Incidental Mutation 'IGL01155:Bves'
ID 52179
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 # IGL01155
Quality Score
Chromosome 10
Chromosomal Location 45211868-45248575 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 45229955 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Lysine at position 253 (I253K)
Ref Sequence ENSEMBL: ENSMUSP00000093382 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095715]
AlphaFold Q9ES83
Predicted Effect probably damaging
Transcript: ENSMUST00000095715
AA Change: I253K

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000093382
Gene: ENSMUSG00000071317
AA Change: I253K

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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110038F14Rik G A 15: 76,834,475 (GRCm39) V124I probably damaging Het
Adgrl3 T A 5: 81,708,740 (GRCm39) I409N probably benign Het
Akap13 A G 7: 75,219,684 (GRCm39) D29G probably damaging Het
Ap4e1 C A 2: 126,885,365 (GRCm39) T322K probably damaging Het
Arfgef1 G A 1: 10,269,207 (GRCm39) probably benign Het
Asic5 A G 3: 81,915,895 (GRCm39) T282A probably benign Het
Bptf T C 11: 106,971,553 (GRCm39) T985A probably damaging Het
Btnl9 A G 11: 49,066,518 (GRCm39) F349L probably damaging Het
Cars1 T A 7: 143,123,586 (GRCm39) Y455F probably benign Het
Cfap206 C T 4: 34,721,562 (GRCm39) S162N probably damaging Het
Cuedc2 C A 19: 46,321,088 (GRCm39) V15F probably damaging Het
Defa22 T A 8: 21,653,053 (GRCm39) probably null Het
Fat1 G A 8: 45,476,986 (GRCm39) A2011T probably damaging Het
Fyb2 C T 4: 104,856,583 (GRCm39) T533I probably benign Het
Gm1043 T C 5: 37,344,433 (GRCm39) L182P probably damaging Het
Ice1 A T 13: 70,752,201 (GRCm39) V1295E possibly damaging Het
Il12b T A 11: 44,294,915 (GRCm39) S18T probably benign Het
Iqcg A G 16: 32,861,245 (GRCm39) V157A probably damaging Het
Itgax T A 7: 127,744,207 (GRCm39) M937K probably benign Het
Large1 T C 8: 73,858,617 (GRCm39) S84G probably benign Het
Lrp1b T C 2: 41,660,947 (GRCm39) T54A probably benign Het
Mfn1 A G 3: 32,596,985 (GRCm39) M148V probably damaging Het
Mobp C A 9: 119,997,300 (GRCm39) T73K probably benign Het
Ms4a3 T C 19: 11,607,019 (GRCm39) probably benign Het
Muc5ac C T 7: 141,360,680 (GRCm39) probably benign Het
Mzt2 A C 16: 15,680,274 (GRCm39) S104A possibly damaging Het
Naa16 T A 14: 79,622,155 (GRCm39) K27N probably damaging Het
Nos1 T A 5: 118,083,991 (GRCm39) I1267N probably damaging Het
Or10j5 T A 1: 172,784,491 (GRCm39) I43N probably benign Het
Rara A G 11: 98,859,010 (GRCm39) E153G possibly damaging Het
Scn2a T G 2: 65,548,092 (GRCm39) S66A probably damaging Het
Slc6a1 A T 6: 114,291,426 (GRCm39) probably null Het
Sorbs3 A G 14: 70,436,790 (GRCm39) V136A probably damaging Het
Spink5 T A 18: 44,114,214 (GRCm39) H143Q probably benign Het
Susd2 G A 10: 75,476,726 (GRCm39) T99I possibly damaging Het
T C T 17: 8,660,577 (GRCm39) probably null Het
Tac2 G A 10: 127,562,003 (GRCm39) probably null Het
Tfap4 G T 16: 4,365,223 (GRCm39) P180T probably damaging Het
Trap1 G A 16: 3,861,842 (GRCm39) Q641* probably null Het
Unc119 A G 11: 78,239,435 (GRCm39) N252S probably damaging Het
Other mutations in Bves
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01128:Bves APN 10 45,229,944 (GRCm39) missense probably damaging 1.00
IGL01482:Bves APN 10 45,230,902 (GRCm39) missense possibly damaging 0.68
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 2013-06-21