Incidental Mutation 'R7464:Wrn'
ID 578638
Institutional Source Beutler Lab
Gene Symbol Wrn
Ensembl Gene ENSMUSG00000031583
Gene Name Werner syndrome RecQ like helicase
Synonyms
MMRRC Submission 045538-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.301) question?
Stock # R7464 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 33724412-33875555 bp(-) (GRCm39)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) C to T at 33826024 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000033990 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033990] [ENSMUST00000033991]
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 null
Transcript: ENSMUST00000033990
SMART Domains Protein: ENSMUSP00000033990
Gene: ENSMUSG00000031583

DomainStartEndE-ValueType
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 null
Transcript: ENSMUST00000033991
SMART Domains Protein: ENSMUSP00000033991
Gene: ENSMUSG00000031583

DomainStartEndE-ValueType
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
Meta Mutation Damage Score 0.9590 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 96% (79/82)
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: 85 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aass C T 6: 23,077,152 (GRCm39) G736R possibly damaging Het
Acta2 G A 19: 34,229,931 (GRCm39) T8I probably benign Het
Ankar A T 1: 72,738,053 (GRCm39) V43E possibly damaging Het
Apof A G 10: 128,105,505 (GRCm39) I220V probably benign Het
Asxl1 G T 2: 153,239,705 (GRCm39) A499S probably benign Het
Baz2a T A 10: 127,957,942 (GRCm39) D1069E possibly damaging Het
Baz2b T C 2: 59,807,792 (GRCm39) T156A possibly damaging Het
Bbc3 A T 7: 16,051,082 (GRCm39) R169W unknown Het
C5ar1 T A 7: 15,982,691 (GRCm39) I110L probably benign Het
Cd19 C A 7: 126,010,975 (GRCm39) R323L probably damaging Het
Cdc14b A T 13: 64,344,489 (GRCm39) C113* probably null Het
Cngb1 C A 8: 95,980,811 (GRCm39) W914L possibly damaging Het
Colgalt2 A G 1: 152,379,895 (GRCm39) K445E probably damaging Het
Crebrf A G 17: 26,982,461 (GRCm39) M608V unknown Het
Csf1 T A 3: 107,656,191 (GRCm39) H280L probably benign Het
Cyp2j11 C A 4: 96,233,357 (GRCm39) R113L probably damaging Het
D5Ertd579e G A 5: 36,771,129 (GRCm39) H1089Y probably damaging Het
Ddx60 C T 8: 62,393,708 (GRCm39) T48M possibly damaging Het
Defa40 T A 8: 21,739,910 (GRCm39) S45T probably damaging Het
Dock10 T C 1: 80,518,032 (GRCm39) D1315G probably damaging Het
Dock2 T G 11: 34,586,105 (GRCm39) N526H probably damaging Het
Dram2 T C 3: 106,480,999 (GRCm39) *268Q probably null Het
Emc8 A G 8: 121,394,657 (GRCm39) Y21H possibly damaging Het
Fam162a A G 16: 35,891,863 (GRCm39) L4P probably damaging Het
Fan1 T A 7: 64,022,234 (GRCm39) N340Y probably damaging Het
Fbxw10 T A 11: 62,744,124 (GRCm39) I307N probably benign Het
Fbxw16 A G 9: 109,268,619 (GRCm39) V257A possibly damaging Het
Fer1l6 T A 15: 58,445,096 (GRCm39) probably null Het
Galnt7 A G 8: 58,037,054 (GRCm39) Y112H possibly damaging Het
Gigyf2 T C 1: 87,356,326 (GRCm39) I803T unknown Het
Gm28729 A G 9: 96,403,288 (GRCm39) I44T possibly damaging Het
Gm5447 A G 13: 31,158,377 (GRCm39) I34V not run Het
H2-M9 A T 17: 36,953,303 (GRCm39) probably null Het
Helz G A 11: 107,527,104 (GRCm39) C864Y probably damaging Het
Il25 A G 14: 55,170,679 (GRCm39) Y84C probably null Het
Itga10 T A 3: 96,555,471 (GRCm39) C142S probably damaging Het
Kcna10 A T 3: 107,101,395 (GRCm39) M9L probably damaging Het
Klhl6 G T 16: 19,775,863 (GRCm39) Q232K possibly damaging Het
Mb21d2 T G 16: 28,748,298 (GRCm39) I40L possibly damaging Het
Mdm1 T C 10: 117,988,171 (GRCm39) S334P probably benign Het
Mllt10 T A 2: 18,175,090 (GRCm39) D549E probably benign Het
Mlxipl T C 5: 135,162,482 (GRCm39) V648A probably benign Het
Nars2 A G 7: 96,689,137 (GRCm39) K353R probably benign Het
Nav1 T A 1: 135,512,647 (GRCm39) M138L probably benign Het
Neb T C 2: 52,083,902 (GRCm39) T5635A probably benign Het
Nktr A C 9: 121,579,393 (GRCm39) I1154L unknown Het
Or14j8 A T 17: 38,263,171 (GRCm39) V248D probably damaging Het
Or2a57 T G 6: 43,213,228 (GRCm39) S229A probably damaging Het
Or4g17 T A 2: 111,209,543 (GRCm39) L66Q probably damaging Het
Oxld1 T C 11: 120,347,963 (GRCm39) D78G probably benign Het
Pde1b T C 15: 103,433,256 (GRCm39) I255T probably benign Het
Pkp4 T A 2: 59,138,481 (GRCm39) F244I probably benign Het
Polg2 C A 11: 106,664,540 (GRCm39) V305L probably benign Het
Pramel34 C T 5: 93,784,099 (GRCm39) C455Y probably damaging Het
Ptpn18 G A 1: 34,512,445 (GRCm39) D417N possibly damaging Het
Sash1 T C 10: 8,632,509 (GRCm39) D242G possibly damaging Het
Six4 T C 12: 73,159,304 (GRCm39) T219A possibly damaging Het
Slc28a3 A C 13: 58,710,835 (GRCm39) Y562* probably null Het
Soat1 A T 1: 156,266,887 (GRCm39) W310R probably damaging Het
Son CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC 16: 91,453,579 (GRCm39) probably benign Het
Spef2 T C 15: 9,740,671 (GRCm39) N30D probably benign Het
Spopfm2 A T 3: 94,083,411 (GRCm39) N133K probably benign Het
Srebf2 T A 15: 82,057,075 (GRCm39) I270N probably damaging Het
St8sia3 T C 18: 64,404,589 (GRCm39) W289R probably damaging Het
Stx5a T A 19: 8,720,868 (GRCm39) probably benign Het
Tacc1 T C 8: 25,654,480 (GRCm39) D689G probably damaging Het
Tacc3 A G 5: 33,818,628 (GRCm39) D21G probably benign Het
Tapt1 G A 5: 44,346,030 (GRCm39) R307* probably null Het
Tbc1d9b T A 11: 50,022,312 (GRCm39) V16E probably damaging Het
Tchhl1 G A 3: 93,377,971 (GRCm39) R225K probably benign Het
Thumpd3 G A 6: 113,032,730 (GRCm39) G156D probably benign Het
Tmem178 C T 17: 81,252,331 (GRCm39) P72S probably benign Het
Tmem52 C T 4: 155,553,926 (GRCm39) P46S probably benign Het
Tmem94 G T 11: 115,677,082 (GRCm39) R118L possibly damaging Het
Tulp3 A T 6: 128,303,792 (GRCm39) V269D probably benign Het
Ubr1 A G 2: 120,720,255 (GRCm39) probably null Het
Upf1 G A 8: 70,786,073 (GRCm39) S962L probably benign Het
Vcpip1 C T 1: 9,816,745 (GRCm39) R546Q probably damaging Het
Vmn2r49 A C 7: 9,722,820 (GRCm39) S151R probably benign Het
Wac T C 18: 7,871,746 (GRCm39) probably null Het
Zfp286 C A 11: 62,671,627 (GRCm39) D149Y probably benign Het
Zfp748 A G 13: 67,690,091 (GRCm39) C390R probably damaging Het
Zfp873 A G 10: 81,896,210 (GRCm39) T314A possibly damaging Het
Zfyve1 C T 12: 83,598,261 (GRCm39) D656N probably benign Het
Zmym1 T A 4: 126,952,728 (GRCm39) K18* probably null Het
Other mutations in Wrn
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- CAGGAATTGGACATCGCTTTAC -3'
(R):5'- GTGAATGTTTGCTCTGTCCC -3'

Sequencing Primer
(F):5'- GGACATCGCTTTACATCGTAATAG -3'
(R):5'- GAATGTTTGCTCTGTCCCCCTTTC -3'
Posted On 2019-10-07