Incidental Mutation 'R6241:Acsbg1'
ID 505247
Institutional Source Beutler Lab
Gene Symbol Acsbg1
Ensembl Gene ENSMUSG00000032281
Gene Name acyl-CoA synthetase bubblegum family member 1
Synonyms E230019G03Rik, Lpd, BG1, Bgm
MMRRC Submission 044402-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.122) question?
Stock # R6241 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 54512161-54569154 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 54549946 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 86 (S86T)
Ref Sequence ENSEMBL: ENSMUSP00000121622 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034822] [ENSMUST00000128163] [ENSMUST00000128624] [ENSMUST00000138315]
AlphaFold Q99PU5
Predicted Effect possibly damaging
Transcript: ENSMUST00000034822
AA Change: S53T

PolyPhen 2 Score 0.615 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000034822
Gene: ENSMUSG00000032281
AA Change: S53T

DomainStartEndE-ValueType
Pfam:AMP-binding 106 570 7.9e-101 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000128163
AA Change: S62T

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
Predicted Effect probably damaging
Transcript: ENSMUST00000128624
AA Change: S86T

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132914
Predicted Effect unknown
Transcript: ENSMUST00000138315
AA Change: S8R
SMART Domains Protein: ENSMUSP00000118133
Gene: ENSMUSG00000032281
AA Change: S8R

DomainStartEndE-ValueType
low complexity region 8 19 N/A INTRINSIC
Meta Mutation Damage Score 0.0746 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 95.0%
Validation Efficiency 98% (51/52)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene possesses long-chain acyl-CoA synthetase activity. It is thought to play a central role in brain very long-chain fatty acids metabolism and myelinogenesis. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null mutation display abnormalities in gonadotropin induced changes in testosterone production, Leydig cell morphology and long chain and very long chain fatty acid levels. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m A G 6: 121,623,788 (GRCm39) I385V probably benign Het
Ablim2 A G 5: 36,032,241 (GRCm39) D622G probably damaging Het
Adam34l T A 8: 44,079,133 (GRCm39) I364L probably benign Het
Ank2 A C 3: 126,846,397 (GRCm39) D199E probably damaging Het
Art2a T A 7: 101,204,452 (GRCm39) M29L probably benign Het
Bbs2 C A 8: 94,824,863 (GRCm39) probably null Het
Brwd1 A T 16: 95,815,074 (GRCm39) I1402N probably damaging Het
C1qtnf9 C A 14: 61,017,069 (GRCm39) P200T possibly damaging Het
Ciita T C 16: 10,329,767 (GRCm39) Y684H probably damaging Het
Dennd1c T C 17: 57,373,272 (GRCm39) N734D probably benign Het
Depdc1b A T 13: 108,460,653 (GRCm39) I88F possibly damaging Het
Dsg2 A G 18: 20,723,274 (GRCm39) probably null Het
Foxp2 A G 6: 15,394,761 (GRCm39) T154A probably damaging Het
Gmeb1 A T 4: 131,969,688 (GRCm39) V95D possibly damaging Het
Gmeb1 A G 4: 131,973,324 (GRCm39) S62P probably benign Het
Golga5 T A 12: 102,438,732 (GRCm39) V149D probably damaging Het
H1f7 A C 15: 98,154,652 (GRCm39) S166A unknown Het
Hivep1 T C 13: 42,311,846 (GRCm39) L1362P probably benign Het
Ift81 T C 5: 122,740,414 (GRCm39) M205V probably benign Het
Iglv3 T A 16: 19,059,968 (GRCm39) Q120L possibly damaging Het
Ints9 C T 14: 65,217,659 (GRCm39) T62I possibly damaging Het
Itga1 G T 13: 115,096,673 (GRCm39) probably null Het
Katnip C T 7: 125,472,006 (GRCm39) H1532Y probably benign Het
Krt77 A C 15: 101,773,988 (GRCm39) I222S probably damaging Het
Mrps25 A G 6: 92,160,819 (GRCm39) probably null Het
Mrps27 A G 13: 99,548,754 (GRCm39) T297A probably benign Het
Mup15 A T 4: 61,357,850 (GRCm39) L7Q unknown Het
Naip1 T A 13: 100,562,169 (GRCm39) I999F probably damaging Het
Ndst1 A G 18: 60,836,901 (GRCm39) F387L probably damaging Het
Nudt9 T C 5: 104,202,151 (GRCm39) S71P probably damaging Het
Or14c41 C A 7: 86,235,245 (GRCm39) A254D probably benign Het
Or2b4 A G 17: 38,116,432 (GRCm39) Y132C probably damaging Het
Or5al1 T G 2: 85,990,380 (GRCm39) E111D probably damaging Het
Pak4 C T 7: 28,264,690 (GRCm39) V71I possibly damaging Het
Pcolce A C 5: 137,603,496 (GRCm39) S446A probably benign Het
Per2 T A 1: 91,349,251 (GRCm39) N1040I probably damaging Het
Pla2g6 A T 15: 79,188,592 (GRCm39) S422T probably benign Het
Pla2r1 G T 2: 60,332,543 (GRCm39) probably null Het
Plcb4 T C 2: 135,752,094 (GRCm39) V100A possibly damaging Het
Polr1d C T 5: 147,015,533 (GRCm39) T72M probably benign Het
Psd3 A C 8: 68,270,791 (GRCm39) probably benign Het
Radil T C 5: 142,480,697 (GRCm39) E586G probably damaging Het
Rnf150 A G 8: 83,591,093 (GRCm39) N152S possibly damaging Het
Serpina1b T A 12: 103,695,515 (GRCm39) probably null Het
Setd3 C T 12: 108,124,114 (GRCm39) E192K probably benign Het
Ssu2 G A 6: 112,351,781 (GRCm39) H315Y probably damaging Het
Taok3 T A 5: 117,410,262 (GRCm39) M818K probably benign Het
Tmem131l T C 3: 83,829,471 (GRCm39) N1062S probably benign Het
Tmx4 C T 2: 134,481,425 (GRCm39) probably benign Het
Traip G A 9: 107,845,933 (GRCm39) C342Y probably benign Het
Traj9 G T 14: 54,446,890 (GRCm39) probably benign Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Vegfc T C 8: 54,634,289 (GRCm39) S323P probably benign Het
Vinac1 T C 2: 128,879,301 (GRCm39) D875G possibly damaging Het
Other mutations in Acsbg1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00507:Acsbg1 APN 9 54,529,712 (GRCm39) splice site probably benign
IGL00757:Acsbg1 APN 9 54,530,003 (GRCm39) missense possibly damaging 0.53
IGL01665:Acsbg1 APN 9 54,530,004 (GRCm39) missense probably benign
IGL02213:Acsbg1 APN 9 54,523,254 (GRCm39) missense probably damaging 0.98
R0388:Acsbg1 UTSW 9 54,516,347 (GRCm39) missense probably damaging 1.00
R0426:Acsbg1 UTSW 9 54,530,030 (GRCm39) missense probably benign
R0445:Acsbg1 UTSW 9 54,523,179 (GRCm39) missense probably damaging 1.00
R0644:Acsbg1 UTSW 9 54,517,110 (GRCm39) missense probably damaging 1.00
R1779:Acsbg1 UTSW 9 54,523,346 (GRCm39) missense probably damaging 1.00
R1826:Acsbg1 UTSW 9 54,529,840 (GRCm39) missense possibly damaging 0.90
R4224:Acsbg1 UTSW 9 54,523,325 (GRCm39) missense possibly damaging 0.89
R5197:Acsbg1 UTSW 9 54,529,866 (GRCm39) missense possibly damaging 0.95
R5435:Acsbg1 UTSW 9 54,523,153 (GRCm39) nonsense probably null
R6260:Acsbg1 UTSW 9 54,535,751 (GRCm39) splice site probably null
R6275:Acsbg1 UTSW 9 54,517,056 (GRCm39) missense probably benign 0.00
R6940:Acsbg1 UTSW 9 54,516,381 (GRCm39) missense probably benign 0.00
R7178:Acsbg1 UTSW 9 54,535,745 (GRCm39) missense possibly damaging 0.84
R7685:Acsbg1 UTSW 9 54,535,843 (GRCm39) missense unknown
R7943:Acsbg1 UTSW 9 54,530,021 (GRCm39) missense probably damaging 0.98
R8210:Acsbg1 UTSW 9 54,517,083 (GRCm39) missense probably damaging 1.00
R8256:Acsbg1 UTSW 9 54,525,345 (GRCm39) missense probably damaging 1.00
R8322:Acsbg1 UTSW 9 54,523,268 (GRCm39) missense probably benign 0.15
R8377:Acsbg1 UTSW 9 54,529,789 (GRCm39) missense probably damaging 1.00
R8726:Acsbg1 UTSW 9 54,525,462 (GRCm39) missense probably damaging 1.00
Z1177:Acsbg1 UTSW 9 54,529,250 (GRCm39) missense possibly damaging 0.94
Z1177:Acsbg1 UTSW 9 54,522,218 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGTGGGCATAGCAAGATTTCATG -3'
(R):5'- AAGCCAGAGTCCAACCCTTTTC -3'

Sequencing Primer
(F):5'- GGGCATAGCAAGATTTCATGTACTC -3'
(R):5'- CTTGTCTGGACACTGACTCAGAG -3'
Posted On 2018-02-28