Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01688:Wrn'

104040

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Wrn

Ensembl Gene

ENSMUSG00000031583

Gene Name

Werner syndrome RecQ like helicase

Synonyms

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.366) question?

Stock #

IGL01688

Quality Score

Status

Chromosome

Chromosomal Location

33724412-33875555 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to C at 33800730 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000147379 (fasta)

Gene Model

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

AlphaFold

O09053

Predicted Effect

probably benign
Transcript: ENSMUST00000033990

SMART Domains

Protein: ENSMUSP00000033990
Gene: ENSMUSG00000031583

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

SMART Domains

Protein: ENSMUSP00000033991
Gene: ENSMUSG00000031583

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

Coding Region Coverage

Validation Efficiency

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700113H08Rik	T	C	10: 87,000,985 (GRCm39)	L59P	probably damaging	Het
Ccin	A	T	4: 43,984,985 (GRCm39)	E464V	possibly damaging	Het
Cfap58	A	G	19: 47,963,006 (GRCm39)	D472G	probably benign	Het
Col28a1	C	T	6: 7,998,517 (GRCm39)	E1131K	probably damaging	Het
Cpne2	A	G	8: 95,281,381 (GRCm39)	T196A	possibly damaging	Het
Cul4a	A	T	8: 13,196,571 (GRCm39)	R742*	probably null	Het
Cyp21a1	T	A	17: 35,021,194 (GRCm39)	I370F	probably damaging	Het
Ddx51	T	C	5: 110,803,513 (GRCm39)	F332L	probably benign	Het
Gm8232	A	G	14: 44,671,179 (GRCm39)	D29G	unknown	Het
Got1	A	G	19: 43,512,775 (GRCm39)		probably null	Het
Gpat4	A	G	8: 23,671,861 (GRCm39)	I58T	probably benign	Het
Hdac3	T	A	18: 38,087,932 (GRCm39)	D12V	possibly damaging	Het
Helb	T	C	10: 119,944,885 (GRCm39)	H217R	probably damaging	Het
Hpf1	A	T	8: 61,349,830 (GRCm39)	I153L	probably benign	Het
Lgsn	G	A	1: 31,243,486 (GRCm39)	D523N	probably damaging	Het
Lrrc63	A	G	14: 75,322,422 (GRCm39)	S561P	possibly damaging	Het
Myh6	G	A	14: 55,201,417 (GRCm39)	T94I	possibly damaging	Het
Mzt2	T	C	16: 15,680,793 (GRCm39)		probably benign	Het
Ndufb5	T	A	3: 32,800,613 (GRCm39)	L62*	probably null	Het
Nek1	A	T	8: 61,558,631 (GRCm39)	R970*	probably null	Het
Nepro	T	C	16: 44,556,369 (GRCm39)	L509P	probably damaging	Het
Pank1	T	A	19: 34,818,252 (GRCm39)	I96F	probably damaging	Het
Parp11	C	A	6: 127,448,569 (GRCm39)	T62K	probably benign	Het
Pla2g2e	T	A	4: 138,606,781 (GRCm39)		probably benign	Het
Plekha5	T	A	6: 140,515,115 (GRCm39)	Y207N	probably damaging	Het
Pomt2	T	A	12: 87,194,294 (GRCm39)	I37F	probably benign	Het
Prl6a1	T	A	13: 27,501,969 (GRCm39)	V117E	probably damaging	Het
Prmt3	T	A	7: 49,498,480 (GRCm39)		probably null	Het
Rcor3	T	A	1: 191,807,900 (GRCm39)	E20V	probably damaging	Het
Rere	A	G	4: 150,702,893 (GRCm39)	D1449G	probably damaging	Het
Ric1	T	C	19: 29,555,014 (GRCm39)	V376A	probably benign	Het
Rims1	G	A	1: 22,467,764 (GRCm39)	T873I	probably benign	Het
Rras2	T	C	7: 113,659,632 (GRCm39)	D44G	probably damaging	Het
Sbk2	C	T	7: 4,960,716 (GRCm39)		probably benign	Het
Slit1	A	G	19: 41,717,545 (GRCm39)	I73T	probably damaging	Het
Spice1	T	A	16: 44,205,073 (GRCm39)	M793K	probably benign	Het
Suco	T	C	1: 161,691,480 (GRCm39)		probably null	Het
Tarbp1	A	T	8: 127,174,290 (GRCm39)	W839R	probably damaging	Het
Trpc4	T	A	3: 54,173,495 (GRCm39)		probably benign	Het
Tubgcp5	T	C	7: 55,464,766 (GRCm39)	V549A	possibly damaging	Het
Ubap2	T	A	4: 41,226,308 (GRCm39)	T182S	probably benign	Het
Zc3h15	A	G	2: 83,492,536 (GRCm39)	Y337C	probably damaging	Het
Zfp292	T	A	4: 34,807,855 (GRCm39)	I1730F	possibly damaging	Het
Zfp609	A	G	9: 65,611,307 (GRCm39)	V552A	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
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
R0004:Wrn	UTSW	8	33,807,588 (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

Posted On

2014-01-21