Incidental Mutation 'IGL02003:H2-Q10'
ID182173
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol H2-Q10
Ensembl Gene ENSMUSG00000067235
Gene Namehistocompatibility 2, Q region locus 10
SynonymsH-2Q10, Qa10, Q10
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02003
Quality Score
Status
Chromosome17
Chromosomal Location35470089-35474563 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 35470441 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Valine at position 47 (I47V)
Ref Sequence ENSEMBL: ENSMUSP00000134163 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068291] [ENSMUST00000174525]
Predicted Effect probably benign
Transcript: ENSMUST00000068291
AA Change: I47V

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000066419
Gene: ENSMUSG00000067235
AA Change: I47V

DomainStartEndE-ValueType
low complexity region 9 18 N/A INTRINSIC
Pfam:MHC_I 25 203 5.8e-98 PFAM
IGc1 222 293 8.23e-23 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000174525
AA Change: I47V

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000134163
Gene: ENSMUSG00000067235
AA Change: I47V

DomainStartEndE-ValueType
low complexity region 9 18 N/A INTRINSIC
Pfam:MHC_I 25 203 3.3e-99 PFAM
IGc1 222 293 8.23e-23 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174589
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Unlike other class I genes, this gene is expressed only in liver cells and its product is secreted into the serum. The amount of protein in serum varies among inbred strains with different H2 haplotypes and is completely absent in the H2f strain B10.M. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930449E01Rik A G 14: 105,498,958 noncoding transcript Het
Adam1b G A 5: 121,501,291 L564F probably damaging Het
Alms1 C T 6: 85,622,223 P1344S possibly damaging Het
Cnnm2 G T 19: 46,868,559 G699W probably damaging Het
Crybg2 A G 4: 134,072,456 K309R probably benign Het
Csnk2a1 C T 2: 152,276,970 R333* probably null Het
Eif3m C T 2: 105,012,843 probably benign Het
Fgfr2 T C 7: 130,219,072 D244G probably damaging Het
Hmcn2 C T 2: 31,428,982 T3898I possibly damaging Het
Isyna1 G A 8: 70,596,757 V440M possibly damaging Het
Itpr3 A G 17: 27,121,475 K2654E probably damaging Het
Lrrd1 C T 5: 3,849,857 T54I probably damaging Het
Lrrk2 G A 15: 91,731,491 V843M probably damaging Het
Morc2b A T 17: 33,138,324 V158D probably benign Het
Mroh7 T C 4: 106,702,529 T734A probably damaging Het
Mylk3 T C 8: 85,359,098 D136G probably benign Het
Nos1 T C 5: 117,905,465 S602P probably damaging Het
Nsmaf T C 4: 6,418,522 I428V probably benign Het
Nup93 T G 8: 94,302,109 Y323* probably null Het
Olfr203 G A 16: 59,303,633 G161D probably damaging Het
Olfr836 A T 9: 19,121,065 M34L probably benign Het
Olfr914 C T 9: 38,606,840 A125V probably damaging Het
Ppm1m C A 9: 106,199,157 G13W probably damaging Het
Prok1 T G 3: 107,235,663 H75P probably damaging Het
Ptprb A T 10: 116,367,505 I1774F probably damaging Het
Rasl10b A T 11: 83,417,853 E73V probably damaging Het
Rhbdl3 A G 11: 80,337,516 T271A possibly damaging Het
Serpina3a A G 12: 104,116,000 M11V probably benign Het
Setdb2 T C 14: 59,413,490 E464G probably damaging Het
Slc8a1 A G 17: 81,428,196 I749T possibly damaging Het
Slco6d1 T A 1: 98,480,768 I463N probably damaging Het
Sncb A T 13: 54,762,930 V51E probably damaging Het
Stk32c A G 7: 139,188,153 S71P possibly damaging Het
Tet1 A G 10: 62,816,400 V1613A possibly damaging Het
Vmn2r91 T A 17: 18,107,659 I505K probably benign Het
Zfp110 A T 7: 12,849,905 K827* probably null Het
Zfp438 A T 18: 5,214,503 C152S probably benign Het
Other mutations in H2-Q10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01893:H2-Q10 APN 17 35473271 missense probably damaging 1.00
IGL02308:H2-Q10 APN 17 35473566 makesense probably null
IGL02804:H2-Q10 APN 17 35473250 missense probably damaging 1.00
gomez UTSW 17 35474020 utr 3 prime probably benign
lurch UTSW 17 35471018 missense possibly damaging 0.92
R0278:H2-Q10 UTSW 17 35473307 missense possibly damaging 0.83
R1679:H2-Q10 UTSW 17 35473595 utr 3 prime probably benign
R1919:H2-Q10 UTSW 17 35470488 missense probably damaging 1.00
R3781:H2-Q10 UTSW 17 35471018 missense possibly damaging 0.92
R3782:H2-Q10 UTSW 17 35471018 missense possibly damaging 0.92
R4614:H2-Q10 UTSW 17 35474020 utr 3 prime probably benign
R4814:H2-Q10 UTSW 17 35473584 utr 3 prime probably benign
R4870:H2-Q10 UTSW 17 35470460 missense probably damaging 1.00
R6063:H2-Q10 UTSW 17 35470129 missense probably benign 0.13
R7448:H2-Q10 UTSW 17 35473560 missense not run
R7728:H2-Q10 UTSW 17 35470838 missense probably damaging 0.98
R8034:H2-Q10 UTSW 17 35470441 missense probably damaging 1.00
R8172:H2-Q10 UTSW 17 35471099 missense probably null 1.00
R8233:H2-Q10 UTSW 17 35471086 missense probably benign 0.28
R8400:H2-Q10 UTSW 17 35470477 missense probably damaging 1.00
Posted On2014-05-07