Incidental Mutation 'R7137:Wrnip1'
ID 553145
Institutional Source Beutler Lab
Gene Symbol Wrnip1
Ensembl Gene ENSMUSG00000021400
Gene Name Werner helicase interacting protein 1
Synonyms 4833444L21Rik, WHIP
MMRRC Submission 045248-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7137 (G1)
Quality Score 112.008
Status Not validated
Chromosome 13
Chromosomal Location 32986021-33006592 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 32986732 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 171 (D171G)
Ref Sequence ENSEMBL: ENSMUSP00000021832 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021832] [ENSMUST00000057911]
AlphaFold Q91XU0
Predicted Effect probably benign
Transcript: ENSMUST00000021832
AA Change: D171G

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000021832
Gene: ENSMUSG00000021400
AA Change: D171G

DomainStartEndE-ValueType
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: V34A
SMART Domains Protein: ENSMUSP00000050235
Gene: ENSMUSG00000042874
AA Change: V34A

DomainStartEndE-ValueType
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
Meta Mutation Damage Score 0.1081 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
Validation Efficiency
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m T C 6: 121,654,944 (GRCm39) S1423P possibly damaging Het
Acvr1c A G 2: 58,173,399 (GRCm39) probably null Het
Adgrf5 A G 17: 43,761,788 (GRCm39) K1161R probably damaging Het
Aoc1l3 A G 6: 48,967,083 (GRCm39) Y677C probably damaging Het
Arhgap32 T G 9: 32,063,232 (GRCm39) D80E probably benign Het
Aspg T C 12: 112,078,632 (GRCm39) V30A possibly damaging Het
Bcl2a1d T C 9: 88,613,531 (GRCm39) D81G probably damaging Het
Cep170b T C 12: 112,701,601 (GRCm39) V160A probably benign Het
Ces1c T C 8: 93,857,470 (GRCm39) Y37C probably benign Het
Cntnap5a T C 1: 116,017,106 (GRCm39) L233P probably damaging Het
Crem C A 18: 3,273,459 (GRCm39) A245S possibly damaging Het
Cyp2d12 C T 15: 82,442,022 (GRCm39) A280V probably benign Het
Dnah2 C T 11: 69,382,381 (GRCm39) G1243D probably damaging Het
Eif1ad19 A T 12: 87,740,316 (GRCm39) L81Q possibly damaging Het
Emcn T G 3: 137,109,752 (GRCm39) N131K probably damaging Het
Fat3 A T 9: 15,908,444 (GRCm39) D2519E probably damaging Het
Fibin T A 2: 110,193,001 (GRCm39) D47V probably damaging Het
Fsd1 G A 17: 56,300,876 (GRCm39) R245H probably damaging Het
Gimap8 C A 6: 48,627,187 (GRCm39) L54I probably damaging Het
Gm20481 A G 17: 35,189,071 (GRCm39) Y27C unknown Het
Grin1 T G 2: 25,203,550 (GRCm39) M154L probably benign Het
Ighv8-13 A G 12: 115,729,197 (GRCm39) L20P probably damaging Het
Insc G A 7: 114,410,850 (GRCm39) V236I probably benign Het
Lrrk1 A G 7: 65,935,027 (GRCm39) F1031L probably benign Het
Man2a2 C A 7: 80,009,499 (GRCm39) R785L probably benign Het
Mcur1 C A 13: 43,697,931 (GRCm39) probably null Het
Med12l A C 3: 59,165,675 (GRCm39) R1464S probably damaging Het
Mycbp2 A T 14: 103,520,115 (GRCm39) M767K possibly damaging Het
Naalad2 T C 9: 18,234,783 (GRCm39) I762V probably benign Het
Nfkbid A G 7: 30,125,681 (GRCm39) T357A possibly damaging Het
Pcdh17 A G 14: 84,770,989 (GRCm39) R1156G possibly damaging Het
Pcdhb1 T C 18: 37,400,445 (GRCm39) S799P possibly damaging Het
Pde3a A T 6: 141,444,472 (GRCm39) E1093D probably benign Het
Plcg1 T C 2: 160,595,846 (GRCm39) Y572H possibly damaging Het
Plxna4 A G 6: 32,494,199 (GRCm39) L139P probably damaging Het
Psma1 A G 7: 113,873,683 (GRCm39) Y6H probably damaging Het
Psmd2 A G 16: 20,471,377 (GRCm39) E76G probably benign Het
Ptk2 G A 15: 73,093,658 (GRCm39) P854S possibly damaging Het
Pyy T G 11: 101,998,099 (GRCm39) D27A possibly damaging Het
Slc22a2 A G 17: 12,803,228 (GRCm39) T21A probably benign Het
Slc25a2 T C 18: 37,771,200 (GRCm39) I110V probably benign Het
Sult1c2 A C 17: 54,145,422 (GRCm39) W85G probably damaging Het
Syt12 C T 19: 4,503,978 (GRCm39) D218N probably damaging Het
Tln1 C T 4: 43,540,616 (GRCm39) V1462M probably damaging Het
Tor1aip2 T A 1: 155,927,722 (GRCm39) N33K possibly damaging Het
Usp17lb C A 7: 104,490,798 (GRCm39) W43L probably benign Het
Vmn1r76 A G 7: 11,664,612 (GRCm39) Y201H possibly damaging Het
Wnk1 C A 6: 120,015,173 (GRCm39) probably benign Het
Zar1 T A 5: 72,738,159 (GRCm39) N81I probably damaging Het
Zbtb45 T C 7: 12,741,083 (GRCm39) T392A probably benign Het
Zfp445 T C 9: 122,683,843 (GRCm39) E272G probably damaging 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
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
R9000:Wrnip1 UTSW 13 32,986,711 (GRCm39) missense probably damaging 0.99
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
(F):5'- ATCAATTCGCACCTGGACC -3'
(R):5'- TGTCTGGACGCATCTTGTCAG -3'

Sequencing Primer
(F):5'- AAGAGGCGTCGACTGTCG -3'
(R):5'- ACGCATCTTGTCAGCCAGC -3'
Posted On 2019-05-15