Incidental Mutation 'IGL02628:Nr1h4'
ID 301176
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nr1h4
Ensembl Gene ENSMUSG00000047638
Gene Name nuclear receptor subfamily 1, group H, member 4
Synonyms Rxrip14, FXR, HRR1, Fxr, RIP14
Accession Numbers
Essential gene? Probably essential (E-score: 0.839) question?
Stock # IGL02628
Quality Score
Status
Chromosome 10
Chromosomal Location 89454234-89533585 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to T at 89473839 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 339 (A339T)
Ref Sequence ENSEMBL: ENSMUSP00000053092 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058126] [ENSMUST00000105296] [ENSMUST00000105297]
AlphaFold Q60641
Predicted Effect probably damaging
Transcript: ENSMUST00000058126
AA Change: A339T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000053092
Gene: ENSMUSG00000047638
AA Change: A339T

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 damaging
Transcript: ENSMUST00000105296
AA Change: A343T

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000100933
Gene: ENSMUSG00000047638
AA Change: A343T

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 possibly damaging
Transcript: ENSMUST00000105297
AA Change: A329T

PolyPhen 2 Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000100934
Gene: ENSMUSG00000047638
AA Change: A329T

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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actr10 T A 12: 70,954,656 probably null Het
Ankhd1 T C 18: 36,647,703 V1936A probably benign Het
Ap3m1 C A 14: 21,045,520 E81* probably null Het
Camkk1 T C 11: 73,029,169 probably benign Het
Cbwd1 T A 19: 24,957,905 E78D probably damaging Het
Cdc45 C T 16: 18,798,729 M200I probably benign Het
Cmc1 A G 9: 118,065,308 Y33H probably damaging Het
Cntnap5b A T 1: 100,072,069 D184V probably damaging Het
F5 A T 1: 164,194,075 D1373V probably damaging Het
Fam169a T C 13: 97,111,288 probably benign Het
Fem1c G A 18: 46,505,952 R328W probably damaging Het
Gba2 T C 4: 43,568,919 R579G probably benign Het
Gm42641 G A 9: 109,058,630 Q98* probably null Het
Hsd17b7 A G 1: 169,964,489 F117L possibly damaging Het
Itsn1 A G 16: 91,899,623 D38G possibly damaging Het
Map1a T C 2: 121,300,104 I467T probably damaging Het
Map2k4 T A 11: 65,690,741 I382F possibly damaging Het
Myh1 T G 11: 67,206,262 probably benign Het
Olfr190 A C 16: 59,074,792 M96R probably benign Het
Olfr429 A G 1: 174,089,190 Y50C probably benign Het
Opn4 T A 14: 34,593,057 T420S probably benign Het
Rnf123 G A 9: 108,068,302 R390* probably null Het
Slc17a3 T A 13: 23,842,451 M1K probably null Het
T T A 17: 8,435,358 I125N probably damaging Het
Tns2 T A 15: 102,111,828 S710T probably benign Het
Trav3-1 T A 14: 52,581,094 V75E probably benign Het
U2surp A G 9: 95,472,090 Y832H possibly damaging Het
Other mutations in Nr1h4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01701:Nr1h4 APN 10 89478807 missense probably benign 0.42
Aeronaut UTSW 10 89498229 nonsense probably null
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
R7141:Nr1h4 UTSW 10 89498229 nonsense probably null
R7427:Nr1h4 UTSW 10 89498405 missense probably benign 0.00
R7428:Nr1h4 UTSW 10 89498405 missense probably benign 0.00
R7560:Nr1h4 UTSW 10 89498261 missense probably benign
R7986:Nr1h4 UTSW 10 89454772 missense possibly damaging 0.46
R8881:Nr1h4 UTSW 10 89483489 missense probably damaging 1.00
R9365:Nr1h4 UTSW 10 89483453 missense probably damaging 0.96
R9423:Nr1h4 UTSW 10 89473826 missense possibly damaging 0.81
R9659:Nr1h4 UTSW 10 89478776 critical splice donor site probably null
R9776:Nr1h4 UTSW 10 89483449 missense probably damaging 1.00
R9788:Nr1h4 UTSW 10 89478776 critical splice donor site probably null
R9792:Nr1h4 UTSW 10 89478789 missense probably benign 0.02
R9795:Nr1h4 UTSW 10 89478789 missense probably benign 0.02
R9800:Nr1h4 UTSW 10 89454756 missense probably benign 0.03
X0023:Nr1h4 UTSW 10 89454844 missense possibly damaging 0.45
Z1176:Nr1h4 UTSW 10 89498350 nonsense probably null
Posted On 2015-04-16