Incidental Mutation 'IGL00786:Vim'
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ID14777
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: 0.664) question?
Stock #IGL00786
Quality Score
Status
Chromosome2
Chromosomal Location13573927-13582826 bp(+) (GRCm38)
Type of Mutationcritical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 13578510 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000141494 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028062] [ENSMUST00000141365] [ENSMUST00000193675]
Predicted Effect probably null
Transcript: ENSMUST00000028062
SMART Domains Protein: ENSMUSP00000028062
Gene: ENSMUSG00000026728

DomainStartEndE-ValueType
Pfam:Filament_head 6 101 7.8e-23 PFAM
Filament 102 410 6.65e-150 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000141365
SMART Domains Protein: ENSMUSP00000114742
Gene: ENSMUSG00000026728

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 null
Transcript: ENSMUST00000193675
SMART Domains Protein: ENSMUSP00000141494
Gene: ENSMUSG00000026728

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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930402F06Rik T C 2: 35,375,839 N242S probably benign Het
Akap9 C A 5: 4,070,522 A3646E probably damaging Het
Akt1 C A 12: 112,657,671 G233V probably damaging Het
B3gat3 A G 19: 8,926,785 E320G probably benign Het
Bpifa5 G A 2: 154,167,252 C238Y probably damaging Het
Camkmt T C 17: 85,096,491 V47A probably damaging Het
Ccnl2 C T 4: 155,820,880 R284W probably damaging Het
Chl1 G T 6: 103,675,145 V341F probably damaging Het
Cst3 A T 2: 148,872,877 C93* probably null Het
Ctsh T C 9: 90,064,238 V119A probably damaging Het
Dmap1 C T 4: 117,676,396 R225Q possibly damaging Het
Ehbp1 A G 11: 22,100,460 S479P possibly damaging Het
Eml2 A G 7: 19,202,582 Y528C probably damaging Het
Faim G A 9: 98,992,165 G15R probably damaging Het
G6pc3 A G 11: 102,193,105 M186V probably benign Het
Gpr37 A G 6: 25,669,318 V509A possibly damaging Het
Heatr5b G T 17: 78,824,634 H347N possibly damaging Het
Idh1 A G 1: 65,166,243 S188P probably damaging Het
Mphosph8 T C 14: 56,672,544 V118A probably benign Het
Mthfsd C T 8: 121,104,468 R91Q probably damaging Het
Otor G A 2: 143,079,926 V86I probably damaging Het
Pdk2 T A 11: 95,031,935 T140S probably benign Het
Pnliprp2 A G 19: 58,760,497 N78S probably benign Het
Rimbp3 C T 16: 17,211,688 T992M probably damaging Het
Sdad1 A T 5: 92,303,773 probably null Het
Sidt2 A G 9: 45,949,803 S71P possibly damaging Het
Slc44a2 T A 9: 21,345,935 V390E probably damaging Het
Tmem168 T C 6: 13,602,675 I231V probably benign Het
Uhrf1bp1 T A 17: 27,879,292 I136N probably damaging Het
Other mutations in Vim
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01660:Vim APN 2 13574813 missense probably damaging 1.00
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 On2012-12-06