Incidental Mutation 'IGL01671:H2-M1'
ID103485
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: 0.063) question?
Stock #IGL01671
Quality Score
Status
Chromosome17
Chromosomal Location36670008-36672219 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 36670438 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 235 (E235G)
Ref Sequence ENSEMBL: ENSMUSP00000040435 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041662]
Predicted Effect probably damaging
Transcript: ENSMUST00000041662
AA Change: E235G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000040435
Gene: ENSMUSG00000037334
AA Change: E235G

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: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cdc7 C T 5: 106,983,245 P529S probably damaging Het
Defb45 T C 2: 152,593,411 K26E probably benign Het
Dnajb8 T C 6: 88,222,920 L146S probably benign Het
Egln1 T C 8: 124,910,715 D399G probably benign Het
Ephb1 A T 9: 101,996,787 C563S probably damaging Het
Gad2 T A 2: 22,623,699 Y49* probably null Het
Gga2 A G 7: 121,994,856 S470P probably benign Het
Gm21276 G T 7: 38,764,727 noncoding transcript Het
Gm3115 G A 14: 4,084,189 C9Y probably benign Het
Hfe2 T C 3: 96,528,491 V355A probably damaging Het
Hsp90b1 C T 10: 86,704,325 G41S probably benign Het
Mccc1 T C 3: 35,964,460 D575G probably benign Het
Metap2 T C 10: 93,871,478 probably benign Het
Myh7 T C 14: 54,972,924 T1775A probably damaging Het
Olfr1469 T A 19: 13,410,891 F107L probably benign Het
Olfr170 A G 16: 19,605,921 I249T probably benign Het
Olfr935 A G 9: 38,994,853 V194A probably benign Het
Pak7 T C 2: 136,116,373 D265G possibly damaging Het
Pex1 A G 5: 3,624,088 I793V probably benign Het
Prkdc A G 16: 15,667,745 I479V possibly damaging Het
Rhcg A C 7: 79,598,551 I435S probably benign Het
Slc9c1 A T 16: 45,560,315 T535S probably benign Het
Stab2 T C 10: 86,969,277 D279G possibly damaging Het
Wdr83 T C 8: 85,075,819 probably benign Het
Other mutations in H2-M1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01147:H2-M1 APN 17 36671307 missense possibly damaging 0.92
IGL01870:H2-M1 APN 17 36670063 missense probably benign 0.38
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
Posted On2014-01-21