Mutagenetix > Incidental Mutation

Incidental Mutation 'R6139:Wrn'

488490

Institutional Source

Beutler Lab

Gene Symbol

Wrn

Ensembl Gene

ENSMUSG00000031583

Gene Name

Werner syndrome RecQ like helicase

Synonyms

MMRRC Submission

044286-MU

Accession Numbers

Essential gene?

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

Stock #

R6139 (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 33843360 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 14 (M14K)

Ref Sequence

ENSEMBL: ENSMUSP00000033991 (fasta)

Gene Model

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

AlphaFold

O09053

Predicted Effect

probably damaging
Transcript: ENSMUST00000033990
AA Change: M14K

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

SMART Domains

Protein: ENSMUSP00000033990
Gene: ENSMUSG00000031583
AA Change: M14K

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: M14K

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

SMART Domains

Protein: ENSMUSP00000033991
Gene: ENSMUSG00000031583
AA Change: M14K

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

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.7%

Validation Efficiency

100% (50/50)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6030468B19Rik	A	G	11: 117,697,150 (GRCm39)	T250A	probably damaging	Het
Acacb	T	C	5: 114,350,713 (GRCm39)	I1074T	probably damaging	Het
Acsl6	C	A	11: 54,231,368 (GRCm39)	P462T	probably damaging	Het
Aebp1	A	G	11: 5,821,842 (GRCm39)	D747G	probably damaging	Het
Antxr2	A	C	5: 98,125,565 (GRCm39)		probably null	Het
Arhgap35	T	C	7: 16,297,392 (GRCm39)	T558A	possibly damaging	Het
Asap1	T	A	15: 64,038,388 (GRCm39)	I223F	possibly damaging	Het
C2cd5	A	C	6: 142,980,784 (GRCm39)	D669E	probably damaging	Het
Casz1	C	T	4: 149,036,154 (GRCm39)	T1472M	probably damaging	Het
Catsper4	A	G	4: 133,945,177 (GRCm39)	L154P	probably damaging	Het
Cep350	T	C	1: 155,829,025 (GRCm39)	E293G	probably benign	Het
Cma1	T	A	14: 56,180,157 (GRCm39)		probably null	Het
Ddx42	C	T	11: 106,130,843 (GRCm39)	A439V	probably damaging	Het
Disp2	T	A	2: 118,621,143 (GRCm39)	L625Q	probably damaging	Het
Dnah1	T	C	14: 31,007,984 (GRCm39)	D2141G	probably benign	Het
Dsp	T	C	13: 38,376,382 (GRCm39)	I1389T	probably damaging	Het
Fam81a	A	T	9: 70,010,100 (GRCm39)		probably null	Het
Fsip2	A	G	2: 82,821,388 (GRCm39)	D5707G	possibly damaging	Het
Gcnt4	G	A	13: 97,083,360 (GRCm39)	V219I	probably benign	Het
Gk2	A	G	5: 97,604,139 (GRCm39)	V233A	probably benign	Het
Grm1	T	C	10: 10,622,075 (GRCm39)		probably benign	Het
Gsap	T	A	5: 21,486,538 (GRCm39)	V649D	probably damaging	Het
Kif1b	G	A	4: 149,321,989 (GRCm39)	H977Y	possibly damaging	Het
Ktn1	T	A	14: 47,963,672 (GRCm39)		probably null	Het
Lgals12	T	A	19: 7,581,742 (GRCm39)	T29S	probably benign	Het
Me3	G	T	7: 89,282,108 (GRCm39)		probably benign	Het
Mgst3	T	G	1: 167,205,874 (GRCm39)	K35T	possibly damaging	Het
Mtmr9	T	C	14: 63,767,227 (GRCm39)	R354G	probably benign	Het
Myh11	T	C	16: 14,033,738 (GRCm39)	E1059G	probably damaging	Het
Nr4a2	T	A	2: 56,998,701 (GRCm39)	H408L	probably damaging	Het
Or56b35	A	T	7: 104,963,453 (GRCm39)	T81S	probably damaging	Het
Or5ak23	A	T	2: 85,244,690 (GRCm39)	F178I	probably damaging	Het
Pds5b	T	A	5: 150,724,242 (GRCm39)	L1275Q	possibly damaging	Het
Pfkfb4	A	G	9: 108,856,825 (GRCm39)	Y412C	probably damaging	Het
Pop1	T	A	15: 34,529,204 (GRCm39)	C745S	probably benign	Het
Ptpn14	T	G	1: 189,583,362 (GRCm39)	S736R	probably benign	Het
Rdh9	A	T	10: 127,612,606 (GRCm39)	T85S	possibly damaging	Het
Rnf223	T	C	4: 156,217,260 (GRCm39)	C212R	probably damaging	Het
Rnf39	A	G	17: 37,254,230 (GRCm39)	E84G	probably damaging	Het
Sfmbt1	T	A	14: 30,533,375 (GRCm39)	V584D	probably damaging	Het
Slc12a5	T	A	2: 164,834,231 (GRCm39)	S728T	probably damaging	Het
Slc16a12	T	A	19: 34,648,295 (GRCm39)		probably null	Het
Snupn	C	A	9: 56,890,108 (GRCm39)	Q310K	possibly damaging	Het
St7	T	C	6: 17,694,353 (GRCm39)	L48P	probably damaging	Het
Thsd7a	T	C	6: 12,379,572 (GRCm39)	N951D	possibly damaging	Het
Ttn	G	A	2: 76,682,413 (GRCm39)	R959*	probably null	Het
Ugt2b36	A	T	5: 87,240,030 (GRCm39)	D118E	probably benign	Het
Vmn2r7	G	A	3: 64,623,339 (GRCm39)	T327I	probably damaging	Het
Wdr70	T	C	15: 8,108,735 (GRCm39)	D137G	probably benign	Het
Xpot	T	A	10: 121,447,613 (GRCm39)	E283V	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
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
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'- CTTAGTTCTGGTTCATTCACACAAC -3'
(R):5'- TGTTTCAGGCTAGGTATCATATCCTAC -3'

Sequencing Primer
(F):5'- TCTGGTTCATTCACACAACATAAAG -3'
(R):5'- TCAGGCTAGATGCTATATCCTACAC -3'

Posted On

2017-10-10