Incidental Mutation 'IGL02418:Acsbg2'
ID 292552
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Acsbg2
Ensembl Gene ENSMUSG00000024207
Gene Name acyl-CoA synthetase bubblegum family member 2
Synonyms Bgr
Accession Numbers
Essential gene? Probably non essential (E-score: 0.063) question?
Stock # IGL02418
Quality Score
Status
Chromosome 17
Chromosomal Location 57150103-57181447 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 57156730 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 436 (V436A)
Ref Sequence ENSEMBL: ENSMUSP00000042352 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043062]
AlphaFold Q2XU92
Predicted Effect probably benign
Transcript: ENSMUST00000043062
AA Change: V436A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000042352
Gene: ENSMUSG00000024207
AA Change: V436A

DomainStartEndE-ValueType
Pfam:AMP-binding 53 519 7e-93 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Phenotypic analysis of mice homozygous for a gene trap allele indicates this mutation has no notable phenotype in any parameter tested. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi3bp T A 16: 56,424,479 (GRCm39) probably benign Het
Afap1l1 T C 18: 61,885,648 (GRCm39) D156G probably damaging Het
Arhgap21 G A 2: 20,885,711 (GRCm39) R489C probably damaging Het
Arhgap26 G A 18: 39,490,620 (GRCm39) probably benign Het
Bbs5 T G 2: 69,485,849 (GRCm39) *89G probably null Het
Ceacam5 A T 7: 17,493,359 (GRCm39) Y794F possibly damaging Het
Ces3b T C 8: 105,812,279 (GRCm39) V176A probably damaging Het
Cfi A G 3: 129,642,461 (GRCm39) H105R probably benign Het
Chat C T 14: 32,168,906 (GRCm39) V210I possibly damaging Het
Chd1l A G 3: 97,488,415 (GRCm39) S534P probably benign Het
Cyb5rl T C 4: 106,928,182 (GRCm39) L106P probably damaging Het
Cyp21a1 A G 17: 35,023,162 (GRCm39) probably benign Het
Dnah12 T C 14: 26,495,679 (GRCm39) C1436R probably damaging Het
Flg2 T A 3: 93,108,361 (GRCm39) F130I probably benign Het
Fryl T A 5: 73,267,519 (GRCm39) probably benign Het
Galnt10 T C 11: 57,671,994 (GRCm39) V428A probably benign Het
Ganab A G 19: 8,888,433 (GRCm39) D496G probably null Het
Gapvd1 T C 2: 34,620,530 (GRCm39) T44A probably benign Het
Gm17093 T A 14: 44,758,185 (GRCm39) M122K unknown Het
Gm5356 A T 8: 89,914,064 (GRCm39) noncoding transcript Het
Gmppa G T 1: 75,415,664 (GRCm39) G126C probably damaging Het
Il23r T C 6: 67,467,656 (GRCm39) H37R possibly damaging Het
Itga11 A G 9: 62,651,914 (GRCm39) I349V probably benign Het
Lrrc42 A T 4: 107,100,533 (GRCm39) Y159* probably null Het
Naa16 C A 14: 79,620,806 (GRCm39) R57L probably damaging Het
Ntmt2 A T 1: 163,530,725 (GRCm39) V238E probably damaging Het
Or8g4 A G 9: 39,661,787 (GRCm39) Y35C probably damaging Het
Oxtr A T 6: 112,454,200 (GRCm39) H21Q probably damaging Het
Paqr7 A G 4: 134,234,284 (GRCm39) Y47C probably damaging Het
Paxbp1 A C 16: 90,831,000 (GRCm39) C459G probably damaging Het
Pnp2 C T 14: 51,201,293 (GRCm39) R222C possibly damaging Het
Rtl1 T C 12: 109,556,883 (GRCm39) D1652G probably damaging Het
Saxo5 T A 8: 3,526,080 (GRCm39) F78I probably damaging Het
Shoc1 A T 4: 59,049,075 (GRCm39) probably benign Het
Spata4 C A 8: 55,062,978 (GRCm39) N294K probably benign Het
Tcp11l2 T A 10: 84,449,470 (GRCm39) Y478* probably null Het
Tcte1 T A 17: 45,852,128 (GRCm39) S454T probably benign Het
Thsd4 C T 9: 60,335,598 (GRCm39) V105I probably damaging Het
Tmem117 T A 15: 94,829,765 (GRCm39) I200N probably benign Het
Tpgs1 G A 10: 79,505,289 (GRCm39) V16M probably benign Het
Ttn G T 2: 76,797,447 (GRCm39) T539K probably benign Het
Usp24 A G 4: 106,293,557 (GRCm39) S2542G probably benign Het
Vmn2r44 A T 7: 8,380,864 (GRCm39) L343H probably damaging Het
Zmat2 T A 18: 36,927,392 (GRCm39) Y21N probably damaging Het
Zyx C T 6: 42,334,327 (GRCm39) A517V probably damaging Het
Other mutations in Acsbg2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01474:Acsbg2 APN 17 57,168,621 (GRCm39) missense possibly damaging 0.90
IGL02119:Acsbg2 APN 17 57,175,459 (GRCm39) splice site probably benign
R0023:Acsbg2 UTSW 17 57,154,710 (GRCm39) missense probably damaging 0.98
R0023:Acsbg2 UTSW 17 57,154,710 (GRCm39) missense probably damaging 0.98
R0149:Acsbg2 UTSW 17 57,160,924 (GRCm39) splice site probably benign
R1542:Acsbg2 UTSW 17 57,156,791 (GRCm39) missense probably damaging 1.00
R2014:Acsbg2 UTSW 17 57,160,855 (GRCm39) missense possibly damaging 0.52
R4170:Acsbg2 UTSW 17 57,160,846 (GRCm39) missense probably benign 0.00
R4465:Acsbg2 UTSW 17 57,168,580 (GRCm39) missense probably damaging 1.00
R4867:Acsbg2 UTSW 17 57,169,914 (GRCm39) missense possibly damaging 0.93
R5169:Acsbg2 UTSW 17 57,156,913 (GRCm39) missense probably benign 0.07
R5524:Acsbg2 UTSW 17 57,157,197 (GRCm39) missense probably damaging 1.00
R6521:Acsbg2 UTSW 17 57,168,565 (GRCm39) missense probably benign 0.00
R6531:Acsbg2 UTSW 17 57,153,617 (GRCm39) missense probably damaging 1.00
R7126:Acsbg2 UTSW 17 57,153,633 (GRCm39) missense probably damaging 0.99
R7167:Acsbg2 UTSW 17 57,164,000 (GRCm39) missense probably benign 0.44
R7423:Acsbg2 UTSW 17 57,175,257 (GRCm39) missense probably benign
R7970:Acsbg2 UTSW 17 57,156,728 (GRCm39) missense probably benign 0.43
R8023:Acsbg2 UTSW 17 57,152,448 (GRCm39) missense probably damaging 1.00
R8104:Acsbg2 UTSW 17 57,152,443 (GRCm39) missense probably benign 0.27
R8887:Acsbg2 UTSW 17 57,175,285 (GRCm39) missense probably benign 0.25
Z1177:Acsbg2 UTSW 17 57,160,898 (GRCm39) missense probably benign 0.02
Posted On 2015-04-16