Incidental Mutation 'R6357:Acsbg3'
ID 512406
Institutional Source Beutler Lab
Gene Symbol Acsbg3
Ensembl Gene ENSMUSG00000024209
Gene Name acyl-CoA synthetase bubblegum family member 3
Synonyms 1700061G19Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.087) question?
Stock # R6357 (G1)
Quality Score 170.009
Status Not validated
Chromosome 17
Chromosomal Location 57182477-57195904 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 57184591 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000025048 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025048] [ENSMUST00000043062]
AlphaFold Q08EE8
Predicted Effect probably null
Transcript: ENSMUST00000025048
SMART Domains Protein: ENSMUSP00000025048
Gene: ENSMUSG00000024209

DomainStartEndE-ValueType
low complexity region 16 27 N/A INTRINSIC
Pfam:AMP-binding 80 554 6.5e-68 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000043062
SMART Domains Protein: ENSMUSP00000042352
Gene: ENSMUSG00000024207

DomainStartEndE-ValueType
Pfam:AMP-binding 53 519 7e-93 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125425
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.7%
  • 10x: 97.8%
  • 20x: 92.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aoc1l2 A G 6: 48,907,908 (GRCm39) M303V probably benign Het
Armh4 A T 14: 50,010,769 (GRCm39) S313T probably benign Het
Calcr T C 6: 3,714,710 (GRCm39) D140G probably benign Het
Card10 T C 15: 78,683,579 (GRCm39) E188G probably damaging Het
Cenpq T C 17: 41,235,418 (GRCm39) E193G probably damaging Het
Cep164 G A 9: 45,682,182 (GRCm39) L1874F probably damaging Het
Dennd3 T C 15: 73,428,321 (GRCm39) M889T possibly damaging Het
Dnah9 T C 11: 65,765,022 (GRCm39) K3841E probably damaging Het
Dynlt2b T G 16: 32,247,873 (GRCm39) probably null Het
Eci2 A G 13: 35,177,082 (GRCm39) V26A possibly damaging Het
Eftud2 A T 11: 102,755,606 (GRCm39) N200K probably damaging Het
Eml5 T A 12: 98,837,143 (GRCm39) H357L probably damaging Het
Esam T C 9: 37,449,076 (GRCm39) *395R probably null Het
Galt C T 4: 41,757,565 (GRCm39) P246S probably benign Het
Gjb3 A T 4: 127,220,423 (GRCm39) Y36* probably null Het
Gli2 T C 1: 118,769,689 (GRCm39) E621G probably damaging Het
Gls T C 1: 52,258,665 (GRCm39) D201G probably damaging Het
Gm10801 C CGTCA 2: 98,494,152 (GRCm39) probably null Het
Gm1110 T C 9: 26,825,424 (GRCm39) probably null Het
Gm5565 T A 5: 146,097,283 (GRCm39) H13L possibly damaging Het
Hydin A C 8: 111,268,289 (GRCm39) T2923P possibly damaging Het
Kank1 A T 19: 25,388,717 (GRCm39) I797L probably benign Het
Klhdc8a A T 1: 132,230,891 (GRCm39) Q252L probably damaging Het
Kmt5c T C 7: 4,745,204 (GRCm39) F65S possibly damaging Het
Lix1 C T 17: 17,666,255 (GRCm39) P138L probably benign Het
Lnpep T C 17: 17,773,176 (GRCm39) N664S probably benign Het
Msh6 T A 17: 88,291,888 (GRCm39) Y214* probably null Het
Nefl A G 14: 68,321,767 (GRCm39) E119G probably damaging Het
Nptxr C A 15: 79,678,516 (GRCm39) R257L possibly damaging Het
Or4k15c C A 14: 50,321,446 (GRCm39) A231S probably damaging Het
Or7e173 T A 9: 19,938,925 (GRCm39) Q103L probably damaging Het
Oxct2b A G 4: 123,010,709 (GRCm39) I210V probably benign Het
Plppr3 T A 10: 79,701,240 (GRCm39) Q534L probably benign Het
Psma1 T C 7: 113,873,602 (GRCm39) probably null Het
Rbp3 G A 14: 33,678,991 (GRCm39) A980T probably damaging Het
Ripply2 T A 9: 86,898,331 (GRCm39) S58R possibly damaging Het
Robo1 T C 16: 72,767,190 (GRCm39) V454A probably benign Het
Sacs A G 14: 61,446,273 (GRCm39) D2773G possibly damaging Het
Sirpb1b A T 3: 15,568,243 (GRCm39) V366E possibly damaging Het
Slc5a7 T C 17: 54,594,389 (GRCm39) I197M probably benign Het
Spata31f1a T A 4: 42,850,393 (GRCm39) I588F probably damaging Het
Spmap2 T C 10: 79,422,789 (GRCm39) S38G probably benign Het
Srgap2 T C 1: 131,283,280 (GRCm39) Y267C probably damaging Het
Ssc4d T C 5: 135,994,950 (GRCm39) T189A probably benign Het
Tas2r106 A G 6: 131,654,925 (GRCm39) *309Q probably null Het
Vmn2r44 T C 7: 8,373,657 (GRCm39) M511V probably benign Het
Wdfy4 G T 14: 32,823,006 (GRCm39) Y1364* probably null Het
Zbtb8a T C 4: 129,248,092 (GRCm39) H393R probably benign Het
Other mutations in Acsbg3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01287:Acsbg3 APN 17 57,189,203 (GRCm39) nonsense probably null
IGL01833:Acsbg3 APN 17 57,188,062 (GRCm39) missense probably benign 0.02
IGL02420:Acsbg3 APN 17 57,187,494 (GRCm39) missense probably damaging 1.00
IGL02969:Acsbg3 APN 17 57,190,751 (GRCm39) missense probably damaging 1.00
IGL03054:Acsbg3 UTSW 17 57,193,528 (GRCm39) missense possibly damaging 0.67
R0197:Acsbg3 UTSW 17 57,190,835 (GRCm39) missense probably benign 0.01
R0257:Acsbg3 UTSW 17 57,192,169 (GRCm39) nonsense probably null
R0279:Acsbg3 UTSW 17 57,192,169 (GRCm39) nonsense probably null
R0280:Acsbg3 UTSW 17 57,192,169 (GRCm39) nonsense probably null
R0281:Acsbg3 UTSW 17 57,192,169 (GRCm39) nonsense probably null
R0282:Acsbg3 UTSW 17 57,192,169 (GRCm39) nonsense probably null
R0329:Acsbg3 UTSW 17 57,190,631 (GRCm39) missense probably benign 0.02
R0330:Acsbg3 UTSW 17 57,190,631 (GRCm39) missense probably benign 0.02
R0349:Acsbg3 UTSW 17 57,192,169 (GRCm39) nonsense probably null
R0518:Acsbg3 UTSW 17 57,192,169 (GRCm39) nonsense probably null
R0519:Acsbg3 UTSW 17 57,192,169 (GRCm39) nonsense probably null
R0521:Acsbg3 UTSW 17 57,192,169 (GRCm39) nonsense probably null
R0604:Acsbg3 UTSW 17 57,192,169 (GRCm39) nonsense probably null
R0883:Acsbg3 UTSW 17 57,190,835 (GRCm39) missense probably benign 0.01
R1561:Acsbg3 UTSW 17 57,184,431 (GRCm39) missense probably benign
R1779:Acsbg3 UTSW 17 57,192,169 (GRCm39) nonsense probably null
R2008:Acsbg3 UTSW 17 57,193,478 (GRCm39) missense probably benign 0.04
R2102:Acsbg3 UTSW 17 57,191,949 (GRCm39) nonsense probably null
R2247:Acsbg3 UTSW 17 57,184,435 (GRCm39) missense possibly damaging 0.83
R2484:Acsbg3 UTSW 17 57,189,641 (GRCm39) missense probably benign 0.00
R2917:Acsbg3 UTSW 17 57,192,141 (GRCm39) missense probably damaging 1.00
R3149:Acsbg3 UTSW 17 57,183,348 (GRCm39) missense probably benign
R3773:Acsbg3 UTSW 17 57,183,262 (GRCm39) start codon destroyed probably null 0.00
R4829:Acsbg3 UTSW 17 57,190,500 (GRCm39) splice site probably null
R4860:Acsbg3 UTSW 17 57,195,655 (GRCm39) missense probably benign 0.09
R4860:Acsbg3 UTSW 17 57,195,655 (GRCm39) missense probably benign 0.09
R4887:Acsbg3 UTSW 17 57,183,324 (GRCm39) missense possibly damaging 0.84
R5043:Acsbg3 UTSW 17 57,192,198 (GRCm39) missense probably damaging 1.00
R5112:Acsbg3 UTSW 17 57,184,465 (GRCm39) missense probably benign 0.03
R5161:Acsbg3 UTSW 17 57,189,888 (GRCm39) missense possibly damaging 0.84
R5214:Acsbg3 UTSW 17 57,193,493 (GRCm39) missense probably benign
R5287:Acsbg3 UTSW 17 57,183,221 (GRCm39) unclassified probably benign
R5403:Acsbg3 UTSW 17 57,183,221 (GRCm39) unclassified probably benign
R5779:Acsbg3 UTSW 17 57,188,061 (GRCm39) missense probably benign 0.02
R5997:Acsbg3 UTSW 17 57,183,373 (GRCm39) missense probably benign 0.02
R6198:Acsbg3 UTSW 17 57,189,679 (GRCm39) missense probably damaging 1.00
R6259:Acsbg3 UTSW 17 57,184,513 (GRCm39) missense probably benign 0.04
R6754:Acsbg3 UTSW 17 57,190,358 (GRCm39) missense probably damaging 0.99
R6842:Acsbg3 UTSW 17 57,184,432 (GRCm39) missense probably benign 0.00
R7042:Acsbg3 UTSW 17 57,192,098 (GRCm39) missense possibly damaging 0.73
R7181:Acsbg3 UTSW 17 57,188,037 (GRCm39) missense probably benign 0.03
R7445:Acsbg3 UTSW 17 57,189,973 (GRCm39) missense possibly damaging 0.64
R7511:Acsbg3 UTSW 17 57,189,954 (GRCm39) missense probably damaging 0.98
R8122:Acsbg3 UTSW 17 57,193,670 (GRCm39) missense possibly damaging 0.50
R8553:Acsbg3 UTSW 17 57,188,021 (GRCm39) missense probably benign 0.02
R8919:Acsbg3 UTSW 17 57,189,218 (GRCm39) missense probably benign 0.00
R9460:Acsbg3 UTSW 17 57,183,316 (GRCm39) missense probably damaging 0.99
R9469:Acsbg3 UTSW 17 57,183,283 (GRCm39) missense probably benign 0.00
R9766:Acsbg3 UTSW 17 57,189,177 (GRCm39) missense probably benign 0.02
Z1177:Acsbg3 UTSW 17 57,190,463 (GRCm39) frame shift probably null
Predicted Primers PCR Primer
(F):5'- GCTACTGGACATCTAAGCGAG -3'
(R):5'- AGTGACAAACAATTCACACGTG -3'

Sequencing Primer
(F):5'- CATGGGCAAGGACCCACTAG -3'
(R):5'- TGACTAATGGTGGCATGACACTCC -3'
Posted On 2018-04-27