Incidental Mutation 'IGL00962:H2-Q2'
| ID |
29324 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
H2-Q2
|
| Ensembl Gene |
ENSMUSG00000091705 |
| Gene Name |
histocompatibility 2, Q region locus 2 |
| Synonyms |
Gm11132, H-2Q2 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.073)
|
| Stock # |
IGL00962
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
35561283-35565740 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 35561825 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 105
(Y105C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000078138
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074806]
|
| AlphaFold |
Q4KN81 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000074806
AA Change: Y105C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000078138
Gene: ENSMUSG00000091705
AA Change: Y105C
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
16 |
N/A |
INTRINSIC |
|
Pfam:MHC_I
|
22 |
200 |
2.4e-90 |
PFAM |
|
IGc1
|
219 |
290 |
4.05e-22 |
SMART |
|
low complexity region
|
306 |
325 |
N/A |
INTRINSIC |
|
Pfam:MHC_I_C
|
334 |
358 |
1.6e-9 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173115
|
| SMART Domains |
Protein: ENSMUSP00000133989
Gene: ENSMUSG00000091705
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1hdma1
|
2 |
19 |
5e-6 |
SMART |
|
low complexity region
|
22 |
41 |
N/A |
INTRINSIC |
|
Pfam:MHC_I_C
|
50 |
74 |
1.5e-10 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afg3l2 |
C |
T |
18: 67,564,723 (GRCm39) |
|
probably null |
Het |
| Atp8b1 |
C |
T |
18: 64,664,515 (GRCm39) |
A1218T |
probably damaging |
Het |
| AY761185 |
T |
C |
8: 21,434,611 (GRCm39) |
D39G |
possibly damaging |
Het |
| Fam167a |
G |
A |
14: 63,699,904 (GRCm39) |
E155K |
probably damaging |
Het |
| Fat3 |
C |
T |
9: 15,826,815 (GRCm39) |
G4379D |
probably benign |
Het |
| Fkbp10 |
A |
G |
11: 100,312,643 (GRCm39) |
T300A |
probably benign |
Het |
| Gm6665 |
T |
C |
18: 31,953,204 (GRCm39) |
K57R |
probably benign |
Het |
| Gnb4 |
T |
C |
3: 32,647,318 (GRCm39) |
T86A |
probably benign |
Het |
| Ighv1-75 |
A |
G |
12: 115,797,883 (GRCm39) |
|
probably benign |
Het |
| Ilvbl |
A |
G |
10: 78,419,172 (GRCm39) |
T474A |
possibly damaging |
Het |
| Shld2 |
A |
T |
14: 33,971,208 (GRCm39) |
V559E |
probably damaging |
Het |
| Slc45a3 |
T |
A |
1: 131,905,265 (GRCm39) |
V96D |
probably damaging |
Het |
| Tmtc3 |
C |
T |
10: 100,307,815 (GRCm39) |
G201R |
probably damaging |
Het |
| Tnfsf14 |
G |
A |
17: 57,499,906 (GRCm39) |
Q83* |
probably null |
Het |
| Trpm2 |
A |
G |
10: 77,779,750 (GRCm39) |
|
probably benign |
Het |
| Ubr5 |
A |
T |
15: 37,986,178 (GRCm39) |
F2219I |
probably damaging |
Het |
| Utrn |
C |
T |
10: 12,357,078 (GRCm39) |
V2747I |
possibly damaging |
Het |
| Vcan |
T |
C |
13: 89,810,171 (GRCm39) |
N3207D |
probably damaging |
Het |
| Vmn1r35 |
A |
G |
6: 66,656,361 (GRCm39) |
V103A |
possibly damaging |
Het |
| Vmn2r97 |
A |
G |
17: 19,149,490 (GRCm39) |
T293A |
probably damaging |
Het |
| Wdr35 |
A |
G |
12: 9,071,726 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in H2-Q2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01148:H2-Q2
|
APN |
17 |
35,561,654 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02081:H2-Q2
|
APN |
17 |
35,561,684 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03406:H2-Q2
|
APN |
17 |
35,561,801 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0145:H2-Q2
|
UTSW |
17 |
35,564,152 (GRCm39) |
missense |
probably benign |
0.24 |
|
R0646:H2-Q2
|
UTSW |
17 |
35,564,661 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1889:H2-Q2
|
UTSW |
17 |
35,564,152 (GRCm39) |
missense |
probably benign |
0.24 |
|
R2055:H2-Q2
|
UTSW |
17 |
35,564,247 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2152:H2-Q2
|
UTSW |
17 |
35,564,252 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3898:H2-Q2
|
UTSW |
17 |
35,561,743 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4710:H2-Q2
|
UTSW |
17 |
35,562,278 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5267:H2-Q2
|
UTSW |
17 |
35,562,155 (GRCm39) |
missense |
probably benign |
0.21 |
|
R5302:H2-Q2
|
UTSW |
17 |
35,563,885 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6134:H2-Q2
|
UTSW |
17 |
35,562,217 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6453:H2-Q2
|
UTSW |
17 |
35,563,871 (GRCm39) |
missense |
probably benign |
0.07 |
|
R6633:H2-Q2
|
UTSW |
17 |
35,561,363 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6979:H2-Q2
|
UTSW |
17 |
35,564,623 (GRCm39) |
splice site |
probably null |
|
|
R8248:H2-Q2
|
UTSW |
17 |
35,563,841 (GRCm39) |
missense |
probably benign |
|
|
R8306:H2-Q2
|
UTSW |
17 |
35,561,301 (GRCm39) |
unclassified |
probably benign |
|
|
R8714:H2-Q2
|
UTSW |
17 |
35,562,338 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9640:H2-Q2
|
UTSW |
17 |
35,562,206 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:H2-Q2
|
UTSW |
17 |
35,564,651 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:H2-Q2
|
UTSW |
17 |
35,561,318 (GRCm39) |
missense |
unknown |
|
|
| Posted On |
2013-04-17 |
Incidental Mutation