Incidental Mutation 'IGL02608:Wrnip1'
ID300378
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Wrnip1
Ensembl Gene ENSMUSG00000021400
Gene NameWerner helicase interacting protein 1
Synonyms4833444L21Rik, WHIP
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02608
Quality Score
Status
Chromosome13
Chromosomal Location32802038-32822609 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 32806874 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Histidine at position 372 (L372H)
Ref Sequence ENSEMBL: ENSMUSP00000021832 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021832] [ENSMUST00000057911]
Predicted Effect probably damaging
Transcript: ENSMUST00000021832
AA Change: L372H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000021832
Gene: ENSMUSG00000021400
AA Change: L372H

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 probably benign
Transcript: ENSMUST00000057911
SMART Domains Protein: ENSMUSP00000050235
Gene: ENSMUSG00000042874

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 noncoding transcript
Transcript: ENSMUST00000220560
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221066
Predicted Effect probably benign
Transcript: ENSMUST00000229351
Coding Region Coverage
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aaas T A 15: 102,339,192 M415L probably benign Het
Akap6 T C 12: 53,010,606 S952P probably benign Het
Aldh3a1 A G 11: 61,216,321 R284G probably damaging Het
Aldh3b1 G T 19: 3,914,061 H414N probably damaging Het
Chd5 G A 4: 152,356,107 M141I possibly damaging Het
Cntn2 C T 1: 132,525,916 A340T possibly damaging Het
Daw1 T A 1: 83,209,334 C288* probably null Het
Dcn A G 10: 97,483,457 E32G probably damaging Het
Dock5 C T 14: 67,828,439 V372M probably benign Het
Etf1 T C 18: 34,931,617 E13G probably damaging Het
Filip1l A G 16: 57,572,106 E781G probably benign Het
Gm8989 T A 7: 106,329,669 noncoding transcript Het
Gucy1a2 A G 9: 3,635,113 I386V probably damaging Het
Hoxb5 T A 11: 96,305,143 probably benign Het
Iqch T A 9: 63,421,828 probably benign Het
Itgal C T 7: 127,310,244 P423S probably damaging Het
Kti12 T G 4: 108,848,162 L91R probably damaging Het
Lgals3 T C 14: 47,385,601 M239T probably benign Het
Lrrc8a T C 2: 30,256,299 M375T possibly damaging Het
Ly75 T C 2: 60,321,900 E1103G probably benign Het
Lyst A T 13: 13,712,754 E3056V probably damaging Het
Map3k7 T C 4: 31,981,452 probably benign Het
Ncor1 G A 11: 62,373,214 T180I probably benign Het
Nectin4 T C 1: 171,384,773 V313A probably benign Het
Nol4l A G 2: 153,436,293 S8P possibly damaging Het
Npas2 T A 1: 39,345,446 S607T probably benign Het
Nup155 T A 15: 8,109,471 M9K probably benign Het
Nwd1 T C 8: 72,667,375 L422P probably damaging Het
Olfr114 T A 17: 37,590,219 I45F probably damaging Het
Papola G T 12: 105,809,559 G245C probably damaging Het
Pcdhb6 T C 18: 37,334,694 S223P probably damaging Het
Pdcd4 T C 19: 53,927,207 probably null Het
Pigg T C 5: 108,313,003 F27L probably damaging Het
Prpf40a A T 2: 53,146,153 M588K probably damaging Het
Psme4 A G 11: 30,820,944 N764S probably benign Het
Ptar1 A C 19: 23,705,712 E110A possibly damaging Het
Rbm12 A T 2: 156,095,898 probably benign Het
Rfx7 A G 9: 72,617,294 T589A probably benign Het
Rpl21-ps4 G T 14: 11,227,831 noncoding transcript Het
Rpp38 T C 2: 3,329,161 T235A probably benign Het
Sbno2 A T 10: 80,067,402 probably null Het
Scn3a A T 2: 65,524,166 C337* probably null Het
Sec61a2 T C 2: 5,874,262 T312A probably benign Het
Snrpg C A 6: 86,376,568 D43E probably damaging Het
Stag1 A T 9: 100,757,769 Q126L probably null Het
Taar6 A G 10: 23,985,183 V155A probably benign Het
Tet1 G A 10: 62,879,609 H136Y possibly damaging Het
Tet1 C A 10: 62,839,087 S1070I probably damaging Het
Tfcp2 T C 15: 100,514,110 T327A possibly damaging Het
Tnfrsf13c C T 15: 82,223,163 V144M probably damaging Het
Tnfrsf22 T A 7: 143,644,796 K61* probably null Het
Trhr T C 15: 44,197,678 V198A probably benign Het
Trp53inp2 A G 2: 155,386,649 R175G probably damaging Het
Try10 G A 6: 41,355,487 G26R probably damaging Het
Vmn1r205 A G 13: 22,592,200 V244A probably damaging Het
Zfp280d T A 9: 72,307,979 L149Q probably damaging Het
Zfp445 A G 9: 122,861,875 V85A probably damaging Het
Other mutations in Wrnip1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00089:Wrnip1 APN 13 32816329 missense probably damaging 1.00
IGL02947:Wrnip1 APN 13 32822070 missense probably damaging 1.00
R0028:Wrnip1 UTSW 13 32820297 missense probably damaging 1.00
R0131:Wrnip1 UTSW 13 32806864 missense probably damaging 0.98
R0212:Wrnip1 UTSW 13 32821906 missense probably benign 0.45
R0545:Wrnip1 UTSW 13 32806813 missense probably damaging 1.00
R0638:Wrnip1 UTSW 13 32821090 missense possibly damaging 0.82
R1650:Wrnip1 UTSW 13 32805379 missense probably benign 0.02
R1894:Wrnip1 UTSW 13 32805336 critical splice acceptor site probably null
R2176:Wrnip1 UTSW 13 32820240 missense probably damaging 1.00
R2371:Wrnip1 UTSW 13 32802427 missense probably benign
R2475:Wrnip1 UTSW 13 32806958 missense probably benign 0.30
R3122:Wrnip1 UTSW 13 32802761 missense probably benign 0.06
R4247:Wrnip1 UTSW 13 32806883 missense probably damaging 1.00
R4604:Wrnip1 UTSW 13 32802347 missense probably damaging 1.00
R4978:Wrnip1 UTSW 13 32816312 missense probably damaging 1.00
R5109:Wrnip1 UTSW 13 32816336 missense probably damaging 1.00
R5148:Wrnip1 UTSW 13 32806856 missense probably damaging 1.00
R5929:Wrnip1 UTSW 13 32806966 missense probably damaging 1.00
R6750:Wrnip1 UTSW 13 32802756 missense probably damaging 0.99
R7137:Wrnip1 UTSW 13 32802749 missense probably benign 0.01
R7142:Wrnip1 UTSW 13 32802633 missense possibly damaging 0.51
R7378:Wrnip1 UTSW 13 32816281 missense probably benign 0.33
R7468:Wrnip1 UTSW 13 32816377 missense possibly damaging 0.80
R7470:Wrnip1 UTSW 13 32816327 nonsense probably null
R8049:Wrnip1 UTSW 13 32821977 missense probably benign
R8260:Wrnip1 UTSW 13 32805356 missense possibly damaging 0.80
X0019:Wrnip1 UTSW 13 32806766 missense probably damaging 1.00
X0027:Wrnip1 UTSW 13 32802724 unclassified probably benign
Posted On2015-04-16