Incidental Mutation 'R4063:Vim'
ID 315942
Institutional Source Beutler Lab
Gene Symbol Vim
Ensembl Gene ENSMUSG00000026728
Gene Name vimentin
Synonyms
MMRRC Submission 041619-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.635) question?
Stock # R4063 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 13579122-13587637 bp(+) (GRCm39)
Type of Mutation critical splice acceptor site
DNA Base Change (assembly) A to G at 13584827 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000141494 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028062] [ENSMUST00000193675] [ENSMUST00000193675]
AlphaFold P20152
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 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
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
Meta Mutation Damage Score 0.9585 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency 97% (59/61)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700034J05Rik A T 6: 146,854,606 (GRCm39) F145L probably benign Het
Abcc9 T C 6: 142,551,645 (GRCm39) D1221G possibly damaging Het
Adamtsl4 T C 3: 95,584,864 (GRCm39) K935E probably benign Het
Ago4 A T 4: 126,409,655 (GRCm39) probably benign Het
Arhgef28 T C 13: 98,130,575 (GRCm39) D421G probably benign Het
Armh4 T A 14: 50,011,444 (GRCm39) M88L probably benign Het
Atl2 T C 17: 80,157,588 (GRCm39) *413W probably null Het
B4galt7 C A 13: 55,756,152 (GRCm39) probably null Het
Bltp3b A G 10: 89,651,917 (GRCm39) N247S probably benign Het
C8g A T 2: 25,389,425 (GRCm39) S147T probably damaging Het
Clstn3 A T 6: 124,426,792 (GRCm39) Y510N possibly damaging Het
Cnot2 A G 10: 116,373,301 (GRCm39) V34A possibly damaging Het
Cyb5d2 A T 11: 72,686,606 (GRCm39) probably benign Het
Dnah5 T C 15: 28,421,144 (GRCm39) I3827T probably damaging Het
Dnah7a G T 1: 53,464,376 (GRCm39) Q3672K probably benign Het
Dock1 A T 7: 134,717,021 (GRCm39) Y1219F possibly damaging Het
Espl1 A G 15: 102,221,424 (GRCm39) I944V probably damaging Het
Fat1 A T 8: 45,478,518 (GRCm39) E2521D probably benign Het
Gm10719 G T 9: 3,019,043 (GRCm39) W96L probably damaging Het
H2-M2 G A 17: 37,792,399 (GRCm39) H291Y probably damaging Het
Hmgcl T C 4: 135,686,035 (GRCm39) Y167H probably damaging Het
Il22ra2 A T 10: 19,502,400 (GRCm39) D73V possibly damaging Het
Incenp A T 19: 9,861,142 (GRCm39) M480K unknown Het
Irag1 G T 7: 110,522,984 (GRCm39) A359D probably benign Het
Kdm6a A G X: 18,117,114 (GRCm39) T266A probably benign Het
Lipf A G 19: 33,942,965 (GRCm39) N91S probably benign Het
M1ap A T 6: 82,980,756 (GRCm39) N214I probably damaging Het
Mast3 A G 8: 71,233,838 (GRCm39) V969A probably damaging Het
Mdga1 A G 17: 30,057,005 (GRCm39) C826R probably damaging Het
Msx1 C A 5: 37,981,365 (GRCm39) A105S probably benign Het
Or5ac23 A C 16: 59,149,243 (GRCm39) S210A probably benign Het
Otogl A T 10: 107,626,510 (GRCm39) D1451E probably benign Het
Otop2 G A 11: 115,220,201 (GRCm39) G347D probably damaging Het
Ppp1r13l A T 7: 19,103,978 (GRCm39) H153L probably benign Het
Pramel21 A G 4: 143,342,559 (GRCm39) D222G possibly damaging Het
Pramel29 T C 4: 143,935,265 (GRCm39) K161E possibly damaging Het
Proz A G 8: 13,114,621 (GRCm39) Y85C probably damaging Het
Prss50 A G 9: 110,687,480 (GRCm39) D141G probably benign Het
Rad54l2 T A 9: 106,597,613 (GRCm39) Q131L probably benign Het
Sdha A G 13: 74,472,077 (GRCm39) probably benign Het
Sema3d T A 5: 12,635,091 (GRCm39) I719N probably benign Het
Slc18b1 A T 10: 23,681,879 (GRCm39) I148L probably benign Het
Tacc2 G T 7: 130,330,852 (GRCm39) D2086Y probably damaging Het
Tchh T C 3: 93,354,298 (GRCm39) L1246P unknown Het
Tmprss11d T C 5: 86,457,177 (GRCm39) I161V probably benign Het
Trpc3 T C 3: 36,725,172 (GRCm39) D268G probably damaging Het
Trpm8 G A 1: 88,289,727 (GRCm39) R895H probably damaging Het
Txndc2 A G 17: 65,945,079 (GRCm39) I366T possibly damaging Het
Ugt2a3 T C 5: 87,484,725 (GRCm39) I100V probably benign Het
Upp1 C A 11: 9,081,709 (GRCm39) P82Q probably damaging Het
Vmn2r12 A T 5: 109,240,058 (GRCm39) N168K possibly damaging Het
Zdhhc14 G T 17: 5,802,983 (GRCm39) C362F probably damaging Het
Zfp292 A G 4: 34,810,863 (GRCm39) V727A probably damaging Het
Zswim5 G A 4: 116,735,177 (GRCm39) G174D unknown 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
IGL01868:Vim APN 2 13,583,249 (GRCm39) missense possibly damaging 0.69
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
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
Predicted Primers PCR Primer
(F):5'- TGACTAGGTTAACAATGAGACCTG -3'
(R):5'- TGGCGATCTCAATGTCCAGG -3'

Sequencing Primer
(F):5'- TCACAGTTAAGCTAGGCTGC -3'
(R):5'- GTCCAGGGCCATCTTAACATTGAG -3'
Posted On 2015-05-15