Incidental Mutation 'IGL02700:H2-M1'
ID |
304087 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
H2-M1
|
Ensembl Gene |
ENSMUSG00000037334 |
Gene Name |
histocompatibility 2, M region locus 1 |
Synonyms |
Mb1, H-2M1 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.059)
|
Stock # |
IGL02700
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
36980900-36983111 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 36982161 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 147
(I147V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000040435
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041662]
|
AlphaFold |
F7CXU4 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000041662
AA Change: I147V
PolyPhen 2
Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000040435 Gene: ENSMUSG00000037334 AA Change: I147V
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
Pfam:MHC_I
|
25 |
202 |
7.1e-47 |
PFAM |
IGc1
|
221 |
292 |
3.53e-22 |
SMART |
transmembrane domain
|
310 |
332 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 26 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700018B08Rik |
C |
A |
8: 122,262,161 (GRCm39) |
|
probably null |
Het |
Acacb |
A |
G |
5: 114,356,942 (GRCm39) |
Y1291C |
probably damaging |
Het |
Agtpbp1 |
C |
T |
13: 59,676,233 (GRCm39) |
C179Y |
probably damaging |
Het |
Capn15 |
T |
C |
17: 26,181,982 (GRCm39) |
D609G |
probably damaging |
Het |
Cnnm3 |
T |
A |
1: 36,552,189 (GRCm39) |
F400I |
probably damaging |
Het |
Dst |
A |
C |
1: 34,301,201 (GRCm39) |
E1189A |
probably damaging |
Het |
Gcnt1 |
G |
A |
19: 17,306,780 (GRCm39) |
T315I |
probably damaging |
Het |
Hk1 |
T |
C |
10: 62,120,590 (GRCm39) |
N536D |
probably damaging |
Het |
Klhl5 |
C |
T |
5: 65,288,773 (GRCm39) |
Q12* |
probably null |
Het |
Lgals12 |
C |
T |
19: 7,575,455 (GRCm39) |
A294T |
probably benign |
Het |
Mideas |
T |
C |
12: 84,199,636 (GRCm39) |
N1028S |
probably benign |
Het |
Mki67 |
G |
T |
7: 135,309,931 (GRCm39) |
S173R |
probably benign |
Het |
Nedd4l |
C |
T |
18: 65,342,751 (GRCm39) |
R755C |
probably damaging |
Het |
Obox5 |
A |
G |
7: 15,492,888 (GRCm39) |
D281G |
possibly damaging |
Het |
Or4f6 |
T |
C |
2: 111,839,036 (GRCm39) |
D165G |
probably benign |
Het |
Pacs2 |
T |
A |
12: 113,025,330 (GRCm39) |
I494N |
probably damaging |
Het |
Pax5 |
G |
T |
4: 44,682,722 (GRCm39) |
T141K |
probably damaging |
Het |
Phf21b |
T |
C |
15: 84,687,662 (GRCm39) |
N230S |
probably benign |
Het |
Rab3gap1 |
G |
T |
1: 127,866,342 (GRCm39) |
A841S |
probably benign |
Het |
Siglecf |
T |
C |
7: 43,001,802 (GRCm39) |
L204P |
probably damaging |
Het |
Slc39a10 |
G |
A |
1: 46,857,288 (GRCm39) |
A696V |
probably damaging |
Het |
Snca |
G |
A |
6: 60,804,521 (GRCm39) |
T22I |
possibly damaging |
Het |
Syvn1 |
A |
G |
19: 6,097,973 (GRCm39) |
T4A |
probably benign |
Het |
Usp36 |
T |
C |
11: 118,166,983 (GRCm39) |
N298S |
possibly damaging |
Het |
Usp42 |
A |
T |
5: 143,702,883 (GRCm39) |
S579R |
probably benign |
Het |
Vezf1 |
T |
C |
11: 87,964,129 (GRCm39) |
S94P |
probably damaging |
Het |
|
Other mutations in H2-M1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01147:H2-M1
|
APN |
17 |
36,982,199 (GRCm39) |
missense |
possibly damaging |
0.92 |
IGL01671:H2-M1
|
APN |
17 |
36,981,330 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01870:H2-M1
|
APN |
17 |
36,980,955 (GRCm39) |
missense |
probably benign |
0.38 |
IGL02032:H2-M1
|
APN |
17 |
36,982,768 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02383:H2-M1
|
APN |
17 |
36,981,141 (GRCm39) |
missense |
unknown |
|
IGL02417:H2-M1
|
APN |
17 |
36,983,026 (GRCm39) |
missense |
possibly damaging |
0.95 |
R0193:H2-M1
|
UTSW |
17 |
36,982,224 (GRCm39) |
missense |
probably benign |
0.34 |
R0715:H2-M1
|
UTSW |
17 |
36,981,120 (GRCm39) |
splice site |
probably benign |
|
R1271:H2-M1
|
UTSW |
17 |
36,982,137 (GRCm39) |
missense |
probably benign |
0.33 |
R1367:H2-M1
|
UTSW |
17 |
36,982,059 (GRCm39) |
missense |
probably benign |
0.00 |
R2120:H2-M1
|
UTSW |
17 |
36,980,929 (GRCm39) |
missense |
possibly damaging |
0.95 |
R4854:H2-M1
|
UTSW |
17 |
36,980,950 (GRCm39) |
missense |
probably benign |
0.03 |
R4899:H2-M1
|
UTSW |
17 |
36,982,112 (GRCm39) |
missense |
probably benign |
0.09 |
R4963:H2-M1
|
UTSW |
17 |
36,982,630 (GRCm39) |
missense |
probably benign |
|
R5243:H2-M1
|
UTSW |
17 |
36,982,193 (GRCm39) |
missense |
possibly damaging |
0.73 |
R6199:H2-M1
|
UTSW |
17 |
36,982,059 (GRCm39) |
missense |
probably benign |
0.00 |
R6276:H2-M1
|
UTSW |
17 |
36,982,602 (GRCm39) |
missense |
possibly damaging |
0.79 |
R6395:H2-M1
|
UTSW |
17 |
36,982,701 (GRCm39) |
missense |
probably benign |
0.39 |
R6818:H2-M1
|
UTSW |
17 |
36,981,327 (GRCm39) |
missense |
probably damaging |
1.00 |
R7913:H2-M1
|
UTSW |
17 |
36,981,129 (GRCm39) |
splice site |
probably null |
|
R9419:H2-M1
|
UTSW |
17 |
36,981,231 (GRCm39) |
missense |
probably damaging |
1.00 |
R9640:H2-M1
|
UTSW |
17 |
36,983,031 (GRCm39) |
missense |
probably benign |
0.02 |
R9648:H2-M1
|
UTSW |
17 |
36,982,248 (GRCm39) |
missense |
probably benign |
0.01 |
R9746:H2-M1
|
UTSW |
17 |
36,980,997 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
Posted On |
2015-04-16 |