Incidental Mutation 'IGL03200:H2-M10.6'
ID 412941
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol H2-M10.6
Ensembl Gene ENSMUSG00000037130
Gene Name histocompatibility 2, M region locus 10.6
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.049) question?
Stock # IGL03200
Quality Score
Status
Chromosome 17
Chromosomal Location 37123067-37126458 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 37124908 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Glutamic Acid at position 275 (G275E)
Ref Sequence ENSEMBL: ENSMUSP00000039908 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041398]
AlphaFold Q85ZW5
Predicted Effect probably damaging
Transcript: ENSMUST00000041398
AA Change: G275E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000039908
Gene: ENSMUSG00000037130
AA Change: G275E

DomainStartEndE-ValueType
Pfam:MHC_I 24 202 2.2e-47 PFAM
IGc1 221 292 9.31e-22 SMART
transmembrane domain 305 327 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 17 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb5 A G 12: 118,928,989 (GRCm39) probably benign Het
Degs1 A T 1: 182,107,256 (GRCm39) M1K probably null Het
Eif3e A T 15: 43,115,657 (GRCm39) W370R probably damaging Het
Itga8 C T 2: 12,196,010 (GRCm39) V647I probably benign Het
Kcnip2 T G 19: 45,782,502 (GRCm39) K190Q probably damaging Het
Mbd1 T G 18: 74,409,502 (GRCm39) S251A probably benign Het
Mcpt9 T A 14: 56,264,390 (GRCm39) H235L probably benign Het
Ndst1 A T 18: 60,832,611 (GRCm39) I573N possibly damaging Het
Ntan1 C T 16: 13,652,591 (GRCm39) P229L probably damaging Het
Rbl2 T C 8: 91,823,395 (GRCm39) I441T probably benign Het
Spmap2l T A 5: 77,208,711 (GRCm39) V413D possibly damaging Het
Sulf1 C T 1: 12,856,841 (GRCm39) R31* probably null Het
Taok1 G A 11: 77,466,478 (GRCm39) Q124* probably null Het
Tmem140 A G 6: 34,849,814 (GRCm39) E110G possibly damaging Het
U2surp G A 9: 95,373,444 (GRCm39) R242* probably null Het
Ywhag G A 5: 135,939,914 (GRCm39) R227* probably null Het
Zfp456 C T 13: 67,514,596 (GRCm39) R370H probably benign Het
Other mutations in H2-M10.6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01018:H2-M10.6 APN 17 37,123,112 (GRCm39) missense probably benign 0.13
IGL01590:H2-M10.6 APN 17 37,123,641 (GRCm39) missense probably benign 0.05
IGL03278:H2-M10.6 APN 17 37,124,715 (GRCm39) missense probably damaging 0.99
R0018:H2-M10.6 UTSW 17 37,124,941 (GRCm39) missense probably damaging 1.00
R0144:H2-M10.6 UTSW 17 37,123,133 (GRCm39) missense probably damaging 0.99
R0194:H2-M10.6 UTSW 17 37,124,934 (GRCm39) missense probably damaging 1.00
R1168:H2-M10.6 UTSW 17 37,124,052 (GRCm39) missense probably benign
R1757:H2-M10.6 UTSW 17 37,124,043 (GRCm39) missense probably benign 0.00
R1773:H2-M10.6 UTSW 17 37,123,076 (GRCm39) missense probably benign 0.00
R2029:H2-M10.6 UTSW 17 37,124,799 (GRCm39) missense possibly damaging 0.47
R3409:H2-M10.6 UTSW 17 37,124,893 (GRCm39) missense probably damaging 1.00
R3856:H2-M10.6 UTSW 17 37,123,396 (GRCm39) missense probably benign 0.18
R4373:H2-M10.6 UTSW 17 37,123,958 (GRCm39) missense probably damaging 1.00
R4869:H2-M10.6 UTSW 17 37,123,425 (GRCm39) missense probably benign 0.04
R5684:H2-M10.6 UTSW 17 37,124,746 (GRCm39) missense probably damaging 1.00
R6020:H2-M10.6 UTSW 17 37,123,959 (GRCm39) missense probably damaging 1.00
R6180:H2-M10.6 UTSW 17 37,125,178 (GRCm39) missense probably damaging 1.00
R6328:H2-M10.6 UTSW 17 37,124,836 (GRCm39) missense probably damaging 0.96
R8245:H2-M10.6 UTSW 17 37,124,155 (GRCm39) critical splice donor site probably null
R9687:H2-M10.6 UTSW 17 37,125,147 (GRCm39) missense probably benign 0.01
R9705:H2-M10.6 UTSW 17 37,123,642 (GRCm39) missense probably benign 0.09
Posted On 2016-08-02