Incidental Mutation 'IGL01683:H2-M2'
| ID |
103854 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
H2-M2
|
| Ensembl Gene |
ENSMUSG00000016283 |
| Gene Name |
histocompatibility 2, M region locus 2 |
| Synonyms |
Thy19.4, H-2M2 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.068)
|
| Stock # |
IGL01683
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
37791742-37794443 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 37792406 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 288
(H288Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131297
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000016427]
[ENSMUST00000171139]
|
| AlphaFold |
Q6W9L1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000016427
AA Change: H288Q
PolyPhen 2
Score 0.459 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000016427
Gene: ENSMUSG00000016283
AA Change: H288Q
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
Pfam:MHC_I
|
29 |
207 |
1.6e-77 |
PFAM |
|
IGc1
|
226 |
297 |
2.11e-20 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000171139
AA Change: H288Q
PolyPhen 2
Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000131297
Gene: ENSMUSG00000016283
AA Change: H288Q
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
Pfam:MHC_I
|
29 |
207 |
7.1e-76 |
PFAM |
|
IGc1
|
226 |
297 |
2.11e-20 |
SMART |
|
transmembrane domain
|
308 |
330 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc1 |
T |
A |
16: 14,214,288 (GRCm39) |
L188Q |
probably damaging |
Het |
| Abcc8 |
T |
A |
7: 45,801,091 (GRCm39) |
I446F |
possibly damaging |
Het |
| Ankrd34c |
T |
C |
9: 89,611,850 (GRCm39) |
T164A |
probably benign |
Het |
| Bsn |
C |
A |
9: 107,992,095 (GRCm39) |
R1219L |
possibly damaging |
Het |
| Cdk2ap1 |
C |
T |
5: 124,488,242 (GRCm39) |
|
probably benign |
Het |
| Ces2f |
T |
C |
8: 105,679,733 (GRCm39) |
F409L |
probably benign |
Het |
| Clcc1 |
G |
A |
3: 108,584,112 (GRCm39) |
A499T |
probably benign |
Het |
| Foxm1 |
T |
G |
6: 128,350,451 (GRCm39) |
I584S |
probably benign |
Het |
| Ftcd |
T |
C |
10: 76,415,963 (GRCm39) |
I199T |
probably damaging |
Het |
| Gjb6 |
C |
A |
14: 57,361,815 (GRCm39) |
A149S |
probably benign |
Het |
| Itprid2 |
T |
C |
2: 79,501,069 (GRCm39) |
|
probably benign |
Het |
| Os9 |
A |
G |
10: 126,935,972 (GRCm39) |
Y258H |
probably damaging |
Het |
| Phldb3 |
T |
C |
7: 24,318,862 (GRCm39) |
F337S |
possibly damaging |
Het |
| Pla2g4a |
T |
G |
1: 149,733,405 (GRCm39) |
Y448S |
probably benign |
Het |
| Sgk3 |
T |
A |
1: 9,952,091 (GRCm39) |
V239D |
probably damaging |
Het |
| Tek |
T |
C |
4: 94,747,148 (GRCm39) |
Y903H |
probably damaging |
Het |
| Tenm4 |
C |
A |
7: 96,534,611 (GRCm39) |
H1752Q |
possibly damaging |
Het |
| Tns1 |
C |
T |
1: 73,992,428 (GRCm39) |
R750Q |
probably damaging |
Het |
| Tubb2a |
A |
T |
13: 34,260,530 (GRCm39) |
|
probably null |
Het |
| Zfp106 |
T |
C |
2: 120,355,036 (GRCm39) |
N1245S |
probably benign |
Het |
|
| Other mutations in H2-M2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
Lock
|
UTSW |
17 |
37,792,399 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Nokia
|
UTSW |
17 |
37,792,197 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R0799:H2-M2
|
UTSW |
17 |
37,793,640 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0981:H2-M2
|
UTSW |
17 |
37,793,521 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1925:H2-M2
|
UTSW |
17 |
37,793,391 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2959:H2-M2
|
UTSW |
17 |
37,794,345 (GRCm39) |
missense |
probably benign |
0.20 |
|
R3968:H2-M2
|
UTSW |
17 |
37,792,197 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R4063:H2-M2
|
UTSW |
17 |
37,792,399 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4735:H2-M2
|
UTSW |
17 |
37,794,135 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R5806:H2-M2
|
UTSW |
17 |
37,792,617 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6410:H2-M2
|
UTSW |
17 |
37,794,104 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7432:H2-M2
|
UTSW |
17 |
37,792,361 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7456:H2-M2
|
UTSW |
17 |
37,792,552 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R7535:H2-M2
|
UTSW |
17 |
37,793,528 (GRCm39) |
missense |
probably benign |
0.07 |
|
R7680:H2-M2
|
UTSW |
17 |
37,793,916 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R8112:H2-M2
|
UTSW |
17 |
37,794,383 (GRCm39) |
missense |
unknown |
|
|
R8910:H2-M2
|
UTSW |
17 |
37,792,413 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9034:H2-M2
|
UTSW |
17 |
37,792,176 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9193:H2-M2
|
UTSW |
17 |
37,793,428 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9420:H2-M2
|
UTSW |
17 |
37,792,215 (GRCm39) |
missense |
probably benign |
0.08 |
|
R9487:H2-M2
|
UTSW |
17 |
37,793,424 (GRCm39) |
missense |
probably benign |
0.04 |
|
| Posted On |
2014-01-21 |
Incidental Mutation