Incidental Mutation 'IGL02249:H2-M11'
ID |
286302 |
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 # |
IGL02249
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
36857967-36860142 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 36858829 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Phenylalanine
at position 123
(Y123F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000042522
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041964]
|
AlphaFold |
F6U8V3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000041964
AA Change: Y123F
PolyPhen 2
Score 0.390 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000042522 Gene: ENSMUSG00000037537 AA Change: Y123F
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: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700019A02Rik |
T |
A |
1: 53,224,431 (GRCm39) |
K23* |
probably null |
Het |
Abca1 |
A |
T |
4: 53,068,739 (GRCm39) |
L1333* |
probably null |
Het |
Adcy6 |
C |
A |
15: 98,497,795 (GRCm39) |
M452I |
probably damaging |
Het |
Adsl |
G |
A |
15: 80,844,676 (GRCm39) |
R173H |
probably benign |
Het |
Ank3 |
A |
G |
10: 69,718,200 (GRCm39) |
T484A |
probably damaging |
Het |
Apol10a |
A |
G |
15: 77,372,709 (GRCm39) |
D115G |
probably damaging |
Het |
Bard1 |
A |
G |
1: 71,092,828 (GRCm39) |
S529P |
probably damaging |
Het |
C2 |
A |
G |
17: 35,083,484 (GRCm39) |
|
probably benign |
Het |
Cftr |
T |
A |
6: 18,277,870 (GRCm39) |
I956N |
possibly damaging |
Het |
Cwc15 |
A |
G |
9: 14,414,977 (GRCm39) |
T110A |
probably benign |
Het |
Dsg4 |
A |
T |
18: 20,594,361 (GRCm39) |
I497F |
possibly damaging |
Het |
Gadd45b |
A |
G |
10: 80,766,967 (GRCm39) |
D69G |
possibly damaging |
Het |
Glb1l3 |
A |
T |
9: 26,742,564 (GRCm39) |
S307R |
possibly damaging |
Het |
Greb1l |
G |
A |
18: 10,532,961 (GRCm39) |
G843R |
probably damaging |
Het |
Hal |
G |
A |
10: 93,333,400 (GRCm39) |
A323T |
probably damaging |
Het |
Il4ra |
T |
C |
7: 125,166,396 (GRCm39) |
F47L |
probably benign |
Het |
Klra10 |
T |
A |
6: 130,256,367 (GRCm39) |
N96Y |
probably benign |
Het |
Maco1 |
T |
C |
4: 134,555,623 (GRCm39) |
I283M |
possibly damaging |
Het |
Mki67 |
T |
A |
7: 135,302,251 (GRCm39) |
M928L |
possibly damaging |
Het |
Myh15 |
T |
A |
16: 48,930,847 (GRCm39) |
V607D |
probably damaging |
Het |
Ndufaf2 |
A |
G |
13: 108,217,925 (GRCm39) |
W74R |
probably damaging |
Het |
Noc4l |
C |
A |
5: 110,801,081 (GRCm39) |
|
probably benign |
Het |
Or51b6b |
T |
A |
7: 103,309,573 (GRCm39) |
I295F |
probably damaging |
Het |
Papss1 |
T |
A |
3: 131,307,772 (GRCm39) |
W274R |
probably damaging |
Het |
Pax3 |
C |
T |
1: 78,171,962 (GRCm39) |
V83I |
probably damaging |
Het |
Prmt5 |
C |
T |
14: 54,747,322 (GRCm39) |
R485H |
probably damaging |
Het |
Ptprq |
A |
G |
10: 107,418,220 (GRCm39) |
Y1719H |
probably damaging |
Het |
Ranbp2 |
A |
T |
10: 58,315,900 (GRCm39) |
I2207F |
possibly damaging |
Het |
Rock2 |
T |
A |
12: 17,021,042 (GRCm39) |
|
probably benign |
Het |
Sema3c |
G |
A |
5: 17,867,961 (GRCm39) |
R124H |
probably damaging |
Het |
Serpina1e |
G |
A |
12: 103,917,393 (GRCm39) |
T92M |
probably benign |
Het |
Sgip1 |
T |
C |
4: 102,768,667 (GRCm39) |
L83P |
probably benign |
Het |
Tm9sf2 |
C |
T |
14: 122,361,162 (GRCm39) |
S68L |
probably damaging |
Het |
Tmem178 |
A |
G |
17: 81,297,235 (GRCm39) |
T206A |
probably damaging |
Het |
Tmem207 |
A |
T |
16: 26,336,617 (GRCm39) |
Y46N |
possibly damaging |
Het |
Tyk2 |
A |
G |
9: 21,031,703 (GRCm39) |
L429P |
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 |
IGL01657:H2-M11
|
APN |
17 |
36,858,465 (GRCm39) |
missense |
probably benign |
0.00 |
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 |
2015-04-16 |