Incidental Mutation 'IGL00832:Hnf4g'
ID11304
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hnf4g
Ensembl Gene ENSMUSG00000017688
Gene Namehepatocyte nuclear factor 4, gamma
SynonymsNR2A2
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.260) question?
Stock #IGL00832
Quality Score
Status
Chromosome3
Chromosomal Location3508030-3658052 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 3641276 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Tyrosine at position 77 (C77Y)
Ref Sequence ENSEMBL: ENSMUSP00000104030 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000108393] [ENSMUST00000108394]
Predicted Effect probably damaging
Transcript: ENSMUST00000108393
AA Change: C77Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000104030
Gene: ENSMUSG00000017688
AA Change: C77Y

DomainStartEndE-ValueType
ZnF_C4 9 80 6.51e-35 SMART
low complexity region 118 125 N/A INTRINSIC
HOLI 141 299 7.29e-47 SMART
low complexity region 334 345 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000108394
AA Change: C121Y

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000104031
Gene: ENSMUSG00000017688
AA Change: C121Y

DomainStartEndE-ValueType
ZnF_C4 63 134 6.51e-35 SMART
low complexity region 172 179 N/A INTRINSIC
HOLI 195 353 7.29e-47 SMART
low complexity region 388 399 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele are less inclined to build nests, spend more time in a passive state during the forced swim test, and display a reduction in energy expenditure and night time activity that results in increased body weight despite adecreased intake of food and water. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700030K09Rik A G 8: 72,455,349 Y407C probably damaging Het
Amtn T G 5: 88,385,049 H174Q possibly damaging Het
Cdon T A 9: 35,478,116 I839N probably damaging Het
Ces2g A G 8: 104,967,839 probably benign Het
Colq G T 14: 31,528,346 C367* probably null Het
Dopey2 T C 16: 93,763,401 V745A probably benign Het
E2f8 C T 7: 48,868,203 G657D probably damaging Het
Gpcpd1 G A 2: 132,546,850 T334M probably damaging Het
Gria2 T C 3: 80,707,251 D494G probably damaging Het
Gtf3c1 T C 7: 125,654,460 probably benign Het
Gtf3c2 G A 5: 31,173,005 probably benign Het
Ido1 G A 8: 24,584,559 T265I possibly damaging Het
Ifih1 A G 2: 62,645,470 probably benign Het
Itga6 A G 2: 71,838,262 probably null Het
Kctd10 C A 5: 114,368,936 probably null Het
Ltk A T 2: 119,755,605 probably benign Het
Luc7l3 T C 11: 94,303,942 D84G probably benign Het
Mb21d1 A T 9: 78,434,317 C393S probably damaging Het
Mc3r A T 2: 172,249,028 I57F possibly damaging Het
Mmp1b T A 9: 7,387,023 Q63L possibly damaging Het
Ncr1 C A 7: 4,341,288 T225N possibly damaging Het
Nf2 T C 11: 4,791,123 K364E probably benign Het
Ppl A T 16: 5,088,975 L1152H probably damaging Het
Primpol A G 8: 46,581,597 V432A probably damaging Het
Rbl2 A G 8: 91,085,445 D214G probably damaging Het
Rxfp2 A T 5: 150,066,428 M425L probably benign Het
Slc5a3 T C 16: 92,077,631 M192T probably damaging Het
Tbx18 T A 9: 87,705,661 S468C probably damaging Het
Tex10 T C 4: 48,468,864 T104A probably benign Het
Unc13b T G 4: 43,258,921 V4153G probably damaging Het
Vmn1r188 A G 13: 22,088,181 T102A probably damaging Het
Other mutations in Hnf4g
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00089:Hnf4g APN 3 3648082 missense probably benign
IGL01571:Hnf4g APN 3 3651266 splice site probably benign
IGL01896:Hnf4g APN 3 3651410 missense probably damaging 1.00
IGL02068:Hnf4g APN 3 3644576 missense probably benign
IGL03040:Hnf4g APN 3 3634211 utr 5 prime probably benign
IGL03097:Hnf4g UTSW 3 3651614 missense probably damaging 1.00
R0124:Hnf4g UTSW 3 3643082 splice site probably benign
R0477:Hnf4g UTSW 3 3651791 splice site probably benign
R0512:Hnf4g UTSW 3 3651622 missense probably damaging 1.00
R0744:Hnf4g UTSW 3 3651629 missense possibly damaging 0.92
R1323:Hnf4g UTSW 3 3634221 missense possibly damaging 0.73
R1323:Hnf4g UTSW 3 3634221 missense possibly damaging 0.73
R1656:Hnf4g UTSW 3 3652951 missense probably benign
R1982:Hnf4g UTSW 3 3638208 missense probably damaging 0.99
R2336:Hnf4g UTSW 3 3641224 missense probably benign 0.25
R3104:Hnf4g UTSW 3 3652856 missense probably benign 0.42
R3105:Hnf4g UTSW 3 3652856 missense probably benign 0.42
R3106:Hnf4g UTSW 3 3652856 missense probably benign 0.42
R3843:Hnf4g UTSW 3 3651302 missense probably benign 0.09
R4200:Hnf4g UTSW 3 3651284 missense possibly damaging 0.94
R4248:Hnf4g UTSW 3 3652849 missense possibly damaging 0.69
R4418:Hnf4g UTSW 3 3648094 missense possibly damaging 0.66
R4756:Hnf4g UTSW 3 3643009 missense possibly damaging 0.69
R4871:Hnf4g UTSW 3 3651388 missense possibly damaging 0.94
R5022:Hnf4g UTSW 3 3644587 missense probably damaging 0.99
R5023:Hnf4g UTSW 3 3644587 missense probably damaging 0.99
R5088:Hnf4g UTSW 3 3657121 missense probably benign 0.09
R5604:Hnf4g UTSW 3 3657126 nonsense probably null
R6746:Hnf4g UTSW 3 3657110 nonsense probably null
R7088:Hnf4g UTSW 3 3648125 splice site probably null
R7335:Hnf4g UTSW 3 3652864 missense possibly damaging 0.93
Posted On2012-12-06