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 question?
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
AlleleSourceChrCoordTypePredicted EffectPPH 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