Incidental Mutation 'IGL01546:Vcam1'
ID90339
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Vcam1
Ensembl Gene ENSMUSG00000027962
Gene Namevascular cell adhesion molecule 1
SynonymsVcam-1, CD106
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.451) question?
Stock #IGL01546
Quality Score
Status
Chromosome3
Chromosomal Location116109949-116129688 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 116115942 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Arginine at position 579 (C579R)
Ref Sequence ENSEMBL: ENSMUSP00000029574 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029574]
Predicted Effect possibly damaging
Transcript: ENSMUST00000029574
AA Change: C579R

PolyPhen 2 Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000029574
Gene: ENSMUSG00000027962
AA Change: C579R

DomainStartEndE-ValueType
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
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 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: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700016D06Rik T A 8: 11,656,136 M133L probably benign Het
Amdhd2 C A 17: 24,163,600 R22L probably benign Het
Arg2 T C 12: 79,149,859 probably benign Het
Catip T C 1: 74,362,795 L43P probably damaging Het
Ccdc30 A C 4: 119,398,188 L123R probably damaging Het
Cep89 T C 7: 35,420,900 L369P probably damaging Het
Dolpp1 T C 2: 30,397,095 F180L probably damaging Het
Kctd19 T C 8: 105,386,962 H670R probably benign Het
Kntc1 T A 5: 123,765,005 I315N probably benign Het
Mfsd4b2 A T 10: 39,921,475 W295R probably damaging Het
Mgam A G 6: 40,654,693 T116A probably damaging Het
Mn1 A T 5: 111,421,248 D1028V probably damaging Het
Olfr19 A G 16: 16,673,265 S239P probably damaging Het
Olfr23 G A 11: 73,941,194 G316D probably benign Het
Olfr592 A T 7: 103,187,410 I270F probably damaging Het
Olfr690 T C 7: 105,329,692 R167G probably damaging Het
Olfr694 A G 7: 106,689,531 S67P probably damaging Het
Olfr845 T G 9: 19,338,772 V104G possibly damaging Het
Phc3 C A 3: 30,961,739 A108S probably damaging Het
Pkhd1l1 A G 15: 44,566,316 Y3310C probably damaging Het
Ppp4r3b T C 11: 29,209,488 probably null Het
Slx4ip A G 2: 137,066,199 T159A probably benign Het
Sos1 T A 17: 80,408,611 Y974F probably damaging Het
Taar8a A T 10: 24,076,915 Y139F possibly damaging Het
Zdhhc17 C T 10: 110,946,193 V547M probably damaging Het
Other mutations in Vcam1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00717:Vcam1 APN 3 116114471 missense possibly damaging 0.85
IGL01548:Vcam1 APN 3 116115951 missense probably benign 0.06
IGL02070:Vcam1 APN 3 116125997 missense probably benign 0.07
IGL02353:Vcam1 APN 3 116115894 missense possibly damaging 0.53
IGL02360:Vcam1 APN 3 116115894 missense possibly damaging 0.53
K7371:Vcam1 UTSW 3 116124649 missense probably benign 0.00
R0310:Vcam1 UTSW 3 116114416 missense possibly damaging 0.93
R0319:Vcam1 UTSW 3 116116060 missense probably benign 0.01
R0468:Vcam1 UTSW 3 116115946 nonsense probably null
R0638:Vcam1 UTSW 3 116117259 missense possibly damaging 0.71
R1070:Vcam1 UTSW 3 116110903 missense possibly damaging 0.96
R1728:Vcam1 UTSW 3 116114515 missense probably benign 0.16
R1784:Vcam1 UTSW 3 116114515 missense probably benign 0.16
R1956:Vcam1 UTSW 3 116125957 missense probably damaging 1.00
R1957:Vcam1 UTSW 3 116125957 missense probably damaging 1.00
R3052:Vcam1 UTSW 3 116124430 unclassified probably null
R3832:Vcam1 UTSW 3 116114491 missense possibly damaging 0.71
R4297:Vcam1 UTSW 3 116117243 missense probably benign
R4801:Vcam1 UTSW 3 116115935 missense probably damaging 0.98
R4802:Vcam1 UTSW 3 116115935 missense probably damaging 0.98
R4970:Vcam1 UTSW 3 116117292 missense probably benign 0.00
R5073:Vcam1 UTSW 3 116124388 missense probably damaging 1.00
R5074:Vcam1 UTSW 3 116124388 missense probably damaging 1.00
R5112:Vcam1 UTSW 3 116117292 missense probably benign 0.00
R5597:Vcam1 UTSW 3 116126002 missense probably damaging 0.99
R6035:Vcam1 UTSW 3 116125957 missense probably damaging 1.00
R6035:Vcam1 UTSW 3 116125957 missense probably damaging 1.00
R6120:Vcam1 UTSW 3 116124400 missense probably damaging 0.99
R6617:Vcam1 UTSW 3 116126062 missense possibly damaging 0.48
R7232:Vcam1 UTSW 3 116125979 missense possibly damaging 0.71
R7350:Vcam1 UTSW 3 116114562 missense probably damaging 0.99
R7384:Vcam1 UTSW 3 116117228 missense possibly damaging 0.81
R7571:Vcam1 UTSW 3 116114383 nonsense probably null
Posted On2013-12-03