Incidental Mutation 'IGL02329:H2-M10.4'
ID 288587
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 # IGL02329
Quality Score
Status
Chromosome 17
Chromosomal Location 36769809-36773221 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 36771359 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 273 (V273D)
Ref Sequence ENSEMBL: ENSMUSP00000130832 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057502] [ENSMUST00000169950]
AlphaFold Q85ZW8
Predicted Effect probably damaging
Transcript: ENSMUST00000057502
AA Change: V273D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000058686
Gene: ENSMUSG00000048231
AA Change: V273D

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 damaging
Transcript: ENSMUST00000169950
AA Change: V273D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000130832
Gene: ENSMUSG00000048231
AA Change: V273D

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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atg2a T C 19: 6,299,959 (GRCm39) probably null Het
Bfsp1 T C 2: 143,704,566 (GRCm39) T96A probably benign Het
Btnl1 A G 17: 34,601,239 (GRCm39) E322G possibly damaging Het
Cand2 T C 6: 115,766,568 (GRCm39) V391A probably damaging Het
Ccdc169 A G 3: 55,078,702 (GRCm39) M188V probably benign Het
Cngb1 T C 8: 95,968,987 (GRCm39) I1174V probably benign Het
Cpeb4 T C 11: 31,822,316 (GRCm39) V10A possibly damaging Het
Cpt1b T C 15: 89,307,942 (GRCm39) T206A probably benign Het
Dapk3 T C 10: 81,025,999 (GRCm39) S97P probably benign Het
Drc3 T C 11: 60,261,404 (GRCm39) L185P probably damaging Het
Efr3b T C 12: 4,042,923 (GRCm39) probably null Het
Erbb3 T A 10: 128,409,088 (GRCm39) I742F probably damaging Het
Fktn A G 4: 53,720,181 (GRCm39) Y65C probably benign Het
Fstl5 G A 3: 76,496,302 (GRCm39) G355D probably damaging Het
Grm8 A T 6: 27,363,115 (GRCm39) I800N probably damaging Het
Gss C T 2: 155,409,773 (GRCm39) R221H probably benign Het
Large1 C A 8: 73,774,945 (GRCm39) W255L possibly damaging Het
Meig1 T C 2: 3,410,288 (GRCm39) K71E probably damaging Het
Mtor A G 4: 148,619,396 (GRCm39) N1760D probably benign Het
Ncapd2 A T 6: 125,166,781 (GRCm39) N24K probably damaging Het
Nphp3 A C 9: 103,903,167 (GRCm39) S715R probably benign Het
Papolg T G 11: 23,841,869 (GRCm39) H18P probably damaging Het
Psd T C 19: 46,308,098 (GRCm39) H667R possibly damaging Het
Rita1 C T 5: 120,747,858 (GRCm39) A147T probably damaging Het
Rtp1 T C 16: 23,249,943 (GRCm39) S103P probably damaging Het
Snx21 T C 2: 164,634,310 (GRCm39) probably benign Het
Spmip3 A T 1: 177,570,867 (GRCm39) Q67L probably benign Het
Tiam1 G T 16: 89,596,924 (GRCm39) H301N probably benign Het
Trcg1 A T 9: 57,147,676 (GRCm39) I11F possibly damaging Het
Trpm6 A G 19: 18,831,581 (GRCm39) K1482R probably benign Het
Tyw1 G T 5: 130,295,921 (GRCm39) G116V probably benign Het
Zfp341 T C 2: 154,474,224 (GRCm39) C343R possibly damaging Het
Other mutations in H2-M10.4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02651:H2-M10.4 APN 17 36,771,548 (GRCm39) missense probably benign 0.10
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