Mutagenetix > Incidental Mutation

Incidental Mutation 'R8881:Nr1h4'

676931

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

068749-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.758) question?

Stock #

R8881 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

89290096-89369447 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 89319351 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 158 (Y158H)

Ref Sequence

ENSEMBL: ENSMUSP00000100934 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000058126] [ENSMUST00000105296] [ENSMUST00000105297]

AlphaFold

Q60641

Predicted Effect

probably damaging
Transcript: ENSMUST00000058126
AA Change: Y172H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000053092
Gene: ENSMUSG00000047638
AA Change: Y172H

Domain	Start	End	E-Value	Type
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: Y172H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000100933
Gene: ENSMUSG00000047638
AA Change: Y172H

Domain	Start	End	E-Value	Type
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 damaging
Transcript: ENSMUST00000105297
AA Change: Y158H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000100934
Gene: ENSMUSG00000047638
AA Change: Y158H

Domain	Start	End	E-Value	Type
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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.5%

Validation Efficiency

100% (69/69)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	G	A	7: 120,074,794 (GRCm39)	C612Y	probably benign	Het
Adam21	T	C	12: 81,606,650 (GRCm39)	T371A	probably benign	Het
Akap9	T	C	5: 4,011,279 (GRCm39)	S661P		Het
Anxa11	C	T	14: 25,874,687 (GRCm39)	R233C	probably damaging	Het
Capza3	A	C	6: 139,987,521 (GRCm39)	D40A	probably damaging	Het
Caskin1	C	A	17: 24,718,273 (GRCm39)	N294K	probably damaging	Het
Cdh1	T	C	8: 107,392,904 (GRCm39)	V796A	probably benign	Het
Cfap251	C	T	5: 123,462,438 (GRCm39)	P1249L	probably damaging	Het
Cped1	A	T	6: 22,119,578 (GRCm39)	T346S	possibly damaging	Het
Crisp4	A	T	1: 18,185,902 (GRCm39)	V278D	probably damaging	Het
Ddx60	A	C	8: 62,474,343 (GRCm39)	D1477A	possibly damaging	Het
Dmrtb1	T	C	4: 107,537,922 (GRCm39)	D82G	possibly damaging	Het
Dnah11	T	C	12: 118,077,647 (GRCm39)	N1282S	probably benign	Het
Dnah11	C	T	12: 118,090,550 (GRCm39)	V1104M	probably benign	Het
Dot1l	A	G	10: 80,621,429 (GRCm39)	E630G	probably damaging	Het
Dppa4	C	A	16: 48,108,299 (GRCm39)	T28K		Het
Dusp5	T	A	19: 53,529,745 (GRCm39)	S383T	probably benign	Het
Eef2k	C	T	7: 120,472,548 (GRCm39)	A87V	probably damaging	Het
Epha1	T	C	6: 42,337,961 (GRCm39)	Y828C	probably damaging	Het
Erbb4	A	C	1: 68,382,997 (GRCm39)		probably null	Het
Fam151b	T	A	13: 92,604,630 (GRCm39)	M120L	probably benign	Het
Fam237b	A	C	5: 5,625,379 (GRCm39)	D25A	possibly damaging	Het
Fez2	T	C	17: 78,689,051 (GRCm39)	D366G	probably damaging	Het
Frmd4b	G	T	6: 97,272,735 (GRCm39)	H886N	probably benign	Het
Galnt17	T	C	5: 130,906,635 (GRCm39)	H511R	probably benign	Het
Grpel1	C	A	5: 36,626,816 (GRCm39)	Q33K	possibly damaging	Het
Gzmm	A	C	10: 79,530,819 (GRCm39)		probably null	Het
Hmcn1	C	A	1: 150,525,723 (GRCm39)	L3333F	probably damaging	Het
Il21r	A	T	7: 125,231,498 (GRCm39)	T309S	probably benign	Het
Itgal	G	A	7: 126,929,541 (GRCm39)	V1153M	probably benign	Het
Kdf1	G	A	4: 133,257,654 (GRCm39)	A390T	possibly damaging	Het
Lcn11	G	T	2: 25,669,296 (GRCm39)	R151L	probably benign	Het
Lgi3	T	A	14: 70,770,282 (GRCm39)	Y116N	probably damaging	Het
Llgl2	A	G	11: 115,743,866 (GRCm39)	H731R	probably benign	Het
Lrp5	A	T	19: 3,641,015 (GRCm39)	S1482T	probably damaging	Het
Meis2	T	C	2: 115,889,116 (GRCm39)	D212G	probably benign	Het
Mrgpra9	A	G	7: 46,885,242 (GRCm39)	C142R	possibly damaging	Het
Mrgprf	A	G	7: 144,861,999 (GRCm39)	H187R	probably benign	Het
Mvd	A	G	8: 123,164,564 (GRCm39)		probably null	Het
Neb	T	C	2: 52,096,999 (GRCm39)	I4938M	possibly damaging	Het
Nipal4	A	T	11: 46,042,177 (GRCm39)	M168K	probably benign	Het
Nrxn2	T	C	19: 6,554,920 (GRCm39)	I1133T	probably benign	Het
Numa1	T	C	7: 101,650,684 (GRCm39)	Y1472H	probably benign	Het
Or10ak8	A	G	4: 118,774,571 (GRCm39)	V31A	probably benign	Het
Or12j3	A	G	7: 139,952,698 (GRCm39)	V275A	probably benign	Het
Or2y10	G	A	11: 49,455,209 (GRCm39)	V154M	probably benign	Het
Or3a1d	T	C	11: 74,237,471 (GRCm39)	D313G	probably benign	Het
Or52h7	A	G	7: 104,213,619 (GRCm39)	M64V	possibly damaging	Het
Pate7	T	A	9: 35,689,384 (GRCm39)		probably benign	Het
Pcdha6	G	T	18: 37,101,484 (GRCm39)	V226F	probably damaging	Het
Pnpla6	G	A	8: 3,581,489 (GRCm39)	M605I	probably benign	Het
Ppp1r13l	G	A	7: 19,105,194 (GRCm39)	R322H	probably damaging	Het
Sgtb	T	C	13: 104,258,046 (GRCm39)		probably null	Het
Skint6	T	C	4: 112,672,716 (GRCm39)	K1086E	possibly damaging	Het
Slc4a11	T	C	2: 130,527,457 (GRCm39)	E646G	probably damaging	Het
Speg	G	T	1: 75,377,795 (GRCm39)	R851L	possibly damaging	Het
Spns3	T	G	11: 72,429,912 (GRCm39)	D172A	probably damaging	Het
Srgap3	A	G	6: 112,700,098 (GRCm39)	V984A	probably benign	Het
Syne1	A	T	10: 5,223,639 (GRCm39)	D3080E	probably damaging	Het
Taf5l	T	C	8: 124,730,101 (GRCm39)	H196R	possibly damaging	Het
Tmem229a	G	C	6: 24,955,587 (GRCm39)	R56G	probably damaging	Het
Tmprss6	A	C	15: 78,327,987 (GRCm39)	*582G	probably null	Het
Trip13	C	A	13: 74,077,795 (GRCm39)	R173L	possibly damaging	Het
Trpm7	A	T	2: 126,661,883 (GRCm39)	V1055E	probably damaging	Het
Utrn	A	G	10: 12,423,737 (GRCm39)	I2T	possibly damaging	Het
V1rd19	T	A	7: 23,703,081 (GRCm39)	S182R	possibly damaging	Het
Vmn2r58	C	A	7: 41,486,609 (GRCm39)	G762V	probably benign	Het
Zfp874b	T	C	13: 67,622,141 (GRCm39)	K386E	probably damaging	Het

Other mutations in Nr1h4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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'- GTCCTTAACATGGGGTGGTC -3'
(R):5'- CCTTTTCTATAACAGCGCGC -3'

Sequencing Primer
(F):5'- TCTGAGTTACCTGGCGCCTG -3'
(R):5'- GCGGTGAAATGTCCATTGCTACATC -3'

Posted On

2021-07-15