Incidental Mutation 'R0280:Acsbg3'
ID 37482
Institutional Source Beutler Lab
Gene Symbol Acsbg3
Ensembl Gene ENSMUSG00000024209
Gene Name acyl-CoA synthetase bubblegum family member 3
Synonyms 1700061G19Rik
MMRRC Submission 038502-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.087) question?
Stock # R0280 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 57182477-57195904 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 57192169 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 577 (Y577*)
Ref Sequence ENSEMBL: ENSMUSP00000025048 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025048]
AlphaFold Q08EE8
Predicted Effect probably null
Transcript: ENSMUST00000025048
AA Change: Y577*
SMART Domains Protein: ENSMUSP00000025048
Gene: ENSMUSG00000024209
AA Change: Y577*

DomainStartEndE-ValueType
low complexity region 16 27 N/A INTRINSIC
Pfam:AMP-binding 80 554 6.5e-68 PFAM
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 96.9%
  • 20x: 94.6%
Validation Efficiency 96% (55/57)
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam18 C T 8: 25,164,070 (GRCm39) G38R probably benign Het
Ankrd16 T G 2: 11,786,312 (GRCm39) V187G probably damaging Het
Ccdc110 A T 8: 46,396,487 (GRCm39) N793Y probably benign Het
Ccdc170 T C 10: 4,508,663 (GRCm39) I629T possibly damaging Het
Clcn6 A G 4: 148,093,172 (GRCm39) L836P probably damaging Het
Colgalt2 G T 1: 152,384,312 (GRCm39) A551S possibly damaging Het
Crocc T C 4: 140,755,737 (GRCm39) E1097G probably damaging Het
Csmd1 A T 8: 16,321,616 (GRCm39) V494E probably damaging Het
Drg1 A T 11: 3,206,537 (GRCm39) probably null Het
Dscam T C 16: 96,840,206 (GRCm39) K134E possibly damaging Het
Dyrk1b T C 7: 27,883,737 (GRCm39) Y198H probably damaging Het
Esr1 A G 10: 4,806,951 (GRCm39) D289G probably benign Het
Esr1 G T 10: 4,889,289 (GRCm39) V396F probably damaging Het
Evi5l T C 8: 4,243,133 (GRCm39) V339A probably damaging Het
Fat4 A T 3: 38,944,965 (GRCm39) Q1286L probably benign Het
Fcsk A T 8: 111,621,380 (GRCm39) V188D probably damaging Het
Frem1 T C 4: 82,887,681 (GRCm39) H1118R probably damaging Het
Fut9 C T 4: 25,619,852 (GRCm39) D321N probably benign Het
Gaa T G 11: 119,175,373 (GRCm39) V917G probably damaging Het
Gm973 GCC GC 1: 59,583,839 (GRCm39) probably null Het
Kidins220 A G 12: 25,060,140 (GRCm39) T767A probably damaging Het
Kif7 A G 7: 79,348,571 (GRCm39) S1257P probably benign Het
Ltn1 A G 16: 87,194,726 (GRCm39) L1391P probably damaging Het
Mast3 A G 8: 71,236,439 (GRCm39) Y681H probably damaging Het
Mast3 A G 8: 71,240,564 (GRCm39) V291A possibly damaging Het
Metrn C T 17: 26,014,109 (GRCm39) R239H probably benign Het
Mphosph10 C A 7: 64,026,451 (GRCm39) K666N possibly damaging Het
Mtbp C T 15: 55,449,857 (GRCm39) T433I probably benign Het
Mtmr2 A G 9: 13,710,545 (GRCm39) K365E probably damaging Het
Nanog A G 6: 122,690,357 (GRCm39) D229G probably damaging Het
Nkapd1 T C 9: 50,520,679 (GRCm39) T123A probably damaging Het
Npepps T C 11: 97,131,840 (GRCm39) N338S possibly damaging Het
Nphp4 T A 4: 152,636,393 (GRCm39) probably benign Het
Odad4 A T 11: 100,441,091 (GRCm39) K107N probably damaging Het
Or4g16 T C 2: 111,137,417 (GRCm39) F289S possibly damaging Het
Plcl2 A G 17: 50,914,062 (GRCm39) E357G probably damaging Het
Polb A T 8: 23,130,408 (GRCm39) Y173N probably damaging Het
R3hdm1 T A 1: 128,090,512 (GRCm39) S74T probably benign Het
Raet1d T A 10: 22,246,782 (GRCm39) C37S probably damaging Het
Reln G A 5: 22,432,511 (GRCm39) probably benign Het
Rps6kc1 T C 1: 190,541,197 (GRCm39) S369G probably damaging Het
Sgf29 A G 7: 126,270,743 (GRCm39) E108G probably benign Het
Sh3tc1 A G 5: 35,863,361 (GRCm39) L942P probably damaging Het
Slc22a27 A T 19: 7,874,187 (GRCm39) L188* probably null Het
Slc9a3 T A 13: 74,307,543 (GRCm39) I445N probably damaging Het
Sufu A T 19: 46,439,112 (GRCm39) probably benign Het
Tomm40 G A 7: 19,447,676 (GRCm39) T118I probably damaging Het
Ttn C T 2: 76,570,823 (GRCm39) R26690H probably damaging Het
Vmn2r16 A G 5: 109,488,005 (GRCm39) I293V possibly damaging Het
Vmn2r68 T A 7: 84,882,457 (GRCm39) probably benign Het
Vmn2r68 C G 7: 84,882,466 (GRCm39) probably null Het
Vsig8 A G 1: 172,389,105 (GRCm39) D119G 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
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
R6357:Acsbg3 UTSW 17 57,184,591 (GRCm39) critical splice donor site probably null
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'- GCTCCACTTCCTAGAGAAGGGGATG -3'
(R):5'- GCCTGCCTTTCCAAAGAGGCTTA -3'

Sequencing Primer
(F):5'- CTAGAGAAGGGGATGTTTGGG -3'
(R):5'- ctcaccagtctcctcccc -3'
Posted On 2013-05-23