Incidental Mutation 'IGL03381:H2-T10'
| ID |
420676 |
| 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: 0.069)
|
| Stock # |
IGL03381
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
36426763-36432336 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 36430246 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Asparagine
at position 232
(D232N)
|
| 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 |
probably benign
Transcript: ENSMUST00000166442
AA Change: D232N
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000127602
Gene: ENSMUSG00000079491
AA Change: D232N
| 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
|
| SMART Domains |
Protein: ENSMUSP00000133893
Gene: ENSMUSG00000079491
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A330017A19Rik |
T |
C |
17: 47,200,812 (GRCm39) |
|
probably benign |
Het |
| Abca16 |
T |
C |
7: 120,127,041 (GRCm39) |
F1243S |
probably benign |
Het |
| Adgrv1 |
A |
G |
13: 81,666,086 (GRCm39) |
V1990A |
probably damaging |
Het |
| Arhgdib |
G |
A |
6: 136,909,314 (GRCm39) |
T69I |
probably benign |
Het |
| Atf2 |
G |
A |
2: 73,659,012 (GRCm39) |
A214V |
probably benign |
Het |
| Ccr2 |
G |
A |
9: 123,906,409 (GRCm39) |
V230I |
probably benign |
Het |
| Cnksr1 |
T |
C |
4: 133,959,482 (GRCm39) |
E384G |
probably damaging |
Het |
| Epha5 |
T |
A |
5: 84,479,191 (GRCm39) |
D271V |
probably damaging |
Het |
| Fut2 |
C |
T |
7: 45,300,193 (GRCm39) |
G193E |
possibly damaging |
Het |
| Gpr15 |
A |
G |
16: 58,538,339 (GRCm39) |
F250S |
probably damaging |
Het |
| Gzmf |
A |
T |
14: 56,444,450 (GRCm39) |
V41E |
probably benign |
Het |
| Hsd3b6 |
A |
G |
3: 98,715,128 (GRCm39) |
V88A |
possibly damaging |
Het |
| Kit |
C |
T |
5: 75,767,788 (GRCm39) |
T57M |
probably benign |
Het |
| Klhl22 |
A |
G |
16: 17,610,591 (GRCm39) |
D614G |
possibly damaging |
Het |
| Matr3 |
T |
A |
18: 35,712,078 (GRCm39) |
|
probably benign |
Het |
| Mff |
A |
G |
1: 82,719,661 (GRCm39) |
Y213C |
probably damaging |
Het |
| Mrnip |
A |
G |
11: 50,090,417 (GRCm39) |
T194A |
probably benign |
Het |
| Msh6 |
T |
C |
17: 88,292,537 (GRCm39) |
F431L |
probably damaging |
Het |
| Mttp |
G |
A |
3: 137,810,704 (GRCm39) |
R637C |
probably damaging |
Het |
| Nlrc3 |
A |
G |
16: 3,782,179 (GRCm39) |
V410A |
probably benign |
Het |
| Or4c120 |
A |
G |
2: 89,001,523 (GRCm39) |
I11T |
possibly damaging |
Het |
| Or52a5b |
T |
C |
7: 103,417,044 (GRCm39) |
I187V |
probably benign |
Het |
| Or5b108 |
T |
A |
19: 13,168,769 (GRCm39) |
V246D |
probably damaging |
Het |
| Pramel21 |
T |
C |
4: 143,343,625 (GRCm39) |
|
probably benign |
Het |
| Psip1 |
T |
C |
4: 83,404,022 (GRCm39) |
T2A |
probably benign |
Het |
| Rbm33 |
T |
C |
5: 28,599,390 (GRCm39) |
F921L |
unknown |
Het |
| Rhbdl2 |
T |
C |
4: 123,716,610 (GRCm39) |
V189A |
possibly damaging |
Het |
| Rpap2 |
C |
T |
5: 107,768,067 (GRCm39) |
P302S |
probably benign |
Het |
| Sec23ip |
T |
A |
7: 128,352,029 (GRCm39) |
V32D |
probably damaging |
Het |
| Sh3yl1 |
T |
C |
12: 30,976,836 (GRCm39) |
I47T |
possibly damaging |
Het |
| Spmip4 |
T |
C |
6: 50,566,116 (GRCm39) |
S120G |
probably damaging |
Het |
| Tenm2 |
A |
C |
11: 35,959,238 (GRCm39) |
S1104A |
probably benign |
Het |
| Ufd1 |
A |
G |
16: 18,644,507 (GRCm39) |
D190G |
probably damaging |
Het |
| Ugt1a7c |
T |
C |
1: 88,023,512 (GRCm39) |
F224L |
probably benign |
Het |
| Utp20 |
G |
T |
10: 88,657,867 (GRCm39) |
F64L |
probably damaging |
Het |
| Vmn1r198 |
A |
G |
13: 22,539,006 (GRCm39) |
Y164C |
probably benign |
Het |
| Wdcp |
T |
A |
12: 4,901,926 (GRCm39) |
V594D |
probably damaging |
Het |
| Xirp2 |
A |
C |
2: 67,344,570 (GRCm39) |
E2270D |
probably benign |
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 |
|
IGL01946:H2-T10
|
APN |
17 |
36,431,608 (GRCm39) |
missense |
possibly damaging |
0.45 |
|
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 |
|
|
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 |
2016-08-02 |
Incidental Mutation