Incidental Mutation 'IGL02651:H2-M10.4'
ID 302131
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol H2-M10.4
Ensembl Gene ENSMUSG00000048231
Gene Name histocompatibility 2, M region locus 10.4
Synonyms 15H
Accession Numbers
Essential gene? Probably non essential (E-score: 0.064) question?
Stock # IGL02651
Quality Score
Status
Chromosome 17
Chromosomal Location 36769809-36773221 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 36771548 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 210 (R210L)
Ref Sequence ENSEMBL: ENSMUSP00000130832 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057502] [ENSMUST00000169950]
AlphaFold Q85ZW8
Predicted Effect probably benign
Transcript: ENSMUST00000057502
AA Change: R210L

PolyPhen 2 Score 0.096 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000058686
Gene: ENSMUSG00000048231
AA Change: R210L

DomainStartEndE-ValueType
Pfam:MHC_I 25 203 5.7e-45 PFAM
IGc1 222 293 7.45e-21 SMART
transmembrane domain 306 328 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000169950
AA Change: R210L

PolyPhen 2 Score 0.096 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000130832
Gene: ENSMUSG00000048231
AA Change: R210L

DomainStartEndE-ValueType
Pfam:MHC_I 25 203 8.2e-45 PFAM
IGc1 222 293 7.45e-21 SMART
transmembrane domain 306 328 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A1cf G A 19: 31,909,906 (GRCm39) G233S probably benign Het
Abcc1 T A 16: 14,283,990 (GRCm39) C1202S probably benign Het
Acaca C T 11: 84,136,030 (GRCm39) probably benign Het
Ap3b1 T A 13: 94,613,529 (GRCm39) F676Y probably damaging Het
Arhgef11 C A 3: 87,606,171 (GRCm39) Q309K probably damaging Het
Asgr1 T C 11: 69,947,956 (GRCm39) Y80H possibly damaging Het
Atp13a5 A T 16: 29,152,909 (GRCm39) probably benign Het
Atp2a3 C A 11: 72,866,165 (GRCm39) H262N probably benign Het
Atp8b2 A C 3: 89,861,896 (GRCm39) probably null Het
Btnl2 A G 17: 34,575,196 (GRCm39) M1V probably null Het
Cpsf3 T A 12: 21,343,298 (GRCm39) M121K probably damaging Het
Creb3l3 A G 10: 80,920,668 (GRCm39) I454T probably benign Het
Cyp2d12 A G 15: 82,440,941 (GRCm39) E153G probably damaging Het
Dnah5 A G 15: 28,350,768 (GRCm39) I2597V probably benign Het
Ercc5 C A 1: 44,196,104 (GRCm39) S32R probably damaging Het
Fchsd2 T A 7: 100,926,807 (GRCm39) N656K possibly damaging Het
Fga G A 3: 82,935,841 (GRCm39) E23K probably benign Het
Fn1 T C 1: 71,636,835 (GRCm39) T1925A possibly damaging Het
Fstl5 A T 3: 76,500,841 (GRCm39) E423D probably damaging Het
Glg1 C T 8: 111,887,359 (GRCm39) M465I possibly damaging Het
Hbb-y T G 7: 103,501,957 (GRCm39) K105Q probably benign Het
Hspg2 A T 4: 137,284,756 (GRCm39) probably benign Het
Ipo11 T C 13: 107,012,114 (GRCm39) Y556C probably damaging Het
Itpr3 A G 17: 27,325,372 (GRCm39) M1322V probably damaging Het
Jhy A G 9: 40,828,631 (GRCm39) L425P probably damaging Het
Krt26 C T 11: 99,224,471 (GRCm39) R349Q probably benign Het
Ms4a6c A T 19: 11,455,669 (GRCm39) E159D possibly damaging Het
Msh6 A T 17: 88,296,943 (GRCm39) L1213F probably damaging Het
Npy1r A C 8: 67,157,675 (GRCm39) R328S possibly damaging Het
Or4a74 A T 2: 89,439,842 (GRCm39) N201K possibly damaging Het
Or5ak20 A C 2: 85,183,394 (GRCm39) L292R probably damaging Het
Pcdhb18 T G 18: 37,624,234 (GRCm39) Y521* probably null Het
Pkhd1l1 A T 15: 44,347,210 (GRCm39) Y192F probably damaging Het
Rdh12 T A 12: 79,268,826 (GRCm39) I301N probably damaging Het
Rptor T C 11: 119,783,438 (GRCm39) V1144A possibly damaging Het
Sap25 T C 5: 137,640,632 (GRCm39) F171L possibly damaging Het
Senp5 A G 16: 31,808,897 (GRCm39) L92P probably benign Het
Sfmbt1 T C 14: 30,537,494 (GRCm39) S736P probably damaging Het
Tacr1 T C 6: 82,469,622 (GRCm39) S169P probably damaging Het
Tbc1d21 A T 9: 58,270,384 (GRCm39) Y130* probably null Het
Tle2 G A 10: 81,422,723 (GRCm39) G428D probably damaging Het
Tmem117 T A 15: 94,992,442 (GRCm39) N367K probably damaging Het
Tmem210 A G 2: 25,179,101 (GRCm39) T130A possibly damaging Het
Ttn T G 2: 76,680,368 (GRCm39) probably benign Het
Ttyh1 T C 7: 4,127,678 (GRCm39) L122P probably damaging Het
Vmn2r60 T C 7: 41,845,010 (GRCm39) F791S probably damaging Het
Vps13d A T 4: 144,891,129 (GRCm39) N575K probably benign Het
Vps8 T C 16: 21,336,086 (GRCm39) V746A probably damaging Het
Wdfy3 A T 5: 102,044,341 (GRCm39) M1888K probably benign Het
Zfp595 T C 13: 67,469,017 (GRCm39) D3G probably benign Het
Other mutations in H2-M10.4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02329:H2-M10.4 APN 17 36,771,359 (GRCm39) missense probably damaging 1.00
IGL02821:H2-M10.4 APN 17 36,771,323 (GRCm39) missense probably damaging 1.00
IGL03123:H2-M10.4 APN 17 36,772,812 (GRCm39) missense probably damaging 0.99
IGL03171:H2-M10.4 APN 17 36,772,142 (GRCm39) missense probably damaging 0.98
R0206:H2-M10.4 UTSW 17 36,771,375 (GRCm39) missense probably damaging 1.00
R0208:H2-M10.4 UTSW 17 36,771,375 (GRCm39) missense probably damaging 1.00
R3979:H2-M10.4 UTSW 17 36,772,877 (GRCm39) missense probably benign 0.23
R4535:H2-M10.4 UTSW 17 36,772,736 (GRCm39) missense probably damaging 0.97
R4685:H2-M10.4 UTSW 17 36,772,688 (GRCm39) missense probably benign 0.23
R4702:H2-M10.4 UTSW 17 36,772,874 (GRCm39) missense probably benign 0.25
R5390:H2-M10.4 UTSW 17 36,771,533 (GRCm39) missense probably damaging 1.00
R5945:H2-M10.4 UTSW 17 36,771,518 (GRCm39) missense probably benign 0.01
R8135:H2-M10.4 UTSW 17 36,772,662 (GRCm39) missense probably benign
R8956:H2-M10.4 UTSW 17 36,772,245 (GRCm39) missense probably benign 0.08
R9342:H2-M10.4 UTSW 17 36,771,285 (GRCm39) missense probably damaging 1.00
R9801:H2-M10.4 UTSW 17 36,771,511 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16