Incidental Mutation 'IGL03406:H2-Q2'
ID421603
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol H2-Q2
Ensembl Gene ENSMUSG00000091705
Gene Namehistocompatibility 2, Q region locus 2
SynonymsH-2Q2, Gm11132
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.071) question?
Stock #IGL03406
Quality Score
Status
Chromosome17
Chromosomal Location35342242-35346762 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 35342825 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 97 (V97A)
Ref Sequence ENSEMBL: ENSMUSP00000078138 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074806]
Predicted Effect probably benign
Transcript: ENSMUST00000074806
AA Change: V97A

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000078138
Gene: ENSMUSG00000091705
AA Change: V97A

DomainStartEndE-ValueType
low complexity region 2 16 N/A INTRINSIC
Pfam:MHC_I 22 200 2.4e-90 PFAM
IGc1 219 290 4.05e-22 SMART
low complexity region 306 325 N/A INTRINSIC
Pfam:MHC_I_C 334 358 1.6e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000173115
SMART Domains Protein: ENSMUSP00000133989
Gene: ENSMUSG00000091705

DomainStartEndE-ValueType
SCOP:d1hdma1 2 19 5e-6 SMART
low complexity region 22 41 N/A INTRINSIC
Pfam:MHC_I_C 50 74 1.5e-10 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700012P22Rik A G 4: 144,423,844 Y56H probably damaging Het
A530016L24Rik T A 12: 112,496,883 probably null Het
Adcy7 C T 8: 88,318,319 R228* probably null Het
Cdcp1 T C 9: 123,185,313 H132R probably benign Het
Cyp4a32 T C 4: 115,602,303 I78T probably benign Het
Fap A T 2: 62,542,122 probably benign Het
Gad1-ps C T 10: 99,444,779 noncoding transcript Het
Gli3 T C 13: 15,648,581 I296T probably damaging Het
Hr T A 14: 70,563,420 probably null Het
Itgax C T 7: 128,149,198 T1133I possibly damaging Het
L3mbtl2 G A 15: 81,681,993 R339H probably damaging Het
Mast4 T C 13: 102,737,107 K1726E possibly damaging Het
Nlrc5 T C 8: 94,476,855 Y528H probably benign Het
Nmnat3 G A 9: 98,399,477 G44D probably damaging Het
Nol8 A T 13: 49,661,568 D366V probably damaging Het
Olfr539 C A 7: 140,667,511 L68M probably damaging Het
Pde4d A T 13: 109,954,591 probably benign Het
Ptpn22 C A 3: 103,912,016 N795K probably benign Het
Rabgap1l A T 1: 160,722,169 V289D probably damaging Het
Slc50a1 T C 3: 89,270,101 D40G possibly damaging Het
Slco6b1 T C 1: 96,947,585 noncoding transcript Het
Smarcad1 T A 6: 65,092,526 F530Y probably damaging Het
Spag6 A G 2: 18,742,873 probably benign Het
Supt16 A T 14: 52,178,141 I379N possibly damaging Het
Tmem154 A G 3: 84,684,260 N39S probably benign Het
Ubash3b T A 9: 41,037,479 Y180F probably damaging Het
Usp48 T A 4: 137,639,295 D921E possibly damaging Het
Zdhhc20 T C 14: 57,839,099 T366A probably benign Het
Zfp456 A T 13: 67,366,331 C419S probably damaging Het
Zfp69 T C 4: 120,931,084 T345A probably benign Het
Other mutations in H2-Q2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00962:H2-Q2 APN 17 35342849 missense probably damaging 1.00
IGL01148:H2-Q2 APN 17 35342678 missense probably damaging 1.00
IGL02081:H2-Q2 APN 17 35342708 missense probably damaging 1.00
R0145:H2-Q2 UTSW 17 35345176 missense probably benign 0.24
R0646:H2-Q2 UTSW 17 35345685 missense probably damaging 1.00
R1889:H2-Q2 UTSW 17 35345176 missense probably benign 0.24
R2055:H2-Q2 UTSW 17 35345271 missense probably benign 0.00
R2152:H2-Q2 UTSW 17 35345276 critical splice donor site probably null
R3898:H2-Q2 UTSW 17 35342767 missense probably damaging 1.00
R4710:H2-Q2 UTSW 17 35343302 missense probably damaging 1.00
R5267:H2-Q2 UTSW 17 35343179 missense probably benign 0.21
R5302:H2-Q2 UTSW 17 35344909 missense probably damaging 1.00
R6134:H2-Q2 UTSW 17 35343241 missense probably damaging 0.98
R6453:H2-Q2 UTSW 17 35344895 missense probably benign 0.07
R6633:H2-Q2 UTSW 17 35342387 missense probably damaging 0.98
R6979:H2-Q2 UTSW 17 35345647 splice site probably null
R8248:H2-Q2 UTSW 17 35344865 missense probably benign
R8306:H2-Q2 UTSW 17 35342325 unclassified probably benign
R8714:H2-Q2 UTSW 17 35343362 missense possibly damaging 0.92
Z1176:H2-Q2 UTSW 17 35345675 missense probably damaging 1.00
Z1177:H2-Q2 UTSW 17 35342342 missense unknown
Posted On2016-08-02