Incidental Mutation 'R6198:Acsbg3'
ID 503073
Institutional Source Beutler Lab
Gene Symbol Acsbg3
Ensembl Gene ENSMUSG00000024209
Gene Name acyl-CoA synthetase bubblegum family member 3
Synonyms 1700061G19Rik
MMRRC Submission 044338-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.087) question?
Stock # R6198 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 57182477-57195904 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 57189679 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 265 (S265G)
Ref Sequence ENSEMBL: ENSMUSP00000025048 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025048]
AlphaFold Q08EE8
Predicted Effect probably damaging
Transcript: ENSMUST00000025048
AA Change: S265G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000025048
Gene: ENSMUSG00000024209
AA Change: S265G

DomainStartEndE-ValueType
low complexity region 16 27 N/A INTRINSIC
Pfam:AMP-binding 80 554 6.5e-68 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125425
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 99% (68/69)
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700006A11Rik A T 3: 124,210,499 (GRCm39) probably null Het
2610318N02Rik A G 16: 16,936,233 (GRCm39) S164P probably damaging Het
Acyp2 C T 11: 30,456,354 (GRCm39) E98K possibly damaging Het
Adam19 A C 11: 46,012,329 (GRCm39) N275T probably damaging Het
Adgrg7 T A 16: 56,597,556 (GRCm39) T84S possibly damaging Het
Asl C T 5: 130,047,757 (GRCm39) V70I probably benign Het
Atp2c1 A G 9: 105,398,271 (GRCm39) S26P probably benign Het
Bcas3 A T 11: 85,400,261 (GRCm39) D410V probably damaging Het
Cc2d1b C T 4: 108,490,422 (GRCm39) R825W probably damaging Het
Ccdc15 A C 9: 37,225,581 (GRCm39) probably null Het
Cfh A G 1: 140,033,178 (GRCm39) S789P probably damaging Het
Cltc T C 11: 86,611,188 (GRCm39) N561S probably benign Het
Cnst A G 1: 179,420,430 (GRCm39) Q187R probably damaging Het
Csmd3 T C 15: 48,177,273 (GRCm39) T422A probably benign Het
Cyp2c55 A T 19: 38,995,565 (GRCm39) R26* probably null Het
Dgkb A T 12: 38,223,822 (GRCm39) M414L probably benign Het
Dgkd A G 1: 87,851,930 (GRCm39) D444G probably damaging Het
Dipk1b A G 2: 26,525,710 (GRCm39) K215E probably damaging Het
Dnmt3c T C 2: 153,561,929 (GRCm39) V544A noncoding transcript Het
Dus3l A T 17: 57,074,858 (GRCm39) T327S possibly damaging Het
Elf2 A T 3: 51,184,670 (GRCm39) L5Q probably damaging Het
Fxyd6 A G 9: 45,301,968 (GRCm39) Y30C probably damaging Het
Gcc2 A T 10: 58,128,412 (GRCm39) T1375S probably benign Het
Git2 A T 5: 114,883,556 (GRCm39) Y393* probably null Het
Gm14403 AAACCCTA AA 2: 177,201,448 (GRCm39) probably benign Het
Golgb1 T C 16: 36,713,757 (GRCm39) L246P probably damaging Het
Grp G T 18: 66,013,057 (GRCm39) Q74H possibly damaging Het
Ifi203 A T 1: 173,751,648 (GRCm39) M391K probably damaging Het
Itih2 A G 2: 10,103,352 (GRCm39) Y712H probably benign Het
Kdm5a T A 6: 120,415,958 (GRCm39) V1626E probably benign Het
Klhl40 A G 9: 121,607,833 (GRCm39) Y331C probably damaging Het
Kprp T A 3: 92,731,994 (GRCm39) Y352F probably damaging Het
Lama2 G T 10: 27,064,018 (GRCm39) H1286Q probably damaging Het
Lgi4 T A 7: 30,768,547 (GRCm39) probably null Het
Lrrc47 A T 4: 154,100,129 (GRCm39) N235I probably damaging Het
Lrrc74b T A 16: 17,366,650 (GRCm39) I308F probably damaging Het
Map7d1 T A 4: 126,135,636 (GRCm39) K135M probably damaging Het
Marchf5 A G 19: 37,188,140 (GRCm39) R36G probably damaging Het
Mtx3 C A 13: 92,989,359 (GRCm39) P299Q probably benign Het
Muc21 T A 17: 35,931,808 (GRCm39) probably benign Het
Ncapd2 C A 6: 125,156,286 (GRCm39) E500* probably null Het
Nckap5l T C 15: 99,323,869 (GRCm39) K878R probably damaging Het
Nphs1 T C 7: 30,167,340 (GRCm39) I756T probably damaging Het
Olfm4 T G 14: 80,237,813 (GRCm39) S17A probably benign Het
Or1j15 A G 2: 36,458,963 (GRCm39) M118V probably damaging Het
Or4b1 A T 2: 89,979,782 (GRCm39) D189E probably damaging Het
Pak1ip1 G T 13: 41,154,886 (GRCm39) Q27H probably benign Het
Piezo2 A T 18: 63,290,281 (GRCm39) C159* probably null Het
Pkn2 G T 3: 142,516,165 (GRCm39) T538K probably benign Het
Ppp3cc A T 14: 70,485,060 (GRCm39) M198K probably benign Het
Rrm1 T G 7: 102,095,936 (GRCm39) probably null Het
Setd3 T C 12: 108,131,427 (GRCm39) K7E possibly damaging Het
Shc1 A G 3: 89,329,414 (GRCm39) K86R probably benign Het
Slc16a7 T C 10: 125,064,084 (GRCm39) T418A probably benign Het
Spocd1 C T 4: 129,849,208 (GRCm39) P676S probably damaging Het
Spp1 A G 5: 104,587,374 (GRCm39) probably null Het
Syne1 A G 10: 5,252,269 (GRCm39) Y2462H probably damaging Het
Tiam2 T C 17: 3,464,396 (GRCm39) S42P probably benign Het
Tmem63b C T 17: 45,972,442 (GRCm39) V722I probably benign Het
Ubqln1 A G 13: 58,344,404 (GRCm39) S130P probably benign Het
Usp34 G T 11: 23,434,127 (GRCm39) L3215F probably damaging Het
Uvssa A G 5: 33,566,854 (GRCm39) Y517C probably damaging Het
Vps13d A T 4: 144,875,560 (GRCm39) F1649Y probably benign Het
Zfp236 A G 18: 82,675,278 (GRCm39) S405P probably damaging Het
Zfp9 T C 6: 118,454,282 (GRCm39) M1V probably null Het
Zfp946 A T 17: 22,673,896 (GRCm39) S217C probably damaging Het
Zfp970 T A 2: 177,167,253 (GRCm39) C276S probably damaging Het
Zswim5 T A 4: 116,735,204 (GRCm39) F183Y 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
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'- GGATAGCTTCTACTCTCCAGTGC -3'
(R):5'- CGTCCAAGATCTGTATTCCAGG -3'

Sequencing Primer
(F):5'- TCCAGTGCCCATTGACCAG -3'
(R):5'- TCCAAGATCTGTATTCCAGGGAAGC -3'
Posted On 2018-02-27