Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00732:Nrip1'

12781

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nrip1

Ensembl Gene

ENSMUSG00000048490

Gene Name

nuclear receptor interacting protein 1

Synonyms

8430438I05Rik, 6030458L20Rik, RIP140

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00732

Quality Score

Status

Chromosome

Chromosomal Location

76084288-76170715 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 76089949 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 536 (T536I)

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: T536I

PolyPhen 2 Score 0.314 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000051726
Gene: ENSMUSG00000048490
AA Change: T536I

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: T536I

PolyPhen 2 Score 0.314 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000112959
Gene: ENSMUSG00000048490
AA Change: T536I

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: 8 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Crygd	C	T	1: 65,101,250 (GRCm39)	R115Q	probably benign	Het
Dnah8	A	G	17: 30,875,615 (GRCm39)	Y479C	probably damaging	Het
Jph1	A	G	1: 17,161,964 (GRCm39)	S233P	probably damaging	Het
Pik3c2a	G	A	7: 115,963,735 (GRCm39)	A925V	possibly damaging	Het
Prps2	A	T	X: 166,157,138 (GRCm39)	I56N	possibly damaging	Het
Sass6	G	A	3: 116,411,977 (GRCm39)	E312K	probably damaging	Het
Zfp1	G	A	8: 112,397,050 (GRCm39)	G324D	probably damaging	Het
Zfp282	C	T	6: 47,857,324 (GRCm39)	P186S	probably damaging	Het

Other mutations in Nrip1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00496:Nrip1	APN	16	76,090,591 (GRCm39)	missense	possibly damaging	0.48
IGL02024:Nrip1	APN	16	76,088,563 (GRCm39)	missense	probably benign	0.05
IGL02172:Nrip1	APN	16	76,088,380 (GRCm39)	missense	probably damaging	0.99
IGL02432:Nrip1	APN	16	76,088,668 (GRCm39)	missense	probably benign	0.04
IGL03025:Nrip1	APN	16	76,091,353 (GRCm39)	missense	probably benign	0.06
IGL03410:Nrip1	APN	16	76,089,379 (GRCm39)	missense	probably benign
PIT4802001:Nrip1	UTSW	16	76,090,157 (GRCm39)	missense	probably damaging	0.97
R0064:Nrip1	UTSW	16	76,091,558 (GRCm39)	utr 5 prime	probably benign
R0304:Nrip1	UTSW	16	76,089,595 (GRCm39)	missense	possibly damaging	0.67
R0320:Nrip1	UTSW	16	76,089,251 (GRCm39)	missense	probably benign	0.00
R0368:Nrip1	UTSW	16	76,090,904 (GRCm39)	missense	probably damaging	0.99
R1730:Nrip1	UTSW	16	76,089,778 (GRCm39)	missense	probably benign	0.42
R1783:Nrip1	UTSW	16	76,089,778 (GRCm39)	missense	probably benign	0.42
R1850:Nrip1	UTSW	16	76,090,232 (GRCm39)	missense	probably damaging	1.00
R1900:Nrip1	UTSW	16	76,088,927 (GRCm39)	missense	probably benign
R2252:Nrip1	UTSW	16	76,088,173 (GRCm39)	missense	probably damaging	1.00
R3935:Nrip1	UTSW	16	76,091,323 (GRCm39)	missense	possibly damaging	0.67
R4290:Nrip1	UTSW	16	76,088,876 (GRCm39)	missense	probably benign	0.00
R4426:Nrip1	UTSW	16	76,088,293 (GRCm39)	missense	possibly damaging	0.87
R4598:Nrip1	UTSW	16	76,089,968 (GRCm39)	missense	probably damaging	1.00
R4607:Nrip1	UTSW	16	76,089,920 (GRCm39)	missense	probably benign	0.00
R4608:Nrip1	UTSW	16	76,089,920 (GRCm39)	missense	probably benign	0.00
R5893:Nrip1	UTSW	16	76,090,841 (GRCm39)	missense	probably damaging	1.00
R5939:Nrip1	UTSW	16	76,089,010 (GRCm39)	missense	probably damaging	0.99
R5966:Nrip1	UTSW	16	76,090,471 (GRCm39)	missense	possibly damaging	0.47
R6093:Nrip1	UTSW	16	76,091,652 (GRCm39)	start gained	probably benign
R6154:Nrip1	UTSW	16	76,090,718 (GRCm39)	missense	probably damaging	1.00
R6639:Nrip1	UTSW	16	76,090,883 (GRCm39)	nonsense	probably null
R6910:Nrip1	UTSW	16	76,091,305 (GRCm39)	missense	probably damaging	1.00
R6921:Nrip1	UTSW	16	76,089,476 (GRCm39)	missense	possibly damaging	0.88
R7314:Nrip1	UTSW	16	76,088,078 (GRCm39)	missense	probably benign	0.00
R7346:Nrip1	UTSW	16	76,090,244 (GRCm39)	missense	possibly damaging	0.81
R7386:Nrip1	UTSW	16	76,090,775 (GRCm39)	missense	probably damaging	1.00
R7485:Nrip1	UTSW	16	76,088,338 (GRCm39)	missense	probably damaging	1.00
R7506:Nrip1	UTSW	16	76,091,347 (GRCm39)	missense	probably damaging	1.00
R7517:Nrip1	UTSW	16	76,088,072 (GRCm39)	makesense	probably null
R7657:Nrip1	UTSW	16	76,091,587 (GRCm39)	splice site	probably null
R7878:Nrip1	UTSW	16	76,091,554 (GRCm39)	start codon destroyed	probably null	0.99
R8068:Nrip1	UTSW	16	76,089,841 (GRCm39)	missense	possibly damaging	0.62
R8254:Nrip1	UTSW	16	76,088,287 (GRCm39)	missense	probably benign	0.02
R8261:Nrip1	UTSW	16	76,088,949 (GRCm39)	missense	possibly damaging	0.69
R8294:Nrip1	UTSW	16	76,089,418 (GRCm39)	missense	probably damaging	1.00
R8723:Nrip1	UTSW	16	76,089,553 (GRCm39)	missense	probably damaging	0.98
R8739:Nrip1	UTSW	16	76,088,236 (GRCm39)	missense	possibly damaging	0.51
R8956:Nrip1	UTSW	16	76,089,193 (GRCm39)	missense	probably benign	0.07
R8988:Nrip1	UTSW	16	76,088,902 (GRCm39)	missense	probably damaging	1.00
R9024:Nrip1	UTSW	16	76,088,388 (GRCm39)	nonsense	probably null
R9206:Nrip1	UTSW	16	76,089,616 (GRCm39)	missense	possibly damaging	0.93
R9208:Nrip1	UTSW	16	76,089,616 (GRCm39)	missense	possibly damaging	0.93
R9393:Nrip1	UTSW	16	76,091,353 (GRCm39)	missense	probably benign	0.06
R9476:Nrip1	UTSW	16	76,089,820 (GRCm39)	missense	probably benign	0.26
Z1177:Nrip1	UTSW	16	76,090,367 (GRCm39)	missense	probably damaging	1.00

Posted On

2012-12-06