Incidental Mutation 'IGL01870:H2-M1'
ID178669
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol H2-M1
Ensembl Gene ENSMUSG00000037334
Gene Namehistocompatibility 2, M region locus 1
SynonymsH-2M1, Mb1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.058) question?
Stock #IGL01870
Quality Score
Status
Chromosome17
Chromosomal Location36670008-36672219 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 36670063 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Lysine at position 327 (M327K)
Ref Sequence ENSEMBL: ENSMUSP00000040435 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041662]
Predicted Effect probably benign
Transcript: ENSMUST00000041662
AA Change: M327K

PolyPhen 2 Score 0.375 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000040435
Gene: ENSMUSG00000037334
AA Change: M327K

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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agtr1a A G 13: 30,381,327 D125G probably damaging Het
Arhgap31 T C 16: 38,618,242 K300E probably damaging Het
Cma2 C A 14: 55,973,737 S162Y probably benign Het
Cntn4 A G 6: 106,489,715 T193A possibly damaging Het
Col22a1 T A 15: 71,952,528 M556L probably benign Het
Dld A G 12: 31,335,467 S292P possibly damaging Het
Dnah6 A T 6: 73,032,569 D3746E probably benign Het
Eea1 A G 10: 95,973,986 T9A probably damaging Het
Fam102a T C 2: 32,566,282 S319P probably benign Het
Gbf1 A G 19: 46,285,669 K1714R probably benign Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gm12794 T A 4: 101,940,690 L95H probably benign Het
Ifnz T A 4: 88,783,311 S176T possibly damaging Het
Irak4 T C 15: 94,547,870 Y10H probably benign Het
Irx5 T C 8: 92,359,777 F163L probably damaging Het
Jak3 C T 8: 71,680,790 P376S probably damaging Het
Lrrc25 T C 8: 70,617,787 S73P possibly damaging Het
Macf1 C T 4: 123,474,113 G2285D probably damaging Het
Muc4 A T 16: 32,753,196 T1025S probably benign Het
Mylk2 A G 2: 152,915,214 N303S probably benign Het
Olfr111 G A 17: 37,530,664 R229H probably benign Het
Pcnx T C 12: 81,975,893 V1512A probably benign Het
Phlda3 A G 1: 135,766,638 S64G probably benign Het
Pptc7 C A 5: 122,313,602 S40R probably damaging Het
Ptpn4 A C 1: 119,675,547 probably null Het
Slc10a1 T C 12: 80,960,528 M160V probably benign Het
Stac T C 9: 111,572,332 I349V probably benign Het
Synm A G 7: 67,736,118 S157P possibly damaging Het
Tbc1d9b T C 11: 50,162,088 L924P probably damaging Het
Tcaf2 C T 6: 42,624,477 V883I possibly damaging Het
Upp1 T C 11: 9,125,700 probably null Het
Whamm C T 7: 81,595,974 T726I probably damaging Het
Other mutations in H2-M1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01147:H2-M1 APN 17 36671307 missense possibly damaging 0.92
IGL01671:H2-M1 APN 17 36670438 missense probably damaging 1.00
IGL02032:H2-M1 APN 17 36671876 missense probably damaging 1.00
IGL02383:H2-M1 APN 17 36670249 missense unknown
IGL02417:H2-M1 APN 17 36672134 missense possibly damaging 0.95
IGL02700:H2-M1 APN 17 36671269 missense possibly damaging 0.93
R0193:H2-M1 UTSW 17 36671332 missense probably benign 0.34
R0715:H2-M1 UTSW 17 36670228 splice site probably benign
R1271:H2-M1 UTSW 17 36671245 missense probably benign 0.33
R1367:H2-M1 UTSW 17 36671167 missense probably benign 0.00
R2120:H2-M1 UTSW 17 36670037 missense possibly damaging 0.95
R4854:H2-M1 UTSW 17 36670058 missense probably benign 0.03
R4899:H2-M1 UTSW 17 36671220 missense probably benign 0.09
R4963:H2-M1 UTSW 17 36671738 missense probably benign
R5243:H2-M1 UTSW 17 36671301 missense possibly damaging 0.73
R6199:H2-M1 UTSW 17 36671167 missense probably benign 0.00
R6276:H2-M1 UTSW 17 36671710 missense possibly damaging 0.79
R6395:H2-M1 UTSW 17 36671809 missense probably benign 0.39
R6818:H2-M1 UTSW 17 36670435 missense probably damaging 1.00
R7913:H2-M1 UTSW 17 36670237 splice site probably null
R7994:H2-M1 UTSW 17 36670237 splice site probably null
Posted On2014-05-07