Incidental Mutation 'IGL03258:H2-Q4'
ID 414723
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 # IGL03258
Quality Score
Status
Chromosome 17
Chromosomal Location 35598593-35603650 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 35599095 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 122 (I122V)
Ref Sequence ENSEMBL: ENSMUSP00000080159 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081435]
AlphaFold Q8HWB2
Predicted Effect probably benign
Transcript: ENSMUST00000081435
AA Change: I122V

PolyPhen 2 Score 0.286 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000080159
Gene: ENSMUSG00000035929
AA Change: I122V

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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 T A 3: 121,931,210 (GRCm39) probably benign Het
Adam1b A G 5: 121,639,447 (GRCm39) S533P possibly damaging Het
Akr1c6 G T 13: 4,486,408 (GRCm39) G72C probably damaging Het
Carf C T 1: 60,148,388 (GRCm39) T28I possibly damaging Het
Cog1 G A 11: 113,545,919 (GRCm39) W398* probably null Het
Dmpk A G 7: 18,826,131 (GRCm39) probably null Het
Dmxl1 T C 18: 50,053,960 (GRCm39) V2534A probably damaging Het
Fam78b A T 1: 166,906,323 (GRCm39) T161S probably damaging Het
Fgd6 A T 10: 93,969,215 (GRCm39) T1161S probably benign Het
Gpr158 A T 2: 21,830,085 (GRCm39) D710V probably damaging Het
Ifi211 A T 1: 173,733,098 (GRCm39) C188S probably benign Het
Lamc3 A C 2: 31,777,695 (GRCm39) S114R probably damaging Het
Lrrc57 C T 2: 120,435,703 (GRCm39) A239T probably damaging Het
Mdga1 A G 17: 30,058,887 (GRCm39) Y707H probably damaging Het
Ms4a6b T G 19: 11,499,072 (GRCm39) L62R probably damaging Het
Mtmr4 A T 11: 87,502,829 (GRCm39) H961L possibly damaging Het
Myrip A G 9: 120,270,418 (GRCm39) N556S probably benign Het
Osgep T C 14: 51,155,346 (GRCm39) T71A possibly damaging Het
Plin4 T C 17: 56,411,371 (GRCm39) T887A probably benign Het
Pwwp2a T A 11: 43,595,392 (GRCm39) F186I probably benign Het
Serpina1b G T 12: 103,696,655 (GRCm39) S251R probably benign Het
Setd7 T C 3: 51,467,936 (GRCm39) probably null Het
Slc24a5 G T 2: 124,922,625 (GRCm39) probably null Het
Slc25a17 A G 15: 81,213,243 (GRCm39) probably benign Het
Slc5a4a T C 10: 75,986,386 (GRCm39) V98A possibly damaging Het
Susd1 A T 4: 59,379,655 (GRCm39) I324N possibly damaging Het
Tcaf3 A G 6: 42,566,773 (GRCm39) L772P probably damaging Het
Other mutations in H2-Q4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00950:H2-Q4 APN 17 35,601,834 (GRCm39) missense probably damaging 1.00
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
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 2016-08-02