Incidental Mutation 'IGL01018:H2-M10.6'
ID278238
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: 0.054) question?
Stock #IGL01018
Quality Score
Status
Chromosome17
Chromosomal Location36812171-36815564 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 36812220 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Valine at position 15 (A15V)
Ref Sequence ENSEMBL: ENSMUSP00000039908 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041398]
Predicted Effect probably benign
Transcript: ENSMUST00000041398
AA Change: A15V

PolyPhen 2 Score 0.126 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000039908
Gene: ENSMUSG00000037130
AA Change: A15V

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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931408C20Rik T C 1: 26,682,910 E1063G probably damaging Het
5530400C23Rik G T 6: 133,294,497 R168I probably benign Het
5530400C23Rik A T 6: 133,294,498 R168S probably benign Het
9230019H11Rik C T 10: 3,125,193 noncoding transcript Het
9230019H11Rik A G 10: 3,120,231 noncoding transcript Het
9230019H11Rik A G 10: 3,120,209 noncoding transcript Het
9230019H11Rik G A 10: 3,125,031 noncoding transcript Het
Armt1 C T 10: 4,454,237 probably benign Het
Armt1 T A 10: 4,450,732 S160T probably benign Het
Ccdc170 T C 10: 4,512,788 W35R probably benign Het
Ccdc170 G T 10: 4,514,155 A99S probably benign Het
Ccdc170 T C 10: 4,514,114 V31A probably benign Het
Glp2r C A 11: 67,709,644 V460F probably benign Het
Gm21411 T C 4: 146,892,577 Q80R probably benign Het
Gm21411 C T 4: 146,892,610 S69N possibly damaging Het
Gm21671 G T 5: 25,950,723 H208N probably benign Het
Gm21738 G A 14: 19,418,856 P24L probably benign Het
H60c A C 10: 3,260,343 F69V probably benign Het
H60c T C 10: 3,259,766 M174V probably benign Het
Ipcef1 C T 10: 6,919,968 R144Q probably damaging Het
Ipcef1 G A 10: 6,890,551 A382V probably benign Het
Mapk8ip3 T G 17: 24,899,719 probably benign Het
Mthfd1l T C 10: 4,032,345 probably benign Het
Mthfd1l T C 10: 3,978,708 V100A probably benign Het
Mthfd1l T C 10: 4,007,800 V279A probably benign Het
Mtrf1l A G 10: 5,814,180 probably benign Het
Myo18b T C 5: 112,809,747 E1450G probably damaging Het
Obscn C T 11: 59,128,069 V973M probably damaging Het
Olfr414 G A 1: 174,431,342 V305I probably benign Het
Oprm1 T C 10: 7,037,170 probably benign Het
Pou5f2 A G 13: 78,025,938 probably benign Het
Ralgapa2 G A 2: 146,410,193 H891Y probably benign Het
Ralgapa2 T G 2: 146,410,192 H806P probably benign Het
Rmnd1 A T 10: 4,427,290 S130T probably benign Het
Rmnd1 A G 10: 4,427,392 W96R probably benign Het
Trappc12 A C 12: 28,691,854 probably benign Het
Vip A G 10: 5,642,480 D40G probably benign Het
Vmn2r125 T A 4: 156,351,226 L300M probably benign Het
Vmn2r125 T C 4: 156,350,612 probably benign Het
Vmn2r125 C T 4: 156,351,038 T237I probably benign Het
Vmn2r125 A T 4: 156,351,037 T237S probably benign Het
Vmn2r125 A C 4: 156,350,900 Q191P probably benign Het
Vmn2r125 C A 4: 156,350,899 Q191K probably benign Het
Vmn2r125 A G 4: 156,350,845 N173D probably damaging Het
Vmn2r40 G A 7: 8,908,176 S706F probably damaging Het
Vmn2r-ps159 A T 4: 156,338,146 noncoding transcript Het
Vmn2r-ps159 C A 4: 156,338,435 noncoding transcript Het
Vmn2r-ps159 T C 4: 156,334,263 noncoding transcript Het
Vmn2r-ps159 T C 4: 156,335,590 noncoding transcript Het
Vmn2r-ps159 G A 4: 156,334,605 noncoding transcript Het
Zfp14 T A 7: 30,038,101 R486S probably damaging Het
Other mutations in H2-M10.6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01590:H2-M10.6 APN 17 36812749 missense probably benign 0.05
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
R8245:H2-M10.6 UTSW 17 36813263 critical splice donor site probably null
Posted On2015-04-16