Incidental Mutation 'R6521:Acsbg2'
ID 521328
Institutional Source Beutler Lab
Gene Symbol Acsbg2
Ensembl Gene ENSMUSG00000024207
Gene Name acyl-CoA synthetase bubblegum family member 2
Synonyms Bgr
MMRRC Submission 044647-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.063) question?
Stock # R6521 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 57150103-57181447 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 57168565 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 185 (M185V)
Ref Sequence ENSEMBL: ENSMUSP00000042352 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043062]
AlphaFold Q2XU92
Predicted Effect probably benign
Transcript: ENSMUST00000043062
AA Change: M185V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000042352
Gene: ENSMUSG00000024207
AA Change: M185V

DomainStartEndE-ValueType
Pfam:AMP-binding 53 519 7e-93 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.5%
  • 20x: 92.0%
Validation Efficiency 100% (48/48)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars1 T A 8: 111,769,968 (GRCm39) S356T probably benign Het
Adgrv1 A T 13: 81,581,771 (GRCm39) F4758I probably damaging Het
Ank3 A G 10: 69,828,596 (GRCm39) probably benign Het
Ankfy1 G A 11: 72,621,308 (GRCm39) R198Q possibly damaging Het
Ano4 A G 10: 88,819,640 (GRCm39) V537A probably damaging Het
Catsper2 A G 2: 121,237,288 (GRCm39) L204P probably damaging Het
Cdh20 A C 1: 104,869,859 (GRCm39) D193A probably damaging Het
Ceacam5 T C 7: 17,484,756 (GRCm39) probably null Het
Celf4 T A 18: 25,612,531 (GRCm39) probably null Het
Cfap91 A G 16: 38,127,121 (GRCm39) V545A probably benign Het
Crebbp A T 16: 3,936,992 (GRCm39) F754I probably damaging Het
Cyfip2 A T 11: 46,145,415 (GRCm39) I635N probably damaging Het
Erbb4 T A 1: 68,081,689 (GRCm39) D1131V probably damaging Het
Fsip2 A G 2: 82,820,430 (GRCm39) T5388A possibly damaging Het
Hoxc8 G A 15: 102,901,135 (GRCm39) V193M probably benign Het
Klhdc3 A G 17: 46,988,687 (GRCm39) V124A probably benign Het
Klhl18 A G 9: 110,257,703 (GRCm39) I509T possibly damaging Het
Mdfic T A 6: 15,729,027 (GRCm39) probably benign Het
Mkln1 T A 6: 31,467,479 (GRCm39) D64E probably damaging Het
Mmd2 A G 5: 142,560,585 (GRCm39) I112T probably damaging Het
Mpl C T 4: 118,312,314 (GRCm39) probably null Het
Mtmr4 A G 11: 87,504,353 (GRCm39) T1044A possibly damaging Het
Muc5b C A 7: 141,412,908 (GRCm39) Y1951* probably null Het
Myo15a C T 11: 60,393,195 (GRCm39) H2240Y probably damaging Het
Nckap5 A T 1: 126,309,909 (GRCm39) I74K probably damaging Het
Nfxl1 A T 5: 72,697,651 (GRCm39) probably null Het
Or11j4 T C 14: 50,631,005 (GRCm39) V264A possibly damaging Het
Or2ah1 A T 2: 85,653,794 (GRCm39) I160F probably benign Het
Or4c11c A G 2: 88,661,700 (GRCm39) I80V probably benign Het
Or8d2 C T 9: 38,759,893 (GRCm39) T161I probably benign Het
Piezo2 T C 18: 63,154,399 (GRCm39) Y2460C probably damaging Het
Pigx A G 16: 31,906,129 (GRCm39) L64P probably damaging Het
Prss1 C T 6: 41,440,615 (GRCm39) T230I probably damaging Het
Ptma A G 1: 86,455,569 (GRCm39) probably null Het
Rab39 T C 9: 53,617,331 (GRCm39) T29A probably benign Het
Rem2 C T 14: 54,715,144 (GRCm39) A107V possibly damaging Het
Senp1 A G 15: 97,946,152 (GRCm39) V531A probably damaging Het
Serhl A G 15: 82,985,843 (GRCm39) probably null Het
Sirpa T G 2: 129,472,075 (GRCm39) Y164D probably damaging Het
Slc12a3 T C 8: 95,069,741 (GRCm39) I550T possibly damaging Het
Slc22a14 T C 9: 119,049,835 (GRCm39) probably null Het
Slfn5 A G 11: 82,851,241 (GRCm39) N513D probably damaging Het
Sptan1 T C 2: 29,910,467 (GRCm39) S1831P possibly damaging Het
Swap70 T C 7: 109,855,027 (GRCm39) L109P probably benign Het
Tas2r119 G A 15: 32,178,319 (GRCm39) C295Y probably damaging Het
Tcaf3 T A 6: 42,570,172 (GRCm39) I527L probably damaging Het
Traj31 A G 14: 54,425,387 (GRCm39) probably benign Het
Unc5a T A 13: 55,152,748 (GRCm39) D887E probably benign Het
Zfp407 T A 18: 84,450,536 (GRCm39) H1600L 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
IGL02418:Acsbg2 APN 17 57,156,730 (GRCm39) missense 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
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
Predicted Primers PCR Primer
(F):5'- CTGCAGACCCTACCTACATG -3'
(R):5'- TTGACTCGAGGTTGCCAAC -3'

Sequencing Primer
(F):5'- TACCTACATGCCCTGGCG -3'
(R):5'- ACTGAGTCAGACTTGCAGGC -3'
Posted On 2018-06-06