Incidental Mutation 'R9000:Wrnip1'
ID 684933
Institutional Source Beutler Lab
Gene Symbol Wrnip1
Ensembl Gene ENSMUSG00000021400
Gene Name Werner helicase interacting protein 1
Synonyms 4833444L21Rik, WHIP
MMRRC Submission 068831-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9000 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 32986021-33006592 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 32986711 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 164 (E164G)
Ref Sequence ENSEMBL: ENSMUSP00000021832 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021832] [ENSMUST00000057911]
AlphaFold Q91XU0
Predicted Effect probably damaging
Transcript: ENSMUST00000021832
AA Change: E164G

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000021832
Gene: ENSMUSG00000021400
AA Change: E164G

ZnF_Rad18 17 40 4.76e-10 SMART
low complexity region 90 110 N/A INTRINSIC
low complexity region 135 156 N/A INTRINSIC
low complexity region 158 183 N/A INTRINSIC
AAA 255 375 9.86e-16 SMART
Pfam:AAA_assoc_2 413 506 6.4e-26 PFAM
Pfam:MgsA_C 507 659 3.9e-61 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000057911
AA Change: L41P
SMART Domains Protein: ENSMUSP00000050235
Gene: ENSMUSG00000042874
AA Change: L41P

low complexity region 10 23 N/A INTRINSIC
low complexity region 37 46 N/A INTRINSIC
low complexity region 49 59 N/A INTRINSIC
transmembrane domain 93 115 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000229351
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 90% (55/61)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Werner's syndrome is a rare autosomal recessive disorder characterized by accelerated aging that is caused by defects in the Werner syndrome ATP-dependent helicase gene (WRN). The protein encoded by this gene interacts with the exonuclease-containing N-terminal portion of the Werner protein. This protein has a ubiquitin-binding zinc-finger domain in the N-terminus, an ATPase domain, and two leucine zipper motifs in the C-terminus. It has sequence similarity to replication factor C family proteins and is conserved from E. coli to human. This protein likely accumulates at sites of DNA damage by interacting with polyubiquinated proteins and also binds to DNA polymerase delta and increases the initiation frequency of DNA polymerase delta-mediated DNA synthesis. This protein also interacts with nucleoporins at nuclear pore complexes. Two transcript variants encoding different isoforms have been isolated for this gene. [provided by RefSeq, Jul 2012]
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 T C 1: 71,353,195 (GRCm39) N749S probably damaging Het
Acsl5 T C 19: 55,283,943 (GRCm39) *684Q probably null Het
Actr5 A T 2: 158,478,610 (GRCm39) T487S probably benign Het
Adam18 T A 8: 25,127,162 (GRCm39) H478L probably benign Het
Adam5 A T 8: 25,294,372 (GRCm39) probably null Het
Adamts3 T C 5: 89,854,570 (GRCm39) N475S probably benign Het
Akap9 G A 5: 4,105,650 (GRCm39) R2907H probably benign Het
Anapc1 A G 2: 128,476,628 (GRCm39) V1330A probably damaging Het
Arhgef37 A T 18: 61,637,333 (GRCm39) M443K possibly damaging Het
Atp13a1 T A 8: 70,254,725 (GRCm39) H753Q probably damaging Het
C2cd3 A G 7: 100,065,281 (GRCm39) H311R Het
Cdh23 A G 10: 60,140,277 (GRCm39) Y3222H possibly damaging Het
Ces2f A G 8: 105,677,661 (GRCm39) D222G probably benign Het
Cnot9 C T 1: 74,561,544 (GRCm39) R130C probably benign Het
Cntnap2 G A 6: 46,461,139 (GRCm39) probably benign Het
Daam2 A G 17: 49,769,197 (GRCm39) L932P probably damaging Het
Dgki T C 6: 37,074,643 (GRCm39) probably benign Het
Dync1h1 A C 12: 110,606,397 (GRCm39) Q2489P probably benign Het
Elovl2 A G 13: 41,338,810 (GRCm39) L280S probably benign Het
Fat1 C A 8: 45,497,587 (GRCm39) Y4357* probably null Het
Fat3 T A 9: 15,871,816 (GRCm39) Q3525L possibly damaging Het
Fat3 T C 9: 15,918,095 (GRCm39) I1443V probably benign Het
Fzd1 A G 5: 4,806,211 (GRCm39) I457T probably damaging Het
Kcnq5 G T 1: 21,557,483 (GRCm39) F332L probably damaging Het
Meiob A G 17: 25,047,916 (GRCm39) probably benign Het
Mrgprb4 A G 7: 47,848,769 (GRCm39) L53P probably damaging Het
Myt1l G A 12: 29,901,740 (GRCm39) V832I unknown Het
Nckap5l G A 15: 99,321,310 (GRCm39) P1186S probably damaging Het
Ndufa4l2 A T 10: 127,350,898 (GRCm39) R16S probably benign Het
Nrg2 T C 18: 36,151,682 (GRCm39) Y620C probably damaging Het
Or4p4b-ps1 T A 2: 88,454,525 (GRCm39) *293R probably null Het
Or52a24 T C 7: 103,381,672 (GRCm39) S180P probably damaging Het
Pip4k2a T G 2: 18,877,240 (GRCm39) Y165S possibly damaging Het
Plcd4 T A 1: 74,601,024 (GRCm39) C500* probably null Het
Plcl1 C T 1: 55,736,990 (GRCm39) P777L probably damaging Het
Pnliprp2 T C 19: 58,762,555 (GRCm39) Y387H probably benign Het
Prdm15 A T 16: 97,595,470 (GRCm39) D1119E probably benign Het
Prss51 T C 14: 64,332,420 (GRCm39) S36P possibly damaging Het
Prune1 A G 3: 95,162,635 (GRCm39) V346A probably benign Het
Saxo5 T C 8: 3,526,083 (GRCm39) S79P possibly damaging Het
Scn5a T C 9: 119,321,171 (GRCm39) T1464A possibly damaging Het
Sh2b1 GGGG GGGGCCCAGCTCAGCCACAGGG 7: 126,066,743 (GRCm39) probably benign Het
Sim1 T G 10: 50,860,316 (GRCm39) I726S probably benign Het
Sim1 T G 10: 50,860,317 (GRCm39) I726M possibly damaging Het
Slc38a4 G A 15: 96,897,475 (GRCm39) P447S possibly damaging Het
Slc5a12 A G 2: 110,454,525 (GRCm39) E362G probably damaging Het
Slc5a8 C A 10: 88,762,089 (GRCm39) N576K probably benign Het
Slc5a8 T A 10: 88,762,090 (GRCm39) Y577N probably benign Het
Snn A G 16: 10,890,322 (GRCm39) E47G probably damaging Het
Snx19 T C 9: 30,375,619 (GRCm39) V207A unknown Het
Srcap G A 7: 127,130,943 (GRCm39) V720I possibly damaging Het
Syn3 T A 10: 85,893,489 (GRCm39) R451S unknown Het
Tdrp A G 8: 14,003,989 (GRCm39) V116A probably benign Het
Tef G A 15: 81,695,773 (GRCm39) M1I probably null Het
Vmn1r232 T C 17: 21,134,111 (GRCm39) K163R probably damaging Het
Zcchc14 T G 8: 122,336,880 (GRCm39) H178P unknown Het
Zfp37 T G 4: 62,126,651 (GRCm39) K69T unknown Het
Zfp947 A G 17: 22,365,161 (GRCm39) L171P probably benign Het
Other mutations in Wrnip1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00089:Wrnip1 APN 13 33,000,312 (GRCm39) missense probably damaging 1.00
IGL02608:Wrnip1 APN 13 32,990,857 (GRCm39) missense probably damaging 1.00
IGL02947:Wrnip1 APN 13 33,006,053 (GRCm39) missense probably damaging 1.00
R0028:Wrnip1 UTSW 13 33,004,280 (GRCm39) missense probably damaging 1.00
R0131:Wrnip1 UTSW 13 32,990,847 (GRCm39) missense probably damaging 0.98
R0212:Wrnip1 UTSW 13 33,005,889 (GRCm39) missense probably benign 0.45
R0545:Wrnip1 UTSW 13 32,990,796 (GRCm39) missense probably damaging 1.00
R0638:Wrnip1 UTSW 13 33,005,073 (GRCm39) missense possibly damaging 0.82
R1650:Wrnip1 UTSW 13 32,989,362 (GRCm39) missense probably benign 0.02
R1894:Wrnip1 UTSW 13 32,989,319 (GRCm39) critical splice acceptor site probably null
R2176:Wrnip1 UTSW 13 33,004,223 (GRCm39) missense probably damaging 1.00
R2371:Wrnip1 UTSW 13 32,986,410 (GRCm39) missense probably benign
R2475:Wrnip1 UTSW 13 32,990,941 (GRCm39) missense probably benign 0.30
R3122:Wrnip1 UTSW 13 32,986,744 (GRCm39) missense probably benign 0.06
R4247:Wrnip1 UTSW 13 32,990,866 (GRCm39) missense probably damaging 1.00
R4604:Wrnip1 UTSW 13 32,986,330 (GRCm39) missense probably damaging 1.00
R4978:Wrnip1 UTSW 13 33,000,295 (GRCm39) missense probably damaging 1.00
R5109:Wrnip1 UTSW 13 33,000,319 (GRCm39) missense probably damaging 1.00
R5148:Wrnip1 UTSW 13 32,990,839 (GRCm39) missense probably damaging 1.00
R5929:Wrnip1 UTSW 13 32,990,949 (GRCm39) missense probably damaging 1.00
R6750:Wrnip1 UTSW 13 32,986,739 (GRCm39) missense probably damaging 0.99
R7137:Wrnip1 UTSW 13 32,986,732 (GRCm39) missense probably benign 0.01
R7142:Wrnip1 UTSW 13 32,986,616 (GRCm39) missense possibly damaging 0.51
R7378:Wrnip1 UTSW 13 33,000,264 (GRCm39) missense probably benign 0.33
R7468:Wrnip1 UTSW 13 33,000,360 (GRCm39) missense possibly damaging 0.80
R7470:Wrnip1 UTSW 13 33,000,310 (GRCm39) nonsense probably null
R8049:Wrnip1 UTSW 13 33,005,960 (GRCm39) missense probably benign
R8260:Wrnip1 UTSW 13 32,989,339 (GRCm39) missense possibly damaging 0.80
X0019:Wrnip1 UTSW 13 32,990,749 (GRCm39) missense probably damaging 1.00
X0027:Wrnip1 UTSW 13 32,986,707 (GRCm39) unclassified probably benign
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2021-10-11