Incidental Mutation 'IGL01701:Nr1h4'
ID104462
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nr1h4
Ensembl Gene ENSMUSG00000047638
Gene Namenuclear receptor subfamily 1, group H, member 4
SynonymsRxrip14, FXR, HRR1, Fxr, RIP14
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.420) question?
Stock #IGL01701
Quality Score
Status
Chromosome10
Chromosomal Location89454234-89533585 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 89478807 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Glycine at position 276 (R276G)
Ref Sequence ENSEMBL: ENSMUSP00000053092 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058126] [ENSMUST00000105296] [ENSMUST00000105297]
Predicted Effect probably benign
Transcript: ENSMUST00000058126
AA Change: R276G

PolyPhen 2 Score 0.419 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000053092
Gene: ENSMUSG00000047638
AA Change: R276G

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: R280G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000100933
Gene: ENSMUSG00000047638
AA Change: R280G

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: R266G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000100934
Gene: ENSMUSG00000047638
AA Change: R266G

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
Validation Efficiency
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110008L16Rik T G 12: 55,308,875 probably benign Het
2410089E03Rik T C 15: 8,203,257 probably benign Het
4930568D16Rik A G 2: 35,364,764 Y36H possibly damaging Het
Adgrv1 T C 13: 81,419,631 D5141G possibly damaging Het
Adk G A 14: 21,103,854 E42K probably damaging Het
Akap1 C A 11: 88,845,132 V268L probably benign Het
Arl6ip5 A G 6: 97,210,813 probably benign Het
Atrx A G X: 105,830,920 S1945P probably damaging Het
Clec5a G A 6: 40,582,226 probably benign Het
Cul3 G T 1: 80,277,423 H6Q probably damaging Het
D11Wsu47e T C 11: 113,689,101 F441L probably benign Het
E330021D16Rik T A 6: 136,400,806 Y342F probably damaging Het
Fn1 T C 1: 71,629,853 probably benign Het
Furin C A 7: 80,392,492 V452F probably benign Het
Furin T A 7: 80,390,759 D777V probably benign Het
Hmgb4 G A 4: 128,260,373 T134I probably benign Het
Ift74 A T 4: 94,662,658 E349V possibly damaging Het
Igkv6-23 A T 6: 70,260,896 L13Q probably damaging Het
Lekr1 A T 3: 65,684,004 Y54F probably damaging Het
Lman1 A T 18: 65,994,850 V241E possibly damaging Het
Mat1a T A 14: 41,114,815 D167E probably benign Het
Myl6 G A 10: 128,492,097 A130V probably damaging Het
Myo9a T C 9: 59,884,594 probably null Het
Nlrp4f A T 13: 65,199,409 W12R probably damaging Het
Olfr1026 C A 2: 85,924,077 Q270K possibly damaging Het
Olfr1314 T C 2: 112,092,506 N65S possibly damaging Het
Pag1 C T 3: 9,693,826 E411K probably damaging Het
Rttn A G 18: 89,064,215 N1422D probably damaging Het
Ryr1 C T 7: 29,059,810 R3345Q probably damaging Het
Slc12a8 T C 16: 33,540,910 L85P probably damaging Het
Slc22a17 T C 14: 54,907,261 H565R probably damaging Het
Slc46a3 T C 5: 147,886,298 T245A probably benign Het
Thsd7b A G 1: 129,430,928 H33R probably benign Het
Tmem131 A G 1: 36,808,237 V1260A probably benign Het
Tmem30a A T 9: 79,774,179 F236Y probably damaging Het
Trim30b A C 7: 104,366,051 Y43* probably null Het
Trpc3 T C 3: 36,671,594 K78E possibly damaging Het
Twist2 A T 1: 91,802,014 M130L probably benign Het
Other mutations in Nr1h4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02628:Nr1h4 APN 10 89473839 missense probably damaging 1.00
I1329:Nr1h4 UTSW 10 89483362 splice site probably benign
IGL02837:Nr1h4 UTSW 10 89516480 missense probably benign 0.00
R0590:Nr1h4 UTSW 10 89456567 missense probably damaging 0.99
R0645:Nr1h4 UTSW 10 89506528 missense probably benign 0.08
R1887:Nr1h4 UTSW 10 89454867 missense possibly damaging 0.64
R1905:Nr1h4 UTSW 10 89480559 missense possibly damaging 0.85
R2471:Nr1h4 UTSW 10 89473894 missense probably damaging 1.00
R2921:Nr1h4 UTSW 10 89498361 missense probably damaging 1.00
R3177:Nr1h4 UTSW 10 89478788 missense possibly damaging 0.89
R3277:Nr1h4 UTSW 10 89478788 missense possibly damaging 0.89
R4656:Nr1h4 UTSW 10 89498253 missense probably benign 0.00
R4676:Nr1h4 UTSW 10 89473874 missense probably damaging 1.00
R4901:Nr1h4 UTSW 10 89478797 missense possibly damaging 0.68
R4993:Nr1h4 UTSW 10 89498180 missense probably benign 0.01
R5117:Nr1h4 UTSW 10 89478422 missense probably damaging 1.00
R5131:Nr1h4 UTSW 10 89483455 missense probably damaging 0.99
R5176:Nr1h4 UTSW 10 89498255 missense probably benign 0.02
R5241:Nr1h4 UTSW 10 89483489 missense probably damaging 1.00
R5580:Nr1h4 UTSW 10 89516440 missense probably benign 0.16
R6114:Nr1h4 UTSW 10 89478816 missense possibly damaging 0.61
R6814:Nr1h4 UTSW 10 89454745 missense probably damaging 0.98
R6888:Nr1h4 UTSW 10 89456542 missense probably damaging 1.00
R6990:Nr1h4 UTSW 10 89454930 missense probably benign 0.18
X0023:Nr1h4 UTSW 10 89454844 missense possibly damaging 0.45
Posted On2014-01-21