Mutagenetix > Incidental Mutation

Incidental Mutation 'R4656:Nr1h4'

352451

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

041916-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.656) question?

Stock #

R4656 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

89290096-89369447 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 89334115 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 78 (S78P)

Ref Sequence

ENSEMBL: ENSMUSP00000100934 (fasta)

Gene Model

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

AlphaFold

Q60641

Predicted Effect

probably benign
Transcript: ENSMUST00000058126
AA Change: S92P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000053092
Gene: ENSMUSG00000047638
AA Change: S92P

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 benign
Transcript: ENSMUST00000105296
AA Change: S92P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000100933
Gene: ENSMUSG00000047638
AA Change: S92P

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 benign
Transcript: ENSMUST00000105297
AA Change: S78P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000100934
Gene: ENSMUSG00000047638
AA Change: S78P

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

Meta Mutation Damage Score

0.0641

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

96% (80/83)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310003L06Rik	G	A	5: 88,112,534 (GRCm39)		probably benign	Het
4931406B18Rik	T	A	7: 43,150,565 (GRCm39)	H69L	probably benign	Het
Ace2	T	C	X: 162,936,110 (GRCm39)	S84P	probably benign	Het
Adgb	A	C	10: 10,281,050 (GRCm39)	N656K	probably damaging	Het
Ago3	G	T	4: 126,257,545 (GRCm39)	Y495*	probably null	Het
Ahnak	G	A	19: 8,982,219 (GRCm39)	V1168M	possibly damaging	Het
Armc10	A	G	5: 21,866,548 (GRCm39)	R271G	probably benign	Het
Atp4a	T	G	7: 30,419,373 (GRCm39)		probably benign	Het
Casp1	C	T	9: 5,304,324 (GRCm39)	P333S	probably damaging	Het
Ceacam9	C	T	7: 16,457,574 (GRCm39)	A34V	probably benign	Het
Ces1b	C	G	8: 93,784,042 (GRCm39)	E488Q	probably damaging	Het
Ces2h	A	T	8: 105,741,271 (GRCm39)	T88S	possibly damaging	Het
Cfap410	G	A	10: 77,817,450 (GRCm39)	R59H	probably benign	Het
Col2a1	C	T	15: 97,874,057 (GRCm39)	G1375D	unknown	Het
Cyp1a1	T	C	9: 57,609,893 (GRCm39)	F436L	probably damaging	Het
Dcaf7	T	C	11: 105,944,624 (GRCm39)	V269A	probably damaging	Het
Disp2	T	C	2: 118,621,044 (GRCm39)	L592P	probably damaging	Het
Eda2r	T	A	X: 96,385,239 (GRCm39)	Q171L	probably damaging	Het
Egln2	A	G	7: 26,858,618 (GRCm39)	V408A	probably benign	Het
Gabpb2	A	G	3: 95,096,252 (GRCm39)	L325P	probably damaging	Het
Gigyf1	C	A	5: 137,523,477 (GRCm39)	Y936*	probably null	Het
Gm14149	A	T	2: 151,072,684 (GRCm39)		noncoding transcript	Het
Gnl2	C	T	4: 124,934,790 (GRCm39)	Q149*	probably null	Het
Gpr107	C	T	2: 31,104,261 (GRCm39)	T522M	probably damaging	Het
Grpr	T	A	X: 162,297,992 (GRCm39)	S351C	probably damaging	Het
Gsdma	T	C	11: 98,563,907 (GRCm39)	L287P	probably damaging	Het
Herc1	A	G	9: 66,301,993 (GRCm39)	T652A	probably damaging	Het
Ifi204	C	A	1: 173,587,927 (GRCm39)		probably benign	Het
Irx2	T	C	13: 72,779,417 (GRCm39)	S234P	probably damaging	Het
Itgal	T	A	7: 126,921,725 (GRCm39)	D808E	probably damaging	Het
Krt13	C	A	11: 100,010,189 (GRCm39)	R264L	probably damaging	Het
Marchf1	T	A	8: 66,839,071 (GRCm39)	L38I	probably benign	Het
Megf9	T	C	4: 70,367,004 (GRCm39)	H326R	probably damaging	Het
Mif4gd	G	T	11: 115,499,163 (GRCm39)		probably benign	Het
Mroh9	A	T	1: 162,893,593 (GRCm39)	M194K	probably damaging	Het
Nhlrc3	A	G	3: 53,370,501 (GRCm39)	S22P	probably damaging	Het
Nipal2	A	T	15: 34,577,714 (GRCm39)		probably null	Het
Ofcc1	G	A	13: 40,168,864 (GRCm39)	T841I	probably damaging	Het
Olfr908	A	T	9: 38,427,852 (GRCm39)	N175Y	probably damaging	Het
Or1e30	A	T	11: 73,678,337 (GRCm39)	D191V	probably damaging	Het
Or52d13	C	T	7: 103,109,695 (GRCm39)	R235Q	probably benign	Het
Pdzd2	A	G	15: 12,385,797 (GRCm39)	V991A	probably benign	Het
Pex1	G	A	5: 3,654,880 (GRCm39)		probably null	Het
Plch1	G	T	3: 63,611,598 (GRCm39)	A859E	probably damaging	Het
Pramel32	T	C	4: 88,548,202 (GRCm39)	T68A	probably benign	Het
Ranbp2	A	G	10: 58,289,244 (GRCm39)	K84R	possibly damaging	Het
Rbm14	T	C	19: 4,861,463 (GRCm39)	Y25C	probably damaging	Het
Rmi2	A	G	16: 10,653,186 (GRCm39)	D78G	probably damaging	Het
Serpina3k	C	A	12: 104,311,532 (GRCm39)	T370K	probably damaging	Het
Shc2	A	T	10: 79,457,003 (GRCm39)	L538M	probably damaging	Het
Skint1	A	G	4: 111,878,674 (GRCm39)	K202R	probably damaging	Het
Slc22a29	C	A	19: 8,195,664 (GRCm39)	S125I	possibly damaging	Het
Slc5a9	C	A	4: 111,748,941 (GRCm39)		probably null	Het
Slco4c1	A	T	1: 96,768,970 (GRCm39)	D297E	probably benign	Het
Slco6d1	T	C	1: 98,350,928 (GRCm39)	F136S	probably benign	Het
Smg1	A	T	7: 117,812,174 (GRCm39)	V39E	probably benign	Het
Spns1	G	T	7: 125,973,474 (GRCm39)		probably benign	Het
Spsb1	A	G	4: 149,990,867 (GRCm39)		probably null	Het
Sspo	T	G	6: 48,431,010 (GRCm39)	I631S	possibly damaging	Het
Syne2	T	C	12: 76,078,147 (GRCm39)	L4694P	probably damaging	Het
Taf5l	T	C	8: 124,724,844 (GRCm39)	E325G	probably benign	Het
Tars1	A	T	15: 11,394,350 (GRCm39)	S96T	probably damaging	Het
Tdrd12	T	C	7: 35,184,679 (GRCm39)	K745E	probably damaging	Het
Tenm3	A	G	8: 48,746,761 (GRCm39)	Y1015H	probably damaging	Het
Trpv3	T	A	11: 73,186,240 (GRCm39)	M677K	probably damaging	Het
Txlnb	A	T	10: 17,691,024 (GRCm39)	K191N	probably damaging	Het
Ubr1	A	G	2: 120,756,494 (GRCm39)	V711A	probably benign	Het
Uqcrb	T	C	13: 67,049,603 (GRCm39)	T41A	probably benign	Het
Usp6nl	A	G	2: 6,445,973 (GRCm39)	Y627C	probably damaging	Het
Vezf1	A	G	11: 87,965,493 (GRCm39)	D245G	probably damaging	Het
Vmn2r66	A	G	7: 84,661,204 (GRCm39)	W9R	possibly damaging	Het
Wdr17	C	T	8: 55,134,434 (GRCm39)	G349R	probably damaging	Het
Wdr35	T	A	12: 9,066,619 (GRCm39)	M749K	probably benign	Het
Wrn	A	T	8: 33,826,019 (GRCm39)		probably null	Het
Zfy1	T	G	Y: 729,626 (GRCm39)	T339P	unknown	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
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'- GAAAGCTCTCACCTTTGCAGC -3'
(R):5'- TGTTGATCCTTTACTTCAGGTATGC -3'

Sequencing Primer
(F):5'- TTTGCAGCCCTCACAGGTG -3'
(R):5'- TTCAGGTATGCTAACAGAACACG -3'

Posted On

2015-10-08