Mutagenetix > Incidental Mutation

Incidental Mutation 'R4933:Wrn'

380726

Institutional Source

Beutler Lab

Gene Symbol

Wrn

Ensembl Gene

ENSMUSG00000031583

Gene Name

Werner syndrome RecQ like helicase

Synonyms

MMRRC Submission

042533-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.311) question?

Stock #

R4933 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

33234384-33385527 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 33322343 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 182 (N182S)

Ref Sequence

ENSEMBL: ENSMUSP00000147379 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033990] [ENSMUST00000033991] [ENSMUST00000211498]

AlphaFold

O09053

Predicted Effect

probably benign
Transcript: ENSMUST00000033990
AA Change: N425S

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000033990
Gene: ENSMUSG00000031583
AA Change: N425S

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 benign
Transcript: ENSMUST00000033991
AA Change: N425S

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000033991
Gene: ENSMUSG00000031583
AA Change: N425S

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

Predicted Effect

probably benign
Transcript: ENSMUST00000211498
AA Change: N182S

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

Meta Mutation Damage Score

0.0630

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.4%
20x: 89.3%

Validation Efficiency

97% (73/75)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610021A01Rik	A	G	7: 41,626,802	E643G	probably damaging	Het
4430402I18Rik	G	T	19: 28,941,775	H195N	possibly damaging	Het
Abca2	T	C	2: 25,444,827	V1937A	probably benign	Het
Acot10	A	T	15: 20,666,330	N108K	possibly damaging	Het
Agtpbp1	A	T	13: 59,500,572	M478K	probably benign	Het
Akirin1	G	A	4: 123,736,858	S191F	probably damaging	Het
Aurkb	T	C	11: 69,048,144		probably benign	Het
Cabyr	T	C	18: 12,744,492		probably benign	Het
Ccp110	A	G	7: 118,725,319	E688G	probably damaging	Het
Champ1	T	A	8: 13,879,137	S432T	probably benign	Het
Crybg1	T	A	10: 43,999,213	N633I	probably damaging	Het
Dagla	A	T	19: 10,269,715		probably null	Het
Dkkl1	A	T	7: 45,211,525	L10Q	probably null	Het
Dnah8	G	A	17: 30,748,568	D2585N	probably benign	Het
E430018J23Rik	A	G	7: 127,393,349	Y30H	probably damaging	Het
Fndc7	G	T	3: 108,876,670	Q208K	probably benign	Het
Gins4	A	T	8: 23,234,780	C53S	probably damaging	Het
Gja8	T	A	3: 96,919,035		probably benign	Het
Golph3l	T	A	3: 95,617,423	N328K	probably benign	Het
Haus6	A	C	4: 86,585,287		probably benign	Het
Hdac5	A	G	11: 102,200,563		probably benign	Het
Ide	A	G	19: 37,277,756	Y883H	unknown	Het
Igf2r	A	G	17: 12,691,877		probably null	Het
Kdm3b	T	C	18: 34,810,393	Y723H	probably damaging	Het
Kif21b	G	A	1: 136,151,325		probably null	Het
Lancl1	A	T	1: 67,021,034	N77K	probably benign	Het
Lyst	T	A	13: 13,637,764	N920K	probably damaging	Het
Lyst	G	A	13: 13,759,378	V3554I	probably benign	Het
Map1a	G	A	2: 121,305,905	A2163T	probably damaging	Het
Mapk7	G	T	11: 61,493,908		probably benign	Het
Myo10	C	A	15: 25,781,118	Q154K	probably damaging	Het
Olfr13	C	T	6: 43,174,321	L112F	probably benign	Het
Olfr132	A	G	17: 38,130,550	I214T	probably damaging	Het
Pcdhgb2	G	A	18: 37,692,214	V753M	probably benign	Het
Pnn	T	A	12: 59,070,227	L195Q	probably damaging	Het
Pot1a	A	G	6: 25,771,541	V227A	possibly damaging	Het
Ppp1r21	T	A	17: 88,547,621	D109E	probably benign	Het
Prr15l	G	A	11: 96,934,762	G73S	probably damaging	Het
Rnf148	A	G	6: 23,654,340	F219S	probably benign	Het
Rnpep	C	A	1: 135,267,026		probably benign	Het
Ryr1	T	C	7: 29,104,298	T643A	probably damaging	Het
Ryr2	A	T	13: 11,945,945	C36S	probably damaging	Het
Shc3	G	T	13: 51,442,769	T406N	probably benign	Het
Slit3	G	T	11: 35,688,593	G1199V	probably damaging	Het
Sptbn5	G	A	2: 120,050,120		noncoding transcript	Het
St8sia6	T	C	2: 13,665,442	N236D	probably damaging	Het
Stpg1	A	T	4: 135,506,416	Q3L	probably benign	Het
Sult3a1	T	A	10: 33,866,554	I59N	probably damaging	Het
Svs1	T	C	6: 48,987,492	S145P	probably damaging	Het
Vmn1r208	T	G	13: 22,772,788	I180L	probably benign	Het
Vmn2r51	A	T	7: 10,098,320	N446K	probably damaging	Het
Vmn2r63	A	T	7: 42,903,978	I618N	probably damaging	Het
Zfp296	G	T	7: 19,579,712	C164F	possibly damaging	Het
Zmynd8	A	G	2: 165,834,951	V249A	possibly damaging	Het
Zswim2	A	G	2: 83,925,227	L110P	probably damaging	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
R0538:Wrn	UTSW	8	33336091	missense	probably damaging	0.99
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
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'- CAGAACTCCCGTGAGAACTC -3'
(R):5'- TCTGTGCTCACGCTGTGAAC -3'

Sequencing Primer
(F):5'- CACCTAAGACTACTTACAGATGAGG -3'
(R):5'- GCTCACGCTGTGAACATATAAATATG -3'

Posted On

2016-04-15