Incidental Mutation 'IGL01482:Bves'
ID 88660
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Bves
Ensembl Gene ENSMUSG00000071317
Gene Name blood vessel epicardial substance
Synonyms Popdc1, popeye 1
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01482
Quality Score
Status
Chromosome 10
Chromosomal Location 45211868-45248575 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 45230902 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 291 (E291G)
Ref Sequence ENSEMBL: ENSMUSP00000093382 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095715]
AlphaFold Q9ES83
Predicted Effect possibly damaging
Transcript: ENSMUST00000095715
AA Change: E291G

PolyPhen 2 Score 0.679 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000093382
Gene: ENSMUSG00000071317
AA Change: E291G

DomainStartEndE-ValueType
Pfam:Popeye 40 267 3e-90 PFAM
low complexity region 313 323 N/A INTRINSIC
low complexity region 336 347 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213557
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 encodes a member of the POP family of proteins containing three putative transmembrane domains. This gene is expressed in cardiac and skeletal muscle and may play an important role in development of these tissues. The mouse ortholog may be involved in the regeneration of adult skeletal muscle and may act as a cell adhesion molecule in coronary vasculogenesis. Three transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Dec 2010]
PHENOTYPE: Homozygous mutation of this gene results in delayed muscle regeneration following induced injury. Mice homozygous for a knock-out allele exhibit sinus brachycardia in response to physical or mental stress and catecholamines with a compact sinoatrial node. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110009E18Rik A T 1: 120,099,201 (GRCm39) D98V probably benign Het
Aatf G A 11: 84,361,536 (GRCm39) R356C possibly damaging Het
Abca15 A T 7: 119,981,969 (GRCm39) T1095S probably benign Het
Abca9 A G 11: 110,011,599 (GRCm39) F1148S probably benign Het
Adam12 G T 7: 133,569,577 (GRCm39) D299E probably damaging Het
Alyref A T 11: 120,486,762 (GRCm39) N166K possibly damaging Het
Atxn1 A T 13: 45,710,790 (GRCm39) I714N probably benign Het
Chrm2 A G 6: 36,500,692 (GRCm39) N183S possibly damaging Het
Dennd2a T C 6: 39,457,243 (GRCm39) H733R probably damaging Het
Erbb3 C T 10: 128,408,798 (GRCm39) G762S possibly damaging Het
Gm29326 A C 7: 29,260,136 (GRCm39) noncoding transcript Het
Itgb2l A T 16: 96,239,948 (GRCm39) L17Q probably damaging Het
Jade1 T A 3: 41,567,937 (GRCm39) D668E probably benign Het
Ksr1 G A 11: 78,927,409 (GRCm39) T308I probably damaging Het
Mfap4 A G 11: 61,378,583 (GRCm39) D177G probably damaging Het
Mmut C T 17: 41,267,162 (GRCm39) R579C probably damaging Het
Muc2 A T 7: 141,307,797 (GRCm39) I369F probably damaging Het
Myh13 A T 11: 67,242,894 (GRCm39) M936L probably benign Het
Nckap5 G T 1: 125,950,897 (GRCm39) S1598Y probably damaging Het
Nlrp10 T A 7: 108,526,159 (GRCm39) M60L probably benign Het
Nlrp12 T C 7: 3,283,790 (GRCm39) N739S possibly damaging Het
Or5p58 A C 7: 107,694,693 (GRCm39) V28G probably benign Het
Pappa A T 4: 65,074,271 (GRCm39) H275L probably benign Het
Plekhm2 A G 4: 141,357,340 (GRCm39) S711P probably damaging Het
Ptpn1 G A 2: 167,809,712 (GRCm39) V107M probably damaging Het
Ptprf G A 4: 118,069,651 (GRCm39) R1498C probably damaging Het
Rhobtb2 A G 14: 70,034,037 (GRCm39) I396T possibly damaging Het
Ryr1 A G 7: 28,751,762 (GRCm39) F3668S probably damaging Het
Serpinb6d T C 13: 33,855,346 (GRCm39) V340A probably benign Het
Silc1 T A 12: 27,191,893 (GRCm39) noncoding transcript Het
Spaca3 G T 11: 80,758,510 (GRCm39) V158L probably benign Het
Tdp1 A G 12: 99,857,639 (GRCm39) N66S probably benign Het
Tmem132d A T 5: 128,346,270 (GRCm39) I84N probably damaging Het
Uggt2 T A 14: 119,295,057 (GRCm39) D523V probably damaging Het
Usp17la A T 7: 104,508,600 (GRCm39) M1L probably benign Het
Yeats2 C T 16: 20,041,671 (GRCm39) T1202I probably damaging Het
Other mutations in Bves
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01128:Bves APN 10 45,229,944 (GRCm39) missense probably damaging 1.00
IGL01155:Bves APN 10 45,229,955 (GRCm39) missense probably damaging 1.00
R1402:Bves UTSW 10 45,223,961 (GRCm39) missense probably damaging 1.00
R1402:Bves UTSW 10 45,223,961 (GRCm39) missense probably damaging 1.00
R1564:Bves UTSW 10 45,245,377 (GRCm39) missense probably benign 0.03
R1711:Bves UTSW 10 45,223,961 (GRCm39) missense probably damaging 1.00
R1742:Bves UTSW 10 45,223,961 (GRCm39) missense probably damaging 1.00
R2057:Bves UTSW 10 45,219,231 (GRCm39) missense probably damaging 1.00
R3113:Bves UTSW 10 45,219,148 (GRCm39) missense probably benign 0.01
R3546:Bves UTSW 10 45,230,907 (GRCm39) missense probably damaging 1.00
R4400:Bves UTSW 10 45,245,389 (GRCm39) missense probably benign
R4612:Bves UTSW 10 45,215,373 (GRCm39) missense probably benign 0.01
R4687:Bves UTSW 10 45,230,936 (GRCm39) splice site probably null
R6994:Bves UTSW 10 45,215,514 (GRCm39) missense probably benign
R7052:Bves UTSW 10 45,222,386 (GRCm39) missense possibly damaging 0.69
R7179:Bves UTSW 10 45,230,913 (GRCm39) missense probably damaging 1.00
Posted On 2013-11-18