Mutagenetix > Incidental Mutation

Incidental Mutation 'R9166:Vim'

696034

Institutional Source

Beutler Lab

Gene Symbol

Vim

Ensembl Gene

ENSMUSG00000026728

Gene Name

vimentin

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.635) question?

Stock #

R9166 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

13579122-13587637 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 13579556 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 105 (V105A)

Ref Sequence

ENSEMBL: ENSMUSP00000028062 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028062] [ENSMUST00000141365] [ENSMUST00000193675]

AlphaFold

P20152

Predicted Effect

probably benign
Transcript: ENSMUST00000028062
AA Change: V105A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000028062
Gene: ENSMUSG00000026728
AA Change: V105A

Domain	Start	End	E-Value	Type
Pfam:Filament_head	6	101	7.8e-23	PFAM
Filament	102	410	6.65e-150	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000141365
AA Change: V105A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000114742
Gene: ENSMUSG00000026728
AA Change: V105A

Domain	Start	End	E-Value	Type
Pfam:Filament_head	6	101	1.8e-23	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000193675
AA Change: V105A

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000141494
Gene: ENSMUSG00000026728
AA Change: V105A

Domain	Start	End	E-Value	Type
Pfam:Filament_head	6	101	3.8e-19	PFAM
Pfam:Filament	102	410	3.6e-116	PFAM

Meta Mutation Damage Score

0.0779

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (70/70)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438H23Rik	A	G	16: 90,853,046 (GRCm39)	L30P	possibly damaging	Het
Adgrb1	A	C	15: 74,420,475 (GRCm39)	M875L	probably benign	Het
Amot	A	T	X: 144,244,745 (GRCm39)	L435H		Het
Ankrd13c	T	A	3: 157,705,357 (GRCm39)	S427T	probably benign	Het
Aopep	G	A	13: 63,318,862 (GRCm39)		probably null	Het
Ap3b1	A	C	13: 94,608,236 (GRCm39)	Y569S	probably damaging	Het
Bco2	A	G	9: 50,447,667 (GRCm39)	V352A	probably benign	Het
Bltp1	T	A	3: 37,041,516 (GRCm39)	N2630K	probably damaging	Het
Cacnb1	T	A	11: 97,910,534 (GRCm39)	D48V	probably damaging	Het
Cdr2l	C	A	11: 115,283,537 (GRCm39)	Q132K	probably benign	Het
Chrd	T	C	16: 20,554,572 (GRCm39)	M377T	probably benign	Het
Coq7	T	C	7: 118,109,365 (GRCm39)	T228A	unknown	Het
D7Ertd443e	G	A	7: 133,900,048 (GRCm39)	T438I	probably benign	Het
Dlc1	C	T	8: 37,066,589 (GRCm39)	E15K	probably damaging	Het
Dlgap5	C	T	14: 47,651,206 (GRCm39)	R109Q	probably damaging	Het
Dysf	T	C	6: 84,126,959 (GRCm39)	V1359A	probably damaging	Het
E2f7	C	T	10: 110,618,085 (GRCm39)	P717S	probably benign	Het
Elmo2	T	C	2: 165,132,438 (GRCm39)	D669G	probably benign	Het
Epha6	A	G	16: 60,425,238 (GRCm39)	V125A	probably benign	Het
Erg	G	T	16: 95,190,807 (GRCm39)	H119N	probably benign	Het
Fam13b	T	C	18: 34,595,252 (GRCm39)	S371G	probably benign	Het
Fancg	G	C	4: 43,006,800 (GRCm39)	Q297E	probably benign	Het
Gas2	A	G	7: 51,586,323 (GRCm39)	E145G	possibly damaging	Het
Gas7	T	C	11: 67,561,446 (GRCm39)	V218A	probably benign	Het
Gm9970	A	G	5: 31,398,345 (GRCm39)	S78P	unknown	Het
Hectd4	A	C	5: 121,446,690 (GRCm39)	D259A	probably damaging	Het
Hoxb2	T	G	11: 96,244,339 (GRCm39)	S317A	probably damaging	Het
Hspg2	T	C	4: 137,270,185 (GRCm39)	L2381P	probably damaging	Het
Irf4	A	T	13: 30,941,484 (GRCm39)	H280L	probably benign	Het
Irf7	A	G	7: 140,844,666 (GRCm39)	V142A	probably benign	Het
Kat7	T	C	11: 95,190,928 (GRCm39)	I94V	probably benign	Het
Kera	T	A	10: 97,448,830 (GRCm39)	I350K	possibly damaging	Het
Klf15	T	C	6: 90,443,952 (GRCm39)	S176P	probably benign	Het
Lrrc59	C	A	11: 94,522,959 (GRCm39)	T53N	probably benign	Het
Morn5	T	C	2: 35,945,024 (GRCm39)	Y83H	probably damaging	Het
Myef2l	A	G	3: 10,153,849 (GRCm39)	N206S	probably benign	Het
Neil3	A	C	8: 54,058,722 (GRCm39)	M273R	probably damaging	Het
Ngfr	A	T	11: 95,465,047 (GRCm39)	V267E	possibly damaging	Het
Nudc	T	C	4: 133,273,165 (GRCm39)	D11G	probably damaging	Het
Or2t1	A	T	14: 14,329,059 (GRCm38)	D316V	probably benign	Het
Or4a81	T	A	2: 89,619,291 (GRCm39)	N135I	probably damaging	Het
Pde8a	C	T	7: 80,982,619 (GRCm39)	T746I	probably damaging	Het
Pik3cg	C	T	12: 32,242,213 (GRCm39)	G966R	probably damaging	Het
Ppfibp1	A	G	6: 146,920,980 (GRCm39)	T573A	probably damaging	Het
Ppp2r5a	C	A	1: 191,128,504 (GRCm39)	R37L	probably benign	Het
Prpf8	T	C	11: 75,387,340 (GRCm39)	F1207S	possibly damaging	Het
Prtg	A	T	9: 72,764,107 (GRCm39)	I527F	probably damaging	Het
Pspc1	A	G	14: 56,999,305 (GRCm39)	M317T	probably damaging	Het
Ptpru	C	T	4: 131,525,180 (GRCm39)	V768I	probably benign	Het
Ptx4	A	G	17: 25,343,546 (GRCm39)		probably null	Het
Ralgapb	T	C	2: 158,274,842 (GRCm39)		probably null	Het
Rhobtb2	C	A	14: 70,034,703 (GRCm39)	G174V	probably damaging	Het
Sdad1	G	T	5: 92,446,080 (GRCm39)	S285*	probably null	Het
Sema4f	G	T	6: 82,890,626 (GRCm39)	S727*	probably null	Het
Sik1	A	G	17: 32,069,727 (GRCm39)	F241L	probably damaging	Het
Slc8b1	T	C	5: 120,662,096 (GRCm39)	S279P	probably benign	Het
Slco4a1	A	G	2: 180,106,034 (GRCm39)	E72G	probably benign	Het
Smok3c	A	T	5: 138,063,781 (GRCm39)	T423S	possibly damaging	Het
Sorcs3	T	C	19: 48,784,811 (GRCm39)	V1078A	probably benign	Het
Sptb	A	G	12: 76,673,776 (GRCm39)	V337A	probably damaging	Het
Tet2	C	A	3: 133,173,933 (GRCm39)	G1443V	probably damaging	Het
Ticam2	A	T	18: 46,694,048 (GRCm39)	L13H	probably damaging	Het
Tnrc6a	A	G	7: 122,786,624 (GRCm39)	E1562G	probably damaging	Het
Trim24	A	T	6: 37,934,074 (GRCm39)	K742N	probably damaging	Het
Trim56	A	T	5: 137,142,751 (GRCm39)	V255E	probably damaging	Het
Trmt12	A	G	15: 58,744,608 (GRCm39)	E2G	probably benign	Het
Tubd1	A	T	11: 86,452,091 (GRCm39)	T353S	probably benign	Het
Vmn2r58	A	T	7: 41,513,431 (GRCm39)	V404E	probably damaging	Het
Wdr62	G	A	7: 29,941,874 (GRCm39)	P1115L	probably damaging	Het
Wfdc12	G	T	2: 164,032,193 (GRCm39)	C32*	probably null	Het
Zfp750	T	A	11: 121,403,980 (GRCm39)	R298S	probably damaging	Het

Other mutations in Vim

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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'- AGCTATGTGACCACGTCCAC -3'
(R):5'- TTGGTGAGCTGATCCACCTG -3'

Sequencing Primer
(F):5'- ACACGCACCTACAGTCTGGG -3'
(R):5'- CTGATCCACCTGCCGGC -3'

Posted On

2022-02-07