Mutagenetix > Incidental Mutation

Incidental Mutation 'R0064:Nrip1'

98851

Institutional Source

Beutler Lab

Gene Symbol

Nrip1

Ensembl Gene

ENSMUSG00000048490

Gene Name

nuclear receptor interacting protein 1

Synonyms

RIP140, 6030458L20Rik, 8430438I05Rik

MMRRC Submission

038356-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0064 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

76287400-76373827 bp(-) (GRCm38)

Type of Mutation

utr 5 prime

DNA Base Change (assembly)

T to A at 76294670 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000156377 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000054178] [ENSMUST00000121927] [ENSMUST00000140483] [ENSMUST00000231585]

AlphaFold

Q8CBD1

Predicted Effect

probably benign
Transcript: ENSMUST00000054178

SMART Domains

Protein: ENSMUSP00000051726
Gene: ENSMUSG00000048490

Domain	Start	End	E-Value	Type
low complexity region	182	195	N/A	INTRINSIC
low complexity region	252	261	N/A	INTRINSIC
PDB:2GPP\|D	368	392	2e-7	PDB
low complexity region	707	718	N/A	INTRINSIC
low complexity region	719	731	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000121927

SMART Domains

Protein: ENSMUSP00000112959
Gene: ENSMUSG00000048490

Domain	Start	End	E-Value	Type
Pfam:NRIP1_repr_1	27	331	5.4e-141	PFAM
PDB:2GPP\|D	368	392	2e-7	PDB
Pfam:NRIP1_repr_2	412	739	7.5e-122	PFAM
Pfam:NRIP1_repr_3	754	841	8.4e-45	PFAM
Pfam:NRIP1_repr_4	849	1161	1.7e-157	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000140483

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231304

Predicted Effect

probably benign
Transcript: ENSMUST00000231585

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.1%
20x: 95.0%

Validation Efficiency

100% (55/55)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Nuclear receptor interacting protein 1 (NRIP1) is a nuclear protein that specifically interacts with the hormone-dependent activation domain AF2 of nuclear receptors. Also known as RIP140, this protein modulates transcriptional activity of the estrogen receptor. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygosity for targeted disruption of this gene results in female infertility due to ovulation failure. Heterozygous females are partially affected. Male and female mice are smaller than wild-type littermates. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	A	C	11: 110,144,871	L641R	probably damaging	Het
Abca9	G	T	11: 110,144,872	L641M	probably damaging	Het
Abhd18	A	G	3: 40,933,853	I377M	probably benign	Het
Arhgef17	C	A	7: 100,881,354	M1408I	probably benign	Het
Bcl2a1a	G	C	9: 88,957,463	G138A	probably damaging	Het
C4b	A	G	17: 34,738,856	L617P	probably damaging	Het
Ccdc25	T	A	14: 65,854,112	I60K	possibly damaging	Het
Cdk1	T	C	10: 69,345,077	D101G	probably benign	Het
Cdon	A	G	9: 35,489,227	H1079R	probably benign	Het
Cep126	A	T	9: 8,130,182		probably benign	Het
Cic	T	A	7: 25,287,140	S1299T	probably damaging	Het
Cic	C	A	7: 25,287,141	S1299Y	probably damaging	Het
Clstn1	G	A	4: 149,634,796	V361M	probably damaging	Het
Crlf3	A	G	11: 80,057,902	I239T	possibly damaging	Het
Cstf2t	T	A	19: 31,083,299	N78K	probably damaging	Het
Cul1	A	G	6: 47,502,415		probably benign	Het
D430041D05Rik	T	G	2: 104,249,157	T1194P	probably damaging	Het
Fbp2	A	T	13: 62,854,048	F118I	probably damaging	Het
Fbxw14	A	T	9: 109,287,592	Y16*	probably null	Het
Fgd3	T	G	13: 49,296,425	D116A	possibly damaging	Het
Gm7168	C	T	17: 13,949,859	T496I	probably benign	Het
Hsh2d	G	A	8: 72,200,460	D229N	probably benign	Het
Klhl5	T	A	5: 65,141,288	S137T	probably benign	Het
Knl1	T	A	2: 119,076,243	N1604K	probably benign	Het
Lpcat1	T	A	13: 73,514,466	N463K	probably damaging	Het
Lpl	A	G	8: 68,892,704	H120R	probably damaging	Het
Man1a2	A	T	3: 100,591,883	S412T	possibly damaging	Het
Mcc	C	G	18: 44,519,516		probably benign	Het
Myo18a	G	T	11: 77,847,344	R1704L	probably damaging	Het
Nlrc3	G	T	16: 3,964,087	T486K	possibly damaging	Het
Nutf2	A	G	8: 105,878,809	D92G	probably damaging	Het
Obscn	A	C	11: 59,027,466	V6260G	probably damaging	Het
Olfr320	G	A	11: 58,684,475	V201M	probably benign	Het
Olfr714	T	C	7: 107,074,280	F151L	probably benign	Het
Plce1	T	C	19: 38,780,784		probably null	Het
Pmpca	C	A	2: 26,395,507	D498E	probably benign	Het
Pnpla7	G	T	2: 24,997,227	E28*	probably null	Het
Polg	C	A	7: 79,461,884	W206C	probably damaging	Het
Ptprt	C	T	2: 161,927,791		probably benign	Het
Slc7a14	T	C	3: 31,227,060	D367G	probably damaging	Het
Spata31	T	C	13: 64,922,098	Y687H	probably damaging	Het
Sybu	T	A	15: 44,672,993	T646S	probably benign	Het
Thbs1	A	T	2: 118,123,914		probably null	Het
Tie1	A	G	4: 118,489,701	V2A	possibly damaging	Het
Tma16	A	T	8: 66,476,805	I179K	possibly damaging	Het
Tns3	G	A	11: 8,435,856	Q1381*	probably null	Het
Trank1	A	G	9: 111,343,195	D84G	probably damaging	Het
Ttc3	A	T	16: 94,422,247	H197L	possibly damaging	Het
Urb1	A	G	16: 90,779,140	F843L	probably benign	Het
Vmn1r24	T	G	6: 57,956,018	I172L	probably benign	Het
Vmn2r1	T	A	3: 64,104,788	I690N	possibly damaging	Het
Vmn2r111	T	A	17: 22,572,072	I82L	probably benign	Het
Zfp287	A	T	11: 62,714,938	L370H	possibly damaging	Het
Zfp608	A	T	18: 54,898,816	I684N	probably benign	Het

Other mutations in Nrip1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00496:Nrip1	APN	16	76293703	missense	possibly damaging	0.48
IGL00732:Nrip1	APN	16	76293061	missense	probably benign	0.31
IGL02024:Nrip1	APN	16	76291675	missense	probably benign	0.05
IGL02172:Nrip1	APN	16	76291492	missense	probably damaging	0.99
IGL02432:Nrip1	APN	16	76291780	missense	probably benign	0.04
IGL03025:Nrip1	APN	16	76294465	missense	probably benign	0.06
IGL03410:Nrip1	APN	16	76292491	missense	probably benign
PIT4802001:Nrip1	UTSW	16	76293269	missense	probably damaging	0.97
R0304:Nrip1	UTSW	16	76292707	missense	possibly damaging	0.67
R0320:Nrip1	UTSW	16	76292363	missense	probably benign	0.00
R0368:Nrip1	UTSW	16	76294016	missense	probably damaging	0.99
R1730:Nrip1	UTSW	16	76292890	missense	probably benign	0.42
R1783:Nrip1	UTSW	16	76292890	missense	probably benign	0.42
R1850:Nrip1	UTSW	16	76293344	missense	probably damaging	1.00
R1900:Nrip1	UTSW	16	76292039	missense	probably benign
R2252:Nrip1	UTSW	16	76291285	missense	probably damaging	1.00
R3935:Nrip1	UTSW	16	76294435	missense	possibly damaging	0.67
R4290:Nrip1	UTSW	16	76291988	missense	probably benign	0.00
R4426:Nrip1	UTSW	16	76291405	missense	possibly damaging	0.87
R4598:Nrip1	UTSW	16	76293080	missense	probably damaging	1.00
R4607:Nrip1	UTSW	16	76293032	missense	probably benign	0.00
R4608:Nrip1	UTSW	16	76293032	missense	probably benign	0.00
R5893:Nrip1	UTSW	16	76293953	missense	probably damaging	1.00
R5939:Nrip1	UTSW	16	76292122	missense	probably damaging	0.99
R5966:Nrip1	UTSW	16	76293583	missense	possibly damaging	0.47
R6093:Nrip1	UTSW	16	76294764	start gained	probably benign
R6154:Nrip1	UTSW	16	76293830	missense	probably damaging	1.00
R6639:Nrip1	UTSW	16	76293995	nonsense	probably null
R6910:Nrip1	UTSW	16	76294417	missense	probably damaging	1.00
R6921:Nrip1	UTSW	16	76292588	missense	possibly damaging	0.88
R7314:Nrip1	UTSW	16	76291190	missense	probably benign	0.00
R7346:Nrip1	UTSW	16	76293356	missense	possibly damaging	0.81
R7386:Nrip1	UTSW	16	76293887	missense	probably damaging	1.00
R7485:Nrip1	UTSW	16	76291450	missense	probably damaging	1.00
R7506:Nrip1	UTSW	16	76294459	missense	probably damaging	1.00
R7517:Nrip1	UTSW	16	76291184	makesense	probably null
R7657:Nrip1	UTSW	16	76294699	splice site	probably null
R7878:Nrip1	UTSW	16	76294666	start codon destroyed	probably null	0.99
R8068:Nrip1	UTSW	16	76292953	missense	possibly damaging	0.62
R8254:Nrip1	UTSW	16	76291399	missense	probably benign	0.02
R8261:Nrip1	UTSW	16	76292061	missense	possibly damaging	0.69
R8294:Nrip1	UTSW	16	76292530	missense	probably damaging	1.00
R8723:Nrip1	UTSW	16	76292665	missense	probably damaging	0.98
R8739:Nrip1	UTSW	16	76291348	missense	possibly damaging	0.51
R8956:Nrip1	UTSW	16	76292305	missense	probably benign	0.07
R8988:Nrip1	UTSW	16	76292014	missense	probably damaging	1.00
R9024:Nrip1	UTSW	16	76291500	nonsense	probably null
R9206:Nrip1	UTSW	16	76292728	missense	possibly damaging	0.93
R9208:Nrip1	UTSW	16	76292728	missense	possibly damaging	0.93
R9393:Nrip1	UTSW	16	76294465	missense	probably benign	0.06
R9476:Nrip1	UTSW	16	76292932	missense	probably benign	0.26
Z1177:Nrip1	UTSW	16	76293479	missense	probably damaging	1.00

Predicted Primers

Posted On

2014-01-10