Incidental Mutation 'IGL01148:H2-Q2'
ID53139
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: 0.067) question?
Stock #IGL01148
Quality Score
Status
Chromosome17
Chromosomal Location35342242-35346762 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 35342678 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Cysteine at position 48 (Y48C)
Ref Sequence ENSEMBL: ENSMUSP00000078138 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074806]
Predicted Effect probably damaging
Transcript: ENSMUST00000074806
AA Change: Y48C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000078138
Gene: ENSMUSG00000091705
AA Change: Y48C

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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931408C20Rik T C 1: 26,685,172 E309G probably benign Het
Acap1 A T 11: 69,890,903 C64* probably null Het
Ccng2 G A 5: 93,270,887 D124N probably damaging Het
Cttnbp2 G A 6: 18,382,818 P1317L probably damaging Het
Dsg1a T A 18: 20,320,925 V29E probably damaging Het
Exoc6b T C 6: 84,908,226 K244E probably benign Het
Fastkd5 A G 2: 130,614,685 F662L probably benign Het
Fbxl18 T C 5: 142,885,825 M488V probably damaging Het
Gas2l3 C T 10: 89,413,504 G584D probably benign Het
Gm28042 T C 2: 120,039,038 F405L possibly damaging Het
Gm5415 A G 1: 32,545,654 S392P possibly damaging Het
Gtf3c2 T C 5: 31,159,824 K635E probably damaging Het
Hddc2 T C 10: 31,316,334 I78T probably damaging Het
Hspg2 T A 4: 137,546,658 M2708K probably benign Het
Ift88 T C 14: 57,439,732 S119P probably benign Het
Mta2 T C 19: 8,948,304 C388R probably damaging Het
Mymx G T 17: 45,601,668 probably benign Het
Naga A G 15: 82,330,660 Y366H possibly damaging Het
Nlrp9a A G 7: 26,557,581 E208G probably damaging Het
Nr4a2 C T 2: 57,111,971 V94M probably benign Het
Olfr1232 G T 2: 89,326,024 T52K probably benign Het
Osbpl8 G T 10: 111,276,563 probably benign Het
Pitpnb T A 5: 111,338,356 V42D probably damaging Het
Pitrm1 A G 13: 6,573,105 R801G probably benign Het
Pthlh G A 6: 147,252,575 T174M probably benign Het
Sco2 T C 15: 89,371,721 I243M probably benign Het
Sema5a G A 15: 32,681,495 V907M probably benign Het
Stac2 T A 11: 98,043,561 K106* probably null Het
Tas2r105 T A 6: 131,686,852 R204S probably damaging Het
Tgm5 A G 2: 121,046,675 probably null Het
Trpm1 A G 7: 64,243,564 I939V probably damaging Het
Ttll11 T A 2: 35,784,193 N574I probably damaging Het
Zfand3 A T 17: 30,135,400 T64S probably benign Het
Zfyve26 G A 12: 79,260,870 H312Y probably benign Het
Other mutations in H2-Q2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00962:H2-Q2 APN 17 35342849 missense probably damaging 1.00
IGL02081:H2-Q2 APN 17 35342708 missense probably damaging 1.00
IGL03406:H2-Q2 APN 17 35342825 missense probably benign 0.01
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
Posted On2013-06-21