Mutagenetix > Incidental Mutation

Incidental Mutation 'R0744:Wrn'

70856

Institutional Source

Beutler Lab

Gene Symbol

Wrn

Ensembl Gene

ENSMUSG00000031583

Gene Name

Werner syndrome RecQ like helicase

Synonyms

MMRRC Submission

038925-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.385) question?

Stock #

R0744 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

33234384-33385527 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 33295006 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 446 (I446T)

Ref Sequence

ENSEMBL: ENSMUSP00000147379 (fasta)

Gene Model

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

AlphaFold

O09053

Predicted Effect

possibly damaging
Transcript: ENSMUST00000033990
AA Change: I689T

PolyPhen 2 Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000033990
Gene: ENSMUSG00000031583
AA Change: I689T

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

possibly damaging
Transcript: ENSMUST00000033991
AA Change: I689T

PolyPhen 2 Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000033991
Gene: ENSMUSG00000031583
AA Change: I689T

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

possibly damaging
Transcript: ENSMUST00000211498
AA Change: I446T

PolyPhen 2 Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)

Meta Mutation Damage Score

0.2107

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 94.8%

Validation Efficiency

98% (91/93)

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: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700113H08Rik	T	C	10: 87,165,069	L41P	probably damaging	Het
A930003A15Rik	T	C	16: 19,883,872		noncoding transcript	Het
Abca8a	A	T	11: 110,040,564	D1253E	possibly damaging	Het
Acsm3	T	C	7: 119,777,100	I350T	possibly damaging	Het
Adcy9	T	C	16: 4,419,271	D92G	possibly damaging	Het
Aebp2	T	G	6: 140,642,364		probably null	Het
AI987944	T	C	7: 41,376,859	Y6C	probably damaging	Het
Ascc3	T	C	10: 50,845,666	W2072R	probably benign	Het
Asxl3	A	G	18: 22,516,040	D362G	probably damaging	Het
Baiap2l1	T	A	5: 144,266,641	D479V	probably benign	Het
Bdp1	A	T	13: 100,035,825	H2094Q	probably benign	Het
Bptf	C	A	11: 107,110,812		probably null	Het
Camk4	G	T	18: 32,939,454	S20I	unknown	Het
Ccdc36	A	T	9: 108,404,801	C563S	probably benign	Het
Ccdc85a	T	A	11: 28,583,296	I83F	probably damaging	Het
Ccnt2	T	A	1: 127,802,394	M336K	probably benign	Het
Cd209e	G	T	8: 3,853,205	D62E	probably benign	Het
Cd226	A	C	18: 89,207,020		probably benign	Het
Clip1	T	C	5: 123,630,721	D605G	probably benign	Het
Crtc1	A	G	8: 70,393,013	V306A	probably benign	Het
D130043K22Rik	G	A	13: 24,863,580		probably benign	Het
Dmxl1	T	C	18: 49,833,148	V20A	probably damaging	Het
Dzip3	A	G	16: 48,959,675	Y301H	probably damaging	Het
Ephb4	T	A	5: 137,365,667	N600K	probably damaging	Het
Erich6	T	A	3: 58,636,122		probably benign	Het
Fbn1	T	C	2: 125,314,814		probably benign	Het
Fryl	A	T	5: 73,089,081		probably benign	Het
Galnt17	T	A	5: 131,150,916	D131V	probably damaging	Het
Gm13089	A	T	4: 143,698,486	M129K	probably benign	Het
Gm597	A	G	1: 28,777,821	S377P	possibly damaging	Het
Gm6619	T	A	6: 131,490,334	L54Q	probably damaging	Het
Herc2	T	C	7: 56,206,036		probably benign	Het
Hic1	T	A	11: 75,165,801	Q754L	possibly damaging	Het
Hnf4g	A	T	3: 3,651,629	D286V	possibly damaging	Het
Itgb5	A	G	16: 33,900,583	K339R	probably damaging	Het
Itih1	A	T	14: 30,941,555	V164E	probably damaging	Het
Jak3	A	C	8: 71,683,978	N643T	probably damaging	Het
Lamp1	T	A	8: 13,172,654	F279L	probably damaging	Het
Lrfn5	A	C	12: 61,839,668	T81P	probably damaging	Het
Lrrc58	A	G	16: 37,878,573		probably benign	Het
March6	T	C	15: 31,480,291	Y562C	probably benign	Het
Mark1	T	A	1: 184,921,608	I166F	probably damaging	Het
Mark2	A	G	19: 7,285,824	Y193H	probably damaging	Het
Mast4	C	G	13: 102,737,387	Q1632H	probably damaging	Het
Mcrs1	T	C	15: 99,243,449		probably benign	Het
Mgst3	A	G	1: 167,373,805	Y104H	probably damaging	Het
Mlxipl	C	T	5: 135,132,475	T416I	possibly damaging	Het
Mthfd2l	T	C	5: 90,946,942	V90A	probably damaging	Het
Mtnr1a	A	T	8: 45,087,937	I312F	probably benign	Het
Muc1	C	A	3: 89,230,328	P159Q	possibly damaging	Het
Myom2	A	T	8: 15,132,924	K1454*	probably null	Het
Myt1	TGAGGAGGAGGAGGAGGAGG	TGAGGAGGAGGAGGAGG	2: 181,797,505		probably benign	Het
Olfr1513	T	C	14: 52,349,378	I223V	probably benign	Het
Olfr329-ps	T	A	11: 58,543,162	M105L	possibly damaging	Het
Olfr504	T	C	7: 108,564,998	T266A	possibly damaging	Het
Olfr629	T	C	7: 103,740,925	H105R	probably damaging	Het
Olfr905	A	T	9: 38,472,785	I13F	probably benign	Het
Pdcd6	A	G	13: 74,316,324		probably benign	Het
Ppp1r16a	C	T	15: 76,693,669	Q328*	probably null	Het
Pzp	A	G	6: 128,516,195		probably benign	Het
Rab27b	T	C	18: 69,987,041		probably benign	Het
Rapgef3	G	A	15: 97,761,585		probably benign	Het
Rapsn	T	C	2: 91,036,808	Y152H	probably damaging	Het
Rgs11	T	A	17: 26,203,318	M29K	probably damaging	Het
Rictor	A	G	15: 6,764,278		probably null	Het
Rif1	GCCACCA	GCCA	2: 52,110,324		probably benign	Het
Rims1	T	C	1: 22,427,459		probably null	Het
Samd9l	T	C	6: 3,372,725	E1512G	possibly damaging	Het
Sgsm1	C	T	5: 113,279,184	A127T	probably benign	Het
Slc22a28	T	C	19: 8,116,833	Y245C	possibly damaging	Het
Slc25a1	T	A	16: 17,927,436	H78L	probably benign	Het
Slc26a1	T	A	5: 108,673,523	T167S	probably benign	Het
Slc2a12	T	C	10: 22,702,016		probably benign	Het
Slc44a5	T	C	3: 154,265,474	S654P	probably damaging	Het
Slc51a	T	A	16: 32,475,849	T306S	probably benign	Het
Slc6a13	T	G	6: 121,302,867	W67G	probably damaging	Het
Sowahc	GGGAGGAGGAGGAGGAGGAGGAGGAGGA	GGGAGGAGGAGGAGGAGGAGGAGGA	10: 59,223,491		probably benign	Het
Sp100	A	T	1: 85,699,744	I86L	probably damaging	Het
Supt20	T	A	3: 54,714,701	Y409N	probably damaging	Het
Synrg	C	T	11: 84,024,305	Q1046*	probably null	Het
Tab2	T	C	10: 7,907,581		probably benign	Het
Tcof1	T	C	18: 60,845,832	D48G	probably damaging	Het
Tex24	A	T	8: 27,344,720	H92L	possibly damaging	Het
Tgm6	T	C	2: 130,151,761	V640A	probably benign	Het
Tle2	T	C	10: 81,588,947	F667L	probably damaging	Het
Tnfaip3	C	A	10: 19,002,949	A704S	probably benign	Het
Tomm34	T	C	2: 164,070,976	N22D	probably benign	Het
Trabd2b	A	G	4: 114,580,322	Q232R	probably benign	Het
Trim62	A	G	4: 128,884,215	S16G	probably damaging	Het
Ttc28	T	A	5: 111,231,081	I1144N	probably damaging	Het
Unc5a	C	A	13: 55,003,933	N56K	possibly damaging	Het
Ush2a	C	T	1: 188,814,406		probably benign	Het
Zbed5	T	A	5: 129,902,272	V354E	possibly damaging	Het
Zfp266	G	A	9: 20,499,799	H361Y	probably damaging	Het

Other mutations in Wrn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00659:Wrn	APN	8	33322377	splice site	probably benign
IGL00661:Wrn	APN	8	33319145	splice site	probably benign
IGL01472:Wrn	APN	8	33329172	missense	possibly damaging	0.93
IGL01544:Wrn	APN	8	33324526	missense	probably benign	0.00
IGL01599:Wrn	APN	8	33241011	missense	possibly damaging	0.69
IGL01688:Wrn	APN	8	33310702	splice site	probably benign
IGL01916:Wrn	APN	8	33257224	missense	possibly damaging	0.78
IGL01925:Wrn	APN	8	33319180	missense	probably benign	0.42
IGL02068:Wrn	APN	8	33310749	missense	probably benign	0.38
IGL02084:Wrn	APN	8	33285179	missense	probably benign
IGL02167:Wrn	APN	8	33317555	missense	probably damaging	1.00
IGL02230:Wrn	APN	8	33317563	missense	probably damaging	1.00
IGL02717:Wrn	APN	8	33343573	missense	probably damaging	1.00
IGL02982:Wrn	APN	8	33343066	missense	probably damaging	1.00
IGL03030:Wrn	APN	8	33248961	missense	possibly damaging	0.94
IGL03088:Wrn	APN	8	33268823	splice site	probably benign
IGL03179:Wrn	APN	8	33310706	splice site	probably null
IGL03306:Wrn	APN	8	33336121	missense	probably damaging	1.00
R0004:Wrn	UTSW	8	33317560	missense	probably damaging	1.00
R0190:Wrn	UTSW	8	33240983	missense	probably benign	0.02
R0441:Wrn	UTSW	8	33268750	missense	probably benign	0.24
R0463:Wrn	UTSW	8	33280815	missense	possibly damaging	0.84
R0538:Wrn	UTSW	8	33336091	missense	probably damaging	0.99
R0682:Wrn	UTSW	8	33267820	missense	probably benign	0.00
R0729:Wrn	UTSW	8	33248918	splice site	probably null
R0836:Wrn	UTSW	8	33295006	missense	possibly damaging	0.91
R1168:Wrn	UTSW	8	33316408	missense	probably damaging	1.00
R1301:Wrn	UTSW	8	33292686	missense	probably damaging	1.00
R1352:Wrn	UTSW	8	33294916	missense	probably benign	0.25
R1396:Wrn	UTSW	8	33268819	missense	probably damaging	1.00
R1432:Wrn	UTSW	8	33319141	splice site	probably benign
R1523:Wrn	UTSW	8	33292716	missense	probably benign	0.23
R1625:Wrn	UTSW	8	33329130	missense	probably benign	0.01
R1664:Wrn	UTSW	8	33280766	splice site	probably null
R1773:Wrn	UTSW	8	33343561	missense	probably damaging	1.00
R1864:Wrn	UTSW	8	33288864	missense	probably damaging	0.99
R1868:Wrn	UTSW	8	33257221	missense	probably benign	0.03
R2011:Wrn	UTSW	8	33236404	missense	probably benign	0.02
R2075:Wrn	UTSW	8	33322329	missense	probably benign	0.00
R2091:Wrn	UTSW	8	33267825	missense	probably benign
R2213:Wrn	UTSW	8	33257015	missense	probably benign	0.05
R2255:Wrn	UTSW	8	33329202	missense	probably benign	0.13
R2276:Wrn	UTSW	8	33324556	missense	probably benign	0.02
R3177:Wrn	UTSW	8	33317554	missense	probably damaging	1.00
R3277:Wrn	UTSW	8	33317554	missense	probably damaging	1.00
R3779:Wrn	UTSW	8	33241020	missense	probably damaging	1.00
R3827:Wrn	UTSW	8	33324520	missense	probably benign	0.00
R4111:Wrn	UTSW	8	33352155	missense	probably benign	0.02
R4392:Wrn	UTSW	8	33251832	missense	probably damaging	0.99
R4458:Wrn	UTSW	8	33294998	missense	probably damaging	0.99
R4650:Wrn	UTSW	8	33255509	missense	probably benign	0.05
R4656:Wrn	UTSW	8	33335991	splice site	probably null
R4657:Wrn	UTSW	8	33335991	splice site	probably null
R4667:Wrn	UTSW	8	33324338	missense	probably benign	0.00
R4735:Wrn	UTSW	8	33285222	missense	probably damaging	1.00
R4933:Wrn	UTSW	8	33322343	missense	probably benign	0.01
R5104:Wrn	UTSW	8	33267867	splice site	probably null
R5166:Wrn	UTSW	8	33352072	critical splice donor site	probably null
R5279:Wrn	UTSW	8	33241101	missense	probably damaging	1.00
R5400:Wrn	UTSW	8	33294917	missense	probably benign	0.02
R5575:Wrn	UTSW	8	33336130	missense	probably benign	0.02
R5695:Wrn	UTSW	8	33324318	missense	probably benign	0.26
R5729:Wrn	UTSW	8	33268778	missense	probably benign	0.02
R6044:Wrn	UTSW	8	33236429	missense	probably damaging	1.00
R6139:Wrn	UTSW	8	33353332	missense	probably damaging	1.00
R6158:Wrn	UTSW	8	33319172	missense	probably damaging	1.00
R6192:Wrn	UTSW	8	33284654	missense	probably benign	0.12
R6243:Wrn	UTSW	8	33284654	missense	possibly damaging	0.94
R6354:Wrn	UTSW	8	33343638	missense	possibly damaging	0.93
R6429:Wrn	UTSW	8	33342996	missense	probably damaging	1.00
R6490:Wrn	UTSW	8	33319220	missense	probably benign	0.01
R6529:Wrn	UTSW	8	33335976	splice site	probably null
R6535:Wrn	UTSW	8	33336103	missense	probably damaging	0.99
R7001:Wrn	UTSW	8	33352129	missense	probably benign	0.04
R7114:Wrn	UTSW	8	33285121	frame shift	probably null
R7198:Wrn	UTSW	8	33324318	missense	probably benign	0.00
R7200:Wrn	UTSW	8	33322348	missense	probably benign	0.00
R7227:Wrn	UTSW	8	33248946	missense	probably damaging	1.00
R7299:Wrn	UTSW	8	33292718	missense	probably damaging	1.00
R7374:Wrn	UTSW	8	33268911	missense	probably damaging	1.00
R7402:Wrn	UTSW	8	33248966	missense	probably benign	0.00
R7404:Wrn	UTSW	8	33248966	missense	probably benign	0.00
R7405:Wrn	UTSW	8	33248966	missense	probably benign	0.00
R7464:Wrn	UTSW	8	33335996	critical splice donor site	probably null
R7474:Wrn	UTSW	8	33329181	missense	probably damaging	0.96
R7609:Wrn	UTSW	8	33310713	missense	possibly damaging	0.50
R7729:Wrn	UTSW	8	33324426	missense	probably benign	0.21
R7830:Wrn	UTSW	8	33269054	missense	probably damaging	0.97
R7998:Wrn	UTSW	8	33292643	missense	probably benign	0.10
R8239:Wrn	UTSW	8	33329185	missense	probably damaging	1.00
R8262:Wrn	UTSW	8	33324246	missense	probably benign	0.07
R8410:Wrn	UTSW	8	33269020	missense	probably damaging	1.00
R8480:Wrn	UTSW	8	33288768	missense	probably benign	0.10
R8530:Wrn	UTSW	8	33280824	missense	possibly damaging	0.83
R8540:Wrn	UTSW	8	33352126	missense	probably damaging	0.96
R8708:Wrn	UTSW	8	33292643	missense	probably damaging	0.96
R8783:Wrn	UTSW	8	33336013	missense	probably null	1.00
R8870:Wrn	UTSW	8	33329192	missense	probably benign	0.01
R8876:Wrn	UTSW	8	33324394	missense	probably benign	0.00
R9050:Wrn	UTSW	8	33342993	missense	probably damaging	1.00
R9329:Wrn	UTSW	8	33240978	missense	probably benign
R9595:Wrn	UTSW	8	33268933	missense	probably benign
R9621:Wrn	UTSW	8	33324273	missense	probably benign	0.01
R9623:Wrn	UTSW	8	33284616	critical splice donor site	probably null
R9797:Wrn	UTSW	8	33268922	missense	probably benign	0.02
RF010:Wrn	UTSW	8	33288765	missense	probably benign	0.13
X0017:Wrn	UTSW	8	33280782	missense	probably damaging	1.00
Z1176:Wrn	UTSW	8	33334209	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- CCTCTGCCCTTGCAAAATACAAATGCT -3'
(R):5'- TGTGTCAGAAGACAGTGAGAAGTCAATG -3'

Sequencing Primer
(F):5'- agaccaagcccctaccc -3'
(R):5'- GTCAATGCGCCTTTTAAACG -3'

Posted On

2013-09-30