Incidental Mutation 'IGL01155:Bves'
ID52179
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 #IGL01155
Quality Score
Status
Chromosome10
Chromosomal Location45335772-45372479 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 45353859 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Lysine at position 253 (I253K)
Ref Sequence ENSEMBL: ENSMUSP00000093382 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095715]
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

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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110038F14Rik G A 15: 76,950,275 V124I probably damaging Het
Adgrl3 T A 5: 81,560,893 I409N probably benign Het
Akap13 A G 7: 75,569,936 D29G probably damaging Het
Ap4e1 C A 2: 127,043,445 T322K probably damaging Het
Arfgef1 G A 1: 10,198,982 probably benign Het
Asic5 A G 3: 82,008,588 T282A probably benign Het
Bptf T C 11: 107,080,727 T985A probably damaging Het
Btnl9 A G 11: 49,175,691 F349L probably damaging Het
Cars T A 7: 143,569,849 Y455F probably benign Het
Cfap206 C T 4: 34,721,562 S162N probably damaging Het
Cuedc2 C A 19: 46,332,649 V15F probably damaging Het
Defa22 T A 8: 21,163,037 probably null Het
Fat1 G A 8: 45,023,949 A2011T probably damaging Het
Fyb2 C T 4: 104,999,386 T533I probably benign Het
Gm1043 T C 5: 37,187,089 L182P probably damaging Het
Ice1 A T 13: 70,604,082 V1295E possibly damaging Het
Il12b T A 11: 44,404,088 S18T probably benign Het
Iqcg A G 16: 33,040,875 V157A probably damaging Het
Itgax T A 7: 128,145,035 M937K probably benign Het
Large1 T C 8: 73,131,989 S84G probably benign Het
Lrp1b T C 2: 41,770,935 T54A probably benign Het
Mfn1 A G 3: 32,542,836 M148V probably damaging Het
Mobp C A 9: 120,168,234 T73K probably benign Het
Ms4a3 T C 19: 11,629,655 probably benign Het
Muc5ac C T 7: 141,806,943 probably benign Het
Mzt2 A C 16: 15,862,410 S104A possibly damaging Het
Naa16 T A 14: 79,384,715 K27N probably damaging Het
Nos1 T A 5: 117,945,926 I1267N probably damaging Het
Olfr16 T A 1: 172,956,924 I43N probably benign Het
Rara A G 11: 98,968,184 E153G possibly damaging Het
Scn2a T G 2: 65,717,748 S66A probably damaging Het
Slc6a1 A T 6: 114,314,465 probably null Het
Sorbs3 A G 14: 70,199,341 V136A probably damaging Het
Spink5 T A 18: 43,981,147 H143Q probably benign Het
Susd2 G A 10: 75,640,892 T99I possibly damaging Het
T C T 17: 8,441,745 probably null Het
Tac2 G A 10: 127,726,134 probably null Het
Tfap4 G T 16: 4,547,359 P180T probably damaging Het
Trap1 G A 16: 4,043,978 Q641* probably null Het
Unc119 A G 11: 78,348,609 N252S probably damaging Het
Other mutations in Bves
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01128:Bves APN 10 45353848 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