Mutagenetix > Incidental Mutation

Incidental Mutation 'R9792:Nr1h4'

734698

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

Accession Numbers

Essential gene?

Probably essential (E-score: 0.758) question?

Stock #

R9792 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

89290096-89369447 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 89314651 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Proline at position 286 (T286P)

Ref Sequence

ENSEMBL: ENSMUSP00000100933 (fasta)

Gene Model

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

AlphaFold

Q60641

Predicted Effect

possibly damaging
Transcript: ENSMUST00000058126
AA Change: T282P

PolyPhen 2 Score 0.824 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000053092
Gene: ENSMUSG00000047638
AA Change: T282P

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: T286P

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000100933
Gene: ENSMUSG00000047638
AA Change: T286P

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: T272P

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000100934
Gene: ENSMUSG00000047638
AA Change: T272P

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: 99.9%
3x: 99.8%
10x: 99.3%
20x: 98.0%

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700029F12Rik	T	C	13: 97,166,719 (GRCm39)	D99G	unknown	Het
Add2	A	T	6: 86,078,135 (GRCm39)		probably null	Het
Afap1l1	T	C	18: 61,874,822 (GRCm39)	D453G	possibly damaging	Het
Agrn	A	G	4: 156,261,129 (GRCm39)	V656A	probably benign	Het
Alpk3	T	C	7: 80,750,881 (GRCm39)		probably null	Het
Ano1	A	T	7: 144,175,434 (GRCm39)	W495R	probably damaging	Het
Apc	T	A	18: 34,447,628 (GRCm39)	L1508Q	probably damaging	Het
Bbs12	C	T	3: 37,374,224 (GRCm39)	T224I	possibly damaging	Het
Cald1	A	T	6: 34,723,071 (GRCm39)	M52L		Het
Calhm6	T	C	10: 34,002,544 (GRCm39)	I180V	probably damaging	Het
Ccdc9b	T	C	2: 118,587,784 (GRCm39)	S517G	unknown	Het
Cdk11b	T	A	4: 155,732,378 (GRCm39)	H510Q	unknown	Het
Cdk12	T	A	11: 98,102,051 (GRCm39)	D636E	unknown	Het
Cfap53	A	G	18: 74,438,741 (GRCm39)	D306G	probably benign	Het
Cnnm1	T	C	19: 43,482,252 (GRCm39)		probably null	Het
Cnrip1	G	A	11: 17,004,812 (GRCm39)	A121T	probably benign	Het
Cntnap5c	A	T	17: 58,409,192 (GRCm39)	T477S	probably benign	Het
Cyp2c54	G	C	19: 40,034,525 (GRCm39)	P382A	probably damaging	Het
Cyp4a30b	A	G	4: 115,316,167 (GRCm39)	T298A	probably benign	Het
Dmkn	A	T	7: 30,464,845 (GRCm39)	N273Y	unknown	Het
Dsp	A	G	13: 38,379,494 (GRCm39)	T2080A	possibly damaging	Het
Ermard	T	C	17: 15,281,441 (GRCm39)	L617P	probably damaging	Het
Grik3	A	G	4: 125,526,315 (GRCm39)	T183A	probably damaging	Het
Gstt1	T	C	10: 75,634,391 (GRCm39)		probably benign	Het
Hao1	T	A	2: 134,372,552 (GRCm39)	Y152F	possibly damaging	Het
Hdac7	T	C	15: 97,698,671 (GRCm39)	T629A	possibly damaging	Het
Hmcn1	G	A	1: 150,608,689 (GRCm39)	P1498S	possibly damaging	Het
Iqcf3	T	A	9: 106,434,714 (GRCm39)	K41N	probably benign	Het
Lrriq3	T	C	3: 154,893,313 (GRCm39)	M338T	probably benign	Het
Ltbp2	A	T	12: 84,876,128 (GRCm39)	I493N	probably damaging	Het
Map1a	T	C	2: 121,121,304 (GRCm39)		probably null	Het
Mzf1	T	C	7: 12,786,131 (GRCm39)	T267A	probably benign	Het
N4bp2l2	A	G	5: 150,584,897 (GRCm39)	I19T	probably benign	Het
Ncoa2	G	T	1: 13,260,355 (GRCm39)	Q107K	possibly damaging	Het
Nin	A	T	12: 70,094,009 (GRCm39)	I605N		Het
Nsd2	A	G	5: 34,003,489 (GRCm39)	D213G	possibly damaging	Het
Nuggc	T	C	14: 65,847,345 (GRCm39)	S131P	probably damaging	Het
Or4a78	T	C	2: 89,497,811 (GRCm39)	I140V	probably benign	Het
Or4f14c	T	C	2: 111,941,330 (GRCm39)	H89R	probably benign	Het
Or52m1	G	A	7: 102,289,788 (GRCm39)	V112I	probably benign	Het
Or5b113	A	T	19: 13,342,514 (GRCm39)	H174L	probably damaging	Het
Or8h9	T	A	2: 86,789,119 (GRCm39)	I228F	probably damaging	Het
Otud7a	C	T	7: 63,378,845 (GRCm39)	R232W	probably damaging	Het
Pacsin3	C	A	2: 91,094,160 (GRCm39)	A363D	probably benign	Het
Pcdh17	C	T	14: 84,770,350 (GRCm39)	R943*	probably null	Het
Pcnx2	A	G	8: 126,534,820 (GRCm39)	F1270L	probably damaging	Het
Pds5a	T	C	5: 65,795,989 (GRCm39)	M634V	probably benign	Het
Pkd1	A	G	17: 24,800,172 (GRCm39)	T2978A	probably benign	Het
Pkhd1l1	T	C	15: 44,406,983 (GRCm39)	S2407P	probably benign	Het
Polr2i	T	C	7: 29,932,190 (GRCm39)	Y44H	probably damaging	Het
Ppip5k2	A	T	1: 97,671,822 (GRCm39)	Y489*	probably null	Het
Ppp3r1	C	A	11: 17,132,117 (GRCm39)	A5E	probably benign	Het
Pramel60	C	A	5: 95,339,810 (GRCm39)	H110N	probably damaging	Het
Rasgrp1	T	C	2: 117,118,429 (GRCm39)	D520G	probably benign	Het
Rex2	A	C	4: 147,142,039 (GRCm39)	N176H	probably damaging	Het
Rsl1d1	T	C	16: 11,017,300 (GRCm39)	N194S	possibly damaging	Het
Sidt2	A	G	9: 45,850,563 (GRCm39)	Y851H	probably damaging	Het
Slc5a8	T	C	10: 88,757,591 (GRCm39)	I527T	possibly damaging	Het
Slc6a7	C	A	18: 61,138,866 (GRCm39)	R214L	probably benign	Het
Stx7	T	C	10: 24,057,475 (GRCm39)	L167P	probably damaging	Het
Tas2r120	A	T	6: 132,634,528 (GRCm39)	K203N	possibly damaging	Het
Tbc1d22a	T	C	15: 86,119,839 (GRCm39)	L81P	probably damaging	Het
Tert	A	G	13: 73,792,442 (GRCm39)	E903G	probably benign	Het
Tpm4	A	G	8: 72,905,663 (GRCm39)	I248V	probably benign	Het
Trim42	A	G	9: 97,245,429 (GRCm39)	I457T	probably damaging	Het
Ttc23l	T	A	15: 10,537,731 (GRCm39)	I180F	probably benign	Het
Usp9y	T	C	Y: 1,364,679 (GRCm39)	M1045V	probably benign	Het
Vim	A	G	2: 13,579,598 (GRCm39)	D119G	probably benign	Het
Vmn1r82	A	T	7: 12,039,083 (GRCm39)	M119L	probably benign	Het
Vmn2r118	T	C	17: 55,899,496 (GRCm39)	T803A	probably damaging	Het
Vwa3a	C	A	7: 120,383,307 (GRCm39)	A636D	probably damaging	Het
Zbtb7a	G	A	10: 80,980,378 (GRCm39)	A191T	probably benign	Het
Zfp819	A	G	7: 43,261,519 (GRCm39)	H62R	possibly 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
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
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'- TAGACCTGAGACTTCCTTTCCAATTG -3'
(R):5'- TCACAGCTCTTGGAGGCTTTG -3'

Sequencing Primer
(F):5'- AGACTTCCTTTCCAATTGTTTAATGC -3'
(R):5'- AATCCTTCGTCATTAGTTTGTTTCAG -3'

Posted On

2022-11-14