Mutagenetix > Incidental Mutation

Incidental Mutation 'R0638:Vcam1'

56799

Institutional Source

Beutler Lab

Gene Symbol

Vcam1

Ensembl Gene

ENSMUSG00000027962

Gene Name

vascular cell adhesion molecule 1

Synonyms

CD106, Vcam-1

MMRRC Submission

038827-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.504) question?

Stock #

R0638 (G1)

Quality Score

188

Status

Validated

Chromosome

Chromosomal Location

115903669-115923337 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 115910908 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 497 (K497E)

Ref Sequence

ENSEMBL: ENSMUSP00000029574 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029574]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000029574
AA Change: K497E

PolyPhen 2 Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000029574
Gene: ENSMUSG00000027962
AA Change: K497E

Domain	Start	End	E-Value	Type
IG	32	113	2.41e-6	SMART
Pfam:C2-set	133	221	4.5e-27	PFAM
IGc2	237	298	2.09e-15	SMART
IGc2	326	390	8.38e-6	SMART
Pfam:C2-set	421	509	7.2e-26	PFAM
IGc2	525	586	7.35e-11	SMART
IG	608	686	2.25e-6	SMART
transmembrane domain	699	721	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197031

Meta Mutation Damage Score

0.7800

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.1%
20x: 93.5%

Validation Efficiency

99% (76/77)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the Ig superfamily and encodes a cell surface sialoglycoprotein expressed by cytokine-activated endothelium. This type I membrane protein mediates leukocyte-endothelial cell adhesion and signal transduction, and may play a role in the development of artherosclerosis and rheumatoid arthritis. Three alternatively spliced transcripts encoding different isoforms have been described for this gene. [provided by RefSeq, Dec 2010]
PHENOTYPE: Most homozygous null mutants die by embryonic day 12.5 due to defective placenta and failure of chorion/allantois fusion, and heart developmental anomalies. Survivors are generally normal, but have high numbers of circulating blood mononuclear leukocytes. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	C	A	2: 68,547,572 (GRCm39)	Q161K	probably benign	Het
Aatk	A	T	11: 119,900,748 (GRCm39)	L1216Q	probably damaging	Het
Aifm3	T	C	16: 17,321,535 (GRCm39)	F463L	possibly damaging	Het
Antxr2	C	T	5: 98,108,496 (GRCm39)	W338*	probably null	Het
Apc2	T	C	10: 80,140,801 (GRCm39)	S219P	probably damaging	Het
Arfgap3	A	T	15: 83,192,389 (GRCm39)		probably null	Het
Arrdc5	A	G	17: 56,607,020 (GRCm39)	V75A	possibly damaging	Het
Atg16l2	A	T	7: 100,949,317 (GRCm39)		probably null	Het
Cacna1i	A	G	15: 80,265,281 (GRCm39)	N1511S	possibly damaging	Het
Cad	T	C	5: 31,235,032 (GRCm39)	Y2095H	probably damaging	Het
Chia1	T	C	3: 106,035,753 (GRCm39)		probably benign	Het
Crybg2	A	G	4: 133,801,765 (GRCm39)	D975G	probably damaging	Het
Dagla	T	C	19: 10,232,247 (GRCm39)	I480V	probably damaging	Het
Efl1	C	T	7: 82,301,095 (GRCm39)	T33I	probably damaging	Het
Esp36	A	G	17: 38,728,060 (GRCm39)	F74L	probably benign	Het
Faim	T	C	9: 98,874,149 (GRCm39)		probably benign	Het
Fam83h	G	T	15: 75,875,776 (GRCm39)	H520Q	probably benign	Het
Fbn2	A	T	18: 58,178,446 (GRCm39)	C1931S	probably damaging	Het
Frs3	A	G	17: 48,012,581 (GRCm39)	D96G	probably benign	Het
Gbp4	A	G	5: 105,269,706 (GRCm39)	M374T	probably damaging	Het
Gimap1	C	T	6: 48,718,359 (GRCm39)		probably benign	Het
Gm10010	A	G	6: 128,177,576 (GRCm39)		noncoding transcript	Het
Gm10355	T	C	3: 101,214,214 (GRCm39)		noncoding transcript	Het
Gmip	C	T	8: 70,264,095 (GRCm39)		probably benign	Het
Gpc2	A	T	5: 138,276,796 (GRCm39)	F110Y	possibly damaging	Het
Ifi44l	C	T	3: 151,468,396 (GRCm39)	V45M	probably benign	Het
Il15	T	C	8: 83,069,890 (GRCm39)	E58G	probably damaging	Het
Kat2b	T	C	17: 53,951,771 (GRCm39)		probably benign	Het
Kcnh7	C	A	2: 62,607,854 (GRCm39)	V576L	probably benign	Het
Lrrc66	T	A	5: 73,772,816 (GRCm39)		probably benign	Het
Mical1	A	G	10: 41,358,235 (GRCm39)	E416G	probably benign	Het
Mroh3	A	G	1: 136,118,740 (GRCm39)	Y526H	probably damaging	Het
Mtx2	T	C	2: 74,699,634 (GRCm39)		probably benign	Het
Naip6	A	T	13: 100,437,036 (GRCm39)	Y496N	probably benign	Het
Nfyc	A	G	4: 120,626,081 (GRCm39)	S73P	probably benign	Het
Or10v9	C	T	19: 11,832,487 (GRCm39)	V277M	probably damaging	Het
Or10v9	A	C	19: 11,832,732 (GRCm39)	V195G	probably damaging	Het
Or1e23	T	A	11: 73,407,750 (GRCm39)	I92F	probably damaging	Het
Or5ak25	A	G	2: 85,268,845 (GRCm39)	I219T	probably benign	Het
Or6c69b	T	A	10: 129,627,101 (GRCm39)	D119V	probably damaging	Het
P2ry14	A	G	3: 59,022,869 (GRCm39)	V206A	probably benign	Het
Polg	G	A	7: 79,109,896 (GRCm39)		probably benign	Het
Potefam1	T	C	2: 111,030,763 (GRCm39)	E382G	probably damaging	Het
Ptgs1	G	A	2: 36,130,868 (GRCm39)		probably benign	Het
Pus7l	A	G	15: 94,421,298 (GRCm39)	S671P	probably benign	Het
Ralgapa2	T	C	2: 146,184,112 (GRCm39)	T1547A	probably benign	Het
Rif1	T	C	2: 52,001,600 (GRCm39)	S1685P	probably benign	Het
Rnf213	T	C	11: 119,361,036 (GRCm39)	Y4452H	probably damaging	Het
Samd7	A	G	3: 30,810,670 (GRCm39)	D229G	probably benign	Het
Serpina3j	T	C	12: 104,281,078 (GRCm39)	S84P	possibly damaging	Het
Slc35d1	A	G	4: 103,070,441 (GRCm39)		probably benign	Het
Sorbs2	A	G	8: 46,249,347 (GRCm39)	D847G	probably damaging	Het
Sp110	A	C	1: 85,505,050 (GRCm39)	F434C	probably benign	Het
Steap4	T	C	5: 8,027,030 (GRCm39)		probably benign	Het
Tg	A	C	15: 66,589,057 (GRCm39)	T13P	probably damaging	Het
Timeless	T	A	10: 128,080,542 (GRCm39)	Y474*	probably null	Het
Tmem94	T	C	11: 115,682,886 (GRCm39)		probably null	Het
Trdmt1	G	A	2: 13,521,459 (GRCm39)		probably benign	Het
Trim23	T	C	13: 104,337,817 (GRCm39)	Y522H	probably benign	Het
Ttc13	A	T	8: 125,401,105 (GRCm39)	S624T	probably damaging	Het
Txnl1	A	G	18: 63,825,135 (GRCm39)		probably benign	Het
Unkl	T	C	17: 25,427,057 (GRCm39)		probably benign	Het
Usp54	T	A	14: 20,639,437 (GRCm39)		probably benign	Het
Vmn1r49	C	A	6: 90,049,648 (GRCm39)	S118I	possibly damaging	Het
Vmn2r118	T	C	17: 55,915,466 (GRCm39)	K495E	probably benign	Het
Wrnip1	G	A	13: 33,005,073 (GRCm39)	C560Y	possibly damaging	Het
Xkr5	T	C	8: 18,983,563 (GRCm39)	R660G	probably benign	Het
Zfp280c	A	G	X: 47,637,580 (GRCm39)		probably benign	Het
Zfp707	G	A	15: 75,846,978 (GRCm39)	A291T	possibly damaging	Het

Other mutations in Vcam1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00717:Vcam1	APN	3	115,908,120 (GRCm39)	missense	possibly damaging	0.85
IGL01546:Vcam1	APN	3	115,909,591 (GRCm39)	missense	possibly damaging	0.86
IGL01548:Vcam1	APN	3	115,909,600 (GRCm39)	missense	probably benign	0.06
IGL02070:Vcam1	APN	3	115,919,646 (GRCm39)	missense	probably benign	0.07
IGL02353:Vcam1	APN	3	115,909,543 (GRCm39)	missense	possibly damaging	0.53
IGL02360:Vcam1	APN	3	115,909,543 (GRCm39)	missense	possibly damaging	0.53
K7371:Vcam1	UTSW	3	115,918,298 (GRCm39)	missense	probably benign	0.00
R0310:Vcam1	UTSW	3	115,908,065 (GRCm39)	missense	possibly damaging	0.93
R0319:Vcam1	UTSW	3	115,909,709 (GRCm39)	missense	probably benign	0.01
R0468:Vcam1	UTSW	3	115,909,595 (GRCm39)	nonsense	probably null
R1070:Vcam1	UTSW	3	115,904,552 (GRCm39)	missense	possibly damaging	0.96
R1728:Vcam1	UTSW	3	115,908,164 (GRCm39)	missense	probably benign	0.16
R1784:Vcam1	UTSW	3	115,908,164 (GRCm39)	missense	probably benign	0.16
R1956:Vcam1	UTSW	3	115,919,606 (GRCm39)	missense	probably damaging	1.00
R1957:Vcam1	UTSW	3	115,919,606 (GRCm39)	missense	probably damaging	1.00
R3052:Vcam1	UTSW	3	115,918,079 (GRCm39)	splice site	probably null
R3832:Vcam1	UTSW	3	115,908,140 (GRCm39)	missense	possibly damaging	0.71
R4297:Vcam1	UTSW	3	115,910,892 (GRCm39)	missense	probably benign
R4801:Vcam1	UTSW	3	115,909,584 (GRCm39)	missense	probably damaging	0.98
R4802:Vcam1	UTSW	3	115,909,584 (GRCm39)	missense	probably damaging	0.98
R4970:Vcam1	UTSW	3	115,910,941 (GRCm39)	missense	probably benign	0.00
R5073:Vcam1	UTSW	3	115,918,037 (GRCm39)	missense	probably damaging	1.00
R5074:Vcam1	UTSW	3	115,918,037 (GRCm39)	missense	probably damaging	1.00
R5112:Vcam1	UTSW	3	115,910,941 (GRCm39)	missense	probably benign	0.00
R5597:Vcam1	UTSW	3	115,919,651 (GRCm39)	missense	probably damaging	0.99
R6035:Vcam1	UTSW	3	115,919,606 (GRCm39)	missense	probably damaging	1.00
R6035:Vcam1	UTSW	3	115,919,606 (GRCm39)	missense	probably damaging	1.00
R6120:Vcam1	UTSW	3	115,918,049 (GRCm39)	missense	probably damaging	0.99
R6617:Vcam1	UTSW	3	115,919,711 (GRCm39)	missense	possibly damaging	0.48
R7232:Vcam1	UTSW	3	115,919,628 (GRCm39)	missense	possibly damaging	0.71
R7350:Vcam1	UTSW	3	115,908,211 (GRCm39)	missense	probably damaging	0.99
R7384:Vcam1	UTSW	3	115,910,877 (GRCm39)	missense	possibly damaging	0.81
R7571:Vcam1	UTSW	3	115,908,032 (GRCm39)	nonsense	probably null
R7606:Vcam1	UTSW	3	115,914,704 (GRCm39)	missense	possibly damaging	0.91
R7742:Vcam1	UTSW	3	115,909,734 (GRCm39)	missense	possibly damaging	0.71
R8151:Vcam1	UTSW	3	115,918,128 (GRCm39)	missense	possibly damaging	0.71
R8965:Vcam1	UTSW	3	115,922,422 (GRCm39)	nonsense	probably null
R8997:Vcam1	UTSW	3	115,910,977 (GRCm39)	missense	probably benign
R9182:Vcam1	UTSW	3	115,911,004 (GRCm39)	missense	probably benign
R9224:Vcam1	UTSW	3	115,904,592 (GRCm39)	nonsense	probably null
R9540:Vcam1	UTSW	3	115,911,019 (GRCm39)	missense	possibly damaging	0.78
R9725:Vcam1	UTSW	3	115,922,287 (GRCm39)	missense	possibly damaging	0.51
R9729:Vcam1	UTSW	3	115,911,105 (GRCm39)	missense	probably damaging	1.00
Z1176:Vcam1	UTSW	3	115,922,990 (GRCm39)	missense	not run

Predicted Primers

PCR Primer
(F):5'- GCTGACCCAGTCCTGAATGCTAATG -3'
(R):5'- TGTCACTGTCAACTGCACAGTCCC -3'

Sequencing Primer
(F):5'- tcctgaatgctaatgcatagaatc -3'
(R):5'- AACTGCACAGTCCCTAATGTGTATC -3'

Posted On

2013-07-11