Incidental Mutation 'R3177:Nr1h4'
ID 476056
Institutional Source Beutler Lab
Gene Symbol Nr1h4
Ensembl Gene ENSMUSG00000047638
Gene Name nuclear receptor subfamily 1, group H, member 4
Synonyms Rxrip14, HRR1, RIP14, Fxr, FXR
MMRRC Submission 040615-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.758) question?
Stock # R3177 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 89290096-89369447 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 89314650 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 282 (T282I)
Ref Sequence ENSEMBL: ENSMUSP00000053092 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058126] [ENSMUST00000105296] [ENSMUST00000105297]
AlphaFold Q60641
Predicted Effect possibly damaging
Transcript: ENSMUST00000058126
AA Change: T282I

PolyPhen 2 Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000053092
Gene: ENSMUSG00000047638
AA Change: T282I

DomainStartEndE-ValueType
ZnF_C4 135 206 1.93e-37 SMART
Blast:HOLI 235 285 4e-19 BLAST
HOLI 301 456 9.43e-32 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000105296
AA Change: T286I

PolyPhen 2 Score 0.372 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000100933
Gene: ENSMUSG00000047638
AA Change: T286I

DomainStartEndE-ValueType
ZnF_C4 135 206 1.93e-37 SMART
Blast:HOLI 239 289 4e-19 BLAST
HOLI 305 460 9.43e-32 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000105297
AA Change: T272I

PolyPhen 2 Score 0.183 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000100934
Gene: ENSMUSG00000047638
AA Change: T272I

DomainStartEndE-ValueType
ZnF_C4 121 192 1.93e-37 SMART
Blast:HOLI 225 275 3e-19 BLAST
HOLI 291 446 9.43e-32 SMART
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.4%
Validation Efficiency 100% (21/21)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a ligand-activated transcription factor that shares structural features in common with nuclear hormone receptor family members. This protein functions as a receptor for bile acids, and when bound to bile acids, binds to DNA and regulates the expression of genes involved in bile acid synthesis and transport. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Feb 2016]
PHENOTYPE: Mice homozygous for knock-out alleles exhibit increased bile salts and abnormal liver morphology and physiology. Mice homozygous for one knock-out allele also exhibit abnormal lipid homeostasis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921509C19Rik T C 2: 151,314,020 (GRCm39) R553G possibly damaging Het
Adarb2 A G 13: 8,802,663 (GRCm39) N646S probably damaging Het
Adcy8 C T 15: 64,571,008 (GRCm39) G1242S probably benign Het
Ano9 T A 7: 140,684,037 (GRCm39) T543S probably damaging Het
Btnl10 A G 11: 58,813,216 (GRCm39) K282E probably benign Het
Btnl9 T C 11: 49,060,503 (GRCm39) D330G probably damaging Het
Ccdc178 G T 18: 22,200,709 (GRCm39) A416E possibly damaging Het
Cdx2 A T 5: 147,240,002 (GRCm39) S225T probably benign Het
Clca4b T C 3: 144,617,120 (GRCm39) I843M probably benign Het
Cntn4 G A 6: 106,414,925 (GRCm39) probably null Het
Cyb561 T C 11: 105,826,613 (GRCm39) probably benign Het
Cyp4f18 T C 8: 72,747,044 (GRCm39) D317G possibly damaging Het
Dennd4a G T 9: 64,796,275 (GRCm39) R767L probably damaging Het
Dgkb G A 12: 38,134,216 (GRCm39) V41M probably damaging Het
Duox1 T C 2: 122,170,597 (GRCm39) Y1206H probably damaging Het
Dync1i1 T C 6: 5,972,211 (GRCm39) probably null Het
Fbxw2 T C 2: 34,712,762 (GRCm39) T100A probably benign Het
Fcgbp C A 7: 27,791,086 (GRCm39) H782Q probably damaging Het
Flg2 A T 3: 93,122,195 (GRCm39) Q1455L unknown Het
Frrs1 T C 3: 116,692,873 (GRCm39) F49S probably damaging Het
Gli3 A T 13: 15,900,567 (GRCm39) Q1318L probably benign Het
Gm5581 C G 6: 131,143,928 (GRCm39) noncoding transcript Het
Gm5592 A G 7: 40,937,804 (GRCm39) E362G probably benign Het
Gm7104 A T 12: 88,252,498 (GRCm39) noncoding transcript Het
Gpatch2l A G 12: 86,291,089 (GRCm39) T91A possibly damaging Het
Hacd4 T C 4: 88,355,747 (GRCm39) H46R probably damaging Het
Hao2 T C 3: 98,787,644 (GRCm39) probably benign Het
Herc2 T C 7: 55,803,176 (GRCm39) V2175A probably benign Het
Hey1 T C 3: 8,729,951 (GRCm39) S169G probably benign Het
Hivep2 C A 10: 14,004,713 (GRCm39) T437K probably benign Het
Hlf T C 11: 90,236,661 (GRCm39) K199E probably damaging Het
Hpgd C A 8: 56,751,448 (GRCm39) A92E probably damaging Het
Hsp90aa1 T A 12: 110,662,114 (GRCm39) M1L possibly damaging Het
Hsp90aa1 C A 12: 110,662,115 (GRCm39) probably null Het
Itgad C A 7: 127,790,153 (GRCm39) H651N possibly damaging Het
Itgav A G 2: 83,606,886 (GRCm39) D409G probably damaging Het
Kif2a A G 13: 107,113,264 (GRCm39) I455T probably damaging Het
Klk14 G A 7: 43,341,501 (GRCm39) C51Y probably damaging Het
Lamc3 G T 2: 31,798,637 (GRCm39) G448C probably damaging Het
Ltbp1 G A 17: 75,583,475 (GRCm39) G425D possibly damaging Het
Ltbp1 T A 17: 75,666,273 (GRCm39) probably null Het
Mag C T 7: 30,601,073 (GRCm39) probably null Het
Mdh1b G A 1: 63,750,690 (GRCm39) T426M possibly damaging Het
Nsf C T 11: 103,821,578 (GRCm39) E26K possibly damaging Het
Or4c1 C T 2: 89,133,562 (GRCm39) V125M possibly damaging Het
Or52k2 T C 7: 102,253,783 (GRCm39) V74A possibly damaging Het
Or9s27 A G 1: 92,516,535 (GRCm39) N161S probably benign Het
Padi6 A G 4: 140,462,700 (GRCm39) L307P probably damaging Het
Parp9 T C 16: 35,768,578 (GRCm39) S20P probably damaging Het
Pdcd11 T C 19: 47,101,703 (GRCm39) F963L probably damaging Het
Pwp1 C T 10: 85,717,943 (GRCm39) L294F probably benign Het
Radil A G 5: 142,492,611 (GRCm39) L339P probably damaging Het
Raver1 G A 9: 20,990,573 (GRCm39) P316S possibly damaging Het
Rell1 A G 5: 64,084,330 (GRCm39) probably null Het
Rxrg A G 1: 167,463,269 (GRCm39) D257G possibly damaging Het
Sema4c C T 1: 36,588,960 (GRCm39) R722H possibly damaging Het
Sgk1 C T 10: 21,872,500 (GRCm39) R171W probably damaging Het
Spata7 A G 12: 98,603,857 (GRCm39) N75D possibly damaging Het
Ttc23l A G 15: 10,547,318 (GRCm39) F99L possibly damaging Het
Unc13a A C 8: 72,082,339 (GRCm39) C1642G probably benign Het
Usp36 C T 11: 118,167,585 (GRCm39) probably null Het
Wrn A G 8: 33,807,582 (GRCm39) M292T probably damaging Het
Zfp423 A G 8: 88,508,959 (GRCm39) Y462H probably damaging Het
Zscan5b T A 7: 6,234,345 (GRCm39) Y124N possibly damaging Het
Zswim9 T C 7: 13,011,196 (GRCm39) T51A possibly damaging Het
Other mutations in Nr1h4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01701:Nr1h4 APN 10 89,314,669 (GRCm39) missense probably benign 0.42
IGL02628:Nr1h4 APN 10 89,309,701 (GRCm39) missense probably damaging 1.00
Aeronaut UTSW 10 89,334,091 (GRCm39) nonsense probably null
I1329:Nr1h4 UTSW 10 89,319,224 (GRCm39) splice site probably benign
IGL02837:Nr1h4 UTSW 10 89,352,342 (GRCm39) missense probably benign 0.00
R0590:Nr1h4 UTSW 10 89,292,429 (GRCm39) missense probably damaging 0.99
R0645:Nr1h4 UTSW 10 89,342,390 (GRCm39) missense probably benign 0.08
R1887:Nr1h4 UTSW 10 89,290,729 (GRCm39) missense possibly damaging 0.64
R1905:Nr1h4 UTSW 10 89,316,421 (GRCm39) missense possibly damaging 0.85
R2471:Nr1h4 UTSW 10 89,309,756 (GRCm39) missense probably damaging 1.00
R2921:Nr1h4 UTSW 10 89,334,223 (GRCm39) missense probably damaging 1.00
R3277:Nr1h4 UTSW 10 89,314,650 (GRCm39) missense possibly damaging 0.89
R4656:Nr1h4 UTSW 10 89,334,115 (GRCm39) missense probably benign 0.00
R4676:Nr1h4 UTSW 10 89,309,736 (GRCm39) missense probably damaging 1.00
R4901:Nr1h4 UTSW 10 89,314,659 (GRCm39) missense possibly damaging 0.68
R4993:Nr1h4 UTSW 10 89,334,042 (GRCm39) missense probably benign 0.01
R5117:Nr1h4 UTSW 10 89,314,284 (GRCm39) missense probably damaging 1.00
R5131:Nr1h4 UTSW 10 89,319,317 (GRCm39) missense probably damaging 0.99
R5176:Nr1h4 UTSW 10 89,334,117 (GRCm39) missense probably benign 0.02
R5241:Nr1h4 UTSW 10 89,319,351 (GRCm39) missense probably damaging 1.00
R5580:Nr1h4 UTSW 10 89,352,302 (GRCm39) missense probably benign 0.16
R6114:Nr1h4 UTSW 10 89,314,678 (GRCm39) missense possibly damaging 0.61
R6814:Nr1h4 UTSW 10 89,290,607 (GRCm39) missense probably damaging 0.98
R6888:Nr1h4 UTSW 10 89,292,404 (GRCm39) missense probably damaging 1.00
R6990:Nr1h4 UTSW 10 89,290,792 (GRCm39) missense probably benign 0.18
R7141:Nr1h4 UTSW 10 89,334,091 (GRCm39) nonsense probably null
R7427:Nr1h4 UTSW 10 89,334,267 (GRCm39) missense probably benign 0.00
R7428:Nr1h4 UTSW 10 89,334,267 (GRCm39) missense probably benign 0.00
R7560:Nr1h4 UTSW 10 89,334,123 (GRCm39) missense probably benign
R7986:Nr1h4 UTSW 10 89,290,634 (GRCm39) missense possibly damaging 0.46
R8881:Nr1h4 UTSW 10 89,319,351 (GRCm39) missense probably damaging 1.00
R9365:Nr1h4 UTSW 10 89,319,315 (GRCm39) missense probably damaging 0.96
R9423:Nr1h4 UTSW 10 89,309,688 (GRCm39) missense possibly damaging 0.81
R9659:Nr1h4 UTSW 10 89,314,638 (GRCm39) critical splice donor site probably null
R9776:Nr1h4 UTSW 10 89,319,311 (GRCm39) missense probably damaging 1.00
R9788:Nr1h4 UTSW 10 89,314,638 (GRCm39) critical splice donor site probably null
R9792:Nr1h4 UTSW 10 89,314,651 (GRCm39) missense probably benign 0.02
R9795:Nr1h4 UTSW 10 89,314,651 (GRCm39) missense probably benign 0.02
R9800:Nr1h4 UTSW 10 89,290,618 (GRCm39) missense probably benign 0.03
X0023:Nr1h4 UTSW 10 89,290,706 (GRCm39) missense possibly damaging 0.45
Z1176:Nr1h4 UTSW 10 89,334,212 (GRCm39) nonsense probably null
Predicted Primers
Posted On 2017-05-11