Incidental Mutation 'IGL01660:Vim'
ID103152
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Vim
Ensembl Gene ENSMUSG00000026728
Gene Namevimentin
Synonyms
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.691) question?
Stock #IGL01660
Quality Score
Status
Chromosome2
Chromosomal Location13573927-13582826 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 13574813 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Aspartic acid at position 128 (N128D)
Ref Sequence ENSEMBL: ENSMUSP00000141494 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028062] [ENSMUST00000141365] [ENSMUST00000193675]
Predicted Effect probably damaging
Transcript: ENSMUST00000028062
AA Change: N128D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000028062
Gene: ENSMUSG00000026728
AA Change: N128D

DomainStartEndE-ValueType
Pfam:Filament_head 6 101 7.8e-23 PFAM
Filament 102 410 6.65e-150 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000141365
AA Change: N128D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000114742
Gene: ENSMUSG00000026728
AA Change: N128D

DomainStartEndE-ValueType
Pfam:Filament_head 6 101 1.8e-23 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148248
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155605
Predicted Effect noncoding transcript
Transcript: ENSMUST00000191615
Predicted Effect probably damaging
Transcript: ENSMUST00000193675
AA Change: N128D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000141494
Gene: ENSMUSG00000026728
AA Change: N128D

DomainStartEndE-ValueType
Pfam:Filament_head 6 101 3.8e-19 PFAM
Pfam:Filament 102 410 3.6e-116 PFAM
Coding Region Coverage
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 intermediate filament family. Intermediate filamentents, along with microtubules and actin microfilaments, make up the cytoskeleton. The protein encoded by this gene is responsible for maintaining cell shape, integrity of the cytoplasm, and stabilizing cytoskeletal interactions. It is also involved in the immune response, and controls the transport of low-density lipoprotein (LDL)-derived cholesterol from a lysosome to the site of esterification. It functions as an organizer of a number of critical proteins involved in attachment, migration, and cell signaling. Mutations in this gene causes a dominant, pulverulent cataract.[provided by RefSeq, Jun 2009]
PHENOTYPE: Homozygous null mutants exhibit impaired performance in motor coordination tests; cerebellum shows underdeveloped/abnormal Bergman glia and stunted, poorly branched Purkinje cells. Mutants are unable to survive experimental 75% reduction of kidney mass. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9130011E15Rik A T 19: 45,940,476 L393H probably damaging Het
Acta2 A G 19: 34,251,791 I66T probably damaging Het
Actl11 T C 9: 107,929,048 V190A probably benign Het
Ankub1 T A 3: 57,690,396 Y51F possibly damaging Het
Ccdc63 G A 5: 122,110,964 S434L possibly damaging Het
Cdan1 T A 2: 120,725,653 I711F possibly damaging Het
Cep170b C A 12: 112,744,160 N1474K probably damaging Het
Cyp2c40 A G 19: 39,786,810 S333P probably damaging Het
Dars A G 1: 128,415,344 probably benign Het
Dock3 T A 9: 107,032,364 probably benign Het
Dsp A G 13: 38,176,495 I359V possibly damaging Het
Fut8 T G 12: 77,450,258 L414* probably null Het
Gja1 A G 10: 56,388,448 Y301C probably damaging Het
Glipr1l1 T C 10: 112,072,279 S161P probably damaging Het
Gpat4 A T 8: 23,175,338 probably null Het
Grhl1 T A 12: 24,608,578 probably null Het
Hectd3 T C 4: 116,996,372 V181A possibly damaging Het
Htr2a T A 14: 74,705,754 I258N probably damaging Het
Hyou1 T A 9: 44,381,117 D83E possibly damaging Het
Myh10 T A 11: 68,785,889 L862Q probably benign Het
Nkx2-2 T C 2: 147,185,913 S36G probably benign Het
Nsun2 T A 13: 69,623,249 V326E probably benign Het
Nuak2 T C 1: 132,331,570 V362A probably benign Het
Nyap2 G A 1: 81,191,927 C133Y probably damaging Het
Oas2 T C 5: 120,741,223 T351A probably benign Het
Olfr1025-ps1 T C 2: 85,918,564 I213T probably benign Het
Olfr279 C T 15: 98,498,195 T241I probably damaging Het
Pde4d A T 13: 109,938,072 I404F probably damaging Het
Pga5 A G 19: 10,675,092 S95P probably damaging Het
Pitpnm2 A T 5: 124,123,194 D947E probably damaging Het
Pla2g10 C T 16: 13,728,086 R28H probably damaging Het
Prlr A G 15: 10,317,590 D84G probably damaging Het
Rbm15b C T 9: 106,885,709 G420D probably damaging Het
Tbcd A G 11: 121,605,327 T1063A probably benign Het
Tmc2 C T 2: 130,260,224 Q770* probably null Het
Tpo T C 12: 30,119,400 probably benign Het
Vmn1r21 A T 6: 57,844,237 I74N probably damaging Het
Vmn2r52 A C 7: 10,159,180 I677M probably damaging Het
Other mutations in Vim
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00786:Vim APN 2 13578510 critical splice donor site probably null
IGL01868:Vim APN 2 13578438 missense possibly damaging 0.69
IGL02166:Vim APN 2 13574594 missense probably damaging 1.00
IGL02867:Vim APN 2 13580680 missense probably damaging 1.00
IGL02889:Vim APN 2 13580680 missense probably damaging 1.00
R0276:Vim UTSW 2 13574859 missense probably benign 0.01
R0626:Vim UTSW 2 13574652 missense probably benign 0.00
R1695:Vim UTSW 2 13580110 missense probably benign 0.00
R1712:Vim UTSW 2 13578459 missense probably damaging 0.98
R3609:Vim UTSW 2 13578626 missense possibly damaging 0.67
R3610:Vim UTSW 2 13578626 missense possibly damaging 0.67
R3810:Vim UTSW 2 13578752 critical splice donor site probably null
R4063:Vim UTSW 2 13580016 critical splice acceptor site probably null
R4347:Vim UTSW 2 13575518 intron probably benign
R4647:Vim UTSW 2 13582495 missense probably benign 0.18
R4678:Vim UTSW 2 13574964 missense probably damaging 1.00
R5261:Vim UTSW 2 13574832 missense probably null 1.00
R5342:Vim UTSW 2 13580013 splice site probably null
R5488:Vim UTSW 2 13575581 missense probably benign 0.01
R5838:Vim UTSW 2 13580190 missense probably damaging 1.00
R5988:Vim UTSW 2 13582485 missense probably benign 0.01
R7513:Vim UTSW 2 13578632 missense possibly damaging 0.94
X0018:Vim UTSW 2 13574748 missense probably damaging 1.00
Posted On2014-01-21