Incidental Mutation 'IGL02700:H2-M1'
ID 304087
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol H2-M1
Ensembl Gene ENSMUSG00000037334
Gene Name histocompatibility 2, M region locus 1
Synonyms Mb1, H-2M1
Accession Numbers
Essential gene? Probably non essential (E-score: 0.059) question?
Stock # IGL02700
Quality Score
Status
Chromosome 17
Chromosomal Location 36980900-36983111 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 36982161 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 147 (I147V)
Ref Sequence ENSEMBL: ENSMUSP00000040435 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041662]
AlphaFold F7CXU4
Predicted Effect possibly damaging
Transcript: ENSMUST00000041662
AA Change: I147V

PolyPhen 2 Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000040435
Gene: ENSMUSG00000037334
AA Change: I147V

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:MHC_I 25 202 7.1e-47 PFAM
IGc1 221 292 3.53e-22 SMART
transmembrane domain 310 332 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700018B08Rik C A 8: 122,262,161 (GRCm39) probably null Het
Acacb A G 5: 114,356,942 (GRCm39) Y1291C probably damaging Het
Agtpbp1 C T 13: 59,676,233 (GRCm39) C179Y probably damaging Het
Capn15 T C 17: 26,181,982 (GRCm39) D609G probably damaging Het
Cnnm3 T A 1: 36,552,189 (GRCm39) F400I probably damaging Het
Dst A C 1: 34,301,201 (GRCm39) E1189A probably damaging Het
Gcnt1 G A 19: 17,306,780 (GRCm39) T315I probably damaging Het
Hk1 T C 10: 62,120,590 (GRCm39) N536D probably damaging Het
Klhl5 C T 5: 65,288,773 (GRCm39) Q12* probably null Het
Lgals12 C T 19: 7,575,455 (GRCm39) A294T probably benign Het
Mideas T C 12: 84,199,636 (GRCm39) N1028S probably benign Het
Mki67 G T 7: 135,309,931 (GRCm39) S173R probably benign Het
Nedd4l C T 18: 65,342,751 (GRCm39) R755C probably damaging Het
Obox5 A G 7: 15,492,888 (GRCm39) D281G possibly damaging Het
Or4f6 T C 2: 111,839,036 (GRCm39) D165G probably benign Het
Pacs2 T A 12: 113,025,330 (GRCm39) I494N probably damaging Het
Pax5 G T 4: 44,682,722 (GRCm39) T141K probably damaging Het
Phf21b T C 15: 84,687,662 (GRCm39) N230S probably benign Het
Rab3gap1 G T 1: 127,866,342 (GRCm39) A841S probably benign Het
Siglecf T C 7: 43,001,802 (GRCm39) L204P probably damaging Het
Slc39a10 G A 1: 46,857,288 (GRCm39) A696V probably damaging Het
Snca G A 6: 60,804,521 (GRCm39) T22I possibly damaging Het
Syvn1 A G 19: 6,097,973 (GRCm39) T4A probably benign Het
Usp36 T C 11: 118,166,983 (GRCm39) N298S possibly damaging Het
Usp42 A T 5: 143,702,883 (GRCm39) S579R probably benign Het
Vezf1 T C 11: 87,964,129 (GRCm39) S94P probably damaging Het
Other mutations in H2-M1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01147:H2-M1 APN 17 36,982,199 (GRCm39) missense possibly damaging 0.92
IGL01671:H2-M1 APN 17 36,981,330 (GRCm39) missense probably damaging 1.00
IGL01870:H2-M1 APN 17 36,980,955 (GRCm39) missense probably benign 0.38
IGL02032:H2-M1 APN 17 36,982,768 (GRCm39) missense probably damaging 1.00
IGL02383:H2-M1 APN 17 36,981,141 (GRCm39) missense unknown
IGL02417:H2-M1 APN 17 36,983,026 (GRCm39) missense possibly damaging 0.95
R0193:H2-M1 UTSW 17 36,982,224 (GRCm39) missense probably benign 0.34
R0715:H2-M1 UTSW 17 36,981,120 (GRCm39) splice site probably benign
R1271:H2-M1 UTSW 17 36,982,137 (GRCm39) missense probably benign 0.33
R1367:H2-M1 UTSW 17 36,982,059 (GRCm39) missense probably benign 0.00
R2120:H2-M1 UTSW 17 36,980,929 (GRCm39) missense possibly damaging 0.95
R4854:H2-M1 UTSW 17 36,980,950 (GRCm39) missense probably benign 0.03
R4899:H2-M1 UTSW 17 36,982,112 (GRCm39) missense probably benign 0.09
R4963:H2-M1 UTSW 17 36,982,630 (GRCm39) missense probably benign
R5243:H2-M1 UTSW 17 36,982,193 (GRCm39) missense possibly damaging 0.73
R6199:H2-M1 UTSW 17 36,982,059 (GRCm39) missense probably benign 0.00
R6276:H2-M1 UTSW 17 36,982,602 (GRCm39) missense possibly damaging 0.79
R6395:H2-M1 UTSW 17 36,982,701 (GRCm39) missense probably benign 0.39
R6818:H2-M1 UTSW 17 36,981,327 (GRCm39) missense probably damaging 1.00
R7913:H2-M1 UTSW 17 36,981,129 (GRCm39) splice site probably null
R9419:H2-M1 UTSW 17 36,981,231 (GRCm39) missense probably damaging 1.00
R9640:H2-M1 UTSW 17 36,983,031 (GRCm39) missense probably benign 0.02
R9648:H2-M1 UTSW 17 36,982,248 (GRCm39) missense probably benign 0.01
R9746:H2-M1 UTSW 17 36,980,997 (GRCm39) missense possibly damaging 0.88
Posted On 2015-04-16