Incidental Mutation 'IGL01657:H2-M11'
ID |
103054 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
H2-M11
|
Ensembl Gene |
ENSMUSG00000037537 |
Gene Name |
histocompatibility 2, M region locus 11 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.051)
|
Stock # |
IGL01657
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
36857967-36860142 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 36858465 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 86
(D86E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000042522
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041964]
|
AlphaFold |
F6U8V3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000041964
AA Change: D86E
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000042522 Gene: ENSMUSG00000037537 AA Change: D86E
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
Pfam:MHC_I
|
25 |
203 |
2.8e-44 |
PFAM |
IGc1
|
222 |
293 |
1.91e-18 |
SMART |
transmembrane domain
|
308 |
330 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173968
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrb3 |
A |
G |
1: 25,865,574 (GRCm39) |
F90L |
probably benign |
Het |
Anapc4 |
T |
A |
5: 53,021,968 (GRCm39) |
Y683* |
probably null |
Het |
Astn2 |
T |
G |
4: 65,570,186 (GRCm39) |
D773A |
probably damaging |
Het |
Atp2b3 |
T |
C |
X: 72,588,966 (GRCm39) |
|
probably benign |
Het |
Atp8b5 |
T |
C |
4: 43,291,693 (GRCm39) |
M22T |
probably benign |
Het |
Birc6 |
T |
A |
17: 74,967,606 (GRCm39) |
L4169H |
probably damaging |
Het |
Cdc42bpa |
T |
C |
1: 179,939,431 (GRCm39) |
V81A |
probably benign |
Het |
Clcn2 |
A |
T |
16: 20,532,369 (GRCm39) |
C80S |
probably damaging |
Het |
Clu |
C |
T |
14: 66,217,121 (GRCm39) |
A318V |
possibly damaging |
Het |
Csnk1g2 |
A |
G |
10: 80,475,463 (GRCm39) |
H378R |
probably benign |
Het |
Decr2 |
T |
A |
17: 26,301,926 (GRCm39) |
D268V |
probably damaging |
Het |
Dpp3 |
T |
C |
19: 4,968,332 (GRCm39) |
T247A |
possibly damaging |
Het |
Eif4g1 |
A |
G |
16: 20,500,966 (GRCm39) |
N774D |
possibly damaging |
Het |
Epha4 |
A |
T |
1: 77,403,475 (GRCm39) |
V344E |
probably damaging |
Het |
Epha6 |
A |
C |
16: 59,659,666 (GRCm39) |
N817K |
probably benign |
Het |
Ggcx |
T |
A |
6: 72,406,941 (GRCm39) |
|
probably null |
Het |
Gm1965 |
C |
T |
6: 89,123,648 (GRCm39) |
|
noncoding transcript |
Het |
Gmnn |
T |
C |
13: 24,937,687 (GRCm39) |
E101G |
probably damaging |
Het |
Grik2 |
C |
T |
10: 49,404,082 (GRCm39) |
|
probably null |
Het |
Il6st |
T |
A |
13: 112,618,077 (GRCm39) |
W164R |
probably damaging |
Het |
Ilvbl |
G |
T |
10: 78,412,602 (GRCm39) |
V108L |
possibly damaging |
Het |
Klk10 |
A |
G |
7: 43,431,013 (GRCm39) |
K19E |
possibly damaging |
Het |
Mbd4 |
G |
T |
6: 115,826,598 (GRCm39) |
T131N |
probably damaging |
Het |
Ncapd3 |
T |
C |
9: 26,983,120 (GRCm39) |
V956A |
possibly damaging |
Het |
Nif3l1 |
A |
C |
1: 58,494,771 (GRCm39) |
T247P |
probably damaging |
Het |
Nrcam |
T |
C |
12: 44,606,583 (GRCm39) |
V443A |
probably damaging |
Het |
Or4c35 |
A |
G |
2: 89,808,221 (GRCm39) |
Y33C |
probably damaging |
Het |
Pigk |
T |
A |
3: 152,428,157 (GRCm39) |
H61Q |
probably damaging |
Het |
Pla2g4d |
C |
A |
2: 120,105,768 (GRCm39) |
V431F |
possibly damaging |
Het |
Pxt1 |
A |
T |
17: 29,153,778 (GRCm39) |
H18Q |
possibly damaging |
Het |
Rpusd4 |
T |
C |
9: 35,184,757 (GRCm39) |
|
probably benign |
Het |
Slc22a18 |
T |
G |
7: 143,052,837 (GRCm39) |
L354R |
probably damaging |
Het |
Slc26a10 |
A |
G |
10: 127,010,903 (GRCm39) |
V443A |
probably damaging |
Het |
Smpx |
A |
G |
X: 156,497,676 (GRCm39) |
|
probably benign |
Het |
Sptan1 |
A |
G |
2: 29,908,491 (GRCm39) |
S1751G |
probably benign |
Het |
Ush2a |
C |
T |
1: 188,558,658 (GRCm39) |
T3629I |
probably benign |
Het |
Vcan |
C |
T |
13: 89,838,705 (GRCm39) |
V2280M |
probably damaging |
Het |
Vmn1r30 |
T |
C |
6: 58,412,619 (GRCm39) |
E71G |
probably benign |
Het |
Vmn2r100 |
A |
T |
17: 19,746,178 (GRCm39) |
I446F |
possibly damaging |
Het |
Vmn2r75 |
A |
T |
7: 85,813,455 (GRCm39) |
V449D |
probably damaging |
Het |
|
Other mutations in H2-M11 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00233:H2-M11
|
APN |
17 |
36,858,445 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02249:H2-M11
|
APN |
17 |
36,858,829 (GRCm39) |
missense |
probably benign |
0.39 |
IGL03263:H2-M11
|
APN |
17 |
36,859,805 (GRCm39) |
missense |
probably damaging |
1.00 |
R0481:H2-M11
|
UTSW |
17 |
36,859,846 (GRCm39) |
nonsense |
probably null |
|
R0639:H2-M11
|
UTSW |
17 |
36,858,283 (GRCm39) |
missense |
probably benign |
0.00 |
R0866:H2-M11
|
UTSW |
17 |
36,859,829 (GRCm39) |
missense |
probably benign |
0.00 |
R0924:H2-M11
|
UTSW |
17 |
36,860,106 (GRCm39) |
missense |
probably benign |
|
R0925:H2-M11
|
UTSW |
17 |
36,858,353 (GRCm39) |
missense |
probably benign |
0.00 |
R1707:H2-M11
|
UTSW |
17 |
36,859,658 (GRCm39) |
missense |
probably damaging |
1.00 |
R2212:H2-M11
|
UTSW |
17 |
36,859,822 (GRCm39) |
missense |
probably damaging |
1.00 |
R2566:H2-M11
|
UTSW |
17 |
36,859,042 (GRCm39) |
missense |
possibly damaging |
0.76 |
R2567:H2-M11
|
UTSW |
17 |
36,859,042 (GRCm39) |
missense |
possibly damaging |
0.76 |
R3029:H2-M11
|
UTSW |
17 |
36,859,042 (GRCm39) |
missense |
possibly damaging |
0.76 |
R3030:H2-M11
|
UTSW |
17 |
36,859,042 (GRCm39) |
missense |
possibly damaging |
0.76 |
R3893:H2-M11
|
UTSW |
17 |
36,857,982 (GRCm39) |
missense |
probably benign |
0.01 |
R3946:H2-M11
|
UTSW |
17 |
36,860,123 (GRCm39) |
missense |
probably damaging |
1.00 |
R4647:H2-M11
|
UTSW |
17 |
36,858,883 (GRCm39) |
missense |
probably benign |
0.06 |
R4679:H2-M11
|
UTSW |
17 |
36,859,042 (GRCm39) |
missense |
possibly damaging |
0.76 |
R4868:H2-M11
|
UTSW |
17 |
36,859,811 (GRCm39) |
missense |
probably damaging |
1.00 |
R4876:H2-M11
|
UTSW |
17 |
36,858,401 (GRCm39) |
missense |
probably benign |
0.09 |
R5496:H2-M11
|
UTSW |
17 |
36,858,871 (GRCm39) |
missense |
possibly damaging |
0.73 |
R6514:H2-M11
|
UTSW |
17 |
36,859,839 (GRCm39) |
missense |
probably damaging |
1.00 |
R7779:H2-M11
|
UTSW |
17 |
36,859,698 (GRCm39) |
missense |
probably benign |
0.14 |
R8072:H2-M11
|
UTSW |
17 |
36,859,026 (GRCm39) |
missense |
probably benign |
0.13 |
R8210:H2-M11
|
UTSW |
17 |
36,858,860 (GRCm39) |
missense |
probably damaging |
0.98 |
R8249:H2-M11
|
UTSW |
17 |
36,859,900 (GRCm39) |
missense |
probably damaging |
1.00 |
R8425:H2-M11
|
UTSW |
17 |
36,859,649 (GRCm39) |
missense |
probably benign |
0.00 |
R8466:H2-M11
|
UTSW |
17 |
36,858,985 (GRCm39) |
missense |
probably benign |
0.35 |
R8906:H2-M11
|
UTSW |
17 |
36,859,851 (GRCm39) |
nonsense |
probably null |
|
R9688:H2-M11
|
UTSW |
17 |
36,859,054 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:H2-M11
|
UTSW |
17 |
36,859,662 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
Posted On |
2014-01-21 |