Incidental Mutation 'IGL00950:H2-Q4'
ID29304
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol H2-Q4
Ensembl Gene ENSMUSG00000035929
Gene Namehistocompatibility 2, Q region locus 4
SynonymsH2-Gs10, Qa-4, Qb1, Qb-1, H-2Q4, Qa4, Qat-4
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.077) question?
Stock #IGL00950
Quality Score
Status
Chromosome17
Chromosomal Location35379617-35385290 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 35382858 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Alanine at position 232 (D232A)
Ref Sequence ENSEMBL: ENSMUSP00000080159 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081435]
Predicted Effect probably damaging
Transcript: ENSMUST00000081435
AA Change: D232A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000080159
Gene: ENSMUSG00000035929
AA Change: D232A

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Pfam:MHC_I 50 228 1.7e-93 PFAM
IGc1 247 318 8.55e-21 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000113886
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173975
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: This locus controls an antigen on peripheral T-cells of spleen, lymph node and bone marrow, but not on thymocytes. Strain distribution patterns vary by assay, measuring presence/absence of antigen, protein acidic/basic qualities and molecular polymorphisms. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts17 T C 7: 67,120,912 V923A possibly damaging Het
Als2 G A 1: 59,215,382 A272V probably benign Het
Chrne C T 11: 70,619,157 probably benign Het
D430042O09Rik T A 7: 125,843,221 D767E probably benign Het
Dhx34 C T 7: 16,199,826 R947H probably damaging Het
Dnah7b A T 1: 46,214,322 M1796L probably benign Het
Doxl2 A C 6: 48,978,131 N635T possibly damaging Het
Dstyk C T 1: 132,459,988 T820I probably damaging Het
Eif4g1 A G 16: 20,683,628 K942E probably damaging Het
Fbn1 C T 2: 125,358,823 G1318E probably damaging Het
Galnt5 T C 2: 57,999,132 V248A probably benign Het
Gcnt4 A G 13: 96,946,556 Y120C probably damaging Het
Gdf5 A G 2: 155,941,706 V442A probably damaging Het
Hnrnpm C A 17: 33,649,902 R517L probably damaging Het
Htt A G 5: 34,891,441 I2423V probably benign Het
Itk T A 11: 46,367,896 I60F probably damaging Het
Izumo1 T A 7: 45,622,871 C25* probably null Het
Lamc1 G T 1: 153,240,495 P980H probably damaging Het
Ncor2 C A 5: 125,086,890 R367L unknown Het
Pcdhb17 A T 18: 37,486,006 probably null Het
Rnf123 C A 9: 108,067,395 probably null Het
Sh3bgrl2 T A 9: 83,577,490 F34I probably damaging Het
Sharpin T C 15: 76,348,224 E171G probably damaging Het
Slc22a30 A T 19: 8,335,788 D544E probably benign Het
Slc36a1 T C 11: 55,226,128 C328R probably damaging Het
Sntg2 T C 12: 30,312,681 probably benign Het
Sox13 A G 1: 133,387,106 V272A probably benign Het
Sppl2b T G 10: 80,864,094 L37R probably damaging Het
Strip1 T A 3: 107,621,445 S390C probably damaging Het
Stxbp5 T A 10: 9,808,602 probably benign Het
Supt16 T C 14: 52,161,798 E1008G possibly damaging Het
Vmn1r174 C A 7: 23,754,486 H192Q possibly damaging Het
Vsir C T 10: 60,364,284 Q154* probably null Het
Xrn2 A T 2: 147,028,146 R252* probably null Het
Other mutations in H2-Q4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01341:H2-Q4 APN 17 35383002 missense probably damaging 1.00
IGL01538:H2-Q4 APN 17 35383312 missense probably benign 0.03
IGL03258:H2-Q4 APN 17 35380119 missense probably benign 0.29
FR4304:H2-Q4 UTSW 17 35380405 missense probably damaging 1.00
FR4340:H2-Q4 UTSW 17 35380405 missense probably damaging 1.00
FR4342:H2-Q4 UTSW 17 35380405 missense probably damaging 1.00
FR4589:H2-Q4 UTSW 17 35380405 missense probably damaging 1.00
LCD18:H2-Q4 UTSW 17 35380405 missense probably damaging 1.00
R1655:H2-Q4 UTSW 17 35382905 missense probably damaging 1.00
R1887:H2-Q4 UTSW 17 35380137 missense possibly damaging 0.94
R2013:H2-Q4 UTSW 17 35380550 missense probably damaging 1.00
R2073:H2-Q4 UTSW 17 35380402 missense possibly damaging 0.61
R2403:H2-Q4 UTSW 17 35379997 missense probably damaging 0.99
R3813:H2-Q4 UTSW 17 35383095 missense possibly damaging 0.79
R3928:H2-Q4 UTSW 17 35379690 missense unknown
R5076:H2-Q4 UTSW 17 35380441 missense probably damaging 1.00
R5096:H2-Q4 UTSW 17 35379713 splice site probably benign
R5252:H2-Q4 UTSW 17 35380435 missense probably benign 0.00
R5318:H2-Q4 UTSW 17 35383311 missense possibly damaging 0.48
R5618:H2-Q4 UTSW 17 35379925 missense probably damaging 1.00
R6648:H2-Q4 UTSW 17 35383005 missense probably damaging 1.00
R7351:H2-Q4 UTSW 17 35382878 missense possibly damaging 0.65
Posted On2013-04-17