Mutagenetix > Incidental Mutation

Incidental Mutation 'R0004:Wrn'

32391

Institutional Source

Beutler Lab

Gene Symbol

Wrn

Ensembl Gene

ENSMUSG00000031583

Gene Name

Werner syndrome RecQ like helicase

Synonyms

MMRRC Submission

038300-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.301) question?

Stock #

R0004 (G1)

Quality Score

163

Status

Validated (trace)

Chromosome

Chromosomal Location

33724412-33875555 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 33807588 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 290 (V290D)

Ref Sequence

ENSEMBL: ENSMUSP00000147379 (fasta)

Gene Model

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

AlphaFold

O09053

Predicted Effect

probably damaging
Transcript: ENSMUST00000033990
AA Change: V533D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000033990
Gene: ENSMUSG00000031583
AA Change: V533D

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: V533D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000033991
Gene: ENSMUSG00000031583
AA Change: V533D

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 damaging
Transcript: ENSMUST00000211498
AA Change: V290D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 95.1%

Validation Efficiency

98% (63/64)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adal	T	C	2: 120,982,966 (GRCm39)	I86T	probably damaging	Het
Aff3	T	C	1: 38,308,807 (GRCm39)	D376G	possibly damaging	Het
Akap11	A	T	14: 78,752,380 (GRCm39)	H164Q	possibly damaging	Het
Akap12	A	T	10: 4,303,220 (GRCm39)	D10V	probably damaging	Het
Arhgap32	T	C	9: 32,063,294 (GRCm39)	V101A	probably damaging	Het
Atm	A	T	9: 53,364,828 (GRCm39)		probably benign	Het
Ccdc18	A	G	5: 108,309,566 (GRCm39)	D387G	possibly damaging	Het
Ccdc38	A	T	10: 93,409,964 (GRCm39)	Q261L	probably damaging	Het
Cd180	T	G	13: 102,839,216 (GRCm39)	V33G	probably benign	Het
Cd207	G	A	6: 83,651,230 (GRCm39)	Q242*	probably null	Het
Cnp	T	C	11: 100,467,633 (GRCm39)	F192S	probably damaging	Het
Colec10	G	T	15: 54,274,271 (GRCm39)	R33L	possibly damaging	Het
Csn1s1	A	T	5: 87,819,390 (GRCm39)	M16L	probably benign	Het
Dnah10	A	T	5: 124,803,966 (GRCm39)	M98L	probably benign	Het
Dnah17	T	C	11: 117,950,918 (GRCm39)	I2902V	possibly damaging	Het
Dtnb	A	G	12: 3,646,635 (GRCm39)		probably benign	Het
Epha5	T	C	5: 84,479,701 (GRCm39)	Y101C	probably damaging	Het
Ephb2	T	A	4: 136,384,835 (GRCm39)	M860L	probably damaging	Het
Fbxw18	T	C	9: 109,530,381 (GRCm39)	T77A	probably damaging	Het
Fgfbp3	A	G	19: 36,896,082 (GRCm39)	S179P	possibly damaging	Het
Foxp2	A	G	6: 15,197,095 (GRCm39)	T45A	possibly damaging	Het
Gckr	A	T	5: 31,454,933 (GRCm39)		probably benign	Het
Glce	T	A	9: 61,975,861 (GRCm39)	Q213L	probably damaging	Het
Gm1965	A	C	6: 89,123,469 (GRCm39)	H84P	unknown	Het
Hbegf	A	G	18: 36,640,559 (GRCm39)	V166A	probably damaging	Het
Helb	G	T	10: 119,944,886 (GRCm39)	H217N	probably damaging	Het
Ino80	G	A	2: 119,213,441 (GRCm39)	R1249C	probably damaging	Het
Kansl2	A	G	15: 98,418,257 (GRCm39)	L392P	probably damaging	Het
Klra1	A	T	6: 130,349,836 (GRCm39)	Y201N	probably damaging	Het
Klra3	A	G	6: 130,300,650 (GRCm39)	S240P	probably damaging	Het
Liph	T	A	16: 21,802,944 (GRCm39)	R42*	probably null	Het
Lrp1	A	T	10: 127,377,694 (GRCm39)		probably null	Het
Luc7l2	A	T	6: 38,566,169 (GRCm39)	K52M	probably damaging	Het
Mecom	G	A	3: 30,034,060 (GRCm39)	P215S	probably damaging	Het
Myo1g	T	A	11: 6,465,901 (GRCm39)	T395S	probably damaging	Het
Ndst4	T	A	3: 125,364,475 (GRCm39)	M384K	probably benign	Het
Ndufb2	C	T	6: 39,573,438 (GRCm39)	T51I	possibly damaging	Het
Nell1	C	A	7: 50,210,507 (GRCm39)		probably benign	Het
Or51k1	A	T	7: 103,661,638 (GRCm39)	N90K	probably benign	Het
Oxr1	G	A	15: 41,683,936 (GRCm39)	S434N	possibly damaging	Het
Pcdhac2	T	A	18: 37,278,290 (GRCm39)	S423R	probably benign	Het
Pcdhb10	T	A	18: 37,545,012 (GRCm39)	D29E	probably benign	Het
Pde10a	A	G	17: 9,200,408 (GRCm39)	T1053A	probably benign	Het
Pkdrej	T	A	15: 85,702,384 (GRCm39)	H1184L	probably damaging	Het
Prkaa2	C	T	4: 104,904,288 (GRCm39)	R263Q	probably null	Het
Prmt9	A	G	8: 78,282,411 (GRCm39)	I103V	possibly damaging	Het
Rbm15b	T	C	9: 106,762,135 (GRCm39)	T678A	probably benign	Het
Ryr2	T	C	13: 11,680,805 (GRCm39)	Y3180C	probably benign	Het
Scaf1	T	C	7: 44,657,094 (GRCm39)		probably benign	Het
Scn7a	T	A	2: 66,518,139 (GRCm39)	N1024I	possibly damaging	Het
Sec23b	T	C	2: 144,406,482 (GRCm39)		probably benign	Het
Sf1	C	A	19: 6,424,221 (GRCm39)	P417Q	probably damaging	Het
Slc4a3	A	T	1: 75,533,653 (GRCm39)		probably benign	Het
Stk32a	T	C	18: 43,438,121 (GRCm39)	W207R	probably damaging	Het
Syne1	A	T	10: 5,393,132 (GRCm39)		probably benign	Het
Tecta	A	T	9: 42,256,774 (GRCm39)	V1634E	possibly damaging	Het
Tenm2	A	G	11: 35,914,184 (GRCm39)	F2450S	probably damaging	Het
Tgfb1	T	C	7: 25,391,791 (GRCm39)		probably benign	Het
Tpgs2	A	G	18: 25,291,295 (GRCm39)		probably benign	Het
Washc5	A	G	15: 59,239,316 (GRCm39)	M149T	probably damaging	Het
Zbtb41	A	G	1: 139,370,626 (GRCm39)	T688A	possibly damaging	Het
Zfp560	C	T	9: 20,259,263 (GRCm39)	C533Y	probably damaging	Het
Zfp791	G	A	8: 85,837,495 (GRCm39)	A123V	probably benign	Het

Other mutations in Wrn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00659:Wrn	APN	8	33,812,405 (GRCm39)	splice site	probably benign
IGL00661:Wrn	APN	8	33,809,173 (GRCm39)	splice site	probably benign
IGL01472:Wrn	APN	8	33,819,200 (GRCm39)	missense	possibly damaging	0.93
IGL01544:Wrn	APN	8	33,814,554 (GRCm39)	missense	probably benign	0.00
IGL01599:Wrn	APN	8	33,731,039 (GRCm39)	missense	possibly damaging	0.69
IGL01688:Wrn	APN	8	33,800,730 (GRCm39)	splice site	probably benign
IGL01916:Wrn	APN	8	33,747,252 (GRCm39)	missense	possibly damaging	0.78
IGL01925:Wrn	APN	8	33,809,208 (GRCm39)	missense	probably benign	0.42
IGL02068:Wrn	APN	8	33,800,777 (GRCm39)	missense	probably benign	0.38
IGL02084:Wrn	APN	8	33,775,207 (GRCm39)	missense	probably benign
IGL02167:Wrn	APN	8	33,807,583 (GRCm39)	missense	probably damaging	1.00
IGL02230:Wrn	APN	8	33,807,591 (GRCm39)	missense	probably damaging	1.00
IGL02717:Wrn	APN	8	33,833,601 (GRCm39)	missense	probably damaging	1.00
IGL02982:Wrn	APN	8	33,833,094 (GRCm39)	missense	probably damaging	1.00
IGL03030:Wrn	APN	8	33,738,989 (GRCm39)	missense	possibly damaging	0.94
IGL03088:Wrn	APN	8	33,758,851 (GRCm39)	splice site	probably benign
IGL03179:Wrn	APN	8	33,800,734 (GRCm39)	splice site	probably null
IGL03306:Wrn	APN	8	33,826,149 (GRCm39)	missense	probably damaging	1.00
R0190:Wrn	UTSW	8	33,731,011 (GRCm39)	missense	probably benign	0.02
R0441:Wrn	UTSW	8	33,758,778 (GRCm39)	missense	probably benign	0.24
R0463:Wrn	UTSW	8	33,770,843 (GRCm39)	missense	possibly damaging	0.84
R0538:Wrn	UTSW	8	33,826,119 (GRCm39)	missense	probably damaging	0.99
R0682:Wrn	UTSW	8	33,757,848 (GRCm39)	missense	probably benign	0.00
R0729:Wrn	UTSW	8	33,738,946 (GRCm39)	splice site	probably null
R0744:Wrn	UTSW	8	33,785,034 (GRCm39)	missense	possibly damaging	0.91
R0836:Wrn	UTSW	8	33,785,034 (GRCm39)	missense	possibly damaging	0.91
R1168:Wrn	UTSW	8	33,806,436 (GRCm39)	missense	probably damaging	1.00
R1301:Wrn	UTSW	8	33,782,714 (GRCm39)	missense	probably damaging	1.00
R1352:Wrn	UTSW	8	33,784,944 (GRCm39)	missense	probably benign	0.25
R1396:Wrn	UTSW	8	33,758,847 (GRCm39)	missense	probably damaging	1.00
R1432:Wrn	UTSW	8	33,809,169 (GRCm39)	splice site	probably benign
R1523:Wrn	UTSW	8	33,782,744 (GRCm39)	missense	probably benign	0.23
R1625:Wrn	UTSW	8	33,819,158 (GRCm39)	missense	probably benign	0.01
R1664:Wrn	UTSW	8	33,770,794 (GRCm39)	splice site	probably null
R1773:Wrn	UTSW	8	33,833,589 (GRCm39)	missense	probably damaging	1.00
R1864:Wrn	UTSW	8	33,778,892 (GRCm39)	missense	probably damaging	0.99
R1868:Wrn	UTSW	8	33,747,249 (GRCm39)	missense	probably benign	0.03
R2011:Wrn	UTSW	8	33,726,432 (GRCm39)	missense	probably benign	0.02
R2075:Wrn	UTSW	8	33,812,357 (GRCm39)	missense	probably benign	0.00
R2091:Wrn	UTSW	8	33,757,853 (GRCm39)	missense	probably benign
R2213:Wrn	UTSW	8	33,747,043 (GRCm39)	missense	probably benign	0.05
R2255:Wrn	UTSW	8	33,819,230 (GRCm39)	missense	probably benign	0.13
R2276:Wrn	UTSW	8	33,814,584 (GRCm39)	missense	probably benign	0.02
R3177:Wrn	UTSW	8	33,807,582 (GRCm39)	missense	probably damaging	1.00
R3277:Wrn	UTSW	8	33,807,582 (GRCm39)	missense	probably damaging	1.00
R3779:Wrn	UTSW	8	33,731,048 (GRCm39)	missense	probably damaging	1.00
R3827:Wrn	UTSW	8	33,814,548 (GRCm39)	missense	probably benign	0.00
R4111:Wrn	UTSW	8	33,842,183 (GRCm39)	missense	probably benign	0.02
R4392:Wrn	UTSW	8	33,741,860 (GRCm39)	missense	probably damaging	0.99
R4458:Wrn	UTSW	8	33,785,026 (GRCm39)	missense	probably damaging	0.99
R4650:Wrn	UTSW	8	33,745,537 (GRCm39)	missense	probably benign	0.05
R4656:Wrn	UTSW	8	33,826,019 (GRCm39)	splice site	probably null
R4657:Wrn	UTSW	8	33,826,019 (GRCm39)	splice site	probably null
R4667:Wrn	UTSW	8	33,814,366 (GRCm39)	missense	probably benign	0.00
R4735:Wrn	UTSW	8	33,775,250 (GRCm39)	missense	probably damaging	1.00
R4933:Wrn	UTSW	8	33,812,371 (GRCm39)	missense	probably benign	0.01
R5104:Wrn	UTSW	8	33,757,895 (GRCm39)	splice site	probably null
R5166:Wrn	UTSW	8	33,842,100 (GRCm39)	critical splice donor site	probably null
R5279:Wrn	UTSW	8	33,731,129 (GRCm39)	missense	probably damaging	1.00
R5400:Wrn	UTSW	8	33,784,945 (GRCm39)	missense	probably benign	0.02
R5575:Wrn	UTSW	8	33,826,158 (GRCm39)	missense	probably benign	0.02
R5695:Wrn	UTSW	8	33,814,346 (GRCm39)	missense	probably benign	0.26
R5729:Wrn	UTSW	8	33,758,806 (GRCm39)	missense	probably benign	0.02
R6044:Wrn	UTSW	8	33,726,457 (GRCm39)	missense	probably damaging	1.00
R6139:Wrn	UTSW	8	33,843,360 (GRCm39)	missense	probably damaging	1.00
R6158:Wrn	UTSW	8	33,809,200 (GRCm39)	missense	probably damaging	1.00
R6192:Wrn	UTSW	8	33,774,682 (GRCm39)	missense	probably benign	0.12
R6243:Wrn	UTSW	8	33,774,682 (GRCm39)	missense	possibly damaging	0.94
R6354:Wrn	UTSW	8	33,833,666 (GRCm39)	missense	possibly damaging	0.93
R6429:Wrn	UTSW	8	33,833,024 (GRCm39)	missense	probably damaging	1.00
R6490:Wrn	UTSW	8	33,809,248 (GRCm39)	missense	probably benign	0.01
R6529:Wrn	UTSW	8	33,826,004 (GRCm39)	splice site	probably null
R6535:Wrn	UTSW	8	33,826,131 (GRCm39)	missense	probably damaging	0.99
R7001:Wrn	UTSW	8	33,842,157 (GRCm39)	missense	probably benign	0.04
R7114:Wrn	UTSW	8	33,775,149 (GRCm39)	frame shift	probably null
R7198:Wrn	UTSW	8	33,814,346 (GRCm39)	missense	probably benign	0.00
R7200:Wrn	UTSW	8	33,812,376 (GRCm39)	missense	probably benign	0.00
R7227:Wrn	UTSW	8	33,738,974 (GRCm39)	missense	probably damaging	1.00
R7299:Wrn	UTSW	8	33,782,746 (GRCm39)	missense	probably damaging	1.00
R7374:Wrn	UTSW	8	33,758,939 (GRCm39)	missense	probably damaging	1.00
R7402:Wrn	UTSW	8	33,738,994 (GRCm39)	missense	probably benign	0.00
R7404:Wrn	UTSW	8	33,738,994 (GRCm39)	missense	probably benign	0.00
R7405:Wrn	UTSW	8	33,738,994 (GRCm39)	missense	probably benign	0.00
R7464:Wrn	UTSW	8	33,826,024 (GRCm39)	critical splice donor site	probably null
R7474:Wrn	UTSW	8	33,819,209 (GRCm39)	missense	probably damaging	0.96
R7609:Wrn	UTSW	8	33,800,741 (GRCm39)	missense	possibly damaging	0.50
R7729:Wrn	UTSW	8	33,814,454 (GRCm39)	missense	probably benign	0.21
R7830:Wrn	UTSW	8	33,759,082 (GRCm39)	missense	probably damaging	0.97
R7998:Wrn	UTSW	8	33,782,671 (GRCm39)	missense	probably benign	0.10
R8239:Wrn	UTSW	8	33,819,213 (GRCm39)	missense	probably damaging	1.00
R8262:Wrn	UTSW	8	33,814,274 (GRCm39)	missense	probably benign	0.07
R8410:Wrn	UTSW	8	33,759,048 (GRCm39)	missense	probably damaging	1.00
R8480:Wrn	UTSW	8	33,778,796 (GRCm39)	missense	probably benign	0.10
R8530:Wrn	UTSW	8	33,770,852 (GRCm39)	missense	possibly damaging	0.83
R8540:Wrn	UTSW	8	33,842,154 (GRCm39)	missense	probably damaging	0.96
R8708:Wrn	UTSW	8	33,782,671 (GRCm39)	missense	probably damaging	0.96
R8783:Wrn	UTSW	8	33,826,041 (GRCm39)	missense	probably null	1.00
R8870:Wrn	UTSW	8	33,819,220 (GRCm39)	missense	probably benign	0.01
R8876:Wrn	UTSW	8	33,814,422 (GRCm39)	missense	probably benign	0.00
R9050:Wrn	UTSW	8	33,833,021 (GRCm39)	missense	probably damaging	1.00
R9329:Wrn	UTSW	8	33,731,006 (GRCm39)	missense	probably benign
R9595:Wrn	UTSW	8	33,758,961 (GRCm39)	missense	probably benign
R9621:Wrn	UTSW	8	33,814,301 (GRCm39)	missense	probably benign	0.01
R9623:Wrn	UTSW	8	33,774,644 (GRCm39)	critical splice donor site	probably null
R9797:Wrn	UTSW	8	33,758,950 (GRCm39)	missense	probably benign	0.02
RF010:Wrn	UTSW	8	33,778,793 (GRCm39)	missense	probably benign	0.13
X0017:Wrn	UTSW	8	33,770,810 (GRCm39)	missense	probably damaging	1.00
Z1176:Wrn	UTSW	8	33,824,237 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- GCAAGCATTACTTACTCAAGCTGGAGG -3'
(R):5'- TGGCAACTCATGGTTATTCAGTCAGTC -3'

Sequencing Primer
(F):5'- ATGACAATGCCAATCTTGCCTG -3'
(R):5'- TGAACTTGTGCTTTGGATGC -3'

Posted On

2013-05-09