Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03410:Nrip1'

421760

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nrip1

Ensembl Gene

ENSMUSG00000048490

Gene Name

nuclear receptor interacting protein 1

Synonyms

RIP140, 6030458L20Rik, 8430438I05Rik

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03410

Quality Score

Status

Chromosome

Chromosomal Location

76287400-76373827 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 76292491 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 726 (N726S)

Ref Sequence

ENSEMBL: ENSMUSP00000112959 (fasta)

Gene Model

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

AlphaFold

Q8CBD1

Predicted Effect

probably benign
Transcript: ENSMUST00000054178
AA Change: N726S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000051726
Gene: ENSMUSG00000048490
AA Change: N726S

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
AA Change: N726S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000112959
Gene: ENSMUSG00000048490
AA Change: N726S

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

Coding Region Coverage

Validation Efficiency

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010I14Rik	T	A	17: 9,001,896	V409E	probably damaging	Het
1700086D15Rik	A	G	11: 65,152,567		probably benign	Het
Apba1	A	G	19: 23,937,581	N715S	possibly damaging	Het
Arfgef3	G	T	10: 18,600,490	A1527D	probably damaging	Het
Cmtm2a	G	T	8: 104,283,869	P133T	probably damaging	Het
Cyp2d9	T	C	15: 82,456,699	V483A	probably benign	Het
Dclre1b	T	A	3: 103,808,140	D14V	probably damaging	Het
Dock5	T	C	14: 67,846,086	I125V	probably benign	Het
Dok3	G	T	13: 55,524,231	Y211*	probably null	Het
Fat4	T	C	3: 38,891,176	V1406A	probably damaging	Het
Fbn2	A	G	18: 58,050,243	F1790S	possibly damaging	Het
Gm13083	C	A	4: 143,615,281	H93Q	probably benign	Het
Gm4787	A	T	12: 81,379,174	M70K	probably damaging	Het
Gulp1	A	T	1: 44,708,617	D10V	probably damaging	Het
Hagh	T	C	17: 24,860,942		probably benign	Het
Htt	A	G	5: 34,799,445	E206G	probably damaging	Het
Hyou1	A	G	9: 44,388,058	E682G	probably benign	Het
Igkv4-59	G	T	6: 69,438,466	A35E	probably damaging	Het
Krt78	A	G	15: 101,953,986	V80A	probably damaging	Het
Lars2	G	A	9: 123,418,776	A333T	possibly damaging	Het
Lrrc4	G	A	6: 28,830,516	R367W	probably damaging	Het
Med1	A	T	11: 98,189,183	M44K	possibly damaging	Het
Mep1a	T	A	17: 43,478,095		probably null	Het
Mmrn1	A	G	6: 60,975,835	I367V	probably benign	Het
Myo18a	T	C	11: 77,848,004	L1677P	probably damaging	Het
Neb	T	C	2: 52,319,705	T246A	probably benign	Het
Nkiras1	A	G	14: 18,280,073	R155G	probably benign	Het
Nyap2	A	G	1: 81,241,441	T393A	possibly damaging	Het
Olfr1029	T	A	2: 85,975,420	M59K	probably damaging	Het
Olfr1272	A	G	2: 90,282,213	Y121H	probably damaging	Het
Olfr32	G	A	2: 90,139,145		probably benign	Het
Oprm1	A	T	10: 6,830,051	I238F	probably damaging	Het
Pcnx2	T	A	8: 125,887,040	E557D	probably damaging	Het
Pole	A	G	5: 110,324,559	I1563V	probably benign	Het
Prdx3	T	G	19: 60,871,410		probably benign	Het
Rgsl1	C	T	1: 153,793,755	R295K	probably null	Het
Rhbdl2	T	A	4: 123,829,670	L289*	probably null	Het
Rnps1	A	G	17: 24,421,861		probably benign	Het
Rpgrip1	A	G	14: 52,158,366		probably benign	Het
Ryr2	A	T	13: 11,588,147	Y4518N	probably damaging	Het
Scyl3	A	G	1: 163,944,867	N296S	probably damaging	Het
Sipa1l3	G	A	7: 29,348,539	T1308M	probably damaging	Het
Slc39a9	A	G	12: 80,644,888	D3G	probably damaging	Het
Slc4a9	A	G	18: 36,529,687	E165G	probably benign	Het
Slc6a3	A	T	13: 73,538,657	I48F	probably benign	Het
Stxbp3	C	T	3: 108,802,160	C354Y	probably damaging	Het
Terb1	C	A	8: 104,473,042		probably benign	Het
Tfrc	G	A	16: 32,624,831		probably null	Het
Toporsl	A	C	4: 52,611,134	R342S	probably benign	Het
Ttc26	T	C	6: 38,385,500	L70P	probably damaging	Het
Ube2d3	T	A	3: 135,465,217	W141R	probably damaging	Het
Vps13b	G	T	15: 35,910,340	V3417L	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
PIT4802001:Nrip1	UTSW	16	76293269	missense	probably damaging	0.97
R0064:Nrip1	UTSW	16	76294670	utr 5 prime	probably benign
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
Z1177:Nrip1	UTSW	16	76293479	missense	probably damaging	1.00

Posted On

2016-08-02