Mutagenetix > Incidental Mutation

Incidental Mutation 'R3177:Nr1h4'

476056

Institutional Source

Beutler Lab

Gene Symbol

Nr1h4

Ensembl Gene

ENSMUSG00000047638

Gene Name

nuclear receptor subfamily 1, group H, member 4

Synonyms

Rxrip14, FXR, HRR1, Fxr, RIP14

MMRRC Submission

040615-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.839) question?

Stock #

R3177 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

89454234-89533585 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 89478788 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 282 (T282I)

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: T282I

PolyPhen 2 Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000053092
Gene: ENSMUSG00000047638
AA Change: T282I

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: T286I

PolyPhen 2 Score 0.372 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000100933
Gene: ENSMUSG00000047638
AA Change: T286I

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: T272I

PolyPhen 2 Score 0.183 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000100934
Gene: ENSMUSG00000047638
AA Change: T272I

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: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.4%

Validation Efficiency

100% (21/21)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921509C19Rik	T	C	2: 151,472,100	R553G	possibly damaging	Het
Adarb2	A	G	13: 8,752,627	N646S	probably damaging	Het
Adcy8	C	T	15: 64,699,159	G1242S	probably benign	Het
Ano9	T	A	7: 141,104,124	T543S	probably damaging	Het
Btnl10	A	G	11: 58,922,390	K282E	probably benign	Het
Btnl9	T	C	11: 49,169,676	D330G	probably damaging	Het
Ccdc178	G	T	18: 22,067,652	A416E	possibly damaging	Het
Cdx2	A	T	5: 147,303,192	S225T	probably benign	Het
Clca4b	T	C	3: 144,911,359	I843M	probably benign	Het
Cntn4	G	A	6: 106,437,964		probably null	Het
Cyb561	T	C	11: 105,935,787		probably benign	Het
Cyp4f18	T	C	8: 71,993,200	D317G	possibly damaging	Het
Dennd4a	G	T	9: 64,888,993	R767L	probably damaging	Het
Dgkb	G	A	12: 38,084,217	V41M	probably damaging	Het
Duox1	T	C	2: 122,340,116	Y1206H	probably damaging	Het
Dync1i1	T	C	6: 5,972,211		probably null	Het
Fbxw2	T	C	2: 34,822,750	T100A	probably benign	Het
Fcgbp	C	A	7: 28,091,661	H782Q	probably damaging	Het
Flg2	A	T	3: 93,214,888	Q1455L	unknown	Het
Frrs1	T	C	3: 116,899,224	F49S	probably damaging	Het
Gli3	A	T	13: 15,725,982	Q1318L	probably benign	Het
Gm5581	C	G	6: 131,166,965		noncoding transcript	Het
Gm5592	A	G	7: 41,288,380	E362G	probably benign	Het
Gm7104	A	T	12: 88,285,728		noncoding transcript	Het
Gpatch2l	A	G	12: 86,244,315	T91A	possibly damaging	Het
Hacd4	T	C	4: 88,437,510	H46R	probably damaging	Het
Hao2	T	C	3: 98,880,328		probably benign	Het
Herc2	T	C	7: 56,153,428	V2175A	probably benign	Het
Hey1	T	C	3: 8,664,891	S169G	probably benign	Het
Hivep2	C	A	10: 14,128,969	T437K	probably benign	Het
Hlf	T	C	11: 90,345,835	K199E	probably damaging	Het
Hpgd	C	A	8: 56,298,413	A92E	probably damaging	Het
Hsp90aa1	T	A	12: 110,695,680	M1L	possibly damaging	Het
Hsp90aa1	C	A	12: 110,695,681		probably null	Het
Itgad	C	A	7: 128,190,981	H651N	possibly damaging	Het
Itgav	A	G	2: 83,776,542	D409G	probably damaging	Het
Kif2a	A	G	13: 106,976,756	I455T	probably damaging	Het
Klk14	G	A	7: 43,692,077	C51Y	probably damaging	Het
Lamc3	G	T	2: 31,908,625	G448C	probably damaging	Het
Ltbp1	G	A	17: 75,276,480	G425D	possibly damaging	Het
Ltbp1	T	A	17: 75,359,278		probably null	Het
Mag	C	T	7: 30,901,648		probably null	Het
Mdh1b	G	A	1: 63,711,531	T426M	possibly damaging	Het
Nsf	C	T	11: 103,930,752	E26K	possibly damaging	Het
Olfr1231	C	T	2: 89,303,218	V125M	possibly damaging	Het
Olfr1412	A	G	1: 92,588,813	N161S	probably benign	Het
Olfr552	T	C	7: 102,604,576	V74A	possibly damaging	Het
Padi6	A	G	4: 140,735,389	L307P	probably damaging	Het
Parp9	T	C	16: 35,948,208	S20P	probably damaging	Het
Pdcd11	T	C	19: 47,113,264	F963L	probably damaging	Het
Pwp1	C	T	10: 85,882,079	L294F	probably benign	Het
Radil	A	G	5: 142,506,856	L339P	probably damaging	Het
Raver1	G	A	9: 21,079,277	P316S	possibly damaging	Het
Rell1	A	G	5: 63,926,987		probably null	Het
Rxrg	A	G	1: 167,635,700	D257G	possibly damaging	Het
Sema4c	C	T	1: 36,549,879	R722H	possibly damaging	Het
Sgk1	C	T	10: 21,996,601	R171W	probably damaging	Het
Spata7	A	G	12: 98,637,598	N75D	possibly damaging	Het
Ttc23l	A	G	15: 10,547,232	F99L	possibly damaging	Het
Unc13a	A	C	8: 71,629,695	C1642G	probably benign	Het
Usp36	C	T	11: 118,276,759		probably null	Het
Wrn	A	G	8: 33,317,554	M292T	probably damaging	Het
Zfp423	A	G	8: 87,782,331	Y462H	probably damaging	Het
Zscan5b	T	A	7: 6,231,346	Y124N	possibly damaging	Het
Zswim9	T	C	7: 13,277,270	T51A	possibly damaging	Het

Other mutations in Nr1h4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01701:Nr1h4	APN	10	89478807	missense	probably benign	0.42
IGL02628:Nr1h4	APN	10	89473839	missense	probably damaging	1.00
Aeronaut	UTSW	10	89498229	nonsense	probably null
I1329:Nr1h4	UTSW	10	89483362	splice site	probably benign
IGL02837:Nr1h4	UTSW	10	89516480	missense	probably benign	0.00
R0590:Nr1h4	UTSW	10	89456567	missense	probably damaging	0.99
R0645:Nr1h4	UTSW	10	89506528	missense	probably benign	0.08
R1887:Nr1h4	UTSW	10	89454867	missense	possibly damaging	0.64
R1905:Nr1h4	UTSW	10	89480559	missense	possibly damaging	0.85
R2471:Nr1h4	UTSW	10	89473894	missense	probably damaging	1.00
R2921:Nr1h4	UTSW	10	89498361	missense	probably damaging	1.00
R3277:Nr1h4	UTSW	10	89478788	missense	possibly damaging	0.89
R4656:Nr1h4	UTSW	10	89498253	missense	probably benign	0.00
R4676:Nr1h4	UTSW	10	89473874	missense	probably damaging	1.00
R4901:Nr1h4	UTSW	10	89478797	missense	possibly damaging	0.68
R4993:Nr1h4	UTSW	10	89498180	missense	probably benign	0.01
R5117:Nr1h4	UTSW	10	89478422	missense	probably damaging	1.00
R5131:Nr1h4	UTSW	10	89483455	missense	probably damaging	0.99
R5176:Nr1h4	UTSW	10	89498255	missense	probably benign	0.02
R5241:Nr1h4	UTSW	10	89483489	missense	probably damaging	1.00
R5580:Nr1h4	UTSW	10	89516440	missense	probably benign	0.16
R6114:Nr1h4	UTSW	10	89478816	missense	possibly damaging	0.61
R6814:Nr1h4	UTSW	10	89454745	missense	probably damaging	0.98
R6888:Nr1h4	UTSW	10	89456542	missense	probably damaging	1.00
R6990:Nr1h4	UTSW	10	89454930	missense	probably benign	0.18
R7141:Nr1h4	UTSW	10	89498229	nonsense	probably null
R7427:Nr1h4	UTSW	10	89498405	missense	probably benign	0.00
R7428:Nr1h4	UTSW	10	89498405	missense	probably benign	0.00
R7560:Nr1h4	UTSW	10	89498261	missense	probably benign
R7986:Nr1h4	UTSW	10	89454772	missense	possibly damaging	0.46
R8881:Nr1h4	UTSW	10	89483489	missense	probably damaging	1.00
R9365:Nr1h4	UTSW	10	89483453	missense	probably damaging	0.96
R9423:Nr1h4	UTSW	10	89473826	missense	possibly damaging	0.81
R9659:Nr1h4	UTSW	10	89478776	critical splice donor site	probably null
R9776:Nr1h4	UTSW	10	89483449	missense	probably damaging	1.00
R9788:Nr1h4	UTSW	10	89478776	critical splice donor site	probably null
R9792:Nr1h4	UTSW	10	89478789	missense	probably benign	0.02
R9795:Nr1h4	UTSW	10	89478789	missense	probably benign	0.02
R9800:Nr1h4	UTSW	10	89454756	missense	probably benign	0.03
X0023:Nr1h4	UTSW	10	89454844	missense	possibly damaging	0.45
Z1176:Nr1h4	UTSW	10	89498350	nonsense	probably null

Predicted Primers

Posted On

2017-05-11