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 |
Incidental Mutation