Mutagenetix > Incidental Mutation

Incidental Mutation 'R0538:Wrn'

49589

Institutional Source

Beutler Lab

Gene Symbol

Wrn

Ensembl Gene

ENSMUSG00000031583

Gene Name

Werner syndrome RecQ like helicase

Synonyms

MMRRC Submission

038730-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.411) question?

Stock #

R0538 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

33234384-33385527 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 33336091 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Isoleucine at position 181 (K181I)

Ref Sequence

ENSEMBL: ENSMUSP00000033991 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033990] [ENSMUST00000033991]

AlphaFold

O09053

Predicted Effect

probably damaging
Transcript: ENSMUST00000033990
AA Change: K181I

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000033990
Gene: ENSMUSG00000031583
AA Change: K181I

Domain	Start	End	E-Value	Type
35EXOc	47	226	1e-47	SMART
low complexity region	484	489	N/A	INTRINSIC
DEXDc	509	704	2.3e-28	SMART
HELICc	743	824	3.7e-27	SMART
RQC	923	1028	3.1e-28	SMART
HRDC	1115	1194	1.5e-26	SMART
low complexity region	1205	1216	N/A	INTRINSIC
Pfam:HTH_40	1222	1318	2.7e-9	PFAM
low complexity region	1342	1356	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000033991
AA Change: K181I

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000033991
Gene: ENSMUSG00000031583
AA Change: K181I

Domain	Start	End	E-Value	Type
35EXOc	47	226	1.1e-47	SMART
low complexity region	484	489	N/A	INTRINSIC
DEXDc	509	704	2.4e-28	SMART
HELICc	743	824	3.7e-27	SMART
Pfam:RecQ_Zn_bind	835	905	2.2e-8	PFAM
RQC	923	1028	3.2e-28	SMART
HRDC	1115	1194	1.5e-26	SMART
low complexity region	1205	1216	N/A	INTRINSIC
Pfam:HTH_40	1223	1317	4.3e-10	PFAM
low complexity region	1342	1356	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209293

Meta Mutation Damage Score

0.3060

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.7%

Validation Efficiency

98% (126/129)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the RecQ subfamily and the DEAH (Asp-Glu-Ala-His) subfamily of DNA and RNA helicases. DNA helicases are involved in many aspects of DNA metabolism, including transcription, replication, recombination, and repair. This protein contains a nuclear localization signal in the C-terminus and shows a predominant nucleolar localization. It possesses an intrinsic 3' to 5' DNA helicase activity, and is also a 3' to 5' exonuclease. Based on interactions between this protein and Ku70/80 heterodimer in DNA end processing, this protein may be involved in the repair of double strand DNA breaks. Defects in this gene are the cause of Werner syndrome, an autosomal recessive disorder characterized by premature aging. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutants show enhanced frequency and variety of tumors in conjunction with Trp53 knockout alleles. Homozygotes also have an elevated frequency of somatic reversion of the pink-eyed dilution unstable mutation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 129 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930578I07Rik	A	T	14: 66,938,374	H6L	unknown	Het
Abca13	G	A	11: 9,267,622		probably null	Het
Acad12	C	T	5: 121,607,448	R260Q	possibly damaging	Het
Actn1	G	A	12: 80,260,100		probably benign	Het
Acvrl1	A	G	15: 101,136,149	T182A	probably damaging	Het
Adam23	T	C	1: 63,567,844		probably benign	Het
Adamtsl1	A	T	4: 86,343,121	T1190S	probably benign	Het
Adh6b	A	T	3: 138,357,650	Y330F	probably benign	Het
Ak7	A	G	12: 105,766,617	E540G	probably damaging	Het
Akr1c19	T	A	13: 4,237,100	L106Q	probably damaging	Het
Ankrd12	A	T	17: 66,049,852	S57T	probably damaging	Het
Aoc3	G	A	11: 101,332,138	R400Q	possibly damaging	Het
Arel1	A	T	12: 84,941,837	I46N	probably damaging	Het
Armc5	A	G	7: 128,244,291	D752G	probably damaging	Het
Atp11b	T	C	3: 35,837,014	V812A	probably damaging	Het
Axin1	A	G	17: 26,184,241	H131R	possibly damaging	Het
Bpifb3	A	G	2: 153,923,869	E184G	probably benign	Het
Cacna2d2	T	C	9: 107,524,383		probably benign	Het
Catsperd	T	C	17: 56,662,828	F641L	probably benign	Het
Ccdc83	A	C	7: 90,228,383	L284V	probably damaging	Het
Ccnt2	T	A	1: 127,803,165	V593E	probably damaging	Het
Cd53	T	A	3: 106,762,128	I185F	probably benign	Het
Cep350	A	T	1: 155,848,620	D3077E	possibly damaging	Het
Ces1h	C	A	8: 93,357,000		probably null	Het
Chrna3	T	A	9: 55,016,006	T173S	probably benign	Het
Clca4b	T	C	3: 144,921,956	D418G	probably benign	Het
Col11a2	T	C	17: 34,051,328		probably benign	Het
Coq2	T	A	5: 100,668,023	I97F	possibly damaging	Het
Cr2	A	G	1: 195,160,359		probably benign	Het
Ctgf	T	A	10: 24,596,466	C136S	probably damaging	Het
D2hgdh	A	G	1: 93,826,377	Y24C	probably damaging	Het
D630045J12Rik	G	A	6: 38,191,693	R974C	probably damaging	Het
Dach1	A	G	14: 97,903,279	V429A	possibly damaging	Het
Ddr1	G	A	17: 35,685,007	T660I	probably damaging	Het
Dlg1	A	C	16: 31,796,864		probably null	Het
Dmbt1	T	C	7: 131,049,901		probably benign	Het
Dmxl2	A	T	9: 54,393,836	D2330E	probably benign	Het
Doc2a	A	G	7: 126,848,811	T5A	probably benign	Het
Dock2	G	A	11: 34,704,718		probably benign	Het
Dok4	T	A	8: 94,865,238	Y290F	probably damaging	Het
Dopey1	A	G	9: 86,485,497	D11G	probably damaging	Het
E230025N22Rik	T	C	18: 36,688,934	H235R	probably benign	Het
Ear6	A	G	14: 51,854,452	D152G	probably damaging	Het
Ecscr	T	A	18: 35,713,636		probably benign	Het
Eml6	A	T	11: 29,760,010		probably benign	Het
Epha4	T	A	1: 77,388,541	Q607L	probably damaging	Het
Exoc4	A	G	6: 33,972,063	N947S	probably benign	Het
Flg	A	G	3: 93,279,460	E73G	probably damaging	Het
Fndc1	C	T	17: 7,784,341		probably benign	Het
Gad1-ps	T	C	10: 99,444,992		noncoding transcript	Het
Gata6	A	G	18: 11,064,771	T528A	probably benign	Het
Gjd4	T	C	18: 9,280,244	E278G	probably benign	Het
Gm13101	T	A	4: 143,965,083	T357S	possibly damaging	Het
Gm20091	T	A	10: 96,409,002		noncoding transcript	Het
Gnb3	G	A	6: 124,835,696	Q266*	probably null	Het
Grm3	A	G	5: 9,512,446	V468A	possibly damaging	Het
Igf1r	C	T	7: 68,207,826	R1085C	probably damaging	Het
Igsf10	T	C	3: 59,320,106	T2049A	probably damaging	Het
Jak3	A	T	8: 71,685,482	D859V	probably benign	Het
Kcnb2	G	T	1: 15,712,884		probably benign	Het
Kcnh3	G	A	15: 99,240,958	G858D	probably benign	Het
Kif1a	C	A	1: 93,043,638	R1006L	probably damaging	Het
Klhl23	C	T	2: 69,824,413	A209V	probably benign	Het
Mapk13	T	C	17: 28,775,255	Y104H	probably damaging	Het
Mbd4	A	G	6: 115,849,482	S183P	probably damaging	Het
Mga	T	C	2: 119,919,706		probably null	Het
Mipol1	G	A	12: 57,414,411		probably null	Het
Mmp14	A	G	14: 54,438,709	T299A	possibly damaging	Het
Mmrn1	A	G	6: 60,976,469	E578G	probably benign	Het
Mov10l1	G	A	15: 88,994,860	C193Y	possibly damaging	Het
Mppe1	A	G	18: 67,237,477	C50R	probably damaging	Het
Msantd1	C	A	5: 34,917,725	R44S	probably damaging	Het
Myt1l	T	C	12: 29,842,571	V69A	possibly damaging	Het
Nav1	A	T	1: 135,464,692		probably benign	Het
Ncan	A	G	8: 70,108,602	S572P	possibly damaging	Het
Nck2	T	C	1: 43,569,144		probably benign	Het
Nemf	A	T	12: 69,356,314	D31E	probably damaging	Het
Nlrp12	T	C	7: 3,249,262	D93G	possibly damaging	Het
Nsmaf	A	T	4: 6,419,930		probably null	Het
Nup98	T	C	7: 102,186,685	T184A	probably damaging	Het
Olfr1415	A	T	1: 92,491,333	C141S	possibly damaging	Het
Olfr46	A	T	7: 140,610,384	N73Y	probably damaging	Het
Olfr522	A	T	7: 140,162,231	S240T	probably damaging	Het
Oog2	C	A	4: 144,196,084	Y306*	probably null	Het
Osmr	A	G	15: 6,841,938		probably benign	Het
P2rx6	A	G	16: 17,568,298	N275S	probably benign	Het
Papd4	A	T	13: 93,175,615		probably benign	Het
Pbxip1	G	T	3: 89,447,619	G482W	possibly damaging	Het
Pcsk4	T	G	10: 80,325,334	I249L	probably damaging	Het
Pou4f2	C	T	8: 78,435,662	G104E	probably damaging	Het
Prkdc	G	T	16: 15,833,788	R3763L	probably damaging	Het
Ptpre	A	T	7: 135,663,315	I207F	probably damaging	Het
Rapgef3	A	T	15: 97,757,817		probably benign	Het
Rasgrp1	T	G	2: 117,284,947	K685T	probably benign	Het
Rnf148	C	T	6: 23,654,238	R253Q	probably damaging	Het
Rock1	T	C	18: 10,132,227	I241V	possibly damaging	Het
Rp1l1	T	G	14: 64,022,092	V61G	probably damaging	Het
Scin	A	C	12: 40,081,771	S255A	probably damaging	Het
Scn8a	A	T	15: 101,035,624	K1570*	probably null	Het
Sec14l4	A	C	11: 4,040,018	M106L	probably benign	Het
Sec63	G	A	10: 42,798,799	R226H	probably benign	Het
Sept2	T	A	1: 93,501,623	N271K	probably damaging	Het
Serac1	G	T	17: 6,048,826		probably benign	Het
Shc2	T	A	10: 79,630,140		probably benign	Het
Sipa1l1	T	A	12: 82,425,099	D1284E	probably benign	Het
Slc11a2	A	G	15: 100,408,216	L105P	probably damaging	Het
Slc1a3	T	A	15: 8,650,922	T151S	probably benign	Het
Smarca2	G	T	19: 26,691,362	K920N	probably damaging	Het
Sugp2	G	A	8: 70,258,948	E964K	probably damaging	Het
Tas2r122	A	C	6: 132,711,815	N38K	probably benign	Het
Tecpr1	G	A	5: 144,206,274	R730C	probably damaging	Het
Themis3	G	T	17: 66,593,270	N34K	possibly damaging	Het
Traf3ip1	A	G	1: 91,499,619	T104A	unknown	Het
Trappc11	A	G	8: 47,503,412	V843A	probably benign	Het
Trmt61a	T	A	12: 111,678,927	L99Q	probably damaging	Het
Trp53tg5	T	A	2: 164,471,481	K91N	probably damaging	Het
Ufsp2	T	C	8: 45,992,150	S339P	probably damaging	Het
Usp20	T	A	2: 31,004,450	V126E	probably damaging	Het
Vmn1r75	T	A	7: 11,880,870	N176K	probably damaging	Het
Vmn2r24	A	G	6: 123,816,053	S780G	probably benign	Het
Vmn2r89	A	G	14: 51,457,591		probably null	Het
Vps13d	A	T	4: 145,045,095	S4038T	probably damaging	Het
Vwa7	A	G	17: 35,022,651	T421A	probably damaging	Het
Wdr78	T	C	4: 103,096,618	N128S	possibly damaging	Het
Wdr95	C	A	5: 149,580,806	L332I	probably damaging	Het
Zc3h6	T	A	2: 129,017,223	I1058N	possibly damaging	Het
Zfp423	T	A	8: 87,782,085	I544F	probably damaging	Het
Zfp446	T	A	7: 12,979,589	S161T	possibly damaging	Het
Zmym6	T	A	4: 127,123,369	M889K	probably benign	Het

Other mutations in Wrn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00659:Wrn	APN	8	33322377	splice site	probably benign
IGL00661:Wrn	APN	8	33319145	splice site	probably benign
IGL01472:Wrn	APN	8	33329172	missense	possibly damaging	0.93
IGL01544:Wrn	APN	8	33324526	missense	probably benign	0.00
IGL01599:Wrn	APN	8	33241011	missense	possibly damaging	0.69
IGL01688:Wrn	APN	8	33310702	splice site	probably benign
IGL01916:Wrn	APN	8	33257224	missense	possibly damaging	0.78
IGL01925:Wrn	APN	8	33319180	missense	probably benign	0.42
IGL02068:Wrn	APN	8	33310749	missense	probably benign	0.38
IGL02084:Wrn	APN	8	33285179	missense	probably benign
IGL02167:Wrn	APN	8	33317555	missense	probably damaging	1.00
IGL02230:Wrn	APN	8	33317563	missense	probably damaging	1.00
IGL02717:Wrn	APN	8	33343573	missense	probably damaging	1.00
IGL02982:Wrn	APN	8	33343066	missense	probably damaging	1.00
IGL03030:Wrn	APN	8	33248961	missense	possibly damaging	0.94
IGL03088:Wrn	APN	8	33268823	splice site	probably benign
IGL03179:Wrn	APN	8	33310706	splice site	probably null
IGL03306:Wrn	APN	8	33336121	missense	probably damaging	1.00
R0004:Wrn	UTSW	8	33317560	missense	probably damaging	1.00
R0190:Wrn	UTSW	8	33240983	missense	probably benign	0.02
R0441:Wrn	UTSW	8	33268750	missense	probably benign	0.24
R0463:Wrn	UTSW	8	33280815	missense	possibly damaging	0.84
R0682:Wrn	UTSW	8	33267820	missense	probably benign	0.00
R0729:Wrn	UTSW	8	33248918	splice site	probably null
R0744:Wrn	UTSW	8	33295006	missense	possibly damaging	0.91
R0836:Wrn	UTSW	8	33295006	missense	possibly damaging	0.91
R1168:Wrn	UTSW	8	33316408	missense	probably damaging	1.00
R1301:Wrn	UTSW	8	33292686	missense	probably damaging	1.00
R1352:Wrn	UTSW	8	33294916	missense	probably benign	0.25
R1396:Wrn	UTSW	8	33268819	missense	probably damaging	1.00
R1432:Wrn	UTSW	8	33319141	splice site	probably benign
R1523:Wrn	UTSW	8	33292716	missense	probably benign	0.23
R1625:Wrn	UTSW	8	33329130	missense	probably benign	0.01
R1664:Wrn	UTSW	8	33280766	splice site	probably null
R1773:Wrn	UTSW	8	33343561	missense	probably damaging	1.00
R1864:Wrn	UTSW	8	33288864	missense	probably damaging	0.99
R1868:Wrn	UTSW	8	33257221	missense	probably benign	0.03
R2011:Wrn	UTSW	8	33236404	missense	probably benign	0.02
R2075:Wrn	UTSW	8	33322329	missense	probably benign	0.00
R2091:Wrn	UTSW	8	33267825	missense	probably benign
R2213:Wrn	UTSW	8	33257015	missense	probably benign	0.05
R2255:Wrn	UTSW	8	33329202	missense	probably benign	0.13
R2276:Wrn	UTSW	8	33324556	missense	probably benign	0.02
R3177:Wrn	UTSW	8	33317554	missense	probably damaging	1.00
R3277:Wrn	UTSW	8	33317554	missense	probably damaging	1.00
R3779:Wrn	UTSW	8	33241020	missense	probably damaging	1.00
R3827:Wrn	UTSW	8	33324520	missense	probably benign	0.00
R4111:Wrn	UTSW	8	33352155	missense	probably benign	0.02
R4392:Wrn	UTSW	8	33251832	missense	probably damaging	0.99
R4458:Wrn	UTSW	8	33294998	missense	probably damaging	0.99
R4650:Wrn	UTSW	8	33255509	missense	probably benign	0.05
R4656:Wrn	UTSW	8	33335991	splice site	probably null
R4657:Wrn	UTSW	8	33335991	splice site	probably null
R4667:Wrn	UTSW	8	33324338	missense	probably benign	0.00
R4735:Wrn	UTSW	8	33285222	missense	probably damaging	1.00
R4933:Wrn	UTSW	8	33322343	missense	probably benign	0.01
R5104:Wrn	UTSW	8	33267867	splice site	probably null
R5166:Wrn	UTSW	8	33352072	critical splice donor site	probably null
R5279:Wrn	UTSW	8	33241101	missense	probably damaging	1.00
R5400:Wrn	UTSW	8	33294917	missense	probably benign	0.02
R5575:Wrn	UTSW	8	33336130	missense	probably benign	0.02
R5695:Wrn	UTSW	8	33324318	missense	probably benign	0.26
R5729:Wrn	UTSW	8	33268778	missense	probably benign	0.02
R6044:Wrn	UTSW	8	33236429	missense	probably damaging	1.00
R6139:Wrn	UTSW	8	33353332	missense	probably damaging	1.00
R6158:Wrn	UTSW	8	33319172	missense	probably damaging	1.00
R6192:Wrn	UTSW	8	33284654	missense	probably benign	0.12
R6243:Wrn	UTSW	8	33284654	missense	possibly damaging	0.94
R6354:Wrn	UTSW	8	33343638	missense	possibly damaging	0.93
R6429:Wrn	UTSW	8	33342996	missense	probably damaging	1.00
R6490:Wrn	UTSW	8	33319220	missense	probably benign	0.01
R6529:Wrn	UTSW	8	33335976	splice site	probably null
R6535:Wrn	UTSW	8	33336103	missense	probably damaging	0.99
R7001:Wrn	UTSW	8	33352129	missense	probably benign	0.04
R7114:Wrn	UTSW	8	33285121	frame shift	probably null
R7198:Wrn	UTSW	8	33324318	missense	probably benign	0.00
R7200:Wrn	UTSW	8	33322348	missense	probably benign	0.00
R7227:Wrn	UTSW	8	33248946	missense	probably damaging	1.00
R7299:Wrn	UTSW	8	33292718	missense	probably damaging	1.00
R7374:Wrn	UTSW	8	33268911	missense	probably damaging	1.00
R7402:Wrn	UTSW	8	33248966	missense	probably benign	0.00
R7404:Wrn	UTSW	8	33248966	missense	probably benign	0.00
R7405:Wrn	UTSW	8	33248966	missense	probably benign	0.00
R7464:Wrn	UTSW	8	33335996	critical splice donor site	probably null
R7474:Wrn	UTSW	8	33329181	missense	probably damaging	0.96
R7609:Wrn	UTSW	8	33310713	missense	possibly damaging	0.50
R7729:Wrn	UTSW	8	33324426	missense	probably benign	0.21
R7830:Wrn	UTSW	8	33269054	missense	probably damaging	0.97
R7998:Wrn	UTSW	8	33292643	missense	probably benign	0.10
R8239:Wrn	UTSW	8	33329185	missense	probably damaging	1.00
R8262:Wrn	UTSW	8	33324246	missense	probably benign	0.07
R8410:Wrn	UTSW	8	33269020	missense	probably damaging	1.00
R8480:Wrn	UTSW	8	33288768	missense	probably benign	0.10
R8530:Wrn	UTSW	8	33280824	missense	possibly damaging	0.83
R8540:Wrn	UTSW	8	33352126	missense	probably damaging	0.96
R8708:Wrn	UTSW	8	33292643	missense	probably damaging	0.96
R8783:Wrn	UTSW	8	33336013	missense	probably null	1.00
R8870:Wrn	UTSW	8	33329192	missense	probably benign	0.01
R8876:Wrn	UTSW	8	33324394	missense	probably benign	0.00
R9050:Wrn	UTSW	8	33342993	missense	probably damaging	1.00
R9329:Wrn	UTSW	8	33240978	missense	probably benign
R9595:Wrn	UTSW	8	33268933	missense	probably benign
R9621:Wrn	UTSW	8	33324273	missense	probably benign	0.01
R9623:Wrn	UTSW	8	33284616	critical splice donor site	probably null
R9797:Wrn	UTSW	8	33268922	missense	probably benign	0.02
RF010:Wrn	UTSW	8	33288765	missense	probably benign	0.13
X0017:Wrn	UTSW	8	33280782	missense	probably damaging	1.00
Z1176:Wrn	UTSW	8	33334209	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- ACAGGAATTGGACATCGCTTTACATCG -3'
(R):5'- AGCCCTTTGATACCCACATTATGGAAC -3'

Sequencing Primer
(F):5'- GGACATCGCTTTACATCGTAATAG -3'
(R):5'- GGAACCTCGGAGTTAAATTCCTAC -3'

Posted On

2013-06-12