Incidental Mutation 'IGL00950:H2-Q4'
ID 29304
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol H2-Q4
Ensembl Gene ENSMUSG00000035929
Gene Name histocompatibility 2, Q region locus 4
Synonyms Qat-4, Qa-4, Qa4, Qb-1, H2-Gs10, Qb1, H-2Q4
Accession Numbers
Essential gene? Probably non essential (E-score: 0.059) question?
Stock # IGL00950
Quality Score
Status
Chromosome 17
Chromosomal Location 35598593-35603650 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 35601834 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q8HWB2
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: 66,770,660 (GRCm39) V923A possibly damaging Het
Als2 G A 1: 59,254,541 (GRCm39) A272V probably benign Het
Aoc1l1 A C 6: 48,955,065 (GRCm39) N635T possibly damaging Het
Chrne C T 11: 70,509,983 (GRCm39) probably benign Het
Dhx34 C T 7: 15,933,751 (GRCm39) R947H probably damaging Het
Dnah7b A T 1: 46,253,482 (GRCm39) M1796L probably benign Het
Dstyk C T 1: 132,387,726 (GRCm39) T820I probably damaging Het
Eif4g1 A G 16: 20,502,378 (GRCm39) K942E probably damaging Het
Fbn1 C T 2: 125,200,743 (GRCm39) G1318E probably damaging Het
Galnt5 T C 2: 57,889,144 (GRCm39) V248A probably benign Het
Gcnt4 A G 13: 97,083,064 (GRCm39) Y120C probably damaging Het
Gdf5 A G 2: 155,783,626 (GRCm39) V442A probably damaging Het
Hnrnpm C A 17: 33,868,876 (GRCm39) R517L probably damaging Het
Htt A G 5: 35,048,785 (GRCm39) I2423V probably benign Het
Itk T A 11: 46,258,723 (GRCm39) I60F probably damaging Het
Izumo1 T A 7: 45,272,295 (GRCm39) C25* probably null Het
Katnip T A 7: 125,442,393 (GRCm39) D767E probably benign Het
Lamc1 G T 1: 153,116,241 (GRCm39) P980H probably damaging Het
Ncor2 C A 5: 125,163,954 (GRCm39) R367L unknown Het
Pcdhb17 A T 18: 37,619,059 (GRCm39) probably null Het
Rnf123 C A 9: 107,944,594 (GRCm39) probably null Het
Sh3bgrl2 T A 9: 83,459,543 (GRCm39) F34I probably damaging Het
Sharpin T C 15: 76,232,424 (GRCm39) E171G probably damaging Het
Slc22a30 A T 19: 8,313,152 (GRCm39) D544E probably benign Het
Slc36a1 T C 11: 55,116,954 (GRCm39) C328R probably damaging Het
Sntg2 T C 12: 30,362,680 (GRCm39) probably benign Het
Sox13 A G 1: 133,314,844 (GRCm39) V272A probably benign Het
Sppl2b T G 10: 80,699,928 (GRCm39) L37R probably damaging Het
Strip1 T A 3: 107,528,761 (GRCm39) S390C probably damaging Het
Stxbp5 T A 10: 9,684,346 (GRCm39) probably benign Het
Supt16 T C 14: 52,399,255 (GRCm39) E1008G possibly damaging Het
Vmn1r174 C A 7: 23,453,911 (GRCm39) H192Q possibly damaging Het
Vsir C T 10: 60,200,063 (GRCm39) Q154* probably null Het
Xrn2 A T 2: 146,870,066 (GRCm39) R252* probably null Het
Other mutations in H2-Q4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01341:H2-Q4 APN 17 35,601,978 (GRCm39) missense probably damaging 1.00
IGL01538:H2-Q4 APN 17 35,602,288 (GRCm39) missense probably benign 0.03
IGL03258:H2-Q4 APN 17 35,599,095 (GRCm39) missense probably benign 0.29
FR4304:H2-Q4 UTSW 17 35,599,381 (GRCm39) missense probably damaging 1.00
FR4340:H2-Q4 UTSW 17 35,599,381 (GRCm39) missense probably damaging 1.00
FR4342:H2-Q4 UTSW 17 35,599,381 (GRCm39) missense probably damaging 1.00
FR4589:H2-Q4 UTSW 17 35,599,381 (GRCm39) missense probably damaging 1.00
LCD18:H2-Q4 UTSW 17 35,599,381 (GRCm39) missense probably damaging 1.00
R1655:H2-Q4 UTSW 17 35,601,881 (GRCm39) missense probably damaging 1.00
R1887:H2-Q4 UTSW 17 35,599,113 (GRCm39) missense possibly damaging 0.94
R2013:H2-Q4 UTSW 17 35,599,526 (GRCm39) missense probably damaging 1.00
R2073:H2-Q4 UTSW 17 35,599,378 (GRCm39) missense possibly damaging 0.61
R2403:H2-Q4 UTSW 17 35,598,973 (GRCm39) missense probably damaging 0.99
R3813:H2-Q4 UTSW 17 35,602,071 (GRCm39) missense possibly damaging 0.79
R3928:H2-Q4 UTSW 17 35,598,666 (GRCm39) missense unknown
R5076:H2-Q4 UTSW 17 35,599,417 (GRCm39) missense probably damaging 1.00
R5096:H2-Q4 UTSW 17 35,598,689 (GRCm39) splice site probably benign
R5252:H2-Q4 UTSW 17 35,599,411 (GRCm39) missense probably benign 0.00
R5318:H2-Q4 UTSW 17 35,602,287 (GRCm39) missense possibly damaging 0.48
R5618:H2-Q4 UTSW 17 35,598,901 (GRCm39) missense probably damaging 1.00
R6648:H2-Q4 UTSW 17 35,601,981 (GRCm39) missense probably damaging 1.00
R7351:H2-Q4 UTSW 17 35,601,854 (GRCm39) missense possibly damaging 0.65
R7846:H2-Q4 UTSW 17 35,599,134 (GRCm39) missense probably damaging 0.99
R9047:H2-Q4 UTSW 17 35,598,969 (GRCm39) missense possibly damaging 0.86
R9258:H2-Q4 UTSW 17 35,599,105 (GRCm39) missense probably benign 0.03
R9352:H2-Q4 UTSW 17 35,601,909 (GRCm39) missense probably damaging 1.00
R9706:H2-Q4 UTSW 17 35,599,129 (GRCm39) missense probably damaging 1.00
Posted On 2013-04-17