Mutagenetix > Incidental Mutation

Incidental Mutation 'R1625:Wrn'

174970

Institutional Source

Beutler Lab

Gene Symbol

Wrn

Ensembl Gene

ENSMUSG00000031583

Gene Name

Werner syndrome RecQ like helicase

Synonyms

MMRRC Submission

039662-MU

Accession Numbers

Essential gene?

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

Stock #

R1625 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

33724412-33875555 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 33819158 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 22 (T22A)

Ref Sequence

ENSEMBL: ENSMUSP00000147379 (fasta)

Gene Model

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

AlphaFold

O09053

Predicted Effect

probably benign
Transcript: ENSMUST00000033990
AA Change: T265A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000033990
Gene: ENSMUSG00000031583
AA Change: T265A

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: T265A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000033991
Gene: ENSMUSG00000031583
AA Change: T265A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000211498
AA Change: T22A

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.3%
20x: 89.1%

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	T	A	11: 109,857,947 (GRCm39)	M605L	probably benign	Het
Abcc5	A	T	16: 20,184,567 (GRCm39)	S1031T	probably damaging	Het
Acot7	T	A	4: 152,270,748 (GRCm39)	C31S	probably benign	Het
Acss3	A	T	10: 106,773,263 (GRCm39)		probably null	Het
Adipor1	T	C	1: 134,351,802 (GRCm39)	F83S	possibly damaging	Het
Agrn	G	A	4: 156,257,317 (GRCm39)	S1171L	probably damaging	Het
Aoc1l1	T	A	6: 48,952,105 (GRCm39)	L10Q	probably damaging	Het
Arhgap5	T	A	12: 52,564,159 (GRCm39)	C377S	probably benign	Het
Arid4b	T	A	13: 14,361,699 (GRCm39)	V721D	probably damaging	Het
Aspm	G	A	1: 139,408,777 (GRCm39)	A2555T	probably benign	Het
Atp6v0a1	T	A	11: 100,946,380 (GRCm39)	L791Q	probably damaging	Het
Car11	A	G	7: 45,350,731 (GRCm39)	K76E	probably benign	Het
Casp8ap2	T	A	4: 32,648,068 (GRCm39)	M1925K	probably benign	Het
Cc2d1a	A	T	8: 84,866,001 (GRCm39)	L418Q	probably damaging	Het
Ccl9	G	A	11: 83,466,736 (GRCm39)	R64W	probably damaging	Het
Cfap20dc	A	G	14: 8,431,668 (GRCm38)	Y655H	probably damaging	Het
Cfap43	T	A	19: 47,739,527 (GRCm39)	K1325N	probably damaging	Het
Dars2	G	A	1: 160,881,614 (GRCm39)	P305L	possibly damaging	Het
Ddx11	C	T	17: 66,457,692 (GRCm39)	T859I	probably benign	Het
Dock7	C	T	4: 98,850,433 (GRCm39)		probably null	Het
Efcab6	A	G	15: 83,831,839 (GRCm39)	V570A	probably benign	Het
Fermt1	T	A	2: 132,764,751 (GRCm39)	I369F	probably damaging	Het
Fras1	A	G	5: 96,861,849 (GRCm39)	Y2161C	probably damaging	Het
Fras1	C	A	5: 96,857,837 (GRCm39)	P2044T	possibly damaging	Het
Gucy1a1	T	C	3: 82,009,362 (GRCm39)	I549V	probably benign	Het
Hspg2	G	A	4: 137,246,282 (GRCm39)	S1020N	probably benign	Het
Kif21a	A	G	15: 90,826,378 (GRCm39)	S1360P	probably damaging	Het
Lrp3	T	C	7: 34,903,350 (GRCm39)	Y332C	probably damaging	Het
Ltc4s	C	A	11: 50,128,215 (GRCm39)	A32S	possibly damaging	Het
Mgrn1	T	C	16: 4,728,627 (GRCm39)	L84P	probably damaging	Het
Muc2	C	G	7: 141,283,405 (GRCm39)	C672W	probably damaging	Het
Mvp	A	T	7: 126,600,845 (GRCm39)	V52E	probably damaging	Het
Ndrg2	T	C	14: 52,144,420 (GRCm39)	T269A	probably damaging	Het
Notch2	T	A	3: 98,018,891 (GRCm39)	D684E	probably damaging	Het
Nup205	A	G	6: 35,168,878 (GRCm39)	D316G	probably benign	Het
Or12e7	T	A	2: 87,288,016 (GRCm39)	I169K	probably damaging	Het
Or2v2	T	C	11: 49,004,071 (GRCm39)	M161V	probably benign	Het
Or7d11	A	G	9: 19,966,678 (GRCm39)	L27P	probably damaging	Het
Pcsk1	A	T	13: 75,274,971 (GRCm39)	D520V	probably benign	Het
Pik3cg	A	T	12: 32,244,741 (GRCm39)	D904E	probably damaging	Het
Pitpnm2	T	A	5: 124,271,496 (GRCm39)	D359V	probably benign	Het
Ppih	T	C	4: 119,175,779 (GRCm39)	I69V	probably damaging	Het
Rab11fip3	T	C	17: 26,287,865 (GRCm39)	E96G	possibly damaging	Het
Retreg3	C	A	11: 100,992,875 (GRCm39)	M1I	probably null	Het
Rfpl4	C	T	7: 5,118,409 (GRCm39)	V54I	possibly damaging	Het
Rif1	T	C	2: 51,993,652 (GRCm39)	I855T	probably benign	Het
Rrm1	T	A	7: 102,117,554 (GRCm39)	I748N	probably damaging	Het
Sap130	T	A	18: 31,807,517 (GRCm39)	N441K	probably damaging	Het
Sf3b1	T	A	1: 55,058,536 (GRCm39)	I18F	probably damaging	Het
Skor2	A	G	18: 76,946,499 (GRCm39)	N74D	unknown	Het
Slc17a6	C	A	7: 51,311,208 (GRCm39)	F307L	probably benign	Het
Slc25a13	G	A	6: 6,096,675 (GRCm39)	L410F	probably damaging	Het
Slc47a1	A	T	11: 61,262,625 (GRCm39)	V38E	probably damaging	Het
Slc8a1	T	A	17: 81,956,670 (GRCm39)	T123S	probably damaging	Het
Slc9a5	C	A	8: 106,094,755 (GRCm39)	T782K	possibly damaging	Het
Spmip7	C	A	11: 11,438,644 (GRCm39)		probably benign	Het
Sppl2c	C	A	11: 104,077,995 (GRCm39)	T265K	probably damaging	Het
Srfbp1	A	G	18: 52,621,788 (GRCm39)	K283R	probably benign	Het
Ssr1	C	T	13: 38,173,479 (GRCm39)		probably null	Het
Stard3nl	T	C	13: 19,556,754 (GRCm39)		probably null	Het
Timeless	G	T	10: 128,076,493 (GRCm39)	S134I	probably damaging	Het
Tll1	A	G	8: 64,494,476 (GRCm39)	F760L	probably damaging	Het
Tspear	A	G	10: 77,706,333 (GRCm39)	I368V	probably benign	Het
Txnrd2	G	T	16: 18,257,116 (GRCm39)	W144L	probably damaging	Het
Unc5d	T	C	8: 29,173,234 (GRCm39)	E668G	probably damaging	Het
Urb1	C	T	16: 90,570,936 (GRCm39)		probably null	Het
Uts2r	A	G	11: 121,052,033 (GRCm39)	Y299C	probably damaging	Het
Vmn1r66	G	T	7: 10,008,316 (GRCm39)	T239K	probably benign	Het
Vps39	C	T	2: 120,154,106 (GRCm39)	V630M	probably damaging	Het
Zfp7	T	A	15: 76,765,374 (GRCm39)	D22E	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
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'- ACTAGGAAGGCATACATGGTGGCAT -3'
(R):5'- GAGATCCGAGAGGGAAGTGTTCTGT -3'

Sequencing Primer
(F):5'- CTGCTCATTAGTTAGCAGCAGAC -3'
(R):5'- tctccctctctctctttctctc -3'

Posted On

2014-04-24