Incidental Mutation 'IGL02007:H2-T15'
ID |
182238 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
H2-T15
|
Ensembl Gene |
|
Gene Name |
histocompatibility 2, T region locus 15 |
Synonyms |
H2-T27, H-2T15, Gm11127 |
Accession Numbers |
|
Essential gene? |
Not available
|
Stock # |
IGL02007
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
36366708-36369263 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 36367222 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 333
(N333K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000109371
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000097331]
[ENSMUST00000113742]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000097331
|
SMART Domains |
Protein: ENSMUSP00000094943 Gene: ENSMUSG00000073407
Domain | Start | End | E-Value | Type |
transmembrane domain
|
15 |
37 |
N/A |
INTRINSIC |
low complexity region
|
103 |
115 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000113742
AA Change: N333K
PolyPhen 2
Score 0.505 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000109371 Gene: ENSMUSG00000079492 AA Change: N333K
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
Pfam:MHC_I
|
26 |
204 |
6.4e-81 |
PFAM |
IGc1
|
220 |
291 |
2.53e-23 |
SMART |
transmembrane domain
|
306 |
328 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 28 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam28 |
C |
A |
14: 68,870,668 (GRCm39) |
R335L |
possibly damaging |
Het |
Adgrv1 |
T |
C |
13: 81,716,862 (GRCm39) |
|
probably benign |
Het |
Calcrl |
A |
G |
2: 84,205,668 (GRCm39) |
C8R |
probably benign |
Het |
Cntn4 |
T |
A |
6: 106,632,490 (GRCm39) |
S505T |
probably benign |
Het |
Cyp3a16 |
T |
C |
5: 145,378,758 (GRCm39) |
|
probably benign |
Het |
Dync2i2 |
A |
G |
2: 29,928,402 (GRCm39) |
S75P |
probably benign |
Het |
Fhip1a |
G |
T |
3: 85,629,752 (GRCm39) |
P280T |
probably damaging |
Het |
Gpatch11 |
A |
G |
17: 79,149,593 (GRCm39) |
T198A |
probably benign |
Het |
Heatr5a |
C |
A |
12: 51,962,941 (GRCm39) |
L986F |
probably damaging |
Het |
Ift172 |
A |
G |
5: 31,443,948 (GRCm39) |
I90T |
probably benign |
Het |
Igkv3-9 |
A |
G |
6: 70,565,445 (GRCm39) |
|
probably benign |
Het |
Iqsec1 |
G |
A |
6: 90,667,331 (GRCm39) |
P369S |
probably benign |
Het |
Myh1 |
C |
A |
11: 67,111,382 (GRCm39) |
T1607K |
probably benign |
Het |
Myo18b |
T |
C |
5: 113,022,838 (GRCm39) |
|
probably benign |
Het |
Nobox |
A |
G |
6: 43,284,472 (GRCm39) |
L58P |
probably damaging |
Het |
Nwd2 |
T |
A |
5: 63,962,042 (GRCm39) |
I542N |
possibly damaging |
Het |
Or4k51 |
A |
G |
2: 111,584,824 (GRCm39) |
T77A |
probably damaging |
Het |
Or5p54 |
A |
G |
7: 107,553,953 (GRCm39) |
Y35C |
probably damaging |
Het |
Osm |
C |
T |
11: 4,189,470 (GRCm39) |
R85W |
probably damaging |
Het |
Pcdh20 |
T |
C |
14: 88,707,031 (GRCm39) |
R90G |
probably benign |
Het |
Pkhd1l1 |
T |
C |
15: 44,397,129 (GRCm39) |
|
probably benign |
Het |
Sec14l2 |
A |
G |
11: 4,061,114 (GRCm39) |
S116P |
probably benign |
Het |
Selenbp2 |
A |
C |
3: 94,605,461 (GRCm39) |
N96H |
possibly damaging |
Het |
Smarcal1 |
T |
C |
1: 72,635,099 (GRCm39) |
S393P |
probably damaging |
Het |
Tbc1d1 |
A |
G |
5: 64,414,335 (GRCm39) |
Q103R |
probably damaging |
Het |
Tmem63c |
T |
C |
12: 87,119,647 (GRCm39) |
Y314H |
probably damaging |
Het |
Zfp663 |
A |
C |
2: 165,200,993 (GRCm39) |
S14A |
probably benign |
Het |
Zmynd10 |
A |
G |
9: 107,427,731 (GRCm39) |
N345S |
probably damaging |
Het |
|
Other mutations in H2-T15 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01859:H2-T15
|
APN |
17 |
36,368,903 (GRCm39) |
missense |
possibly damaging |
0.78 |
R1075:H2-T15
|
UTSW |
17 |
36,367,038 (GRCm39) |
missense |
probably benign |
0.05 |
R1829:H2-T15
|
UTSW |
17 |
36,368,896 (GRCm39) |
missense |
probably damaging |
1.00 |
R1944:H2-T15
|
UTSW |
17 |
36,368,897 (GRCm39) |
missense |
probably damaging |
1.00 |
R4117:H2-T15
|
UTSW |
17 |
36,368,496 (GRCm39) |
missense |
probably damaging |
1.00 |
R4584:H2-T15
|
UTSW |
17 |
36,368,559 (GRCm39) |
missense |
probably damaging |
1.00 |
R4626:H2-T15
|
UTSW |
17 |
36,368,788 (GRCm39) |
frame shift |
probably null |
|
R4649:H2-T15
|
UTSW |
17 |
36,368,768 (GRCm39) |
missense |
possibly damaging |
0.90 |
R4864:H2-T15
|
UTSW |
17 |
36,369,253 (GRCm39) |
utr 3 prime |
probably benign |
|
R5412:H2-T15
|
UTSW |
17 |
36,366,936 (GRCm39) |
missense |
probably benign |
0.01 |
R5430:H2-T15
|
UTSW |
17 |
36,366,967 (GRCm39) |
missense |
probably benign |
0.00 |
R5547:H2-T15
|
UTSW |
17 |
36,368,796 (GRCm39) |
missense |
possibly damaging |
0.63 |
R5896:H2-T15
|
UTSW |
17 |
36,367,236 (GRCm39) |
missense |
probably benign |
0.01 |
R5974:H2-T15
|
UTSW |
17 |
36,367,677 (GRCm39) |
missense |
probably benign |
0.05 |
R6456:H2-T15
|
UTSW |
17 |
36,367,502 (GRCm39) |
missense |
probably damaging |
1.00 |
R7073:H2-T15
|
UTSW |
17 |
36,369,235 (GRCm39) |
missense |
unknown |
|
R7217:H2-T15
|
UTSW |
17 |
36,367,235 (GRCm39) |
missense |
probably benign |
0.01 |
R7652:H2-T15
|
UTSW |
17 |
36,367,675 (GRCm39) |
missense |
probably damaging |
1.00 |
R8267:H2-T15
|
UTSW |
17 |
36,367,675 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
Posted On |
2014-05-07 |