Incidental Mutation 'IGL01590:H2-M10.6'
ID91562
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol H2-M10.6
Ensembl Gene ENSMUSG00000037130
Gene Namehistocompatibility 2, M region locus 10.6
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.055) question?
Stock #IGL01590
Quality Score
Status
Chromosome17
Chromosomal Location36812171-36815564 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 36812749 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Aspartic acid at position 112 (N112D)
Ref Sequence ENSEMBL: ENSMUSP00000039908 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041398]
Predicted Effect probably benign
Transcript: ENSMUST00000041398
AA Change: N112D

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000039908
Gene: ENSMUSG00000037130
AA Change: N112D

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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921504E06Rik T A 2: 19,477,779 probably benign Het
Adgrb2 T G 4: 130,013,813 probably benign Het
Apcs C T 1: 172,894,467 G104D probably damaging Het
Atp10b G A 11: 43,172,721 R161H probably benign Het
Cep250 A T 2: 155,992,317 Q2054L possibly damaging Het
Dennd6a T G 14: 26,619,352 V207G probably benign Het
Ehbp1 C A 11: 22,095,611 D688Y possibly damaging Het
Fam83a C A 15: 58,009,777 S334Y probably damaging Het
Fam83e T A 7: 45,723,936 F242Y probably null Het
Fnip1 A T 11: 54,493,300 D341V probably damaging Het
Gm17359 A C 3: 79,449,340 N150T probably damaging Het
Gm5286 G A 3: 94,198,367 probably benign Het
Gpatch3 A G 4: 133,580,717 probably benign Het
Gpc2 C A 5: 138,274,378 V558F probably damaging Het
Hs6st1 A T 1: 36,103,704 D240V probably damaging Het
Inpp5f T A 7: 128,664,307 probably null Het
Itga8 G T 2: 12,160,333 H822N probably damaging Het
Kif20b T A 19: 34,954,726 N1263K possibly damaging Het
Krt28 A G 11: 99,374,394 probably null Het
Muc5ac A T 7: 141,798,893 M706L probably benign Het
Olfr340 A T 2: 36,452,992 M136L probably benign Het
Olfr651 A C 7: 104,553,575 I219L probably benign Het
Prox2 A G 12: 85,088,071 W479R probably damaging Het
Rps19 A T 7: 24,888,456 D152V probably damaging Het
Slc20a1 G A 2: 129,209,226 probably benign Het
Slc7a2 C T 8: 40,914,100 P564S probably damaging Het
Slco1a5 C A 6: 142,250,319 M319I probably benign Het
Tanc1 A G 2: 59,785,473 T275A probably benign Het
Tenm3 A G 8: 48,228,802 S2598P probably damaging Het
Tiparp G A 3: 65,531,976 E56K probably benign Het
Trpm5 G A 7: 143,082,734 R489C probably damaging Het
Vmn2r84 C A 10: 130,386,095 G752V probably damaging Het
Wnt5b T A 6: 119,440,554 T130S possibly damaging Het
Other mutations in H2-M10.6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01018:H2-M10.6 APN 17 36812220 missense probably benign 0.13
IGL03200:H2-M10.6 APN 17 36814016 missense probably damaging 1.00
IGL03278:H2-M10.6 APN 17 36813823 missense probably damaging 0.99
R0018:H2-M10.6 UTSW 17 36814049 missense probably damaging 1.00
R0144:H2-M10.6 UTSW 17 36812241 missense probably damaging 0.99
R0194:H2-M10.6 UTSW 17 36814042 missense probably damaging 1.00
R1168:H2-M10.6 UTSW 17 36813160 missense probably benign
R1757:H2-M10.6 UTSW 17 36813151 missense probably benign 0.00
R1773:H2-M10.6 UTSW 17 36812184 missense probably benign 0.00
R2029:H2-M10.6 UTSW 17 36813907 missense possibly damaging 0.47
R3409:H2-M10.6 UTSW 17 36814001 missense probably damaging 1.00
R3856:H2-M10.6 UTSW 17 36812504 missense probably benign 0.18
R4373:H2-M10.6 UTSW 17 36813066 missense probably damaging 1.00
R4869:H2-M10.6 UTSW 17 36812533 missense probably benign 0.04
R5684:H2-M10.6 UTSW 17 36813854 missense probably damaging 1.00
R6020:H2-M10.6 UTSW 17 36813067 missense probably damaging 1.00
R6180:H2-M10.6 UTSW 17 36814286 missense probably damaging 1.00
R6328:H2-M10.6 UTSW 17 36813944 missense probably damaging 0.96
Posted On2013-12-09