Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02947:Wrnip1'

364803

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Wrnip1

Ensembl Gene

ENSMUSG00000021400

Gene Name

Werner helicase interacting protein 1

Synonyms

4833444L21Rik, WHIP

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02947

Quality Score

Status

Chromosome

Chromosomal Location

32986021-33006592 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 33006053 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 632 (Y632N)

Ref Sequence

ENSEMBL: ENSMUSP00000021832 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021832]

AlphaFold

Q91XU0

Predicted Effect

probably damaging
Transcript: ENSMUST00000021832
AA Change: Y632N

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

SMART Domains

Protein: ENSMUSP00000021832
Gene: ENSMUSG00000021400
AA Change: Y632N

Domain	Start	End	E-Value	Type
ZnF_Rad18	17	40	4.76e-10	SMART
low complexity region	90	110	N/A	INTRINSIC
low complexity region	135	156	N/A	INTRINSIC
low complexity region	158	183	N/A	INTRINSIC
AAA	255	375	9.86e-16	SMART
Pfam:AAA_assoc_2	413	506	6.4e-26	PFAM
Pfam:MgsA_C	507	659	3.9e-61	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220560

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221066

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230949

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Werner's syndrome is a rare autosomal recessive disorder characterized by accelerated aging that is caused by defects in the Werner syndrome ATP-dependent helicase gene (WRN). The protein encoded by this gene interacts with the exonuclease-containing N-terminal portion of the Werner protein. This protein has a ubiquitin-binding zinc-finger domain in the N-terminus, an ATPase domain, and two leucine zipper motifs in the C-terminus. It has sequence similarity to replication factor C family proteins and is conserved from E. coli to human. This protein likely accumulates at sites of DNA damage by interacting with polyubiquinated proteins and also binds to DNA polymerase delta and increases the initiation frequency of DNA polymerase delta-mediated DNA synthesis. This protein also interacts with nucleoporins at nuclear pore complexes. Two transcript variants encoding different isoforms have been isolated for this gene. [provided by RefSeq, Jul 2012]

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	A	G	5: 77,049,957 (GRCm39)	V13A	probably benign	Het
Atp8b5	T	A	4: 43,305,774 (GRCm39)	I106K	possibly damaging	Het
Cdh15	T	C	8: 123,592,111 (GRCm39)	S633P	probably benign	Het
Celsr3	A	G	9: 108,723,134 (GRCm39)	T228A	probably benign	Het
Cfap90	T	A	13: 68,759,312 (GRCm39)	F95L	probably benign	Het
Chrng	A	G	1: 87,137,606 (GRCm39)		probably null	Het
Coprs	T	C	8: 13,935,782 (GRCm39)	E79G	probably damaging	Het
Cpb2	A	C	14: 75,520,758 (GRCm39)	Y391S	probably damaging	Het
Cyp2j8	A	T	4: 96,358,815 (GRCm39)	I368N	probably damaging	Het
Ddah1	T	C	3: 145,464,842 (GRCm39)	F76L	probably benign	Het
Eif2ak4	A	G	2: 118,261,514 (GRCm39)	T573A	probably benign	Het
Exoc6b	T	A	6: 84,835,411 (GRCm39)	M375L	probably benign	Het
Fasn	T	C	11: 120,706,502 (GRCm39)	E994G	probably damaging	Het
Fem1a	T	A	17: 56,565,640 (GRCm39)	C578S	probably benign	Het
Garnl3	A	G	2: 32,936,606 (GRCm39)	S188P	probably damaging	Het
Gpn3	T	C	5: 122,516,551 (GRCm39)	V60A	possibly damaging	Het
Hnrnpr	A	G	4: 136,043,690 (GRCm39)	D59G	probably damaging	Het
Hydin	A	T	8: 111,145,094 (GRCm39)	E815V	probably damaging	Het
Itga9	C	T	9: 118,487,601 (GRCm39)	T228M	probably damaging	Het
Kpna7	T	C	5: 144,930,884 (GRCm39)	I320M	probably damaging	Het
Lnpep	T	C	17: 17,791,234 (GRCm39)	T437A	probably damaging	Het
Ltf	C	T	9: 110,868,015 (GRCm39)	T48I	probably benign	Het
Masp1	T	G	16: 23,313,476 (GRCm39)	D153A	probably damaging	Het
Mcpt9	T	A	14: 56,264,373 (GRCm39)	R241*	probably null	Het
Msantd4	T	A	9: 4,384,787 (GRCm39)	S171T	probably damaging	Het
Nos1	G	A	5: 118,081,382 (GRCm39)	V1229M	probably damaging	Het
Npc1l1	A	G	11: 6,179,246 (GRCm39)	S55P	probably benign	Het
Oc90	T	C	15: 65,759,983 (GRCm39)	K212R	probably benign	Het
Or2a12	A	G	6: 42,904,830 (GRCm39)	I222V	probably benign	Het
Or5t15	C	T	2: 86,681,130 (GRCm39)	R304K	probably benign	Het
Or6c202	C	A	10: 128,996,439 (GRCm39)	C138F	probably damaging	Het
Prr12	T	A	7: 44,697,980 (GRCm39)	Q645L	unknown	Het
Psmd9	A	G	5: 123,384,278 (GRCm39)	I145V	probably benign	Het
Rbks	T	C	5: 31,817,407 (GRCm39)	I121V	probably benign	Het
Rnase2b	A	T	14: 51,400,264 (GRCm39)	Y115F	probably damaging	Het
Sarnp	A	G	10: 128,675,723 (GRCm39)	E78G	probably benign	Het
Sltm	A	G	9: 70,498,946 (GRCm39)	S1007G	probably benign	Het
Spata31d1c	T	A	13: 65,182,759 (GRCm39)	Y100*	probably null	Het
Srrm2	T	C	17: 24,029,720 (GRCm39)	S222P	probably benign	Het
Sult3a1	G	A	10: 33,740,046 (GRCm39)	R35Q	possibly damaging	Het
Tfap4	T	C	16: 4,369,224 (GRCm39)	D132G	probably damaging	Het
Tmem53	C	T	4: 117,125,285 (GRCm39)	Q111*	probably null	Het
Togaram1	T	A	12: 65,068,274 (GRCm39)	V1709D	probably damaging	Het
Trpm3	A	T	19: 22,878,483 (GRCm39)	D628V	probably damaging	Het
Ttn	T	A	2: 76,544,838 (GRCm39)	K31009*	probably null	Het
Vldlr	A	G	19: 27,217,120 (GRCm39)	I58V	probably benign	Het
Vmn1r4	T	C	6: 56,934,231 (GRCm39)	F245S	probably benign	Het
Vrtn	T	A	12: 84,695,258 (GRCm39)	S3T	probably damaging	Het
Vwa7	A	G	17: 35,242,476 (GRCm39)		probably null	Het

Other mutations in Wrnip1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00089:Wrnip1	APN	13	33,000,312 (GRCm39)	missense	probably damaging	1.00
IGL02608:Wrnip1	APN	13	32,990,857 (GRCm39)	missense	probably damaging	1.00
R0028:Wrnip1	UTSW	13	33,004,280 (GRCm39)	missense	probably damaging	1.00
R0131:Wrnip1	UTSW	13	32,990,847 (GRCm39)	missense	probably damaging	0.98
R0212:Wrnip1	UTSW	13	33,005,889 (GRCm39)	missense	probably benign	0.45
R0545:Wrnip1	UTSW	13	32,990,796 (GRCm39)	missense	probably damaging	1.00
R0638:Wrnip1	UTSW	13	33,005,073 (GRCm39)	missense	possibly damaging	0.82
R1650:Wrnip1	UTSW	13	32,989,362 (GRCm39)	missense	probably benign	0.02
R1894:Wrnip1	UTSW	13	32,989,319 (GRCm39)	critical splice acceptor site	probably null
R2176:Wrnip1	UTSW	13	33,004,223 (GRCm39)	missense	probably damaging	1.00
R2371:Wrnip1	UTSW	13	32,986,410 (GRCm39)	missense	probably benign
R2475:Wrnip1	UTSW	13	32,990,941 (GRCm39)	missense	probably benign	0.30
R3122:Wrnip1	UTSW	13	32,986,744 (GRCm39)	missense	probably benign	0.06
R4247:Wrnip1	UTSW	13	32,990,866 (GRCm39)	missense	probably damaging	1.00
R4604:Wrnip1	UTSW	13	32,986,330 (GRCm39)	missense	probably damaging	1.00
R4978:Wrnip1	UTSW	13	33,000,295 (GRCm39)	missense	probably damaging	1.00
R5109:Wrnip1	UTSW	13	33,000,319 (GRCm39)	missense	probably damaging	1.00
R5148:Wrnip1	UTSW	13	32,990,839 (GRCm39)	missense	probably damaging	1.00
R5929:Wrnip1	UTSW	13	32,990,949 (GRCm39)	missense	probably damaging	1.00
R6750:Wrnip1	UTSW	13	32,986,739 (GRCm39)	missense	probably damaging	0.99
R7137:Wrnip1	UTSW	13	32,986,732 (GRCm39)	missense	probably benign	0.01
R7142:Wrnip1	UTSW	13	32,986,616 (GRCm39)	missense	possibly damaging	0.51
R7378:Wrnip1	UTSW	13	33,000,264 (GRCm39)	missense	probably benign	0.33
R7468:Wrnip1	UTSW	13	33,000,360 (GRCm39)	missense	possibly damaging	0.80
R7470:Wrnip1	UTSW	13	33,000,310 (GRCm39)	nonsense	probably null
R8049:Wrnip1	UTSW	13	33,005,960 (GRCm39)	missense	probably benign
R8260:Wrnip1	UTSW	13	32,989,339 (GRCm39)	missense	possibly damaging	0.80
R9000:Wrnip1	UTSW	13	32,986,711 (GRCm39)	missense	probably damaging	0.99
X0019:Wrnip1	UTSW	13	32,990,749 (GRCm39)	missense	probably damaging	1.00
X0027:Wrnip1	UTSW	13	32,986,707 (GRCm39)	unclassified	probably benign

Posted On

2015-12-18