Mutagenetix > Incidental Mutation

Incidental Mutation 'R7198:Wrn'

560083

Institutional Source

Beutler Lab

Gene Symbol

Wrn

Ensembl Gene

ENSMUSG00000031583

Gene Name

Werner syndrome RecQ like helicase

Synonyms

MMRRC Submission

045337-MU

Accession Numbers

Essential gene?

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

Stock #

R7198 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

33724412-33875555 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 33814346 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 366 (G366D)

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: G366D

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000033990
Gene: ENSMUSG00000031583
AA Change: G366D

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: G366D

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000033991
Gene: ENSMUSG00000031583
AA Change: G366D

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: G123D

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

98% (62/63)

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
Abca8a	C	T	11: 109,969,481 (GRCm39)	S365N	probably damaging	Het
Baiap3	G	A	17: 25,462,814 (GRCm39)	R1075C	probably benign	Het
Baz2b	A	G	2: 59,792,550 (GRCm39)	L526P	probably benign	Het
Bbs1	A	T	19: 4,945,043 (GRCm39)	L376Q	probably damaging	Het
Bcl9	T	A	3: 97,112,511 (GRCm39)	M1315L	possibly damaging	Het
Bcl9	T	C	3: 97,116,183 (GRCm39)	Q837R	probably damaging	Het
Cct2	A	G	10: 116,889,029 (GRCm39)	V490A	probably benign	Het
Cdh23	T	C	10: 60,148,378 (GRCm39)	Y2663C	possibly damaging	Het
Chit1	A	G	1: 134,078,229 (GRCm39)	K346E	possibly damaging	Het
Chl1	A	G	6: 103,683,517 (GRCm39)	Y781C	probably damaging	Het
Col12a1	A	C	9: 79,557,314 (GRCm39)	L1938R	possibly damaging	Het
Cpxm2	T	A	7: 131,681,813 (GRCm39)	N239Y	probably damaging	Het
Cyp3a41b	A	G	5: 145,519,330 (GRCm39)	Y54H	probably benign	Het
Dclk1	A	C	3: 55,385,296 (GRCm39)	D369A	possibly damaging	Het
Dnai4	A	G	4: 102,919,610 (GRCm39)	V498A	probably damaging	Het
Dpy19l3	T	C	7: 35,449,190 (GRCm39)	N71S	possibly damaging	Het
Efcab3	T	A	11: 104,642,711 (GRCm39)	N1111K	probably benign	Het
Fer	T	A	17: 64,228,683 (GRCm39)	V186E	possibly damaging	Het
Gm11042	T	A	12: 74,361,888 (GRCm39)	H39L	unknown	Het
Gm14325	A	G	2: 177,473,798 (GRCm39)	I428T	probably benign	Het
Gm47995	A	G	1: 151,074,404 (GRCm39)	E69G	possibly damaging	Het
Gm6176	T	A	7: 21,750,596 (GRCm39)	I112F	probably damaging	Het
Hivep2	T	A	10: 14,005,710 (GRCm39)	D769E	probably benign	Het
Hsdl1	C	T	8: 120,294,607 (GRCm39)	V40I	probably benign	Het
Ipmk	A	G	10: 71,183,882 (GRCm39)	H34R	probably damaging	Het
Kcnd3	T	C	3: 105,366,856 (GRCm39)	L242P	probably damaging	Het
Kdm4d	T	C	9: 14,375,316 (GRCm39)	M181V	probably damaging	Het
Lats2	A	T	14: 57,934,582 (GRCm39)	I716N	probably damaging	Het
Liph	T	C	16: 21,784,772 (GRCm39)	Y305C	probably damaging	Het
Ltbp1	T	C	17: 75,533,962 (GRCm39)	V150A	possibly damaging	Het
Ly6d	A	T	15: 74,634,384 (GRCm39)	S69T	probably benign	Het
Meltf	A	G	16: 31,702,617 (GRCm39)	R115G	possibly damaging	Het
Msgn1	G	T	12: 11,258,902 (GRCm39)	D16E	probably benign	Het
Mthfd2l	T	A	5: 91,094,705 (GRCm39)	I58K	probably damaging	Het
Mup18	G	C	4: 61,591,573 (GRCm39)		probably null	Het
Nek10	T	A	14: 14,850,947 (GRCm38)	W331R	probably damaging	Het
Nphp3	A	G	9: 103,881,974 (GRCm39)	Y148C	probably damaging	Het
Or4a47	T	C	2: 89,666,076 (GRCm39)	Y71C	probably damaging	Het
Or5h19	C	T	16: 58,856,456 (GRCm39)	V215I	probably benign	Het
Or6c33	T	A	10: 129,853,760 (GRCm39)	C177S	probably damaging	Het
Oscp1	A	G	4: 125,980,459 (GRCm39)	T325A	possibly damaging	Het
Pcdha4	T	A	18: 37,086,613 (GRCm39)	N265K	probably damaging	Het
Pigq	C	T	17: 26,153,199 (GRCm39)	V331I	probably benign	Het
Plekhg4	A	G	8: 106,105,329 (GRCm39)	E598G	probably damaging	Het
Pou6f2	G	A	13: 18,303,748 (GRCm39)	T120M	probably damaging	Het
Psg27	T	A	7: 18,295,726 (GRCm39)	T240S	probably damaging	Het
Samd12	T	A	15: 53,723,649 (GRCm39)	I15F	probably damaging	Het
Scaf4	A	T	16: 90,049,318 (GRCm39)	D256E	unknown	Het
Scaf8	T	A	17: 3,213,373 (GRCm39)	M154K	unknown	Het
Slc27a1	T	C	8: 72,032,071 (GRCm39)	V64A	possibly damaging	Het
Smc5	G	A	19: 23,237,064 (GRCm39)	R256*	probably null	Het
Snx31	A	G	15: 36,555,455 (GRCm39)	F31L	probably benign	Het
Spag17	T	C	3: 100,002,888 (GRCm39)	S1871P	probably benign	Het
Tdpoz4	T	G	3: 93,704,662 (GRCm39)	S320A	probably benign	Het
Tmprss11c	A	T	5: 86,379,691 (GRCm39)	C406S	probably damaging	Het
Tnip1	G	A	11: 54,808,630 (GRCm39)	A519V	probably benign	Het
Tssc4	T	A	7: 142,624,724 (GRCm39)		probably null	Het
Uba3	A	T	6: 97,182,512 (GRCm39)	M1K	probably null	Het
Usp32	GAACAAGTCCACAACAA	GAACAA	11: 84,913,681 (GRCm39)		probably null	Het
Wnt11	T	C	7: 98,496,588 (GRCm39)	M176T	possibly damaging	Het
Xylt1	T	A	7: 117,255,807 (GRCm39)	I793N	probably damaging	Het
Zfp677	T	G	17: 21,618,679 (GRCm39)	C579G	probably damaging	Het
Zscan4-ps1	T	A	7: 10,799,626 (GRCm39)	K421M	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
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'- AGGTCACAGTATGGATGCCTG -3'
(R):5'- TGAGACTAGACTGAAGCCGG -3'

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

Posted On

2019-06-26