Mutagenetix > Incidental Mutation

Incidental Mutation 'R0638:Wrnip1'

56831

Institutional Source

Beutler Lab

Gene Symbol

Wrnip1

Ensembl Gene

ENSMUSG00000021400

Gene Name

Werner helicase interacting protein 1

Synonyms

4833444L21Rik, WHIP

MMRRC Submission

038827-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0638 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

32986021-33006592 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 33005073 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 560 (C560Y)

Ref Sequence

ENSEMBL: ENSMUSP00000021832 (fasta)

Gene Model

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

AlphaFold

Q91XU0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000021832
AA Change: C560Y

PolyPhen 2 Score 0.817 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000021832
Gene: ENSMUSG00000021400
AA Change: C560Y

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

Meta Mutation Damage Score

0.8981

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.1%
20x: 93.5%

Validation Efficiency

99% (76/77)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	C	A	2: 68,547,572 (GRCm39)	Q161K	probably benign	Het
Aatk	A	T	11: 119,900,748 (GRCm39)	L1216Q	probably damaging	Het
Aifm3	T	C	16: 17,321,535 (GRCm39)	F463L	possibly damaging	Het
Antxr2	C	T	5: 98,108,496 (GRCm39)	W338*	probably null	Het
Apc2	T	C	10: 80,140,801 (GRCm39)	S219P	probably damaging	Het
Arfgap3	A	T	15: 83,192,389 (GRCm39)		probably null	Het
Arrdc5	A	G	17: 56,607,020 (GRCm39)	V75A	possibly damaging	Het
Atg16l2	A	T	7: 100,949,317 (GRCm39)		probably null	Het
Cacna1i	A	G	15: 80,265,281 (GRCm39)	N1511S	possibly damaging	Het
Cad	T	C	5: 31,235,032 (GRCm39)	Y2095H	probably damaging	Het
Chia1	T	C	3: 106,035,753 (GRCm39)		probably benign	Het
Crybg2	A	G	4: 133,801,765 (GRCm39)	D975G	probably damaging	Het
Dagla	T	C	19: 10,232,247 (GRCm39)	I480V	probably damaging	Het
Efl1	C	T	7: 82,301,095 (GRCm39)	T33I	probably damaging	Het
Esp36	A	G	17: 38,728,060 (GRCm39)	F74L	probably benign	Het
Faim	T	C	9: 98,874,149 (GRCm39)		probably benign	Het
Fam83h	G	T	15: 75,875,776 (GRCm39)	H520Q	probably benign	Het
Fbn2	A	T	18: 58,178,446 (GRCm39)	C1931S	probably damaging	Het
Frs3	A	G	17: 48,012,581 (GRCm39)	D96G	probably benign	Het
Gbp4	A	G	5: 105,269,706 (GRCm39)	M374T	probably damaging	Het
Gimap1	C	T	6: 48,718,359 (GRCm39)		probably benign	Het
Gm10010	A	G	6: 128,177,576 (GRCm39)		noncoding transcript	Het
Gm10355	T	C	3: 101,214,214 (GRCm39)		noncoding transcript	Het
Gmip	C	T	8: 70,264,095 (GRCm39)		probably benign	Het
Gpc2	A	T	5: 138,276,796 (GRCm39)	F110Y	possibly damaging	Het
Ifi44l	C	T	3: 151,468,396 (GRCm39)	V45M	probably benign	Het
Il15	T	C	8: 83,069,890 (GRCm39)	E58G	probably damaging	Het
Kat2b	T	C	17: 53,951,771 (GRCm39)		probably benign	Het
Kcnh7	C	A	2: 62,607,854 (GRCm39)	V576L	probably benign	Het
Lrrc66	T	A	5: 73,772,816 (GRCm39)		probably benign	Het
Mical1	A	G	10: 41,358,235 (GRCm39)	E416G	probably benign	Het
Mroh3	A	G	1: 136,118,740 (GRCm39)	Y526H	probably damaging	Het
Mtx2	T	C	2: 74,699,634 (GRCm39)		probably benign	Het
Naip6	A	T	13: 100,437,036 (GRCm39)	Y496N	probably benign	Het
Nfyc	A	G	4: 120,626,081 (GRCm39)	S73P	probably benign	Het
Or10v9	C	T	19: 11,832,487 (GRCm39)	V277M	probably damaging	Het
Or10v9	A	C	19: 11,832,732 (GRCm39)	V195G	probably damaging	Het
Or1e23	T	A	11: 73,407,750 (GRCm39)	I92F	probably damaging	Het
Or5ak25	A	G	2: 85,268,845 (GRCm39)	I219T	probably benign	Het
Or6c69b	T	A	10: 129,627,101 (GRCm39)	D119V	probably damaging	Het
P2ry14	A	G	3: 59,022,869 (GRCm39)	V206A	probably benign	Het
Polg	G	A	7: 79,109,896 (GRCm39)		probably benign	Het
Potefam1	T	C	2: 111,030,763 (GRCm39)	E382G	probably damaging	Het
Ptgs1	G	A	2: 36,130,868 (GRCm39)		probably benign	Het
Pus7l	A	G	15: 94,421,298 (GRCm39)	S671P	probably benign	Het
Ralgapa2	T	C	2: 146,184,112 (GRCm39)	T1547A	probably benign	Het
Rif1	T	C	2: 52,001,600 (GRCm39)	S1685P	probably benign	Het
Rnf213	T	C	11: 119,361,036 (GRCm39)	Y4452H	probably damaging	Het
Samd7	A	G	3: 30,810,670 (GRCm39)	D229G	probably benign	Het
Serpina3j	T	C	12: 104,281,078 (GRCm39)	S84P	possibly damaging	Het
Slc35d1	A	G	4: 103,070,441 (GRCm39)		probably benign	Het
Sorbs2	A	G	8: 46,249,347 (GRCm39)	D847G	probably damaging	Het
Sp110	A	C	1: 85,505,050 (GRCm39)	F434C	probably benign	Het
Steap4	T	C	5: 8,027,030 (GRCm39)		probably benign	Het
Tg	A	C	15: 66,589,057 (GRCm39)	T13P	probably damaging	Het
Timeless	T	A	10: 128,080,542 (GRCm39)	Y474*	probably null	Het
Tmem94	T	C	11: 115,682,886 (GRCm39)		probably null	Het
Trdmt1	G	A	2: 13,521,459 (GRCm39)		probably benign	Het
Trim23	T	C	13: 104,337,817 (GRCm39)	Y522H	probably benign	Het
Ttc13	A	T	8: 125,401,105 (GRCm39)	S624T	probably damaging	Het
Txnl1	A	G	18: 63,825,135 (GRCm39)		probably benign	Het
Unkl	T	C	17: 25,427,057 (GRCm39)		probably benign	Het
Usp54	T	A	14: 20,639,437 (GRCm39)		probably benign	Het
Vcam1	T	C	3: 115,910,908 (GRCm39)	K497E	possibly damaging	Het
Vmn1r49	C	A	6: 90,049,648 (GRCm39)	S118I	possibly damaging	Het
Vmn2r118	T	C	17: 55,915,466 (GRCm39)	K495E	probably benign	Het
Xkr5	T	C	8: 18,983,563 (GRCm39)	R660G	probably benign	Het
Zfp280c	A	G	X: 47,637,580 (GRCm39)		probably benign	Het
Zfp707	G	A	15: 75,846,978 (GRCm39)	A291T	possibly damaging	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
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
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'- TCCACAAGAGGCCATTTTGACACC -3'
(R):5'- CCACTGCTTCCTGTTCCCAGAAAG -3'

Sequencing Primer
(F):5'- GAGGCCATTTTGACACCAACAG -3'
(R):5'- caggaggctgaggcagg -3'

Posted On

2013-07-11