Incidental Mutation 'IGL01946:H2-T10'
ID |
180961 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
H2-T10
|
Ensembl Gene |
ENSMUSG00000079491 |
Gene Name |
histocompatibility 2, T region locus 10 |
Synonyms |
H-2T10 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.064)
|
Stock # |
IGL01946
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
36426763-36432336 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 36431608 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Valine
at position 82
(A82V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000127602
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046131]
[ENSMUST00000166442]
[ENSMUST00000173128]
[ENSMUST00000174382]
|
AlphaFold |
F6T1I5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000046131
|
SMART Domains |
Protein: ENSMUSP00000040558 Gene: ENSMUSG00000092243
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
Pfam:MHC_I
|
26 |
204 |
2.3e-81 |
PFAM |
IGc1
|
220 |
285 |
8.12e-13 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000166442
AA Change: A82V
PolyPhen 2
Score 0.454 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000127602 Gene: ENSMUSG00000079491 AA Change: A82V
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
Pfam:MHC_I
|
29 |
191 |
6.2e-49 |
PFAM |
IGc1
|
210 |
281 |
4.18e-24 |
SMART |
transmembrane domain
|
294 |
313 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000173128
|
SMART Domains |
Protein: ENSMUSP00000134339 Gene: ENSMUSG00000092277
Domain | Start | End | E-Value | Type |
low complexity region
|
103 |
115 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000174382
AA Change: A82V
PolyPhen 2
Score 0.071 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000133893 Gene: ENSMUSG00000079491 AA Change: A82V
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
Pfam:MHC_I
|
29 |
205 |
9.5e-47 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174625
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174728
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2ml1 |
C |
T |
6: 128,547,442 (GRCm39) |
E343K |
possibly damaging |
Het |
Abcc9 |
T |
C |
6: 142,571,763 (GRCm39) |
I1087V |
probably benign |
Het |
Bcam |
A |
C |
7: 19,494,042 (GRCm39) |
Y416* |
probably null |
Het |
Bhlhe22 |
T |
A |
3: 18,109,960 (GRCm39) |
C337S |
probably damaging |
Het |
Cerkl |
T |
C |
2: 79,223,364 (GRCm39) |
D119G |
probably benign |
Het |
Cog6 |
T |
C |
3: 52,909,825 (GRCm39) |
|
probably benign |
Het |
Dchs1 |
T |
C |
7: 105,408,312 (GRCm39) |
D1840G |
probably damaging |
Het |
Dhx16 |
G |
T |
17: 36,196,396 (GRCm39) |
M521I |
probably benign |
Het |
Dnaja2 |
A |
G |
8: 86,273,329 (GRCm39) |
I196T |
probably damaging |
Het |
Fbxw7 |
T |
C |
3: 84,811,369 (GRCm39) |
Y165H |
possibly damaging |
Het |
Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
Gm3371 |
A |
G |
14: 44,646,178 (GRCm39) |
Y96H |
probably damaging |
Het |
Hydin |
A |
G |
8: 111,217,350 (GRCm39) |
T1413A |
possibly damaging |
Het |
Krt23 |
T |
A |
11: 99,383,665 (GRCm39) |
M76L |
possibly damaging |
Het |
Lipe |
A |
T |
7: 25,082,701 (GRCm39) |
M504K |
possibly damaging |
Het |
Lrrc37 |
T |
A |
11: 103,503,759 (GRCm39) |
R560S |
probably benign |
Het |
Lta4h |
T |
A |
10: 93,307,232 (GRCm39) |
|
probably benign |
Het |
Ltbp2 |
T |
C |
12: 84,877,522 (GRCm39) |
T348A |
probably damaging |
Het |
Mybpc2 |
C |
A |
7: 44,159,322 (GRCm39) |
|
probably benign |
Het |
Or51r1 |
T |
C |
7: 102,227,734 (GRCm39) |
|
probably null |
Het |
Or52r1b |
T |
A |
7: 102,691,357 (GRCm39) |
S219T |
probably damaging |
Het |
Pdp2 |
G |
A |
8: 105,320,824 (GRCm39) |
M224I |
probably benign |
Het |
Pimreg |
C |
T |
11: 71,935,804 (GRCm39) |
|
probably benign |
Het |
Pld1 |
A |
T |
3: 28,178,766 (GRCm39) |
S887C |
probably damaging |
Het |
Ppp1r3g |
G |
A |
13: 36,152,978 (GRCm39) |
A133T |
possibly damaging |
Het |
Prpf8 |
G |
A |
11: 75,390,818 (GRCm39) |
G1323D |
probably damaging |
Het |
Rab3ip |
A |
G |
10: 116,773,300 (GRCm39) |
|
probably null |
Het |
Rpain |
A |
G |
11: 70,861,358 (GRCm39) |
H9R |
possibly damaging |
Het |
Scin |
T |
C |
12: 40,110,490 (GRCm39) |
|
probably benign |
Het |
Serpinb6d |
A |
G |
13: 33,855,369 (GRCm39) |
T348A |
probably benign |
Het |
Smad3 |
A |
G |
9: 63,664,835 (GRCm39) |
L42P |
probably damaging |
Het |
Smr3a |
C |
T |
5: 88,156,014 (GRCm39) |
|
probably benign |
Het |
Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
Vmn2r13 |
G |
A |
5: 109,322,085 (GRCm39) |
T204I |
probably benign |
Het |
Zfhx3 |
A |
G |
8: 109,660,561 (GRCm39) |
N1272D |
probably damaging |
Het |
|
Other mutations in H2-T10 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01296:H2-T10
|
APN |
17 |
36,431,602 (GRCm39) |
missense |
probably benign |
0.08 |
IGL03367:H2-T10
|
APN |
17 |
36,431,285 (GRCm39) |
missense |
possibly damaging |
0.81 |
IGL03381:H2-T10
|
APN |
17 |
36,430,249 (GRCm39) |
nonsense |
probably null |
|
IGL03381:H2-T10
|
APN |
17 |
36,430,246 (GRCm39) |
missense |
probably benign |
|
FR4304:H2-T10
|
UTSW |
17 |
36,431,173 (GRCm39) |
frame shift |
probably null |
|
R0305:H2-T10
|
UTSW |
17 |
36,430,260 (GRCm39) |
missense |
probably damaging |
1.00 |
R1446:H2-T10
|
UTSW |
17 |
36,430,266 (GRCm39) |
missense |
possibly damaging |
0.87 |
R1483:H2-T10
|
UTSW |
17 |
36,432,038 (GRCm39) |
missense |
probably benign |
0.44 |
R2038:H2-T10
|
UTSW |
17 |
36,430,317 (GRCm39) |
missense |
probably benign |
0.00 |
R2402:H2-T10
|
UTSW |
17 |
36,428,631 (GRCm39) |
splice site |
probably null |
|
R4755:H2-T10
|
UTSW |
17 |
36,429,837 (GRCm39) |
nonsense |
probably null |
|
R4957:H2-T10
|
UTSW |
17 |
36,428,308 (GRCm39) |
utr 3 prime |
probably benign |
|
R5162:H2-T10
|
UTSW |
17 |
36,429,843 (GRCm39) |
splice site |
probably null |
|
R5568:H2-T10
|
UTSW |
17 |
36,430,079 (GRCm39) |
critical splice donor site |
probably null |
|
R6226:H2-T10
|
UTSW |
17 |
36,431,975 (GRCm39) |
missense |
probably damaging |
0.99 |
R6850:H2-T10
|
UTSW |
17 |
36,430,152 (GRCm39) |
missense |
probably damaging |
1.00 |
R7249:H2-T10
|
UTSW |
17 |
36,430,269 (GRCm39) |
missense |
probably damaging |
0.99 |
R7324:H2-T10
|
UTSW |
17 |
36,430,189 (GRCm39) |
missense |
probably damaging |
1.00 |
R7466:H2-T10
|
UTSW |
17 |
36,431,741 (GRCm39) |
missense |
probably benign |
0.10 |
R7679:H2-T10
|
UTSW |
17 |
36,430,216 (GRCm39) |
missense |
not run |
|
R7767:H2-T10
|
UTSW |
17 |
36,428,622 (GRCm39) |
missense |
probably benign |
0.02 |
R7901:H2-T10
|
UTSW |
17 |
36,431,143 (GRCm39) |
missense |
probably benign |
|
R8278:H2-T10
|
UTSW |
17 |
36,429,832 (GRCm39) |
missense |
probably benign |
0.00 |
R8315:H2-T10
|
UTSW |
17 |
36,429,905 (GRCm39) |
missense |
probably benign |
0.41 |
R9646:H2-T10
|
UTSW |
17 |
36,431,157 (GRCm39) |
missense |
probably damaging |
0.96 |
RF032:H2-T10
|
UTSW |
17 |
36,431,186 (GRCm39) |
frame shift |
probably null |
|
RF046:H2-T10
|
UTSW |
17 |
36,431,186 (GRCm39) |
frame shift |
probably null |
|
|
Posted On |
2014-05-07 |