Incidental Mutation 'R4117:H2-T15'
ID |
315147 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
H2-T15
|
Ensembl Gene |
|
Gene Name |
histocompatibility 2, T region locus 15 |
Synonyms |
H2-T27, H-2T15, Gm11127 |
MMRRC Submission |
040991-MU
|
Accession Numbers |
|
Essential gene? |
Not available
|
Stock # |
R4117 (G1)
|
Quality Score |
124 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
36366708-36369263 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 36368496 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 144
(D144G)
|
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 |
probably damaging
Transcript: ENSMUST00000113742
AA Change: D144G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000109371 Gene: ENSMUSG00000079492 AA Change: D144G
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 |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
Validation Efficiency |
97% (31/32) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acss2 |
T |
C |
2: 155,398,313 (GRCm39) |
F358L |
probably damaging |
Het |
Adamts16 |
A |
G |
13: 70,916,111 (GRCm39) |
Y775H |
probably benign |
Het |
Bard1 |
A |
T |
1: 71,085,922 (GRCm39) |
H594Q |
probably damaging |
Het |
Cd109 |
CATTTATTTATTTATTTATTTATTTATTTATTTAT |
CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT |
9: 78,619,782 (GRCm39) |
|
probably benign |
Het |
Cenpt |
G |
A |
8: 106,576,332 (GRCm39) |
S73L |
probably benign |
Het |
Ctdnep1 |
C |
A |
11: 69,879,497 (GRCm39) |
A7D |
probably damaging |
Het |
Fam210b |
T |
C |
2: 172,193,486 (GRCm39) |
S100P |
probably benign |
Het |
Fyb1 |
A |
C |
15: 6,659,597 (GRCm39) |
D434A |
probably damaging |
Het |
Heph |
T |
C |
X: 95,544,221 (GRCm39) |
V615A |
probably benign |
Het |
Icam5 |
T |
A |
9: 20,948,886 (GRCm39) |
V746E |
probably damaging |
Het |
Maml2 |
A |
G |
9: 13,617,230 (GRCm39) |
Q192R |
probably damaging |
Het |
Npas4 |
T |
C |
19: 5,037,391 (GRCm39) |
Y301C |
probably damaging |
Het |
Nup205 |
C |
T |
6: 35,217,947 (GRCm39) |
Q1767* |
probably null |
Het |
Or51f5 |
T |
A |
7: 102,423,684 (GRCm39) |
|
probably null |
Het |
Pigg |
A |
G |
5: 108,495,908 (GRCm39) |
R982G |
probably benign |
Het |
Plekhg2 |
A |
T |
7: 28,060,313 (GRCm39) |
H1005Q |
probably benign |
Het |
Rdh12 |
C |
T |
12: 79,260,419 (GRCm39) |
R172C |
probably damaging |
Het |
Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
Semp2l2b |
T |
A |
10: 21,943,615 (GRCm39) |
N122Y |
probably benign |
Het |
Septin4 |
T |
C |
11: 87,459,108 (GRCm39) |
F494S |
probably damaging |
Het |
Serpinb9 |
T |
A |
13: 33,199,579 (GRCm39) |
D291E |
probably benign |
Het |
She |
A |
T |
3: 89,759,679 (GRCm39) |
Y394F |
probably damaging |
Het |
Sipa1l2 |
T |
C |
8: 126,195,249 (GRCm39) |
S830G |
probably damaging |
Het |
Stmn4 |
T |
C |
14: 66,598,581 (GRCm39) |
*217Q |
probably null |
Het |
Stx17 |
A |
G |
4: 48,180,689 (GRCm39) |
D178G |
probably damaging |
Het |
Tbc1d9 |
T |
G |
8: 83,992,776 (GRCm39) |
I960S |
possibly damaging |
Het |
Ubxn10 |
G |
T |
4: 138,448,276 (GRCm39) |
D133E |
probably benign |
Het |
Vmn2r42 |
T |
C |
7: 8,197,839 (GRCm39) |
Y260C |
probably damaging |
Het |
Vmn2r7 |
A |
C |
3: 64,623,138 (GRCm39) |
|
probably benign |
Het |
Zfp143 |
C |
T |
7: 109,691,120 (GRCm39) |
T557I |
probably damaging |
Het |
Zfp607b |
A |
G |
7: 27,398,107 (GRCm39) |
I64V |
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 |
IGL02007:H2-T15
|
APN |
17 |
36,367,222 (GRCm39) |
missense |
possibly damaging |
0.50 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TACCTGAGTGTTGCTGAGCTTC -3'
(R):5'- AGTGTCAGAGGTCATGTCCC -3'
Sequencing Primer
(F):5'- CCTCCAACAATCTGTGGAGTG -3'
(R):5'- CTCACGAACTCACTGAAGGGATATG -3'
|
Posted On |
2015-05-14 |