo2 |
A |
T |
17: 25,334,230 (GRCm39) |
S6T |
possibly damaging |
Het |
| Tnfrsf11b |
T |
C |
15: 54,115,491 (GRCm39) |
M369V |
probably benign |
Het |
| Tnfrsf13b |
C |
G |
11: 61,031,643 (GRCm39) |
|
probably null |
Het |
| Vmn1r234 |
A |
T |
17: 21,449,283 (GRCm39) |
M66L |
probably benign |
Het |
| Vmn2r12 |
C |
A |
5: 109,239,830 (GRCm39) |
M244I |
probably benign |
Het |
| Wdfy2 |
T |
A |
14: 63,162,589 (GRCm39) |
L97* |
probably null |
Het |
| Xrcc5 |
T |
C |
1: 72,433,879 (GRCm39) |
*733Q |
probably null |
Het |
| Zfp1004 |
G |
A |
2: 150,032,653 (GRCm39) |
D17N |
probably damaging |
Het |
| Zfp516 |
G |
A |
18: 83,005,622 (GRCm39) |
G842D |
possibly damaging |
Het |
| Zwilch |
A |
G |
9: 64,062,444 (GRCm39) |
|
probably null |
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 |
|
R1846:Kmt2e
|
UTSW |
5 |
23,704,484 (GRCm39) |
intron |
probably benign |
|
|
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 |
|
|
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'- AATTATGGTGCTCGTCCTCC -3'
(R):5'- CAAAAGTGACCTTACTACCATTTCC -3'
Sequencing Primer
(F):5'- GGTGCTCGTCCTCCTCCAAC -3'
(R):5'- CTTTAATCCTAAGCACTCGGGAGG -3'
|
| Posted On |
2015-06-20 |
Incidental Mutation