Incidental Mutation 'IGL01671:H2-M1'
| ID |
103485 |
| 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 # |
IGL01671
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
36980900-36983111 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 36981330 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 235
(E235G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000040435
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041662]
|
| AlphaFold |
F7CXU4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000041662
AA Change: E235G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000040435
Gene: ENSMUSG00000037334
AA Change: E235G
| 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: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cdc7 |
C |
T |
5: 107,131,111 (GRCm39) |
P529S |
probably damaging |
Het |
| Defb45 |
T |
C |
2: 152,435,331 (GRCm39) |
K26E |
probably benign |
Het |
| Dnajb8 |
T |
C |
6: 88,199,902 (GRCm39) |
L146S |
probably benign |
Het |
| Egln1 |
T |
C |
8: 125,637,454 (GRCm39) |
D399G |
probably benign |
Het |
| Ephb1 |
A |
T |
9: 101,873,986 (GRCm39) |
C563S |
probably damaging |
Het |
| Gad2 |
T |
A |
2: 22,513,711 (GRCm39) |
Y49* |
probably null |
Het |
| Gga2 |
A |
G |
7: 121,594,079 (GRCm39) |
S470P |
probably benign |
Het |
| Gm21276 |
G |
T |
7: 38,464,151 (GRCm39) |
|
noncoding transcript |
Het |
| Gm3115 |
G |
A |
14: 4,084,189 (GRCm38) |
C9Y |
probably benign |
Het |
| Hjv |
T |
C |
3: 96,435,807 (GRCm39) |
V355A |
probably damaging |
Het |
| Hsp90b1 |
C |
T |
10: 86,540,189 (GRCm39) |
G41S |
probably benign |
Het |
| Mccc1 |
T |
C |
3: 36,018,609 (GRCm39) |
D575G |
probably benign |
Het |
| Metap2 |
T |
C |
10: 93,707,340 (GRCm39) |
|
probably benign |
Het |
| Myh7 |
T |
C |
14: 55,210,381 (GRCm39) |
T1775A |
probably damaging |
Het |
| Or2aj5 |
A |
G |
16: 19,424,671 (GRCm39) |
I249T |
probably benign |
Het |
| Or5b3 |
T |
A |
19: 13,388,255 (GRCm39) |
F107L |
probably benign |
Het |
| Or8g21 |
A |
G |
9: 38,906,149 (GRCm39) |
V194A |
probably benign |
Het |
| Pak5 |
T |
C |
2: 135,958,293 (GRCm39) |
D265G |
possibly damaging |
Het |
| Pex1 |
A |
G |
5: 3,674,088 (GRCm39) |
I793V |
probably benign |
Het |
| Prkdc |
A |
G |
16: 15,485,609 (GRCm39) |
I479V |
possibly damaging |
Het |
| Rhcg |
A |
C |
7: 79,248,299 (GRCm39) |
I435S |
probably benign |
Het |
| Slc9c1 |
A |
T |
16: 45,380,678 (GRCm39) |
T535S |
probably benign |
Het |
| Stab2 |
T |
C |
10: 86,805,141 (GRCm39) |
D279G |
possibly damaging |
Het |
| Wdr83 |
T |
C |
8: 85,802,448 (GRCm39) |
|
probably benign |
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 |
|
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 |
|
IGL02700:H2-M1
|
APN |
17 |
36,982,161 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
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 |
2014-01-21 |
Incidental Mutation