Incidental Mutation 'IGL02003:H2-Q10'
| ID |
182173 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
H2-Q10
|
| Ensembl Gene |
ENSMUSG00000067235 |
| Gene Name |
histocompatibility 2, Q region locus 10 |
| Synonyms |
H-2Q10, Q10, Qa10 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02003
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
35780986-35785460 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 35781338 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 47
(I47V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134163
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068291]
[ENSMUST00000174525]
|
| AlphaFold |
P01898 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000068291
AA Change: I47V
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000066419
Gene: ENSMUSG00000067235
AA Change: I47V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
9 |
18 |
N/A |
INTRINSIC |
|
Pfam:MHC_I
|
25 |
203 |
5.8e-98 |
PFAM |
|
IGc1
|
222 |
293 |
8.23e-23 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174525
AA Change: I47V
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000134163
Gene: ENSMUSG00000067235
AA Change: I47V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
9 |
18 |
N/A |
INTRINSIC |
|
Pfam:MHC_I
|
25 |
203 |
3.3e-99 |
PFAM |
|
IGc1
|
222 |
293 |
8.23e-23 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174589
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Unlike other class I genes, this gene is expressed only in liver cells and its product is secreted into the serum. The amount of protein in serum varies among inbred strains with different H2 haplotypes and is completely absent in the H2f strain B10.M. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930449E01Rik |
A |
G |
14: 105,736,392 (GRCm39) |
|
noncoding transcript |
Het |
| Adam1b |
G |
A |
5: 121,639,354 (GRCm39) |
L564F |
probably damaging |
Het |
| Alms1 |
C |
T |
6: 85,599,205 (GRCm39) |
P1344S |
possibly damaging |
Het |
| Cnnm2 |
G |
T |
19: 46,856,998 (GRCm39) |
G699W |
probably damaging |
Het |
| Crybg2 |
A |
G |
4: 133,799,767 (GRCm39) |
K309R |
probably benign |
Het |
| Csnk2a1 |
C |
T |
2: 152,118,890 (GRCm39) |
R333* |
probably null |
Het |
| Eif3m |
C |
T |
2: 104,843,188 (GRCm39) |
|
probably benign |
Het |
| Fgfr2 |
T |
C |
7: 129,820,802 (GRCm39) |
D244G |
probably damaging |
Het |
| Hmcn2 |
C |
T |
2: 31,318,994 (GRCm39) |
T3898I |
possibly damaging |
Het |
| Isyna1 |
G |
A |
8: 71,049,407 (GRCm39) |
V440M |
possibly damaging |
Het |
| Itpr3 |
A |
G |
17: 27,340,449 (GRCm39) |
K2654E |
probably damaging |
Het |
| Lrrd1 |
C |
T |
5: 3,899,857 (GRCm39) |
T54I |
probably damaging |
Het |
| Lrrk2 |
G |
A |
15: 91,615,694 (GRCm39) |
V843M |
probably damaging |
Het |
| Morc2b |
A |
T |
17: 33,357,298 (GRCm39) |
V158D |
probably benign |
Het |
| Mroh7 |
T |
C |
4: 106,559,726 (GRCm39) |
T734A |
probably damaging |
Het |
| Mylk3 |
T |
C |
8: 86,085,727 (GRCm39) |
D136G |
probably benign |
Het |
| Nos1 |
T |
C |
5: 118,043,530 (GRCm39) |
S602P |
probably damaging |
Het |
| Nsmaf |
T |
C |
4: 6,418,522 (GRCm39) |
I428V |
probably benign |
Het |
| Nup93 |
T |
G |
8: 95,028,737 (GRCm39) |
Y323* |
probably null |
Het |
| Or5ac21 |
G |
A |
16: 59,123,996 (GRCm39) |
G161D |
probably damaging |
Het |
| Or7g21 |
A |
T |
9: 19,032,361 (GRCm39) |
M34L |
probably benign |
Het |
| Or8b50 |
C |
T |
9: 38,518,136 (GRCm39) |
A125V |
probably damaging |
Het |
| Ppm1m |
C |
A |
9: 106,076,356 (GRCm39) |
G13W |
probably damaging |
Het |
| Prok1 |
T |
G |
3: 107,142,979 (GRCm39) |
H75P |
probably damaging |
Het |
| Ptprb |
A |
T |
10: 116,203,410 (GRCm39) |
I1774F |
probably damaging |
Het |
| Rasl10b |
A |
T |
11: 83,308,679 (GRCm39) |
E73V |
probably damaging |
Het |
| Rhbdl3 |
A |
G |
11: 80,228,342 (GRCm39) |
T271A |
possibly damaging |
Het |
| Serpina3a |
A |
G |
12: 104,082,259 (GRCm39) |
M11V |
probably benign |
Het |
| Setdb2 |
T |
C |
14: 59,650,939 (GRCm39) |
E464G |
probably damaging |
Het |
| Slc8a1 |
A |
G |
17: 81,735,625 (GRCm39) |
I749T |
possibly damaging |
Het |
| Slco6d1 |
T |
A |
1: 98,408,493 (GRCm39) |
I463N |
probably damaging |
Het |
| Sncb |
A |
T |
13: 54,910,743 (GRCm39) |
V51E |
probably damaging |
Het |
| Stk32c |
A |
G |
7: 138,768,069 (GRCm39) |
S71P |
possibly damaging |
Het |
| Tet1 |
A |
G |
10: 62,652,179 (GRCm39) |
V1613A |
possibly damaging |
Het |
| Vmn2r91 |
T |
A |
17: 18,327,921 (GRCm39) |
I505K |
probably benign |
Het |
| Zfp110 |
A |
T |
7: 12,583,832 (GRCm39) |
K827* |
probably null |
Het |
| Zfp438 |
A |
T |
18: 5,214,503 (GRCm39) |
C152S |
probably benign |
Het |
|
| Other mutations in H2-Q10 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01893:H2-Q10
|
APN |
17 |
35,784,168 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02308:H2-Q10
|
APN |
17 |
35,784,463 (GRCm39) |
makesense |
probably null |
|
|
IGL02804:H2-Q10
|
APN |
17 |
35,784,147 (GRCm39) |
missense |
probably damaging |
1.00 |
|
gomez
|
UTSW |
17 |
35,784,917 (GRCm39) |
utr 3 prime |
probably benign |
|
|
lurch
|
UTSW |
17 |
35,781,915 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0278:H2-Q10
|
UTSW |
17 |
35,784,204 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R1679:H2-Q10
|
UTSW |
17 |
35,784,492 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R1919:H2-Q10
|
UTSW |
17 |
35,781,385 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3781:H2-Q10
|
UTSW |
17 |
35,781,915 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R3782:H2-Q10
|
UTSW |
17 |
35,781,915 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4614:H2-Q10
|
UTSW |
17 |
35,784,917 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R4814:H2-Q10
|
UTSW |
17 |
35,784,481 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R4870:H2-Q10
|
UTSW |
17 |
35,781,357 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6063:H2-Q10
|
UTSW |
17 |
35,781,026 (GRCm39) |
missense |
probably benign |
0.13 |
|
R7448:H2-Q10
|
UTSW |
17 |
35,784,457 (GRCm39) |
missense |
not run |
|
|
R7728:H2-Q10
|
UTSW |
17 |
35,781,735 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8034:H2-Q10
|
UTSW |
17 |
35,781,338 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8172:H2-Q10
|
UTSW |
17 |
35,781,996 (GRCm39) |
missense |
probably null |
1.00 |
|
R8233:H2-Q10
|
UTSW |
17 |
35,781,983 (GRCm39) |
missense |
probably benign |
0.28 |
|
R8400:H2-Q10
|
UTSW |
17 |
35,781,374 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2014-05-07 |
Incidental Mutation