Mutagenetix > Incidental Mutation

Incidental Mutation 'R8262:Wrn'

639860

Institutional Source

Beutler Lab

Gene Symbol

Wrn

Ensembl Gene

ENSMUSG00000031583

Gene Name

Werner syndrome RecQ like helicase

Synonyms

MMRRC Submission

067687-MU

Accession Numbers

Essential gene?

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

Stock #

R8262 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

33724412-33875555 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 33814274 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 390 (I390N)

Ref Sequence

ENSEMBL: ENSMUSP00000033990 (fasta)

Gene Model

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

AlphaFold

O09053

PDB Structure

structure of mouse WRN exonuclease domain [X-RAY DIFFRACTION]
structure of mouse werner exonuclease domain [X-RAY DIFFRACTION]

Predicted Effect

probably benign
Transcript: ENSMUST00000033990
AA Change: I390N

PolyPhen 2 Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000033990
Gene: ENSMUSG00000031583
AA Change: I390N

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: I390N

PolyPhen 2 Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000033991
Gene: ENSMUSG00000031583
AA Change: I390N

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: I147N

PolyPhen 2 Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.1%

Validation Efficiency

98% (58/59)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aass	T	C	6: 23,107,709 (GRCm39)	D358G	possibly damaging	Het
Adam26a	A	T	8: 44,022,178 (GRCm39)	C437*	probably null	Het
Arhgap10	A	T	8: 78,037,468 (GRCm39)	C587S	probably benign	Het
Bank1	G	A	3: 135,948,721 (GRCm39)	T285I	probably benign	Het
Bhlha15	C	T	5: 144,128,257 (GRCm39)	S123L	probably damaging	Het
Cacul1	T	C	19: 60,517,475 (GRCm39)	*305W	probably null	Het
Cep112	A	C	11: 108,393,977 (GRCm39)	K365T	probably damaging	Het
Chrm1	T	A	19: 8,656,453 (GRCm39)	L386Q	probably damaging	Het
Cnbp	C	A	6: 87,822,194 (GRCm39)	R110L	probably damaging	Het
Cntnap5a	A	T	1: 116,116,140 (GRCm39)	I541F	possibly damaging	Het
Dscaml1	T	G	9: 45,658,438 (GRCm39)		probably benign	Het
Enpp3	C	T	10: 24,653,824 (GRCm39)	S711N	probably damaging	Het
Eps8	G	T	6: 137,459,252 (GRCm39)	N750K	probably benign	Het
Fan1	G	T	7: 64,023,054 (GRCm39)	N66K	probably benign	Het
Fbf1	G	A	11: 116,044,845 (GRCm39)	T323I	probably benign	Het
Flg2	A	T	3: 93,127,517 (GRCm39)	N2143I	unknown	Het
Fn3k	A	C	11: 121,339,744 (GRCm39)	T169P	probably benign	Het
Fubp1	T	G	3: 151,926,356 (GRCm39)	I320R	probably damaging	Het
Gfpt2	A	T	11: 49,714,607 (GRCm39)	E335D	probably benign	Het
Gm17472	T	C	6: 42,957,968 (GRCm39)	I79T	probably benign	Het
Gpr151	C	A	18: 42,711,437 (GRCm39)	E414*	probably null	Het
Gpr179	G	A	11: 97,226,983 (GRCm39)	S1724L	probably benign	Het
Gtf2h3	C	A	5: 124,728,967 (GRCm39)	Y175*	probably null	Het
Hal	T	A	10: 93,328,369 (GRCm39)	I215N	probably damaging	Het
Htt	A	G	5: 35,053,304 (GRCm39)	T2546A	probably benign	Het
Ighv1-11	T	C	12: 114,576,077 (GRCm39)	Y46C	probably damaging	Het
Lcn4	T	C	2: 26,558,375 (GRCm39)	D170G	probably benign	Het
Lrch1	T	A	14: 75,055,935 (GRCm39)	D306V	probably damaging	Het
Mtcl1	A	C	17: 66,650,653 (GRCm39)	V1604G	probably damaging	Het
Or10g3b	T	C	14: 52,586,625 (GRCm39)	N293D	probably damaging	Het
Or3a10	A	G	11: 73,935,926 (GRCm39)	L58P	probably damaging	Het
Or4c108	T	G	2: 88,803,552 (GRCm39)	S228R	probably damaging	Het
Or4k49	T	G	2: 111,494,587 (GRCm39)	N5K	possibly damaging	Het
Or9i1b	G	A	19: 13,897,226 (GRCm39)	V281I	probably benign	Het
Ormdl2	A	G	10: 128,654,837 (GRCm39)	L125P	possibly damaging	Het
Pcnx3	C	T	19: 5,715,412 (GRCm39)	G1946E	probably damaging	Het
Pde3a	T	A	6: 141,433,527 (GRCm39)	F803Y	possibly damaging	Het
Pnpla7	C	T	2: 24,873,635 (GRCm39)	R214W	probably damaging	Het
Prtg	T	C	9: 72,813,520 (GRCm39)	V960A	probably benign	Het
Ptgdr	T	C	14: 45,090,858 (GRCm39)	E300G	probably benign	Het
Ptpru	G	T	4: 131,522,274 (GRCm39)	Y710*	probably null	Het
Pxdn	T	A	12: 30,049,195 (GRCm39)	Y620*	probably null	Het
Pycard	T	C	7: 127,592,797 (GRCm39)	D10G	possibly damaging	Het
Sh3d21	G	T	4: 126,055,775 (GRCm39)	Q160K	probably benign	Het
Slc26a7	G	A	4: 14,621,269 (GRCm39)	P39L	probably benign	Het
Snrnp200	T	A	2: 127,068,928 (GRCm39)	Y936N	probably damaging	Het
Sox8	T	C	17: 25,786,617 (GRCm39)	D362G	possibly damaging	Het
Tcp11	T	G	17: 28,286,001 (GRCm39)	N538T	probably damaging	Het
Tent2	T	C	13: 93,310,997 (GRCm39)		probably benign	Het
Tmem132e	A	C	11: 82,325,666 (GRCm39)	E222A	probably benign	Het
Trpc7	T	C	13: 56,937,602 (GRCm39)	E618G	probably benign	Het
Tsc2	G	T	17: 24,833,340 (GRCm39)	Q695K	probably benign	Het
Txlnb	C	A	10: 17,718,752 (GRCm39)	L528M	possibly damaging	Het
Vmn1r176	A	G	7: 23,534,878 (GRCm39)	Y92H	probably benign	Het
Vmn2r85	T	A	10: 130,254,738 (GRCm39)	I649F	probably damaging	Het
Vwa8	T	C	14: 79,171,272 (GRCm39)		probably null	Het
Zfp493	T	A	13: 67,934,976 (GRCm39)	C310S	probably damaging	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
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
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'- ATGCCTGTAAATCAAAGGACCC -3'
(R):5'- TCAGAGGATTCAGCTGCTGC -3'

Sequencing Primer
(F):5'- GTGGATCTCACAAGTTAACATGGCC -3'
(R):5'- CAGATTGGAAAACATAGTACTTTTGC -3'

Posted On

2020-07-28