Mutagenetix > Incidental Mutation

Incidental Mutation 'R1887:Nr1h4'

209663

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

039908-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.758) question?

Stock #

R1887 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

89290096-89369447 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 89290729 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 433 (M433K)

Ref Sequence

ENSEMBL: ENSMUSP00000053092 (fasta)

Gene Model

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

AlphaFold

Q60641

Predicted Effect

possibly damaging
Transcript: ENSMUST00000058126
AA Change: M433K

PolyPhen 2 Score 0.641 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000053092
Gene: ENSMUSG00000047638
AA Change: M433K

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: M437K

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

SMART Domains

Protein: ENSMUSP00000100933
Gene: ENSMUSG00000047638
AA Change: M437K

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: M423K

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

SMART Domains

Protein: ENSMUSP00000100934
Gene: ENSMUSG00000047638
AA Change: M423K

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: 97.1%
3x: 96.1%
10x: 93.2%
20x: 86.9%

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700034J05Rik	T	C	6: 146,853,909 (GRCm39)	I249M	possibly damaging	Het
1700102P08Rik	T	A	9: 108,270,809 (GRCm39)	D124E	possibly damaging	Het
4930544D05Rik	A	G	11: 70,507,249 (GRCm39)	E98G	probably damaging	Het
Abca8a	A	T	11: 109,980,768 (GRCm39)	M90K	probably damaging	Het
Adamts9	A	G	6: 92,849,769 (GRCm39)		probably null	Het
Adora3	A	C	3: 105,812,152 (GRCm39)	N13H	possibly damaging	Het
Aen	A	T	7: 78,557,073 (GRCm39)	D307V	probably damaging	Het
Akr1c18	T	A	13: 4,193,287 (GRCm39)	N126I	probably benign	Het
Ankmy2	T	A	12: 36,220,467 (GRCm39)	M51K	possibly damaging	Het
Antkmt	C	A	17: 26,010,319 (GRCm39)		probably null	Het
Apc	A	G	18: 34,405,521 (GRCm39)	E159G	probably damaging	Het
Arhgef28	G	T	13: 98,282,081 (GRCm39)	S4R	probably damaging	Het
Atg2b	G	A	12: 105,620,351 (GRCm39)	T784M	probably benign	Het
Atp11a	A	G	8: 12,862,324 (GRCm39)	N59D	probably damaging	Het
Cacna1h	T	C	17: 25,595,861 (GRCm39)	Y1875C	probably benign	Het
Capza1	A	T	3: 104,747,096 (GRCm39)		probably null	Het
Ccdc81	T	C	7: 89,515,819 (GRCm39)	E620G	possibly damaging	Het
Cdcp2	T	C	4: 106,959,899 (GRCm39)	F105L	probably damaging	Het
Cdhr18	A	C	14: 13,828,607 (GRCm38)	Y718D	probably damaging	Het
Cep152	A	T	2: 125,462,225 (GRCm39)	M58K	probably benign	Het
Comtd1	A	G	14: 21,897,809 (GRCm39)	L108P	probably damaging	Het
Cyp2b13	A	G	7: 25,788,075 (GRCm39)	Y401C	probably damaging	Het
Dap3	A	G	3: 88,838,281 (GRCm39)	L86P	probably damaging	Het
Dmxl1	G	A	18: 49,992,202 (GRCm39)	R316H	probably benign	Het
Eea1	T	A	10: 95,854,073 (GRCm39)		probably null	Het
Eeig1	T	A	2: 32,450,140 (GRCm39)	N129K	possibly damaging	Het
Ezhip	GTCATCATCATCATC	GTCATCATCATCATCATC	X: 5,994,645 (GRCm39)		probably benign	Het
Fam171a1	T	C	2: 3,221,380 (GRCm39)	V157A	probably damaging	Het
Fat3	T	A	9: 15,878,357 (GRCm39)	I3375F	probably damaging	Het
Fmod	A	G	1: 133,968,551 (GRCm39)	E197G	possibly damaging	Het
Fsd1l	T	C	4: 53,696,984 (GRCm39)		probably null	Het
Gbp2b	A	G	3: 142,314,063 (GRCm39)	T448A	probably benign	Het
Gpatch1	A	T	7: 35,002,813 (GRCm39)	N232K	probably damaging	Het
H2-Q4	A	G	17: 35,599,113 (GRCm39)	R128G	possibly damaging	Het
Hc	T	C	2: 34,924,623 (GRCm39)	I435V	probably benign	Het
Hmgxb3	A	G	18: 61,270,473 (GRCm39)		probably null	Het
Il23r	A	T	6: 67,450,785 (GRCm39)	D231E	possibly damaging	Het
Irag1	A	G	7: 110,523,740 (GRCm39)		probably null	Het
Kcnt2	T	A	1: 140,511,985 (GRCm39)	S1023T	probably damaging	Het
Klc2	A	G	19: 5,158,640 (GRCm39)	V618A	probably benign	Het
Lzts1	T	C	8: 69,591,485 (GRCm39)	D221G	probably damaging	Het
Mdn1	G	C	4: 32,742,540 (GRCm39)	R3926P	probably damaging	Het
Med24	A	G	11: 98,609,642 (GRCm39)		probably benign	Het
Mga	T	A	2: 119,754,098 (GRCm39)	L869Q	probably damaging	Het
Mob3a	G	A	10: 80,527,068 (GRCm39)	Q86*	probably null	Het
Ncoa7	T	C	10: 30,524,448 (GRCm39)	N823S	possibly damaging	Het
Nlrp5	T	A	7: 23,116,909 (GRCm39)	V211D	probably damaging	Het
Ofcc1	T	C	13: 40,360,100 (GRCm39)	S310G	possibly damaging	Het
Or4k49	G	T	2: 111,495,099 (GRCm39)	S176I	probably damaging	Het
Or5p57	T	C	7: 107,665,985 (GRCm39)	N7D	probably benign	Het
Or8k22	A	G	2: 86,163,617 (GRCm39)	F28L	possibly damaging	Het
Pdlim7	C	T	13: 55,653,981 (GRCm39)	G212D	probably benign	Het
Pdzd4	G	A	X: 72,839,052 (GRCm39)	R419C	probably damaging	Het
Pik3cd	T	A	4: 149,737,091 (GRCm39)	I902F	probably damaging	Het
Pip5kl1	A	G	2: 32,468,517 (GRCm39)	T198A	probably damaging	Het
Prkdc	T	C	16: 15,647,499 (GRCm39)	V3641A	probably benign	Het
Rp1l1	T	C	14: 64,265,839 (GRCm39)	V475A	probably benign	Het
Rpl37	C	T	15: 5,148,072 (GRCm39)	T83M	possibly damaging	Het
Scml4	A	G	10: 42,788,223 (GRCm39)	Y51C	probably damaging	Het
Serinc5	A	T	13: 92,838,214 (GRCm39)	D340V	possibly damaging	Het
Stambpl1	A	G	19: 34,213,808 (GRCm39)	I346V	probably benign	Het
Syna	G	A	5: 134,588,106 (GRCm39)	S281L	probably benign	Het
Tcstv2a	G	T	13: 120,725,604 (GRCm39)	K89N	probably damaging	Het
Tet2	T	C	3: 133,193,094 (GRCm39)	T447A	possibly damaging	Het
Tgfbr3	A	G	5: 107,284,874 (GRCm39)	F592L	probably damaging	Het
Tmc7	A	T	7: 118,160,310 (GRCm39)	F176I	possibly damaging	Het
Trip4	T	A	9: 65,782,163 (GRCm39)	I190F	probably null	Het
Ttc6	T	A	12: 57,720,044 (GRCm39)	S872T	probably benign	Het
Ttc7b	C	T	12: 100,381,389 (GRCm39)		probably null	Het
Ubap2	C	T	4: 41,199,872 (GRCm39)	A752T	probably benign	Het
Ubr4	T	C	4: 139,182,871 (GRCm39)	L419P	probably damaging	Het
Ush2a	C	A	1: 188,132,177 (GRCm39)	Q800K	probably benign	Het
Vmn2r115	T	C	17: 23,565,007 (GRCm39)	I298T	possibly damaging	Het
Vmn2r28	T	C	7: 5,491,288 (GRCm39)	T320A	possibly damaging	Het
Zfp804b	T	C	5: 6,820,376 (GRCm39)	R860G	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
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'- ACAAGGTTTCTGTTCCGAGG -3'
(R):5'- TGCATAGTAATCAGTGGATAAGCC -3'

Sequencing Primer
(F):5'- AGGACAAGGAGCCAGCCC -3'
(R):5'- TGGATAAGCCAACATTTAAAGAAGC -3'

Posted On

2014-06-30