Incidental Mutation 'R0645:Nr1h4'
ID 57082
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 038830-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.758) question?
Stock # R0645 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 89290096-89369447 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 89342390 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 30 (M30K)
Ref Sequence ENSEMBL: ENSMUSP00000100933 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058126] [ENSMUST00000105296] [ENSMUST00000105297]
AlphaFold Q60641
Predicted Effect probably benign
Transcript: ENSMUST00000058126
AA Change: M30K

PolyPhen 2 Score 0.081 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000053092
Gene: ENSMUSG00000047638
AA Change: M30K

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: M30K

PolyPhen 2 Score 0.081 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000100933
Gene: ENSMUSG00000047638
AA Change: M30K

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
SMART Domains Protein: ENSMUSP00000100934
Gene: ENSMUSG00000047638

DomainStartEndE-ValueType
ZnF_C4 121 192 1.93e-37 SMART
Blast:HOLI 225 275 3e-19 BLAST
HOLI 291 446 9.43e-32 SMART
Meta Mutation Damage Score 0.1718 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency 99% (94/95)
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: 92 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam18 G T 8: 25,162,136 (GRCm39) Y46* probably null Het
Adam26b A C 8: 43,973,524 (GRCm39) C493G probably damaging Het
Ak5 A T 3: 152,359,252 (GRCm39) L182Q probably damaging Het
Akt1s1 T C 7: 44,498,645 (GRCm39) probably benign Het
Amhr2 G T 15: 102,354,863 (GRCm39) G133C probably damaging Het
Btbd9 A T 17: 30,743,941 (GRCm39) L187Q probably damaging Het
Ccdc117 A T 11: 5,484,385 (GRCm39) probably benign Het
Ccdc138 A T 10: 58,411,542 (GRCm39) I637F probably damaging Het
Ccdc162 A G 10: 41,462,407 (GRCm39) probably benign Het
Cdc25b C A 2: 131,033,533 (GRCm39) H157Q probably benign Het
Cdon A G 9: 35,388,379 (GRCm39) probably null Het
Cdt1 G A 8: 123,298,884 (GRCm39) probably benign Het
Cep350 C T 1: 155,816,458 (GRCm39) probably null Het
Cfb T C 17: 35,078,992 (GRCm39) K831R probably benign Het
Cldn4 C A 5: 134,975,645 (GRCm39) probably benign Het
Cntnap5b T C 1: 99,999,767 (GRCm39) probably benign Het
Cyp27b1 T G 10: 126,884,967 (GRCm39) S77A probably benign Het
Dlc1 T C 8: 37,041,203 (GRCm39) D1342G possibly damaging Het
Dlgap4 A G 2: 156,603,799 (GRCm39) H887R probably damaging Het
Duox2 A G 2: 122,123,139 (GRCm39) I503T probably damaging Het
Eml4 T C 17: 83,770,922 (GRCm39) probably benign Het
Ermap A G 4: 119,042,888 (GRCm39) S212P probably benign Het
Esrrg T A 1: 187,775,538 (GRCm39) C22S probably benign Het
Evx2 T A 2: 74,488,238 (GRCm39) Y194F possibly damaging Het
Fbn2 T G 18: 58,191,461 (GRCm39) D1554A probably damaging Het
Flrt1 G A 19: 7,074,508 (GRCm39) probably benign Het
Fndc5 A G 4: 129,033,630 (GRCm39) probably benign Het
Frem1 A T 4: 82,907,403 (GRCm39) I837N probably damaging Het
Fzd10 G T 5: 128,679,662 (GRCm39) A461S possibly damaging Het
Ganab T A 19: 8,888,477 (GRCm39) Y511N probably damaging Het
Gbp7 A G 3: 142,243,926 (GRCm39) probably null Het
Gm5919 T A 9: 83,765,436 (GRCm39) C91S unknown Het
Gpr31b A T 17: 13,271,093 (GRCm39) C25* probably null Het
Grb10 A G 11: 11,886,755 (GRCm39) S505P probably damaging Het
Grm4 A T 17: 27,654,183 (GRCm39) V542E probably damaging Het
Gsta5 T C 9: 78,206,303 (GRCm39) I75T possibly damaging Het
Hivep3 G A 4: 119,954,531 (GRCm39) R949H possibly damaging Het
Hycc1 C T 5: 24,184,506 (GRCm39) G242D probably damaging Het
Invs A T 4: 48,407,653 (GRCm39) M543L probably benign Het
Kcnk2 T C 1: 188,988,927 (GRCm39) probably null Het
Kdm6b A T 11: 69,295,844 (GRCm39) S808T unknown Het
Klhl30 C T 1: 91,283,228 (GRCm39) R277W probably damaging Het
Lama1 A G 17: 68,080,707 (GRCm39) Q1245R probably benign Het
Lingo3 G T 10: 80,671,169 (GRCm39) H254N probably benign Het
Lzts1 A T 8: 69,588,392 (GRCm39) H521Q possibly damaging Het
Map3k19 A C 1: 127,749,919 (GRCm39) I1144S possibly damaging Het
Mast2 A G 4: 116,165,184 (GRCm39) S1411P probably damaging Het
Mast2 T C 4: 116,170,043 (GRCm39) probably benign Het
Mesp1 G T 7: 79,442,328 (GRCm39) S225R possibly damaging Het
Micu1 A G 10: 59,675,503 (GRCm39) T366A possibly damaging Het
Mideas G T 12: 84,205,077 (GRCm39) N834K possibly damaging Het
Mknk2 T C 10: 80,507,742 (GRCm39) probably null Het
Msh5 A G 17: 35,258,199 (GRCm39) L309P probably damaging Het
Myo7b T C 18: 32,127,962 (GRCm39) I577V probably benign Het
Myom2 T A 8: 15,167,698 (GRCm39) D1094E probably damaging Het
Nedd1 T C 10: 92,527,693 (GRCm39) probably null Het
Neu4 T C 1: 93,950,191 (GRCm39) L50S probably damaging Het
Noa1 T C 5: 77,457,722 (GRCm39) Y61C probably benign Het
Nsd3 A G 8: 26,199,096 (GRCm39) I1219V probably benign Het
Nup188 T A 2: 30,233,478 (GRCm39) probably null Het
Or10ag2 T A 2: 87,248,612 (GRCm39) Y71* probably null Het
Or5al5 A G 2: 85,961,378 (GRCm39) S210P probably damaging Het
Or6c208 T A 10: 129,224,162 (GRCm39) I220N possibly damaging Het
Or6k2 A T 1: 173,986,920 (GRCm39) T194S probably benign Het
Pbk G A 14: 66,051,245 (GRCm39) probably benign Het
Pcnx2 G A 8: 126,487,459 (GRCm39) T1848M possibly damaging Het
Pdzd7 C T 19: 45,033,914 (GRCm39) G57R possibly damaging Het
Pik3r4 C A 9: 105,546,386 (GRCm39) probably benign Het
Plce1 A G 19: 38,766,433 (GRCm39) S2153G probably damaging Het
Potefam1 C T 2: 111,044,928 (GRCm39) probably null Het
Pphln1 G A 15: 93,318,192 (GRCm39) V34M possibly damaging Het
Prrc2a T C 17: 35,375,308 (GRCm39) D1114G probably damaging Het
Prss16 T C 13: 22,193,546 (GRCm39) probably benign Het
Rtp3 T C 9: 110,816,168 (GRCm39) K128E probably damaging Het
Scn3a T A 2: 65,355,194 (GRCm39) I241F possibly damaging Het
Setd1a G A 7: 127,386,382 (GRCm39) V336I probably damaging Het
Sfpq A G 4: 126,916,762 (GRCm39) I320V possibly damaging Het
Skint5 A T 4: 113,620,679 (GRCm39) D678E unknown Het
Slc12a9 G A 5: 137,313,638 (GRCm39) P774S probably benign Het
Slc25a54 C G 3: 109,019,481 (GRCm39) L362V possibly damaging Het
Smarcd1 A G 15: 99,605,267 (GRCm39) probably null Het
Spata31e5 T A 1: 28,816,011 (GRCm39) N674Y probably damaging Het
Suco A T 1: 161,661,683 (GRCm39) M916K probably damaging Het
Tiam2 T C 17: 3,564,973 (GRCm39) S1404P possibly damaging Het
Topors T C 4: 40,260,333 (GRCm39) T984A unknown Het
Trabd2b A T 4: 114,443,767 (GRCm39) K308M probably damaging Het
Trmo A T 4: 46,377,083 (GRCm39) probably benign Het
Trpc3 A T 3: 36,725,654 (GRCm39) D107E probably benign Het
Ugcg C T 4: 59,207,798 (GRCm39) P46S probably benign Het
Uggt2 A C 14: 119,295,010 (GRCm39) Y539D probably benign Het
Wwc2 T G 8: 48,353,674 (GRCm39) probably benign Het
Zdbf2 T A 1: 63,344,109 (GRCm39) D829E 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
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
R3177:Nr1h4 UTSW 10 89,314,650 (GRCm39) missense possibly damaging 0.89
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 PCR Primer
(F):5'- TTCAAGCGTCCACGGACATCAC -3'
(R):5'- GCATTTGACCTCCAGCCAGTCTTAG -3'

Sequencing Primer
(F):5'- GTTGGCCCTATAAGATCCCTATAAG -3'
(R):5'- AATATTCCGCTCAGCGATGG -3'
Posted On 2013-07-11