Incidental Mutation 'R2075:Wrn'
ID 227525
Institutional Source Beutler Lab
Gene Symbol Wrn
Ensembl Gene ENSMUSG00000031583
Gene Name Werner syndrome RecQ like helicase
Synonyms
MMRRC Submission 040080-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.301) question?
Stock # R2075 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 33724412-33875555 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 33812357 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Leucine at position 187 (I187L)
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: I430L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000033990
Gene: ENSMUSG00000031583
AA Change: I430L

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 benign
Transcript: ENSMUST00000033991
AA Change: I430L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000033991
Gene: ENSMUSG00000031583
AA Change: I430L

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209293
Predicted Effect probably benign
Transcript: ENSMUST00000211498
AA Change: I187L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.0%
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T C 11: 9,472,382 (GRCm39) F4263L probably damaging Het
Aebp2 G A 6: 140,579,420 (GRCm39) S219N probably benign Het
Anln C A 9: 22,244,464 (GRCm39) W1083L probably benign Het
Atic T A 1: 71,615,286 (GRCm39) D438E probably benign Het
Bahcc1 G A 11: 120,162,515 (GRCm39) C271Y probably damaging Het
Btbd17 A T 11: 114,682,778 (GRCm39) probably null Het
Ccdc122 T C 14: 77,306,391 (GRCm39) probably null Het
Ccdc149 A G 5: 52,596,510 (GRCm39) L34P probably damaging Het
Cd22 C G 7: 30,569,123 (GRCm39) C637S probably damaging Het
Ces1a T A 8: 93,774,703 (GRCm39) N12Y probably benign Het
Chmp1a A T 8: 123,934,761 (GRCm39) M65K probably damaging Het
Clec16a G A 16: 10,559,480 (GRCm39) A918T probably benign Het
Clec2m C T 6: 129,303,666 (GRCm39) E100K probably benign Het
Cnot1 G T 8: 96,466,461 (GRCm39) T1592K possibly damaging Het
Ddx10 A T 9: 53,151,805 (GRCm39) D73E probably benign Het
Dhx32 T C 7: 133,323,021 (GRCm39) N731S probably benign Het
Dmd G C X: 83,356,089 (GRCm39) A2257P probably benign Het
Dna2 A G 10: 62,805,601 (GRCm39) Q946R probably benign Het
Dnai4 G A 4: 102,907,390 (GRCm39) T632M probably damaging Het
Duox2 T A 2: 122,125,639 (GRCm39) S323C probably damaging Het
Esr2 A G 12: 76,212,221 (GRCm39) probably null Het
Fbxo9 G T 9: 77,991,798 (GRCm39) H397N possibly damaging Het
Fsip2 T A 2: 82,818,923 (GRCm39) N4885K possibly damaging Het
Gm12695 T C 4: 96,612,182 (GRCm39) Y527C possibly damaging Het
Hivep1 A G 13: 42,309,794 (GRCm39) D678G probably damaging Het
Hmcn1 T A 1: 150,453,074 (GRCm39) I5414F possibly damaging Het
Hspb2 T C 9: 50,662,646 (GRCm39) Y67C probably benign Het
Kbtbd8 T A 6: 95,103,664 (GRCm39) C438S possibly damaging Het
Kif5a T C 10: 127,081,238 (GRCm39) D232G probably damaging Het
Ky A G 9: 102,419,945 (GRCm39) S651G probably damaging Het
Lgals12 T C 19: 7,576,210 (GRCm39) D238G possibly damaging Het
Lpcat3 T A 6: 124,680,066 (GRCm39) Y380N probably damaging Het
Mdn1 A G 4: 32,716,058 (GRCm39) H2080R probably benign Het
Mex3c C T 18: 73,722,840 (GRCm39) S311L probably benign Het
Mlh3 A T 12: 85,315,915 (GRCm39) Y90* probably null Het
Mpped2 T A 2: 106,575,147 (GRCm39) Y77* probably null Het
Myo5a A T 9: 75,097,200 (GRCm39) T49S probably benign Het
Nsd1 T C 13: 55,458,313 (GRCm39) V2142A possibly damaging Het
Or4a74 A G 2: 89,439,822 (GRCm39) V208A probably benign Het
Or51b17 T A 7: 103,542,127 (GRCm39) I272F probably damaging Het
Or51i2 T A 7: 103,689,180 (GRCm39) M59K probably damaging Het
Or5ac19 T C 16: 59,089,274 (GRCm39) Y252C possibly damaging Het
Pdgfra T C 5: 75,348,609 (GRCm39) I883T probably damaging Het
Pdzd2 A G 15: 12,385,905 (GRCm39) L955P probably damaging Het
Phf24 A G 4: 42,939,507 (GRCm39) Y333C possibly damaging Het
Phlpp2 T C 8: 110,655,124 (GRCm39) S605P possibly damaging Het
Piezo2 C T 18: 63,214,805 (GRCm39) E1263K probably damaging Het
Pitrm1 A G 13: 6,605,419 (GRCm39) T149A probably damaging Het
Pkhd1l1 G T 15: 44,422,035 (GRCm39) A3102S probably damaging Het
Plch2 A T 4: 155,074,366 (GRCm39) L754Q probably damaging Het
Polr2c A G 8: 95,590,195 (GRCm39) I267V probably benign Het
Potefam1 T C 2: 111,030,763 (GRCm39) E382G probably damaging Het
Prss8 C A 7: 127,526,266 (GRCm39) R148L possibly damaging Het
Ptpn2 T A 18: 67,814,545 (GRCm39) T155S probably damaging Het
Ptprn2 G A 12: 117,211,337 (GRCm39) V839I probably benign Het
Sbp A G 17: 24,164,132 (GRCm39) probably null Het
Sec16a A G 2: 26,330,251 (GRCm39) I588T probably damaging Het
Six2 A G 17: 85,994,933 (GRCm39) S150P probably damaging Het
Slc5a5 C T 8: 71,345,083 (GRCm39) G75R possibly damaging Het
Slc6a20b T A 9: 123,424,099 (GRCm39) T623S probably benign Het
Sqle T A 15: 59,195,750 (GRCm39) V342E probably damaging Het
Stk3 T C 15: 34,959,195 (GRCm39) M256V possibly damaging Het
Tek A G 4: 94,715,966 (GRCm39) I463V probably benign Het
Tex10 C T 4: 48,456,800 (GRCm39) R637Q probably benign Het
Tnc G A 4: 63,913,903 (GRCm39) T1303M possibly damaging Het
Traf6 A C 2: 101,527,398 (GRCm39) I383L probably benign Het
Tubb3 C T 8: 124,148,009 (GRCm39) A314V probably damaging Het
Vmn1r199 A T 13: 22,567,435 (GRCm39) Y243F probably damaging Het
Vmn2r111 A C 17: 22,778,043 (GRCm39) N545K probably damaging Het
Vmn2r27 T A 6: 124,177,510 (GRCm39) Q498L possibly damaging Het
Vstm4 A T 14: 32,639,811 (GRCm39) S229C probably damaging Het
Wdr12 C T 1: 60,130,222 (GRCm39) R63Q possibly damaging Het
Xirp2 A T 2: 67,340,545 (GRCm39) I929L probably benign Het
Ywhae T A 11: 75,655,486 (GRCm39) D252E probably benign Het
Zfp944 A T 17: 22,558,178 (GRCm39) C356* 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
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'- TACACCTAAGACTACTTACAGATGAGG -3'
(R):5'- TCTGTGCTCACGCTGTGAAC -3'

Sequencing Primer
(F):5'- TAAGACTACTTACAGATGAGGACATG -3'
(R):5'- GCTCACGCTGTGAACATATAAATATG -3'
Posted On 2014-09-17