Incidental Mutation 'R4756:Hnf4g'
ID 357988
Institutional Source Beutler Lab
Gene Symbol Hnf4g
Ensembl Gene ENSMUSG00000017688
Gene Name hepatocyte nuclear factor 4, gamma
Synonyms NR2A2
MMRRC Submission 041972-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.200) question?
Stock # R4756 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 3573090-3724863 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 3708069 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 106 (Y106C)
Ref Sequence ENSEMBL: ENSMUSP00000104030 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000108393] [ENSMUST00000108394]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000108393
AA Change: Y106C

PolyPhen 2 Score 0.693 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000104030
Gene: ENSMUSG00000017688
AA Change: Y106C

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 benign
Transcript: ENSMUST00000108394
AA Change: Y150C

PolyPhen 2 Score 0.186 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000104031
Gene: ENSMUSG00000017688
AA Change: Y150C

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
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.9%
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930550C14Rik A T 9: 53,336,830 (GRCm39) M45L probably benign Het
Acss2 T C 2: 155,403,063 (GRCm39) F627L probably damaging Het
Akap8 A G 17: 32,535,184 (GRCm39) S277P probably damaging Het
Akap9 T A 5: 4,051,418 (GRCm39) M1395K probably damaging Het
Ank1 A G 8: 23,612,893 (GRCm39) D1468G probably benign Het
Apoe A G 7: 19,430,846 (GRCm39) V121A probably benign Het
Aqp9 A T 9: 71,070,331 (GRCm39) L12H probably damaging Het
Atp2b4 G A 1: 133,639,529 (GRCm39) A1115V probably benign Het
Atp2b4 G A 1: 133,667,134 (GRCm39) P139L probably benign Het
B430218F22Rik T C 13: 118,523,980 (GRCm39) probably benign Het
Bltp2 T A 11: 78,154,854 (GRCm39) L122H probably damaging Het
Brsk1 A G 7: 4,711,866 (GRCm39) E572G possibly damaging Het
C6 T C 15: 4,811,394 (GRCm39) I414T probably benign Het
C8b T A 4: 104,644,083 (GRCm39) M250K probably benign Het
Camk1g T A 1: 193,044,393 (GRCm39) E7V probably benign Het
Clcc1 A G 3: 108,580,236 (GRCm39) probably null Het
Col4a3 G T 1: 82,694,018 (GRCm39) probably null Het
Cox5b T A 1: 36,732,310 (GRCm39) W104R probably damaging Het
Cyp2c55 A C 19: 39,019,815 (GRCm39) H251P probably damaging Het
Cyp2c67 G A 19: 39,632,188 (GRCm39) T60I probably benign Het
Defb42 T A 14: 63,285,824 (GRCm39) V68E probably benign Het
Ercc4 T A 16: 12,941,287 (GRCm39) I225N probably damaging Het
Fam120b G T 17: 15,622,658 (GRCm39) C212F probably damaging Het
Fgf10 T C 13: 118,918,045 (GRCm39) V111A probably benign Het
Fn1 G T 1: 71,629,967 (GRCm39) T2186K probably damaging Het
Fras1 T C 5: 96,929,518 (GRCm39) V3974A probably benign Het
Galnt4 T C 10: 98,944,362 (GRCm39) V29A probably benign Het
Gpr26 T C 7: 131,569,230 (GRCm39) Y192H probably damaging Het
Heatr9 A T 11: 83,407,475 (GRCm39) L236Q probably damaging Het
Hivep3 C A 4: 119,955,020 (GRCm39) P1112H probably damaging Het
Hnrnpdl A T 5: 100,185,783 (GRCm39) Y69* probably null Het
Itgb1 G A 8: 129,443,703 (GRCm39) A320T probably damaging Het
Kcna2 T C 3: 107,012,733 (GRCm39) I438T probably benign Het
Kif24 A G 4: 41,397,545 (GRCm39) probably null Het
Klhl1 G A 14: 96,389,402 (GRCm39) T584I probably benign Het
Ltbp1 A G 17: 75,532,199 (GRCm39) D91G probably damaging Het
Mdga2 T C 12: 66,844,427 (GRCm39) I190M probably damaging Het
Meis2 G A 2: 115,830,686 (GRCm39) R276C probably damaging Het
Mob4 C T 1: 55,191,855 (GRCm39) R190W probably damaging Het
Mrgpra2a A G 7: 47,077,114 (GRCm39) I48T possibly damaging Het
Mst1 T C 9: 107,960,826 (GRCm39) V481A probably benign Het
Mttp A T 3: 137,821,832 (GRCm39) V245E possibly damaging Het
Nbn T A 4: 15,981,470 (GRCm39) S521T probably benign Het
Neb G T 2: 52,083,243 (GRCm39) T5654N probably damaging Het
Nlrp9a A T 7: 26,256,866 (GRCm39) K161N probably damaging Het
Nod2 T G 8: 89,390,902 (GRCm39) F388C possibly damaging Het
Or3a1 G T 11: 74,225,402 (GRCm39) F218L probably benign Het
Or4a75 G T 2: 89,447,814 (GRCm39) H241N possibly damaging Het
Or4f58 A G 2: 111,851,332 (GRCm39) F289S possibly damaging Het
Or52e2 A T 7: 102,804,332 (GRCm39) N207K probably benign Het
Or7a38 T A 10: 78,753,361 (GRCm39) I229N probably damaging Het
Or7g25 G A 9: 19,160,153 (GRCm39) L181F possibly damaging Het
P2ry1 A G 3: 60,911,898 (GRCm39) S346G probably benign Het
Polr1f T A 12: 33,487,679 (GRCm39) probably null Het
Prkcd A G 14: 30,321,623 (GRCm39) F524L probably benign Het
Qrfprl T C 6: 65,429,898 (GRCm39) I198T probably benign Het
Ramp3 A T 11: 6,624,843 (GRCm39) M46L probably benign Het
Rint1 T C 5: 24,014,791 (GRCm39) Y278H probably damaging Het
Skint11 C T 4: 114,051,874 (GRCm39) T74I probably benign Het
Slc10a7 T C 8: 79,433,579 (GRCm39) probably null Het
Slc45a2 T A 15: 11,028,016 (GRCm39) Y528* probably null Het
Slit1 A G 19: 41,637,452 (GRCm39) F329L probably damaging Het
Sltm A T 9: 70,498,892 (GRCm39) M989L possibly damaging Het
Smad9 A T 3: 54,701,874 (GRCm39) T372S possibly damaging Het
Snrpc T A 17: 28,061,306 (GRCm39) Y38* probably null Het
Spag17 A G 3: 100,010,701 (GRCm39) K2065R possibly damaging Het
Stxbp4 T A 11: 90,498,197 (GRCm39) K87N probably damaging Het
Tbc1d23 AT ATT 16: 57,019,258 (GRCm39) probably null Het
Tgfb1i1 A T 7: 127,848,571 (GRCm39) M96L probably damaging Het
Tnc T A 4: 63,885,580 (GRCm39) I1841F probably damaging Het
Ubap2 G T 4: 41,211,771 (GRCm39) H63Q probably damaging Het
Vps13a T C 19: 16,632,580 (GRCm39) N2592S probably benign Het
Xdh G A 17: 74,193,381 (GRCm39) P1305L probably benign Het
Xrn1 G A 9: 95,921,862 (GRCm39) R1425K probably benign Het
Zfp418 G A 7: 7,185,762 (GRCm39) R575Q possibly damaging Het
Zfp608 T A 18: 55,027,544 (GRCm39) Q1424H probably damaging Het
Zfp839 C A 12: 110,821,635 (GRCm39) L150I possibly damaging Het
Other mutations in Hnf4g
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00089:Hnf4g APN 3 3,713,142 (GRCm39) missense probably benign
IGL00832:Hnf4g APN 3 3,706,336 (GRCm39) missense probably damaging 1.00
IGL01571:Hnf4g APN 3 3,716,326 (GRCm39) splice site probably benign
IGL01896:Hnf4g APN 3 3,716,470 (GRCm39) missense probably damaging 1.00
IGL02068:Hnf4g APN 3 3,709,636 (GRCm39) missense probably benign
IGL03040:Hnf4g APN 3 3,699,271 (GRCm39) utr 5 prime probably benign
IGL03097:Hnf4g UTSW 3 3,716,674 (GRCm39) missense probably damaging 1.00
R0124:Hnf4g UTSW 3 3,708,142 (GRCm39) splice site probably benign
R0477:Hnf4g UTSW 3 3,716,851 (GRCm39) splice site probably benign
R0512:Hnf4g UTSW 3 3,716,682 (GRCm39) missense probably damaging 1.00
R0744:Hnf4g UTSW 3 3,716,689 (GRCm39) missense possibly damaging 0.92
R1323:Hnf4g UTSW 3 3,699,281 (GRCm39) missense possibly damaging 0.73
R1323:Hnf4g UTSW 3 3,699,281 (GRCm39) missense possibly damaging 0.73
R1656:Hnf4g UTSW 3 3,718,011 (GRCm39) missense probably benign
R1982:Hnf4g UTSW 3 3,703,268 (GRCm39) missense probably damaging 0.99
R2336:Hnf4g UTSW 3 3,706,284 (GRCm39) missense probably benign 0.25
R3104:Hnf4g UTSW 3 3,717,916 (GRCm39) missense probably benign 0.42
R3105:Hnf4g UTSW 3 3,717,916 (GRCm39) missense probably benign 0.42
R3106:Hnf4g UTSW 3 3,717,916 (GRCm39) missense probably benign 0.42
R3843:Hnf4g UTSW 3 3,716,362 (GRCm39) missense probably benign 0.09
R4200:Hnf4g UTSW 3 3,716,344 (GRCm39) missense possibly damaging 0.94
R4248:Hnf4g UTSW 3 3,717,909 (GRCm39) missense possibly damaging 0.69
R4418:Hnf4g UTSW 3 3,713,154 (GRCm39) missense possibly damaging 0.66
R4871:Hnf4g UTSW 3 3,716,448 (GRCm39) missense possibly damaging 0.94
R5022:Hnf4g UTSW 3 3,709,647 (GRCm39) missense probably damaging 0.99
R5023:Hnf4g UTSW 3 3,709,647 (GRCm39) missense probably damaging 0.99
R5088:Hnf4g UTSW 3 3,722,181 (GRCm39) missense probably benign 0.09
R5604:Hnf4g UTSW 3 3,722,186 (GRCm39) nonsense probably null
R6746:Hnf4g UTSW 3 3,722,170 (GRCm39) nonsense probably null
R7088:Hnf4g UTSW 3 3,713,185 (GRCm39) splice site probably null
R7335:Hnf4g UTSW 3 3,717,924 (GRCm39) missense possibly damaging 0.93
R8153:Hnf4g UTSW 3 3,699,250 (GRCm39) start gained probably benign
R8182:Hnf4g UTSW 3 3,716,679 (GRCm39) missense possibly damaging 0.82
R8676:Hnf4g UTSW 3 3,708,133 (GRCm39) splice site probably benign
R9008:Hnf4g UTSW 3 3,708,096 (GRCm39) missense probably benign
R9153:Hnf4g UTSW 3 3,573,378 (GRCm39) start gained probably benign
R9671:Hnf4g UTSW 3 3,703,273 (GRCm39) missense probably benign 0.00
R9802:Hnf4g UTSW 3 3,699,404 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- CTCTGGAAACAAGCTTAGCTATTCC -3'
(R):5'- CAAAATGTTCCTTTTGAGCCTGTC -3'

Sequencing Primer
(F):5'- TGGATTTCAAAGTGGTTCAAGAG -3'
(R):5'- CTCTATTGACTTTAGCAGTGAGC -3'
Posted On 2015-11-11