Incidental Mutation 'R6521:Acsbg2'
ID521328
Institutional Source Beutler Lab
Gene Symbol Acsbg2
Ensembl Gene ENSMUSG00000024207
Gene Nameacyl-CoA synthetase bubblegum family member 2
SynonymsBgr
MMRRC Submission
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.073) question?
Stock #R6521 (G1)
Quality Score225.009
Status Validated
Chromosome17
Chromosomal Location56843103-56874447 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 56861565 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Valine at position 185 (M185V)
Ref Sequence ENSEMBL: ENSMUSP00000042352 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043062]
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
Aars T A 8: 111,043,336 S356T probably benign Het
Adgrv1 A T 13: 81,433,652 F4758I probably damaging Het
Ank3 A G 10: 69,992,766 probably benign Het
Ankfy1 G A 11: 72,730,482 R198Q possibly damaging Het
Ano4 A G 10: 88,983,778 V537A probably damaging Het
Catsper2 A G 2: 121,406,807 L204P probably damaging Het
Cdh20 A C 1: 104,942,134 D193A probably damaging Het
Ceacam5 T C 7: 17,750,831 probably null Het
Celf4 T A 18: 25,479,474 probably null Het
Crebbp A T 16: 4,119,128 F754I probably damaging Het
Cyfip2 A T 11: 46,254,588 I635N probably damaging Het
Erbb4 T A 1: 68,042,530 D1131V probably damaging Het
Fsip2 A G 2: 82,990,086 T5388A possibly damaging Het
Hoxc8 G A 15: 102,992,703 V193M probably benign Het
Klhdc3 A G 17: 46,677,761 V124A probably benign Het
Klhl18 A G 9: 110,428,635 I509T possibly damaging Het
Maats1 A G 16: 38,306,759 V545A probably benign Het
Mdfic T A 6: 15,729,028 probably benign Het
Mkln1 T A 6: 31,490,544 D64E probably damaging Het
Mmd2 A G 5: 142,574,830 I112T probably damaging Het
Mpl C T 4: 118,455,117 probably null Het
Mtmr4 A G 11: 87,613,527 T1044A possibly damaging Het
Muc5b C A 7: 141,859,171 Y1951* probably null Het
Myo15 C T 11: 60,502,369 H2240Y probably damaging Het
Nckap5 A T 1: 126,382,172 I74K probably damaging Het
Nfxl1 A T 5: 72,540,308 probably null Het
Olfr1018 A T 2: 85,823,450 I160F probably benign Het
Olfr1205 A G 2: 88,831,356 I80V probably benign Het
Olfr736 T C 14: 50,393,548 V264A possibly damaging Het
Olfr924 C T 9: 38,848,597 T161I probably benign Het
Piezo2 T C 18: 63,021,328 Y2460C probably damaging Het
Pigx A G 16: 32,087,311 L64P probably damaging Het
Prss1 C T 6: 41,463,681 T230I probably damaging Het
Ptma A G 1: 86,527,847 probably null Het
Rab39 T C 9: 53,706,031 T29A probably benign Het
Rem2 C T 14: 54,477,687 A107V possibly damaging Het
Senp1 A G 15: 98,048,271 V531A probably damaging Het
Serhl A G 15: 83,101,642 probably null Het
Sirpa T G 2: 129,630,155 Y164D probably damaging Het
Slc12a3 T C 8: 94,343,113 I550T possibly damaging Het
Slc22a14 T C 9: 119,220,769 probably null Het
Slfn5 A G 11: 82,960,415 N513D probably damaging Het
Sptan1 T C 2: 30,020,455 S1831P possibly damaging Het
Swap70 T C 7: 110,255,820 L109P probably benign Het
Tas2r119 G A 15: 32,178,173 C295Y probably damaging Het
Tcaf3 T A 6: 42,593,238 I527L probably damaging Het
Traj31 A G 14: 54,187,930 probably benign Het
Unc5a T A 13: 55,004,935 D887E probably benign Het
Zfp407 T A 18: 84,432,411 H1600L probably damaging Het
Other mutations in Acsbg2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01474:Acsbg2 APN 17 56861621 missense possibly damaging 0.90
IGL02119:Acsbg2 APN 17 56868459 splice site probably benign
IGL02418:Acsbg2 APN 17 56849730 missense probably benign
R0023:Acsbg2 UTSW 17 56847710 missense probably damaging 0.98
R0023:Acsbg2 UTSW 17 56847710 missense probably damaging 0.98
R0149:Acsbg2 UTSW 17 56853924 splice site probably benign
R1542:Acsbg2 UTSW 17 56849791 missense probably damaging 1.00
R2014:Acsbg2 UTSW 17 56853855 missense possibly damaging 0.52
R4170:Acsbg2 UTSW 17 56853846 missense probably benign 0.00
R4465:Acsbg2 UTSW 17 56861580 missense probably damaging 1.00
R4867:Acsbg2 UTSW 17 56862914 missense possibly damaging 0.93
R5169:Acsbg2 UTSW 17 56849913 missense probably benign 0.07
R5524:Acsbg2 UTSW 17 56850197 missense probably damaging 1.00
R6531:Acsbg2 UTSW 17 56846617 missense probably damaging 1.00
R7126:Acsbg2 UTSW 17 56846633 missense probably damaging 0.99
R7167:Acsbg2 UTSW 17 56857000 missense probably benign 0.44
R7423:Acsbg2 UTSW 17 56868257 missense probably benign
R8023:Acsbg2 UTSW 17 56845448 missense probably damaging 1.00
R8104:Acsbg2 UTSW 17 56845443 missense probably benign 0.27
Z1177:Acsbg2 UTSW 17 56853898 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 On2018-06-06