Incidental Mutation 'IGL01868:Vim'
ID 178594
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Vim
Ensembl Gene ENSMUSG00000026728
Gene Name vimentin
Synonyms
Accession Numbers
Essential gene? Possibly essential (E-score: 0.635) question?
Stock # IGL01868
Quality Score
Status
Chromosome 2
Chromosomal Location 13579122-13587637 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 13583249 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 217 (R217H)
Ref Sequence ENSEMBL: ENSMUSP00000141494 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028062] [ENSMUST00000141365] [ENSMUST00000193675]
AlphaFold P20152
Predicted Effect possibly damaging
Transcript: ENSMUST00000028062
AA Change: R217H

PolyPhen 2 Score 0.691 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000028062
Gene: ENSMUSG00000026728
AA Change: R217H

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 possibly damaging
Transcript: ENSMUST00000193675
AA Change: R217H

PolyPhen 2 Score 0.691 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000141494
Gene: ENSMUSG00000026728
AA Change: R217H

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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afg3l2 G A 18: 67,547,218 (GRCm39) T569M possibly damaging Het
Aldh1l1 A T 6: 90,560,212 (GRCm39) K620* probably null Het
Amdhd2 G T 17: 24,376,504 (GRCm39) T346K probably damaging Het
Arhgap44 T C 11: 64,902,904 (GRCm39) D521G probably damaging Het
Ccdc146 C A 5: 21,538,052 (GRCm39) A91S probably damaging Het
Ccdc187 C A 2: 26,170,960 (GRCm39) R506L probably benign Het
Cd37 T C 7: 44,885,603 (GRCm39) Q128R probably benign Het
Cdh22 T A 2: 164,999,278 (GRCm39) M185L probably damaging Het
Cib2 A T 9: 54,455,759 (GRCm39) N68K probably damaging Het
Ddx46 C T 13: 55,787,683 (GRCm39) R96* probably null Het
Dnajc13 A T 9: 104,039,944 (GRCm39) H2050Q possibly damaging Het
Drgx C A 14: 32,330,334 (GRCm39) F150L probably damaging Het
Duox1 A G 2: 122,168,888 (GRCm39) H1172R probably benign Het
Eftud2 C T 11: 102,759,953 (GRCm39) V132I probably benign Het
Fcrl5 G A 3: 87,351,014 (GRCm39) D87N possibly damaging Het
Gm10718 A T 9: 3,025,118 (GRCm39) Y194F probably benign Het
Gm5862 A C 5: 26,227,769 (GRCm39) W41G probably benign Het
Kat6a T C 8: 23,416,471 (GRCm39) F660L probably damaging Het
Lipo2 T C 19: 33,708,238 (GRCm39) M259V probably benign Het
Lrrcc1 T A 3: 14,619,417 (GRCm39) L90* probably null Het
Lsm1 G A 8: 26,283,821 (GRCm39) probably null Het
Luzp1 T C 4: 136,270,048 (GRCm39) I757T probably damaging Het
Micall1 A G 15: 78,999,260 (GRCm39) I76V probably benign Het
Mmp21 A T 7: 133,277,643 (GRCm39) D394E probably damaging Het
Mtfr1l T C 4: 134,258,018 (GRCm39) D68G probably null Het
Necab2 A G 8: 120,189,315 (GRCm39) S162G probably benign Het
Or11a4 A T 17: 37,536,043 (GRCm39) Q9L probably benign Het
Or4c100 T C 2: 88,356,059 (GRCm39) V44A possibly damaging Het
Or51b17 G A 7: 103,542,583 (GRCm39) R120* probably null Het
Or6n1 C T 1: 173,916,936 (GRCm39) T110I possibly damaging Het
Pde7b A T 10: 20,282,911 (GRCm39) C376* probably null Het
Pira12 G A 7: 3,900,174 (GRCm39) Q143* probably null Het
Plcb2 A G 2: 118,540,071 (GRCm39) L1074P probably damaging Het
Plcb2 G T 2: 118,541,868 (GRCm39) T914N probably benign Het
Prph C A 15: 98,954,224 (GRCm39) D207E probably damaging Het
Rbp4 C A 19: 38,112,968 (GRCm39) R37L probably damaging Het
Ryr3 T C 2: 112,633,503 (GRCm39) probably benign Het
Sardh T G 2: 27,117,159 (GRCm39) Q496P probably benign Het
Serpina1f T A 12: 103,659,704 (GRCm39) N193Y probably benign Het
Slc10a7 G A 8: 79,423,965 (GRCm39) probably null Het
Spg7 T C 8: 123,816,975 (GRCm39) probably null Het
Sphkap T C 1: 83,258,120 (GRCm39) probably null Het
Tas2r121 T A 6: 132,677,235 (GRCm39) I246L probably benign Het
Tbc1d9b T C 11: 50,052,460 (GRCm39) F889S probably damaging Het
Tcp10a T C 17: 7,597,263 (GRCm39) M140T possibly damaging Het
Tctn2 G A 5: 124,754,591 (GRCm39) noncoding transcript Het
Tfap2b G T 1: 19,284,506 (GRCm39) R138L probably damaging Het
Tnrc18 T C 5: 142,757,567 (GRCm39) T985A unknown Het
Treml1 G A 17: 48,673,035 (GRCm39) V211I probably benign Het
Ubr4 C T 4: 139,139,989 (GRCm39) Q1191* probably null Het
Vmn2r129 C T 4: 156,690,549 (GRCm39) noncoding transcript Het
Vmn2r77 A G 7: 86,452,224 (GRCm39) D468G probably benign Het
Vmn2r98 G T 17: 19,286,548 (GRCm39) V349F probably benign Het
Vwa7 A T 17: 35,240,235 (GRCm39) E401V probably null Het
Zfp119b C A 17: 56,246,866 (GRCm39) V75L possibly damaging Het
Zfp287 C T 11: 62,606,083 (GRCm39) E275K probably benign Het
Other mutations in Vim
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00786:Vim APN 2 13,583,321 (GRCm39) critical splice donor site probably null
IGL01660:Vim APN 2 13,579,624 (GRCm39) missense probably damaging 1.00
IGL02166:Vim APN 2 13,579,405 (GRCm39) missense probably damaging 1.00
IGL02867:Vim APN 2 13,585,491 (GRCm39) missense probably damaging 1.00
IGL02889:Vim APN 2 13,585,491 (GRCm39) missense probably damaging 1.00
R0276:Vim UTSW 2 13,579,670 (GRCm39) missense probably benign 0.01
R0626:Vim UTSW 2 13,579,463 (GRCm39) missense probably benign 0.00
R1695:Vim UTSW 2 13,584,921 (GRCm39) missense probably benign 0.00
R1712:Vim UTSW 2 13,583,270 (GRCm39) missense probably damaging 0.98
R3609:Vim UTSW 2 13,583,437 (GRCm39) missense possibly damaging 0.67
R3610:Vim UTSW 2 13,583,437 (GRCm39) missense possibly damaging 0.67
R3810:Vim UTSW 2 13,583,563 (GRCm39) critical splice donor site probably null
R4063:Vim UTSW 2 13,584,827 (GRCm39) critical splice acceptor site probably null
R4347:Vim UTSW 2 13,580,329 (GRCm39) intron probably benign
R4647:Vim UTSW 2 13,587,306 (GRCm39) missense probably benign 0.18
R4678:Vim UTSW 2 13,579,775 (GRCm39) missense probably damaging 1.00
R5261:Vim UTSW 2 13,579,643 (GRCm39) missense probably null 1.00
R5342:Vim UTSW 2 13,584,824 (GRCm39) splice site probably null
R5488:Vim UTSW 2 13,580,392 (GRCm39) missense probably benign 0.01
R5838:Vim UTSW 2 13,585,001 (GRCm39) missense probably damaging 1.00
R5988:Vim UTSW 2 13,587,296 (GRCm39) missense probably benign 0.01
R7513:Vim UTSW 2 13,583,443 (GRCm39) missense possibly damaging 0.94
R8490:Vim UTSW 2 13,584,265 (GRCm39) missense probably damaging 1.00
R9043:Vim UTSW 2 13,579,249 (GRCm39) missense unknown
R9166:Vim UTSW 2 13,579,556 (GRCm39) missense probably benign 0.00
R9603:Vim UTSW 2 13,579,148 (GRCm39) start gained probably benign
R9649:Vim UTSW 2 13,579,703 (GRCm39) missense probably damaging 0.98
R9792:Vim UTSW 2 13,579,598 (GRCm39) missense probably benign 0.21
R9793:Vim UTSW 2 13,579,598 (GRCm39) missense probably benign 0.21
X0018:Vim UTSW 2 13,579,559 (GRCm39) missense probably damaging 1.00
Posted On 2014-05-07