Incidental Mutation 'R0626:Vim'
ID 57458
Institutional Source Beutler Lab
Gene Symbol Vim
Ensembl Gene ENSMUSG00000026728
Gene Name vimentin
Synonyms
MMRRC Submission 038815-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.635) question?
Stock # R0626 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 13579122-13587637 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 13579463 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 74 (V74A)
Ref Sequence ENSEMBL: ENSMUSP00000141494 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028062] [ENSMUST00000141365] [ENSMUST00000193675]
AlphaFold P20152
Predicted Effect probably benign
Transcript: ENSMUST00000028062
AA Change: V74A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000028062
Gene: ENSMUSG00000026728
AA Change: V74A

DomainStartEndE-ValueType
Pfam:Filament_head 6 101 7.8e-23 PFAM
Filament 102 410 6.65e-150 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000141365
AA Change: V74A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000114742
Gene: ENSMUSG00000026728
AA Change: V74A

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 benign
Transcript: ENSMUST00000193675
AA Change: V74A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000141494
Gene: ENSMUSG00000026728
AA Change: V74A

DomainStartEndE-ValueType
Pfam:Filament_head 6 101 3.8e-19 PFAM
Pfam:Filament 102 410 3.6e-116 PFAM
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 99.0%
  • 10x: 97.9%
  • 20x: 96.2%
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: 108 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700012B07Rik T C 11: 109,679,547 (GRCm39) probably benign Het
6430571L13Rik T A 9: 107,219,707 (GRCm39) D53E possibly damaging Het
A2ml1 T A 6: 128,527,736 (GRCm39) N1018I probably damaging Het
Abi3 C A 11: 95,727,937 (GRCm39) A85S probably benign Het
Acsl5 A T 19: 55,272,904 (GRCm39) M340L probably benign Het
Adam29 T A 8: 56,324,612 (GRCm39) H614L probably benign Het
Adgrg6 A T 10: 14,312,628 (GRCm39) S720T probably damaging Het
Adrb2 G T 18: 62,312,441 (GRCm39) A128E probably damaging Het
Afap1l1 T C 18: 61,872,291 (GRCm39) E510G probably benign Het
Angel1 A G 12: 86,764,487 (GRCm39) probably null Het
Aox3 T G 1: 58,211,458 (GRCm39) I1005S possibly damaging Het
Apc C A 18: 34,451,507 (GRCm39) P2767Q probably damaging Het
Apob T G 12: 8,066,193 (GRCm39) D4387E probably benign Het
Apobr T C 7: 126,185,827 (GRCm39) V446A possibly damaging Het
Arhgap28 A T 17: 68,203,108 (GRCm39) probably null Het
Aspm G T 1: 139,419,339 (GRCm39) K3001N probably damaging Het
Asxl3 G T 18: 22,655,937 (GRCm39) V1316F probably benign Het
Atp2a1 T A 7: 126,046,162 (GRCm39) probably null Het
Bach1 A G 16: 87,526,359 (GRCm39) D607G possibly damaging Het
Batf3 A G 1: 190,832,935 (GRCm39) D27G probably damaging Het
Baz1a G T 12: 55,022,055 (GRCm39) Q76K probably damaging Het
Bdnf G A 2: 109,553,883 (GRCm39) V86M probably benign Het
Birc7 A G 2: 180,573,098 (GRCm39) I172V probably benign Het
Bod1l A C 5: 41,988,880 (GRCm39) V409G probably damaging Het
Cacna1e T A 1: 154,364,563 (GRCm39) E337V probably damaging Het
Cacna1h A G 17: 25,612,520 (GRCm39) F287L possibly damaging Het
Ces1e A G 8: 93,950,671 (GRCm39) Y37H probably benign Het
Clasrp A T 7: 19,318,418 (GRCm39) probably benign Het
Clec2d T A 6: 129,160,090 (GRCm39) S35T probably damaging Het
Cntn4 T A 6: 106,639,539 (GRCm39) D556E probably benign Het
Cntnap5c A T 17: 58,349,422 (GRCm39) D245V probably benign Het
Col5a1 T A 2: 27,818,255 (GRCm39) L160* probably null Het
Col6a6 T C 9: 105,654,943 (GRCm39) E926G probably benign Het
Cpsf2 T A 12: 101,951,490 (GRCm39) H142Q probably benign Het
Cr2 A C 1: 194,853,419 (GRCm39) S20A possibly damaging Het
Ct45a G A X: 55,590,399 (GRCm39) P134L probably benign Het
Cyp2j5 A T 4: 96,547,749 (GRCm39) H164Q probably benign Het
D430041D05Rik G C 2: 103,998,295 (GRCm39) P1836R probably damaging Het
Dmbt1 G A 7: 130,703,811 (GRCm39) V1124M probably damaging Het
Dmxl2 T C 9: 54,323,838 (GRCm39) H1182R probably damaging Het
Dnah2 A T 11: 69,368,509 (GRCm39) S1709T probably benign Het
Dop1b T C 16: 93,560,844 (GRCm39) V776A probably damaging Het
Emc3 T C 6: 113,492,992 (GRCm39) T220A probably benign Het
Entpd1 A C 19: 40,715,769 (GRCm39) N312T probably benign Het
Fam8a1 A T 13: 46,824,699 (GRCm39) I229F probably damaging Het
Fancc G A 13: 63,465,205 (GRCm39) P501S probably damaging Het
Fasn T C 11: 120,702,751 (GRCm39) R1704G probably damaging Het
Fsip2 A G 2: 82,819,302 (GRCm39) I5012V probably benign Het
Glce T C 9: 61,968,282 (GRCm39) T290A probably benign Het
Gns G A 10: 121,219,349 (GRCm39) probably null Het
Gsdma2 A G 11: 98,542,810 (GRCm39) N190S probably damaging Het
Hectd4 T A 5: 121,415,887 (GRCm39) S563T probably benign Het
Hmcn1 T C 1: 150,674,470 (GRCm39) probably null Het
Jup A T 11: 100,267,589 (GRCm39) M578K probably benign Het
Kir3dl1 G A X: 135,434,594 (GRCm39) probably null Het
Krt75 A G 15: 101,482,025 (GRCm39) F81S probably benign Het
Lrp1 G T 10: 127,403,233 (GRCm39) D2113E probably damaging Het
Maged2 T A X: 149,594,830 (GRCm39) N176Y probably damaging Het
Mrc1 T A 2: 14,333,382 (GRCm39) C1354* probably null Het
Mup7 A C 4: 60,069,742 (GRCm39) V74G possibly damaging Het
Naca A G 10: 127,877,031 (GRCm39) probably benign Het
Nav3 T G 10: 109,659,325 (GRCm39) Y764S probably damaging Het
Nkpd1 A T 7: 19,257,099 (GRCm39) T293S probably benign Het
Numb A G 12: 83,842,614 (GRCm39) Y510H probably damaging Het
Nynrin T G 14: 56,105,492 (GRCm39) L834R probably damaging Het
Or11g27 T C 14: 50,771,159 (GRCm39) S97P possibly damaging Het
Or2ak5 G T 11: 58,611,347 (GRCm39) H176N probably benign Het
Or8g18 T A 9: 39,149,162 (GRCm39) N186I possibly damaging Het
Otog T C 7: 45,920,797 (GRCm39) V1000A possibly damaging Het
Pafah1b3 A G 7: 24,996,554 (GRCm39) V43A possibly damaging Het
Pcnx1 A G 12: 82,030,450 (GRCm39) Y1775C possibly damaging Het
Phka1 G A X: 101,564,437 (GRCm39) R1074C probably damaging Het
Pi4ka T A 16: 17,111,765 (GRCm39) Y1570F probably benign Het
Piezo2 T C 18: 63,152,329 (GRCm39) K2588E probably damaging Het
Pkd1 A G 17: 24,794,549 (GRCm39) T2079A probably damaging Het
Plekhd1 G T 12: 80,764,075 (GRCm39) Q212H probably damaging Het
Plekhh1 C T 12: 79,087,359 (GRCm39) R16* probably null Het
Polm C A 11: 5,786,207 (GRCm39) R120L probably damaging Het
Ptpn22 T C 3: 103,767,721 (GRCm39) M1T probably null Het
Ptprh G A 7: 4,567,271 (GRCm39) L534F probably benign Het
Rabl6 C T 2: 25,482,778 (GRCm39) probably null Het
Rap2a A G 14: 120,716,403 (GRCm39) S89G probably damaging Het
Rara A T 11: 98,862,406 (GRCm39) probably null Het
Reck A G 4: 43,930,295 (GRCm39) D623G probably benign Het
Relt A T 7: 100,498,023 (GRCm39) L237Q probably damaging Het
Rngtt A G 4: 33,329,598 (GRCm39) probably null Het
Rtn4rl2 T G 2: 84,710,763 (GRCm39) Y167S probably damaging Het
Sec24c C T 14: 20,738,505 (GRCm39) R353C probably damaging Het
Slc35g2 T C 9: 100,435,495 (GRCm39) S59G probably benign Het
Smarcd2 A T 11: 106,158,241 (GRCm39) M107K probably benign Het
Smg1 T C 7: 117,781,606 (GRCm39) N1227S possibly damaging Het
Snrnp200 A G 2: 127,063,734 (GRCm39) N638D possibly damaging Het
Sntb1 A G 15: 55,506,179 (GRCm39) S465P probably benign Het
Sp4 A G 12: 118,263,314 (GRCm39) L244P probably damaging Het
Sulf1 A G 1: 12,887,716 (GRCm39) probably null Het
Tbc1d17 T C 7: 44,492,509 (GRCm39) T385A probably benign Het
Tbx10 C A 19: 4,047,873 (GRCm39) D206E probably benign Het
Tcea2 C T 2: 181,329,431 (GRCm39) P275S probably damaging Het
Tns3 C A 11: 8,443,121 (GRCm39) R414L probably benign Het
Trip11 T C 12: 101,852,235 (GRCm39) R610G possibly damaging Het
Ugt2b1 T C 5: 87,073,720 (GRCm39) K213R probably null Het
Unc80 A G 1: 66,647,601 (GRCm39) S1514G probably benign Het
Usp7 G T 16: 8,511,778 (GRCm39) Q867K possibly damaging Het
Vmn1r234 A G 17: 21,450,007 (GRCm39) Y307C probably benign Het
Vmn2r74 A T 7: 85,610,517 (GRCm39) Y58* probably null Het
Wdr36 C A 18: 32,983,584 (GRCm39) A445E probably damaging Het
Xpo5 T A 17: 46,532,359 (GRCm39) W465R probably damaging Het
Zscan4d T A 7: 10,898,946 (GRCm39) R110S probably damaging 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
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
Predicted Primers PCR Primer
(F):5'- GTGTTATAAAAGCAGCGCCCTTGG -3'
(R):5'- AGGAAGCGCACCTTGTCGATGTAG -3'

Sequencing Primer
(F):5'- TTCGAAGCCATGTCTACCAGG -3'
(R):5'- AGTTGGCAAAGCGGTCATTC -3'
Posted On 2013-07-11