Incidental Mutation 'IGL01128:Bves'
ID52141
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Bves
Ensembl Gene ENSMUSG00000071317
Gene Nameblood vessel epicardial substance
SynonymsPopdc1, popeye 1
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01128
Quality Score
Status
Chromosome10
Chromosomal Location45335772-45372479 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 45353848 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Leucine at position 249 (F249L)
Ref Sequence ENSEMBL: ENSMUSP00000093382 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095715]
Predicted Effect probably damaging
Transcript: ENSMUST00000095715
AA Change: F249L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000093382
Gene: ENSMUSG00000071317
AA Change: F249L

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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110038F14Rik G A 15: 76,950,275 V124I probably damaging Het
Adgrf5 G T 17: 43,422,509 D75Y possibly damaging Het
Aen G A 7: 78,907,302 M299I probably damaging Het
Ahi1 A G 10: 21,074,433 T128A probably benign Het
Capns1 T C 7: 30,190,133 I214V probably benign Het
Cgnl1 G T 9: 71,724,561 Q503K possibly damaging Het
Ep300 A G 15: 81,630,006 probably benign Het
Fam117b T A 1: 59,969,018 F337Y probably damaging Het
Fam178b A T 1: 36,644,354 V95E probably damaging Het
Gak T A 5: 108,592,370 M560L probably damaging Het
Gna11 C A 10: 81,530,884 A331S probably damaging Het
Gtf3c3 A C 1: 54,428,876 F201V possibly damaging Het
Kat6b G A 14: 21,660,860 R734H probably benign Het
Lag3 T C 6: 124,909,417 D191G probably damaging Het
Mttp T A 3: 138,133,997 probably null Het
Nlgn3 A T X: 101,320,092 T790S probably benign Het
Olfr1487 G A 19: 13,619,746 E195K probably damaging Het
Olfr743 A G 14: 50,533,949 D179G probably damaging Het
Pkd2l2 T A 18: 34,417,015 Y238N probably damaging Het
Plg A T 17: 12,396,699 probably benign Het
Ptprm A T 17: 67,042,101 C376S probably damaging Het
Rexo1 T C 10: 80,549,739 D495G probably benign Het
Rims1 A T 1: 22,534,175 V315D probably damaging Het
Ros1 G A 10: 52,142,328 Q745* probably null Het
Satb1 A G 17: 51,805,289 V99A probably damaging Het
Sema3e C T 5: 14,232,115 P422S probably damaging Het
Stkld1 G T 2: 26,951,471 W476L probably benign Het
Syna T C 5: 134,559,480 D205G probably damaging Het
Tas2r134 G T 2: 51,627,659 C50F probably damaging Het
Togaram1 A G 12: 64,980,876 T880A probably benign Het
Uckl1 T C 2: 181,570,337 E363G probably damaging Het
Yeats2 T A 16: 20,161,968 probably benign Het
Other mutations in Bves
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01155:Bves APN 10 45353859 missense probably damaging 1.00
IGL01482:Bves APN 10 45354806 missense possibly damaging 0.68
R1402:Bves UTSW 10 45347865 missense probably damaging 1.00
R1402:Bves UTSW 10 45347865 missense probably damaging 1.00
R1564:Bves UTSW 10 45369281 missense probably benign 0.03
R1711:Bves UTSW 10 45347865 missense probably damaging 1.00
R1742:Bves UTSW 10 45347865 missense probably damaging 1.00
R2057:Bves UTSW 10 45343135 missense probably damaging 1.00
R3113:Bves UTSW 10 45343052 missense probably benign 0.01
R3546:Bves UTSW 10 45354811 missense probably damaging 1.00
R4400:Bves UTSW 10 45369293 missense probably benign
R4612:Bves UTSW 10 45339277 missense probably benign 0.01
R4687:Bves UTSW 10 45354840 splice site probably null
R6994:Bves UTSW 10 45339418 missense probably benign
R7052:Bves UTSW 10 45346290 missense possibly damaging 0.69
R7179:Bves UTSW 10 45354817 missense probably damaging 1.00
Posted On2013-06-21