Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00089:Wrnip1'

1037

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 #

IGL00089

Quality Score

Status

Chromosome

Chromosomal Location

32986021-33006592 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 33000312 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 440 (N440D)

Ref Sequence

ENSEMBL: ENSMUSP00000021832 (fasta)

Gene Model

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

AlphaFold

Q91XU0

Predicted Effect

probably damaging
Transcript: ENSMUST00000021832
AA Change: N440D

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

SMART Domains

Protein: ENSMUSP00000021832
Gene: ENSMUSG00000021400
AA Change: N440D

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

probably benign
Transcript: ENSMUST00000229351

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A430033K04Rik	T	C	5: 138,645,854 (GRCm39)	S580P	probably damaging	Het
Abca12	T	A	1: 71,342,700 (GRCm39)	I927F	possibly damaging	Het
Abca8a	A	G	11: 109,941,765 (GRCm39)	V1168A	possibly damaging	Het
Abcc1	T	A	16: 14,278,847 (GRCm39)	N1052K	probably benign	Het
Adamts13	C	A	2: 26,895,373 (GRCm39)	Q1155K	probably benign	Het
Adgre4	A	T	17: 56,098,915 (GRCm39)		probably benign	Het
Ahsa2	T	C	11: 23,446,837 (GRCm39)	E42G	probably damaging	Het
Ankk1	T	G	9: 49,333,200 (GRCm39)	I95L	probably benign	Het
Anpep	A	T	7: 79,491,734 (GRCm39)	L89Q	probably damaging	Het
Arl5a	T	C	2: 52,306,083 (GRCm39)	N83S	probably benign	Het
Atp11b	A	G	3: 35,863,525 (GRCm39)		probably null	Het
Atp6v0a2	T	C	5: 124,798,841 (GRCm39)	F849L	probably benign	Het
BC106179	A	G	16: 23,043,022 (GRCm39)		probably benign	Het
Bcl2a1c	T	C	9: 114,159,608 (GRCm39)	*129Q	probably null	Het
C2cd5	T	C	6: 142,963,671 (GRCm39)	I888V	probably null	Het
Calb2	A	T	8: 110,872,303 (GRCm39)	L227Q	probably damaging	Het
Ccp110	G	T	7: 118,321,647 (GRCm39)	C434F	possibly damaging	Het
Cd209c	A	T	8: 3,990,339 (GRCm39)	C160S	probably damaging	Het
Chmp1a	A	G	8: 123,935,758 (GRCm39)		probably null	Het
Col6a6	T	A	9: 105,635,390 (GRCm39)		probably null	Het
Cyld	T	A	8: 89,432,085 (GRCm39)	C28S	probably benign	Het
Dapk1	A	T	13: 60,908,854 (GRCm39)	I1156F	probably benign	Het
Dennd1a	A	T	2: 38,133,454 (GRCm39)	Y16*	probably null	Het
Dennd3	T	G	15: 73,438,982 (GRCm39)	S1117A	probably benign	Het
Dgka	A	T	10: 128,568,955 (GRCm39)	D203E	probably damaging	Het
Dhx15	G	T	5: 52,324,117 (GRCm39)	L392I	probably damaging	Het
Dnah10	A	G	5: 124,823,680 (GRCm39)	D567G	probably benign	Het
Eaf1	T	A	14: 31,226,483 (GRCm39)		probably null	Het
Efnb2	T	C	8: 8,710,589 (GRCm39)	D9G	probably benign	Het
Fcrla	A	T	1: 170,755,067 (GRCm39)	C15S	probably benign	Het
Flt3	T	C	5: 147,291,686 (GRCm39)	N588S	probably damaging	Het
Garre1	A	T	7: 33,945,412 (GRCm39)		probably benign	Het
Gm10146	A	T	10: 78,229,307 (GRCm39)		noncoding transcript	Het
Gnpat	T	C	8: 125,603,653 (GRCm39)		probably benign	Het
Golm2	T	C	2: 121,741,274 (GRCm39)		probably benign	Het
Gpr39	A	C	1: 125,800,468 (GRCm39)	R406S	probably benign	Het
H2-Aa	T	C	17: 34,503,504 (GRCm39)	H31R	probably damaging	Het
Helz2	G	T	2: 180,871,495 (GRCm39)	R2706S	probably damaging	Het
Hip1r	T	A	5: 124,127,798 (GRCm39)		probably null	Het
Hnf4g	A	G	3: 3,713,142 (GRCm39)	T239A	probably benign	Het
Hps5	A	T	7: 46,425,362 (GRCm39)	I413N	probably damaging	Het
Hspg2	G	A	4: 137,256,131 (GRCm39)	G1413R	probably damaging	Het
Itgax	T	G	7: 127,734,498 (GRCm39)	M352R	probably damaging	Het
Katna1	T	A	10: 7,638,568 (GRCm39)	M433K	probably damaging	Het
Kcna4	T	G	2: 107,126,207 (GRCm39)	S314A	probably damaging	Het
Kif13b	C	T	14: 64,907,142 (GRCm39)	T42I	possibly damaging	Het
Krt78	G	A	15: 101,855,945 (GRCm39)	T622I	probably benign	Het
Krt86	T	A	15: 101,374,396 (GRCm39)	M263K	possibly damaging	Het
Lap3	A	G	5: 45,663,511 (GRCm39)		probably benign	Het
Lepr	A	T	4: 101,672,232 (GRCm39)	R1085S	probably benign	Het
Lmcd1	A	G	6: 112,306,769 (GRCm39)	I314V	probably benign	Het
Luc7l2	T	C	6: 38,585,105 (GRCm39)		probably benign	Het
Mcm2	T	A	6: 88,870,383 (GRCm39)	M117L	probably benign	Het
Mdh2	T	C	5: 135,815,138 (GRCm39)	Y133H	probably damaging	Het
Minar1	C	T	9: 89,483,853 (GRCm39)	V515I	probably benign	Het
Mlkl	T	A	8: 112,046,060 (GRCm39)	R317*	probably null	Het
Mrps34	T	C	17: 25,114,344 (GRCm39)	L68P	probably damaging	Het
Muc4	G	A	16: 32,754,086 (GRCm38)	G1321R	probably benign	Het
Myo18a	A	G	11: 77,738,764 (GRCm39)	E1299G	probably damaging	Het
Nlrp14	T	C	7: 106,791,709 (GRCm39)	L139P	possibly damaging	Het
Nudcd2	A	G	11: 40,627,413 (GRCm39)	D86G	probably damaging	Het
Or10u4	T	A	10: 129,801,673 (GRCm39)	R293W	probably damaging	Het
Or4c107	T	A	2: 88,789,110 (GRCm39)	I100N	probably damaging	Het
Or4f62	A	T	2: 111,986,412 (GRCm39)	M39L	probably benign	Het
Patj	T	C	4: 98,353,343 (GRCm39)	F629L	probably damaging	Het
Rad23a	A	G	8: 85,562,524 (GRCm39)	F280L	probably damaging	Het
Ralgapa1	C	A	12: 55,769,558 (GRCm39)	G811V	probably damaging	Het
St18	A	G	1: 6,872,796 (GRCm39)	D177G	probably benign	Het
Sult1c2	A	C	17: 54,140,147 (GRCm39)	Y159*	probably null	Het
Surf6	T	A	2: 26,783,081 (GRCm39)		probably null	Het
Susd6	T	G	12: 80,916,841 (GRCm39)		probably benign	Het
Sypl2	G	A	3: 108,133,742 (GRCm39)		probably benign	Het
Ubr5	A	T	15: 37,984,280 (GRCm39)	F2289Y	probably damaging	Het
Vcl	T	C	14: 21,037,071 (GRCm39)	I223T	probably benign	Het
Vmn1r234	C	T	17: 21,449,860 (GRCm39)	T258I	possibly damaging	Het
Vmn2r58	T	A	7: 41,513,854 (GRCm39)	K263M	possibly damaging	Het
Vmo1	A	T	11: 70,404,424 (GRCm39)	N192K	probably damaging	Het
Zc3h4	T	C	7: 16,156,159 (GRCm39)	Y264H	unknown	Het
Zfp639	T	G	3: 32,573,902 (GRCm39)		probably null	Het
Zfp831	T	C	2: 174,488,078 (GRCm39)	Y918H	possibly damaging	Het

Other mutations in Wrnip1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02608:Wrnip1	APN	13	32,990,857 (GRCm39)	missense	probably damaging	1.00
IGL02947:Wrnip1	APN	13	33,006,053 (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

2011-07-12