Incidental Mutation 'IGL01148:H2-Q2'
| ID |
53139 |
| 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 # |
IGL01148
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
35561283-35565740 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 35561654 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 48
(Y48C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000078138
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074806]
|
| AlphaFold |
Q4KN81 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000074806
AA Change: Y48C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000078138
Gene: ENSMUSG00000091705
AA Change: Y48C
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acap1 |
A |
T |
11: 69,781,729 (GRCm39) |
C64* |
probably null |
Het |
| Ccng2 |
G |
A |
5: 93,418,746 (GRCm39) |
D124N |
probably damaging |
Het |
| Cttnbp2 |
G |
A |
6: 18,382,817 (GRCm39) |
P1317L |
probably damaging |
Het |
| Dsg1a |
T |
A |
18: 20,453,982 (GRCm39) |
V29E |
probably damaging |
Het |
| Exoc6b |
T |
C |
6: 84,885,208 (GRCm39) |
K244E |
probably benign |
Het |
| Fastkd5 |
A |
G |
2: 130,456,605 (GRCm39) |
F662L |
probably benign |
Het |
| Fbxl18 |
T |
C |
5: 142,871,580 (GRCm39) |
M488V |
probably damaging |
Het |
| Gas2l3 |
C |
T |
10: 89,249,366 (GRCm39) |
G584D |
probably benign |
Het |
| Gm28042 |
T |
C |
2: 119,869,519 (GRCm39) |
F405L |
possibly damaging |
Het |
| Gtf3c2 |
T |
C |
5: 31,317,168 (GRCm39) |
K635E |
probably damaging |
Het |
| Hddc2 |
T |
C |
10: 31,192,330 (GRCm39) |
I78T |
probably damaging |
Het |
| Hspg2 |
T |
A |
4: 137,273,969 (GRCm39) |
M2708K |
probably benign |
Het |
| Ift88 |
T |
C |
14: 57,677,189 (GRCm39) |
S119P |
probably benign |
Het |
| Mta2 |
T |
C |
19: 8,925,668 (GRCm39) |
C388R |
probably damaging |
Het |
| Mymx |
G |
T |
17: 45,912,594 (GRCm39) |
|
probably benign |
Het |
| Naga |
A |
G |
15: 82,214,861 (GRCm39) |
Y366H |
possibly damaging |
Het |
| Nlrp9a |
A |
G |
7: 26,257,006 (GRCm39) |
E208G |
probably damaging |
Het |
| Nr4a2 |
C |
T |
2: 57,001,983 (GRCm39) |
V94M |
probably benign |
Het |
| Or4c124 |
G |
T |
2: 89,156,368 (GRCm39) |
T52K |
probably benign |
Het |
| Osbpl8 |
G |
T |
10: 111,112,424 (GRCm39) |
|
probably benign |
Het |
| Pitpnb |
T |
A |
5: 111,486,222 (GRCm39) |
V42D |
probably damaging |
Het |
| Pitrm1 |
A |
G |
13: 6,623,141 (GRCm39) |
R801G |
probably benign |
Het |
| Pthlh |
G |
A |
6: 147,154,073 (GRCm39) |
T174M |
probably benign |
Het |
| Sco2 |
T |
C |
15: 89,255,924 (GRCm39) |
I243M |
probably benign |
Het |
| Sema5a |
G |
A |
15: 32,681,641 (GRCm39) |
V907M |
probably benign |
Het |
| Semp2l1 |
A |
G |
1: 32,584,735 (GRCm39) |
S392P |
possibly damaging |
Het |
| Spata31e2 |
T |
C |
1: 26,724,253 (GRCm39) |
E309G |
probably benign |
Het |
| Stac2 |
T |
A |
11: 97,934,387 (GRCm39) |
K106* |
probably null |
Het |
| Tas2r105 |
T |
A |
6: 131,663,815 (GRCm39) |
R204S |
probably damaging |
Het |
| Tgm5 |
A |
G |
2: 120,877,156 (GRCm39) |
|
probably null |
Het |
| Trpm1 |
A |
G |
7: 63,893,312 (GRCm39) |
I939V |
probably damaging |
Het |
| Ttll11 |
T |
A |
2: 35,674,205 (GRCm39) |
N574I |
probably damaging |
Het |
| Zfand3 |
A |
T |
17: 30,354,374 (GRCm39) |
T64S |
probably benign |
Het |
| Zfyve26 |
G |
A |
12: 79,307,644 (GRCm39) |
H312Y |
probably benign |
Het |
|
| Other mutations in H2-Q2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00962:H2-Q2
|
APN |
17 |
35,561,825 (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 |
2013-06-21 |
Incidental Mutation