Mutagenetix > Incidental Mutation

Incidental Mutation 'R0131:Wrnip1'

21655

Institutional Source

Beutler Lab

Gene Symbol

Wrnip1

Ensembl Gene

ENSMUSG00000021400

Gene Name

Werner helicase interacting protein 1

Synonyms

4833444L21Rik, WHIP

MMRRC Submission

038416-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0131 (G1)

Quality Score

194

Status

Validated (trace)

Chromosome

Chromosomal Location

32986021-33006592 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 32990847 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 369 (V369I)

Ref Sequence

ENSEMBL: ENSMUSP00000021832 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021832] [ENSMUST00000057911]

AlphaFold

Q91XU0

Predicted Effect

probably damaging
Transcript: ENSMUST00000021832
AA Change: V369I

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000021832
Gene: ENSMUSG00000021400
AA Change: V369I

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

probably benign
Transcript: ENSMUST00000057911

SMART Domains

Protein: ENSMUSP00000050235
Gene: ENSMUSG00000042874

Domain	Start	End	E-Value	Type
low complexity region	10	23	N/A	INTRINSIC
low complexity region	37	46	N/A	INTRINSIC
low complexity region	49	59	N/A	INTRINSIC
transmembrane domain	93	115	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220560

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221066

Predicted Effect

probably benign
Transcript: ENSMUST00000229351

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 98.8%
3x: 97.2%
10x: 90.2%
20x: 71.5%

Validation Efficiency

87% (52/60)

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: 101 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	T	A	11: 109,833,115 (GRCm39)	Q1195L	possibly damaging	Het
Abcc12	A	G	8: 87,258,197 (GRCm39)	I773T	probably benign	Het
Adamtsl1	T	A	4: 86,260,960 (GRCm39)	I1057N	possibly damaging	Het
Adgrv1	A	T	13: 81,651,114 (GRCm39)		probably benign	Het
Anxa5	G	A	3: 36,504,821 (GRCm39)	A247V	probably damaging	Het
Ascc3	T	G	10: 50,611,425 (GRCm39)	W1589G	probably damaging	Het
Atp2b2	G	A	6: 113,770,743 (GRCm39)	P389S	probably damaging	Het
Bicd1	A	G	6: 149,414,445 (GRCm39)	E386G	probably damaging	Het
Bmal2	C	A	6: 146,729,601 (GRCm39)	H471N	probably benign	Het
Bpifa6	T	A	2: 153,824,851 (GRCm39)	S9T	probably benign	Het
Cacna1c	T	C	6: 118,602,473 (GRCm39)	I1428V	probably damaging	Het
Cfhr4	T	A	1: 139,682,009 (GRCm39)	T196S	probably damaging	Het
Chd8	A	G	14: 52,442,783 (GRCm39)	V589A	probably benign	Het
Chrnb2	T	C	3: 89,671,713 (GRCm39)	M1V	probably null	Het
Cldnd1	T	C	16: 58,553,355 (GRCm39)	L232P	probably damaging	Het
Col16a1	T	A	4: 129,960,889 (GRCm39)	V449E	unknown	Het
Col3a1	T	A	1: 45,368,028 (GRCm39)		probably benign	Het
Cttnbp2nl	T	G	3: 104,913,173 (GRCm39)	K237T	probably damaging	Het
Cyc1	G	A	15: 76,229,159 (GRCm39)	V142I	probably benign	Het
Dapk3	A	G	10: 81,028,141 (GRCm39)	T265A	probably benign	Het
Ddx21	A	T	10: 62,420,531 (GRCm39)	M711K	possibly damaging	Het
Dlg5	A	T	14: 24,188,717 (GRCm39)	L1735Q	probably damaging	Het
Dse	A	G	10: 34,029,660 (GRCm39)	Y341H	probably damaging	Het
Elmod2	A	G	8: 84,046,133 (GRCm39)	I148T	probably damaging	Het
Fam187b	T	A	7: 30,688,545 (GRCm39)	V22E	probably damaging	Het
Faxc	A	G	4: 21,936,659 (GRCm39)	D98G	probably damaging	Het
Fcgbpl1	A	G	7: 27,837,040 (GRCm39)	R320G	probably damaging	Het
Fcrl2	A	G	3: 87,166,266 (GRCm39)	S170P	possibly damaging	Het
Fsip2	G	A	2: 82,821,465 (GRCm39)	D5733N	probably benign	Het
Gbe1	T	C	16: 70,157,740 (GRCm39)		probably benign	Het
Gm6327	T	C	16: 12,578,909 (GRCm39)		noncoding transcript	Het
H2-T24	T	A	17: 36,325,878 (GRCm39)	I238F	probably damaging	Het
Hectd4	A	G	5: 121,471,087 (GRCm39)	E2658G	probably benign	Het
Herc1	A	C	9: 66,388,192 (GRCm39)	I3826L	probably benign	Het
Hinfp	A	G	9: 44,211,060 (GRCm39)	C67R	probably damaging	Het
Hp1bp3	C	T	4: 137,964,520 (GRCm39)	S348F	probably damaging	Het
Hspg2	T	C	4: 137,279,198 (GRCm39)	Y3094H	probably damaging	Het
Htr1f	A	G	16: 64,747,091 (GRCm39)	V67A	probably damaging	Het
Idi2l	T	A	13: 8,990,563 (GRCm39)		probably benign	Het
Iqcc	T	G	4: 129,510,392 (GRCm39)	E374D	probably damaging	Het
Kcnj9	T	C	1: 172,153,765 (GRCm39)	T120A	probably damaging	Het
Kitl	C	T	10: 99,923,226 (GRCm39)	P208S	probably benign	Het
Kmt2b	A	T	7: 30,283,346 (GRCm39)	C296S	probably damaging	Het
Lgals4	A	G	7: 28,533,657 (GRCm39)		probably null	Het
Lpcat4	A	G	2: 112,077,093 (GRCm39)	Y479C	probably damaging	Het
Lrrc74b	T	C	16: 17,371,016 (GRCm39)	N227S	probably damaging	Het
Mdc1	T	A	17: 36,163,473 (GRCm39)	V1007D	probably damaging	Het
Mocos	T	G	18: 24,812,819 (GRCm39)	I571S	probably benign	Het
Myh8	A	G	11: 67,183,014 (GRCm39)	N659D	probably damaging	Het
Mylk	T	C	16: 34,695,874 (GRCm39)	V203A	probably benign	Het
Myom2	A	G	8: 15,133,329 (GRCm39)	N407S	probably damaging	Het
Naip2	A	G	13: 100,320,296 (GRCm39)	V240A	probably benign	Het
Nap1l1	T	C	10: 111,321,370 (GRCm39)	S37P	probably benign	Het
Nin	T	G	12: 70,097,915 (GRCm39)	K515T	probably damaging	Het
Npl	T	A	1: 153,384,864 (GRCm39)	K258*	probably null	Het
Ntn4	T	A	10: 93,480,569 (GRCm39)	S98T	possibly damaging	Het
Or10x1	T	C	1: 174,197,152 (GRCm39)	V223A	probably damaging	Het
Or2t6	T	C	14: 14,175,620 (GRCm38)	D154G	probably benign	Het
Or2z8	C	T	8: 72,812,244 (GRCm39)	T240M	probably damaging	Het
Or5k14	C	A	16: 58,693,269 (GRCm39)	M81I	probably benign	Het
Or8u10	T	C	2: 85,915,844 (GRCm39)	I92M	probably damaging	Het
Pasd1	T	C	X: 70,983,161 (GRCm39)	C378R	possibly damaging	Het
Pate3	A	G	9: 35,557,453 (GRCm39)	C68R	probably damaging	Het
Pcdh15	A	G	10: 74,006,440 (GRCm39)	D106G	probably null	Het
Ppox	C	A	1: 171,106,849 (GRCm39)	A192S	possibly damaging	Het
Prkdc	T	C	16: 15,531,517 (GRCm39)	L1380S	probably benign	Het
Proc	C	T	18: 32,268,951 (GRCm39)	M11I	probably benign	Het
Psd4	C	A	2: 24,295,363 (GRCm39)	A839E	probably damaging	Het
Psg21	A	G	7: 18,388,793 (GRCm39)	Y100H	probably benign	Het
Pten	T	A	19: 32,753,469 (GRCm39)	V45E	probably benign	Het
Ptprn2	T	G	12: 116,685,711 (GRCm39)	F57V	probably damaging	Het
Ptprt	C	T	2: 162,120,030 (GRCm39)	V146I	probably benign	Het
R3hdm2	T	A	10: 127,334,322 (GRCm39)	M915K	probably damaging	Het
Rab26	C	T	17: 24,749,759 (GRCm39)		probably null	Het
Rab7b	T	C	1: 131,626,293 (GRCm39)	L107P	probably damaging	Het
Rbm47	T	A	5: 66,183,872 (GRCm39)	T244S	possibly damaging	Het
Rhbdf2	C	A	11: 116,496,170 (GRCm39)	G122C	probably damaging	Het
Rnf213	A	G	11: 119,321,187 (GRCm39)	E1215G	probably benign	Het
Rprd2	T	C	3: 95,681,673 (GRCm39)	K407E	probably damaging	Het
Siah3	G	A	14: 75,693,574 (GRCm39)	V27I	possibly damaging	Het
Slc12a3	G	A	8: 95,067,511 (GRCm39)		probably benign	Het
Slc14a2	T	A	18: 78,235,338 (GRCm39)	N280Y	probably damaging	Het
Slc17a3	C	T	13: 24,039,841 (GRCm39)	S293F	probably damaging	Het
Slc25a35	A	G	11: 68,862,786 (GRCm39)	Y247C	probably damaging	Het
Slc29a4	A	G	5: 142,691,285 (GRCm39)	D55G	probably benign	Het
Slc35d1	C	T	4: 103,065,378 (GRCm39)	V189I	probably benign	Het
Spg11	T	C	2: 121,901,449 (GRCm39)	E1497G	probably damaging	Het
Srrm1	G	A	4: 135,067,884 (GRCm39)	R322*	probably null	Het
Stac3	A	T	10: 127,339,519 (GRCm39)	R138S	probably damaging	Het
Tet3	C	G	6: 83,345,770 (GRCm39)	G1556R	probably damaging	Het
Tgfbr3	A	G	5: 107,280,682 (GRCm39)	S693P	probably benign	Het
Tmcc2	C	T	1: 132,308,444 (GRCm39)	G150D	probably benign	Het
Tmem216	T	C	19: 10,531,970 (GRCm39)	Y44C	probably damaging	Het
Tmem260	T	A	14: 48,720,779 (GRCm39)	C306*	probably null	Het
Tspyl1	A	G	10: 34,159,085 (GRCm39)	N270S	probably damaging	Het
Ubr4	A	G	4: 139,191,362 (GRCm39)	T4127A	possibly damaging	Het
Ugt2a2	T	A	5: 87,622,720 (GRCm39)	K293*	probably null	Het
Vmn2r102	A	C	17: 19,899,025 (GRCm39)	T456P	probably benign	Het
Vmn2r90	T	A	17: 17,932,511 (GRCm39)	S139R	probably benign	Het
Zc3h12c	T	A	9: 52,037,923 (GRCm39)	I305F	possibly damaging	Het
Zmym2	A	G	14: 57,180,715 (GRCm39)	N876D	probably benign	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
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
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

Predicted Primers

PCR Primer
(F):5'- TGGCACCCAGAAGTTGCACTTTAC -3'
(R):5'- AGGGGCTGCACACAATCTACTCAC -3'

Sequencing Primer
(F):5'- CCCAGAAGTTGCACTTTACATATGC -3'
(R):5'- AATCTACTCACTCAGAGCTGC -3'

Posted On

2013-04-11