Mutagenetix > Incidental Mutation

Incidental Mutation 'R9776:Nr1h4'

733722

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?

Possibly essential (E-score: 0.656) question?

Stock #

R9776 (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 C at 89319311 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 185 (Y185C)

Ref Sequence

ENSEMBL: ENSMUSP00000100933 (fasta)

Gene Model

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

AlphaFold

Q60641

Predicted Effect

probably damaging
Transcript: ENSMUST00000058126
AA Change: Y185C

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

SMART Domains

Protein: ENSMUSP00000053092
Gene: ENSMUSG00000047638
AA Change: Y185C

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: Y185C

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

SMART Domains

Protein: ENSMUSP00000100933
Gene: ENSMUSG00000047638
AA Change: Y185C

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: Y171C

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

SMART Domains

Protein: ENSMUSP00000100934
Gene: ENSMUSG00000047638
AA Change: Y171C

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: 99.4%
20x: 98.5%

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700069L16Rik	T	G	5: 113,861,765 (GRCm39)	Q35P	unknown	Het
2010109A12Rik	T	A	5: 93,361,305 (GRCm39)	*120K	probably null	Het
2700049A03Rik	A	G	12: 71,235,448 (GRCm39)	T1133A	possibly damaging	Het
A830005F24Rik	G	A	13: 48,667,758 (GRCm39)	R20Q	unknown	Het
Acta2	T	C	19: 34,223,481 (GRCm39)	T205A	probably benign	Het
Adcy5	A	G	16: 35,100,725 (GRCm39)	D759G	probably damaging	Het
Ankk1	T	A	9: 49,330,714 (GRCm39)	M276L	probably benign	Het
Arfgef2	G	A	2: 166,713,447 (GRCm39)	E1283K	probably damaging	Het
Arhgef26	G	T	3: 62,246,803 (GRCm39)		probably benign	Het
Arhgef28	A	C	13: 98,133,415 (GRCm39)	S351A	probably benign	Het
Arih2	C	T	9: 108,484,504 (GRCm39)	G436S	probably damaging	Het
Bptf	T	C	11: 106,969,396 (GRCm39)	T1013A	probably damaging	Het
Camsap1	A	T	2: 25,828,166 (GRCm39)	V1186E	probably benign	Het
Capn10	G	T	1: 92,871,586 (GRCm39)	A395S	possibly damaging	Het
Ccdc184	A	T	15: 98,066,737 (GRCm39)	T181S	probably damaging	Het
Clasp1	T	C	1: 118,509,108 (GRCm39)	I1345T	possibly damaging	Het
Cpsf1	A	T	15: 76,486,779 (GRCm39)	H252Q	probably damaging	Het
Ctnna2	T	A	6: 77,582,172 (GRCm39)	M363L	probably benign	Het
Cyp24a1	G	A	2: 170,338,625 (GRCm39)	P24S	probably benign	Het
D130040H23Rik	A	G	8: 69,755,566 (GRCm39)	H341R	probably damaging	Het
Dclk3	A	G	9: 111,298,226 (GRCm39)	E590G	probably damaging	Het
Ear2	A	T	14: 44,340,729 (GRCm39)	Y129F	probably benign	Het
Egf	A	G	3: 129,530,514 (GRCm39)	L216P	probably damaging	Het
Fbxw9	T	A	8: 85,792,523 (GRCm39)	H319Q	probably damaging	Het
Gipr	A	G	7: 18,891,487 (GRCm39)	S397P	probably damaging	Het
Gxylt2	G	T	6: 100,682,072 (GRCm39)	E90*	probably null	Het
Hnf1b	T	C	11: 83,784,283 (GRCm39)	V473A	probably benign	Het
Iffo1	G	A	6: 125,130,436 (GRCm39)	E475K	probably damaging	Het
Ifi206	T	A	1: 173,308,075 (GRCm39)	R640S		Het
Ipmk	A	G	10: 71,217,439 (GRCm39)	S328G	probably damaging	Het
Kcnq1	A	T	7: 142,737,368 (GRCm39)	I229F	probably damaging	Het
Kif9	C	A	9: 110,350,398 (GRCm39)	T763N	probably benign	Het
Klhl36	C	T	8: 120,601,129 (GRCm39)	Q383*	probably null	Het
Lrp4	G	T	2: 91,316,179 (GRCm39)	V766F	probably damaging	Het
Mettl26	T	A	17: 26,094,511 (GRCm39)	M3K	probably benign	Het
Muc16	T	A	9: 18,570,675 (GRCm39)	I615F	unknown	Het
Myo7b	T	A	18: 32,133,068 (GRCm39)	Q427L	probably benign	Het
Naip1	A	G	13: 100,559,584 (GRCm39)	M1140T	probably benign	Het
Ncapg	G	A	5: 45,829,834 (GRCm39)	V179I	probably damaging	Het
Nme4	C	T	17: 26,314,410 (GRCm39)	G6E	possibly damaging	Het
Nt5c3b	T	C	11: 100,327,012 (GRCm39)	I95V	probably benign	Het
Ntaq1	A	G	15: 58,004,913 (GRCm39)	T9A	probably benign	Het
Or2y3	C	T	17: 38,393,470 (GRCm39)	R133H	probably benign	Het
Or5g9	A	T	2: 85,552,145 (GRCm39)	Y132F	probably damaging	Het
Or5t16	A	T	2: 86,819,055 (GRCm39)	I155N	probably damaging	Het
Pappa2	G	T	1: 158,611,481 (GRCm39)	P1494Q	probably damaging	Het
Pdzd2	A	G	15: 12,457,909 (GRCm39)	F144S	probably benign	Het
Phactr3	A	G	2: 177,975,896 (GRCm39)	H547R	probably damaging	Het
Pik3c2b	T	A	1: 133,018,588 (GRCm39)	S1012T	possibly damaging	Het
Plppr2	G	A	9: 21,859,107 (GRCm39)	G408D	probably damaging	Het
Pom121	T	A	5: 135,420,554 (GRCm39)	N289I	unknown	Het
Ppa1	T	A	10: 61,487,362 (GRCm39)	S30T	probably damaging	Het
Rgs5	A	T	1: 169,518,089 (GRCm39)	K108*	probably null	Het
Rpap1	A	G	2: 119,607,278 (GRCm39)	V287A	probably benign	Het
Ryr1	A	G	7: 28,774,664 (GRCm39)	Y2326H	probably damaging	Het
Ryr2	A	G	13: 11,707,599 (GRCm39)	S2813P	probably damaging	Het
Sap25	T	C	5: 137,640,702 (GRCm39)		probably null	Het
Senp5	T	C	16: 31,782,279 (GRCm39)	Y739C	probably damaging	Het
Slc25a29	A	T	12: 108,793,017 (GRCm39)	L187Q	possibly damaging	Het
Slc7a2	C	T	8: 41,358,641 (GRCm39)	T328M	probably damaging	Het
Slc7a8	T	C	14: 55,018,759 (GRCm39)	N9S	probably benign	Het
Snx18	A	G	13: 113,754,039 (GRCm39)	V298A	probably benign	Het
Spo11	T	A	2: 172,833,904 (GRCm39)	I342N	possibly damaging	Het
Ssc5d	A	G	7: 4,932,367 (GRCm39)	K344E	probably benign	Het
Sspo	A	T	6: 48,439,269 (GRCm39)	D1639V	probably benign	Het
Stk32b	T	C	5: 37,617,001 (GRCm39)	D285G	probably benign	Het
Sult1b1	T	C	5: 87,662,815 (GRCm39)	D295G	probably benign	Het
Syt5	A	G	7: 4,544,831 (GRCm39)	L274P	probably damaging	Het
Tas1r2	T	C	4: 139,396,208 (GRCm39)	S545P	possibly damaging	Het
Tbc1d17	T	G	7: 44,490,696 (GRCm39)	D632A	probably damaging	Het
Tbc1d2	A	G	4: 46,650,007 (GRCm39)	S10P	probably benign	Het
Tlk1	A	T	2: 70,555,908 (GRCm39)	I417N	probably damaging	Het
Tmem184a	C	T	5: 139,791,984 (GRCm39)	R348H	possibly damaging	Het
Togaram2	T	A	17: 72,023,508 (GRCm39)	V808D	possibly damaging	Het
Tpr	A	G	1: 150,324,939 (GRCm39)	Q2397R	probably benign	Het
Trav7-4	A	G	14: 53,698,994 (GRCm39)	D47G	possibly damaging	Het
Usp17le	T	A	7: 104,419,814 (GRCm39)	M35L	probably benign	Het
Vegfc	C	T	8: 54,633,829 (GRCm39)	S262L	probably benign	Het
Vmn2r74	T	A	7: 85,605,212 (GRCm39)	I479L	possibly damaging	Het
Vps13a	A	T	19: 16,736,958 (GRCm39)	F126L	probably benign	Het
Zfp945	C	A	17: 23,070,582 (GRCm39)	C460F	possibly damaging	Het
Zmym4	G	T	4: 126,804,942 (GRCm39)	S439R	possibly damaging	Het
Zscan4-ps3	A	G	7: 11,344,093 (GRCm39)	E17G	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
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
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'- AGATCCTGTCCTTAACATGGGG -3'
(R):5'- CTTTTCTATAACAGCGCGCGG -3'

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

Posted On

2022-11-14