Mutagenetix > Incidental Mutation

Incidental Mutation 'R5400:Wrn'

429939

Institutional Source

Beutler Lab

Gene Symbol

Wrn

Ensembl Gene

ENSMUSG00000031583

Gene Name

Werner syndrome RecQ like helicase

Synonyms

MMRRC Submission

042971-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.291) question?

Stock #

R5400 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

33234384-33385527 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 33294917 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 476 (V476I)

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: V719I

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000033990
Gene: ENSMUSG00000031583
AA Change: V719I

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: V719I

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000033991
Gene: ENSMUSG00000031583
AA Change: V719I

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

probably benign
Transcript: ENSMUST00000211498
AA Change: V476I

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

Meta Mutation Damage Score

0.0607

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.3%

Validation Efficiency

98% (64/65)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330182L06Rik	A	T	5: 9,479,247	N1027Y	probably damaging	Het
Accsl	T	C	2: 93,859,422	D380G	probably damaging	Het
Afm	T	C	5: 90,551,398	L567P	possibly damaging	Het
AI481877	A	G	4: 59,082,432	S399P	possibly damaging	Het
Anks1b	A	T	10: 90,512,824	I785L	probably damaging	Het
Arpc5l	G	A	2: 39,013,735	G79S	probably benign	Het
Arvcf	G	T	16: 18,399,070	R440L	probably benign	Het
Atm	T	C	9: 53,503,018	D924G	probably damaging	Het
Atp8b1	A	T	18: 64,545,989		probably null	Het
Cd19	C	T	7: 126,414,452	G55D	probably benign	Het
Cd34	A	G	1: 194,938,958		probably benign	Het
Cd69	T	A	6: 129,269,991	M88L	probably benign	Het
Ces2h	A	G	8: 105,018,425	E397G	probably benign	Het
Ddx60	T	C	8: 62,010,002	F1306L	possibly damaging	Het
Dennd5b	T	C	6: 149,000,016	E1124G	probably damaging	Het
Dio1	A	T	4: 107,306,988	M44K	probably damaging	Het
En1	A	G	1: 120,603,595	D188G	probably damaging	Het
Epha10	C	T	4: 124,914,121		probably benign	Het
Fam120b	A	T	17: 15,403,126	L455F	possibly damaging	Het
Flt4	AC	ACC	11: 49,651,034		probably null	Het
Gm38394	G	A	1: 133,658,141	T486I	probably damaging	Het
Incenp	A	G	19: 9,877,675		probably null	Het
Kansl3	A	G	1: 36,358,149	V86A	possibly damaging	Het
Klhl7	C	G	5: 24,126,920	F73L	probably damaging	Het
Med28	T	A	5: 45,525,199	V69D	probably damaging	Het
Mknk1	C	A	4: 115,864,552	L98M	probably damaging	Het
Mknk1	T	A	4: 115,864,553	L98Q	probably damaging	Het
Myo3b	T	A	2: 70,105,380	C97S	probably damaging	Het
Neto1	A	G	18: 86,395,908	H9R	possibly damaging	Het
Olfr1230	T	C	2: 89,296,913	D119G	probably damaging	Het
Olfr317	T	C	11: 58,732,320	T282A	possibly damaging	Het
Olfr354	A	T	2: 36,907,821	I292F	probably damaging	Het
Olfr78	G	A	7: 102,742,430	T191I	probably benign	Het
Omd	A	T	13: 49,592,227	E371V	probably benign	Het
Osbpl9	G	T	4: 109,062,300	Y733*	probably null	Het
Pcdh12	A	T	18: 38,268,898	S91R	probably damaging	Het
Pxk	C	A	14: 8,136,911	P144Q	probably benign	Het
Qser1	A	G	2: 104,789,874	S198P	probably damaging	Het
Recql	T	G	6: 142,362,347		probably benign	Het
Reln	T	C	5: 21,979,714	D1601G	probably damaging	Het
Scn10a	T	C	9: 119,609,034	D1922G	probably damaging	Het
Scn11a	T	A	9: 119,769,908	R1185S	probably damaging	Het
Sh3bp5	C	A	14: 31,377,495	R265L	probably benign	Het
Slc13a4	A	T	6: 35,301,842	C37*	probably null	Het
Slc22a30	G	A	19: 8,344,393	Q436*	probably null	Het
Slc9a9	T	A	9: 94,712,901	F155I	probably damaging	Het
Spef2	T	A	15: 9,614,281	K1193M	probably damaging	Het
Swt1	T	C	1: 151,412,834	T80A	probably benign	Het
Tmc1	A	G	19: 20,804,602	I584T	probably damaging	Het
Tsc22d1	C	A	14: 76,417,054	F324L	probably benign	Het
Usp19	T	C	9: 108,500,193	V1236A	probably damaging	Het
Vmn2r63	T	C	7: 42,928,211	N301S	probably benign	Het
Zbtb25	C	A	12: 76,349,702	E249*	probably null	Het
Zfp54	C	A	17: 21,433,700	T152K	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
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
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
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'- TGCCCTTGCAAAATACAAATGC -3'
(R):5'- AGGTTCCAGTCATTGCACTCTC -3'

Sequencing Primer
(F):5'- CAAAGCCATGTGTCCTGGTCATG -3'
(R):5'- GCACTCTCCGCTACTGCAAG -3'

Posted On

2016-09-06