Incidental Mutation 'IGL01657:H2-M11'
ID 103054
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol H2-M11
Ensembl Gene ENSMUSG00000037537
Gene Name histocompatibility 2, M region locus 11
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.051) question?
Stock # IGL01657
Quality Score
Status
Chromosome 17
Chromosomal Location 36857967-36860142 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 36858465 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 86 (D86E)
Ref Sequence ENSEMBL: ENSMUSP00000042522 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041964]
AlphaFold F6U8V3
Predicted Effect probably benign
Transcript: ENSMUST00000041964
AA Change: D86E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000042522
Gene: ENSMUSG00000037537
AA Change: D86E

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:MHC_I 25 203 2.8e-44 PFAM
IGc1 222 293 1.91e-18 SMART
transmembrane domain 308 330 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173968
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb3 A G 1: 25,865,574 (GRCm39) F90L probably benign Het
Anapc4 T A 5: 53,021,968 (GRCm39) Y683* probably null Het
Astn2 T G 4: 65,570,186 (GRCm39) D773A probably damaging Het
Atp2b3 T C X: 72,588,966 (GRCm39) probably benign Het
Atp8b5 T C 4: 43,291,693 (GRCm39) M22T probably benign Het
Birc6 T A 17: 74,967,606 (GRCm39) L4169H probably damaging Het
Cdc42bpa T C 1: 179,939,431 (GRCm39) V81A probably benign Het
Clcn2 A T 16: 20,532,369 (GRCm39) C80S probably damaging Het
Clu C T 14: 66,217,121 (GRCm39) A318V possibly damaging Het
Csnk1g2 A G 10: 80,475,463 (GRCm39) H378R probably benign Het
Decr2 T A 17: 26,301,926 (GRCm39) D268V probably damaging Het
Dpp3 T C 19: 4,968,332 (GRCm39) T247A possibly damaging Het
Eif4g1 A G 16: 20,500,966 (GRCm39) N774D possibly damaging Het
Epha4 A T 1: 77,403,475 (GRCm39) V344E probably damaging Het
Epha6 A C 16: 59,659,666 (GRCm39) N817K probably benign Het
Ggcx T A 6: 72,406,941 (GRCm39) probably null Het
Gm1965 C T 6: 89,123,648 (GRCm39) noncoding transcript Het
Gmnn T C 13: 24,937,687 (GRCm39) E101G probably damaging Het
Grik2 C T 10: 49,404,082 (GRCm39) probably null Het
Il6st T A 13: 112,618,077 (GRCm39) W164R probably damaging Het
Ilvbl G T 10: 78,412,602 (GRCm39) V108L possibly damaging Het
Klk10 A G 7: 43,431,013 (GRCm39) K19E possibly damaging Het
Mbd4 G T 6: 115,826,598 (GRCm39) T131N probably damaging Het
Ncapd3 T C 9: 26,983,120 (GRCm39) V956A possibly damaging Het
Nif3l1 A C 1: 58,494,771 (GRCm39) T247P probably damaging Het
Nrcam T C 12: 44,606,583 (GRCm39) V443A probably damaging Het
Or4c35 A G 2: 89,808,221 (GRCm39) Y33C probably damaging Het
Pigk T A 3: 152,428,157 (GRCm39) H61Q probably damaging Het
Pla2g4d C A 2: 120,105,768 (GRCm39) V431F possibly damaging Het
Pxt1 A T 17: 29,153,778 (GRCm39) H18Q possibly damaging Het
Rpusd4 T C 9: 35,184,757 (GRCm39) probably benign Het
Slc22a18 T G 7: 143,052,837 (GRCm39) L354R probably damaging Het
Slc26a10 A G 10: 127,010,903 (GRCm39) V443A probably damaging Het
Smpx A G X: 156,497,676 (GRCm39) probably benign Het
Sptan1 A G 2: 29,908,491 (GRCm39) S1751G probably benign Het
Ush2a C T 1: 188,558,658 (GRCm39) T3629I probably benign Het
Vcan C T 13: 89,838,705 (GRCm39) V2280M probably damaging Het
Vmn1r30 T C 6: 58,412,619 (GRCm39) E71G probably benign Het
Vmn2r100 A T 17: 19,746,178 (GRCm39) I446F possibly damaging Het
Vmn2r75 A T 7: 85,813,455 (GRCm39) V449D probably damaging Het
Other mutations in H2-M11
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00233:H2-M11 APN 17 36,858,445 (GRCm39) missense probably benign 0.00
IGL02249:H2-M11 APN 17 36,858,829 (GRCm39) missense probably benign 0.39
IGL03263:H2-M11 APN 17 36,859,805 (GRCm39) missense probably damaging 1.00
R0481:H2-M11 UTSW 17 36,859,846 (GRCm39) nonsense probably null
R0639:H2-M11 UTSW 17 36,858,283 (GRCm39) missense probably benign 0.00
R0866:H2-M11 UTSW 17 36,859,829 (GRCm39) missense probably benign 0.00
R0924:H2-M11 UTSW 17 36,860,106 (GRCm39) missense probably benign
R0925:H2-M11 UTSW 17 36,858,353 (GRCm39) missense probably benign 0.00
R1707:H2-M11 UTSW 17 36,859,658 (GRCm39) missense probably damaging 1.00
R2212:H2-M11 UTSW 17 36,859,822 (GRCm39) missense probably damaging 1.00
R2566:H2-M11 UTSW 17 36,859,042 (GRCm39) missense possibly damaging 0.76
R2567:H2-M11 UTSW 17 36,859,042 (GRCm39) missense possibly damaging 0.76
R3029:H2-M11 UTSW 17 36,859,042 (GRCm39) missense possibly damaging 0.76
R3030:H2-M11 UTSW 17 36,859,042 (GRCm39) missense possibly damaging 0.76
R3893:H2-M11 UTSW 17 36,857,982 (GRCm39) missense probably benign 0.01
R3946:H2-M11 UTSW 17 36,860,123 (GRCm39) missense probably damaging 1.00
R4647:H2-M11 UTSW 17 36,858,883 (GRCm39) missense probably benign 0.06
R4679:H2-M11 UTSW 17 36,859,042 (GRCm39) missense possibly damaging 0.76
R4868:H2-M11 UTSW 17 36,859,811 (GRCm39) missense probably damaging 1.00
R4876:H2-M11 UTSW 17 36,858,401 (GRCm39) missense probably benign 0.09
R5496:H2-M11 UTSW 17 36,858,871 (GRCm39) missense possibly damaging 0.73
R6514:H2-M11 UTSW 17 36,859,839 (GRCm39) missense probably damaging 1.00
R7779:H2-M11 UTSW 17 36,859,698 (GRCm39) missense probably benign 0.14
R8072:H2-M11 UTSW 17 36,859,026 (GRCm39) missense probably benign 0.13
R8210:H2-M11 UTSW 17 36,858,860 (GRCm39) missense probably damaging 0.98
R8249:H2-M11 UTSW 17 36,859,900 (GRCm39) missense probably damaging 1.00
R8425:H2-M11 UTSW 17 36,859,649 (GRCm39) missense probably benign 0.00
R8466:H2-M11 UTSW 17 36,858,985 (GRCm39) missense probably benign 0.35
R8906:H2-M11 UTSW 17 36,859,851 (GRCm39) nonsense probably null
R9688:H2-M11 UTSW 17 36,859,054 (GRCm39) missense probably damaging 1.00
Z1176:H2-M11 UTSW 17 36,859,662 (GRCm39) missense possibly damaging 0.81
Posted On 2014-01-21