Incidental Mutation 'R7268:Acsf3'
ID 565080
Institutional Source Beutler Lab
Gene Symbol Acsf3
Ensembl Gene ENSMUSG00000015016
Gene Name acyl-CoA synthetase family member 3
Synonyms
MMRRC Submission 045319-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.272) question?
Stock # R7268 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 123502225-123544619 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 123517401 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 399 (Y399C)
Ref Sequence ENSEMBL: ENSMUSP00000148725 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015160] [ENSMUST00000127664] [ENSMUST00000212781] [ENSMUST00000212790]
AlphaFold Q3URE1
Predicted Effect probably benign
Transcript: ENSMUST00000015160
AA Change: Y399C

PolyPhen 2 Score 0.155 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000015160
Gene: ENSMUSG00000015016
AA Change: Y399C

DomainStartEndE-ValueType
Pfam:AMP-binding 47 478 3.9e-86 PFAM
Pfam:AMP-binding_C 486 561 6.4e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000127664
SMART Domains Protein: ENSMUSP00000118564
Gene: ENSMUSG00000092329

DomainStartEndE-ValueType
Pfam:Glycos_transf_2 104 287 7.4e-31 PFAM
Pfam:Glyco_transf_7C 261 331 4.9e-8 PFAM
RICIN 406 531 9.28e-27 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000212781
AA Change: Y399C

PolyPhen 2 Score 0.155 (Sensitivity: 0.92; Specificity: 0.87)
Predicted Effect probably benign
Transcript: ENSMUST00000212790
AA Change: Y399C

PolyPhen 2 Score 0.155 (Sensitivity: 0.92; Specificity: 0.87)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 99% (72/73)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the acyl-CoA synthetase family of enzymes that activate fatty acids by catalyzing the formation of a thioester linkage between fatty acids and coenzyme A. The encoded protein is localized to mitochondria, has high specificity for malonate and methylmalonate and possesses malonyl-CoA synthetase activity. Mutations in this gene are a cause of combined malonic and methylmalonic aciduria. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Sep 2013]
Allele List at MGI
Other mutations in this stock
Total: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abl2 T C 1: 156,461,509 (GRCm39) probably null Het
Acsm5 A T 7: 119,136,511 (GRCm39) T361S probably benign Het
Agap1 T G 1: 89,694,070 (GRCm39) I456S probably benign Het
Ahnak2 A T 12: 112,780,802 (GRCm38) V70E Het
Alb T A 5: 90,610,575 (GRCm39) S52T probably benign Het
Ankle1 A G 8: 71,860,189 (GRCm39) T256A probably damaging Het
Armt1 G A 10: 4,400,855 (GRCm39) V201M possibly damaging Het
Atp2a2 T C 5: 122,605,792 (GRCm39) T388A probably benign Het
Atp6v0a2 T C 5: 124,796,930 (GRCm39) L770P probably damaging Het
B4galnt3 A T 6: 120,192,003 (GRCm39) W578R possibly damaging Het
Babam2 T C 5: 31,859,197 (GRCm39) S2P probably damaging Het
Baz2a A G 10: 127,960,090 (GRCm39) H1459R possibly damaging Het
Bbs7 C T 3: 36,658,575 (GRCm39) R233Q probably benign Het
Cacna2d1 G A 5: 16,575,586 (GRCm39) G1076R probably damaging Het
Camsap2 C T 1: 136,201,483 (GRCm39) probably null Het
Car10 A G 11: 93,490,077 (GRCm39) N273D probably benign Het
Ccdc66 T C 14: 27,208,880 (GRCm39) D458G probably benign Het
Ccdc7a T A 8: 129,607,633 (GRCm39) H982L possibly damaging Het
Col9a1 A G 1: 24,246,479 (GRCm39) K386E possibly damaging Het
Ctcfl A G 2: 172,949,588 (GRCm39) I415T probably benign Het
Cyp3a16 G C 5: 145,404,280 (GRCm39) Y54* probably null Het
Dact2 T C 17: 14,416,797 (GRCm39) T468A probably benign Het
Dgkb T A 12: 38,197,554 (GRCm39) L355* probably null Het
Dhx40 A T 11: 86,697,442 (GRCm39) C42S possibly damaging Het
Dnaaf9 C A 2: 130,648,708 (GRCm39) R258L unknown Het
Dop1a G T 9: 86,394,830 (GRCm39) E637* probably null Het
Dpp4 G T 2: 62,178,186 (GRCm39) P649T probably damaging Het
Eri3 T A 4: 117,506,580 (GRCm39) I303K probably benign Het
Foxi1 A T 11: 34,155,783 (GRCm39) Y282* probably null Het
Gdi2 T A 13: 3,606,363 (GRCm39) Y146* probably null Het
Gns A G 10: 121,212,557 (GRCm39) Y173C probably damaging Het
Gpc1 C A 1: 92,786,093 (GRCm39) P494Q possibly damaging Het
Habp2 G T 19: 56,302,518 (GRCm39) G274V probably damaging Het
Hcfc2 T A 10: 82,544,846 (GRCm39) Y159* probably null Het
Hmcn2 T A 2: 31,347,978 (GRCm39) S4875T possibly damaging Het
Hmgcs2 A G 3: 98,204,796 (GRCm39) N318S probably benign Het
Lnpep A T 17: 17,758,803 (GRCm39) M847K probably benign Het
Mmp16 A C 4: 18,093,366 (GRCm39) M374L probably benign Het
Mrpl38 A G 11: 116,029,396 (GRCm39) I40T possibly damaging Het
Ncstn T C 1: 171,908,830 (GRCm39) T46A possibly damaging Het
Nlrp1a C T 11: 71,015,068 (GRCm39) V61I probably benign Het
Npas2 G T 1: 39,326,658 (GRCm39) V48L probably damaging Het
Or13p5 A G 4: 118,592,605 (GRCm39) Y293C probably damaging Het
Or52ac1 G A 7: 104,246,284 (GRCm39) L35F probably benign Het
Or6c6 C T 10: 129,187,263 (GRCm39) T277I possibly damaging Het
Pcyox1 A T 6: 86,368,713 (GRCm39) N268K possibly damaging Het
Pramel14 A T 4: 143,720,090 (GRCm39) probably null Het
Prr27 T C 5: 87,991,135 (GRCm39) L249P probably damaging Het
Psat1 A T 19: 15,894,508 (GRCm39) V168D probably damaging Het
Psg17 G T 7: 18,548,586 (GRCm39) T395K possibly damaging Het
Ptgis A G 2: 167,048,676 (GRCm39) Y447H probably benign Het
Rad50 T A 11: 53,575,102 (GRCm39) N607I probably benign Het
Rps6ka2 T C 17: 7,562,662 (GRCm39) Y602H possibly damaging Het
Senp6 G A 9: 80,049,406 (GRCm39) R1010H probably damaging Het
Slc8a3 C A 12: 81,361,827 (GRCm39) D331Y probably damaging Het
Slc9c1 G A 16: 45,370,479 (GRCm39) S240N probably damaging Het
Slf1 A G 13: 77,214,826 (GRCm39) L620P probably damaging Het
Snx19 A G 9: 30,351,473 (GRCm39) E847G probably damaging Het
Spaca6 T C 17: 18,052,369 (GRCm39) V103A probably benign Het
Tbk1 A G 10: 121,388,404 (GRCm39) Y591H probably benign Het
Tchh CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC 3: 93,354,015 (GRCm39) probably benign Het
Tfap2a G A 13: 40,882,236 (GRCm39) T15I possibly damaging Het
Tgm2 G A 2: 157,962,188 (GRCm39) R544* probably null Het
Tmem116 T A 5: 121,605,918 (GRCm39) I90K Het
Tmem30c A C 16: 57,086,777 (GRCm39) L342R probably damaging Het
Trpm6 C T 19: 18,755,949 (GRCm39) T64I probably benign Het
Ttll8 A G 15: 88,819,159 (GRCm39) probably null Het
Vcpip1 A G 1: 9,816,307 (GRCm39) I692T probably damaging Het
Vmn1r169 T G 7: 23,276,853 (GRCm39) F82V probably benign Het
Vmn1r178 G A 7: 23,593,378 (GRCm39) C142Y probably benign Het
Vmn2r16 T A 5: 109,488,331 (GRCm39) Y401* probably null Het
Wdr91 A G 6: 34,869,375 (GRCm39) V383A probably benign Het
Other mutations in Acsf3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01288:Acsf3 APN 8 123,507,381 (GRCm39) splice site probably benign
IGL01930:Acsf3 APN 8 123,507,085 (GRCm39) missense probably benign 0.03
IGL02064:Acsf3 APN 8 123,506,986 (GRCm39) missense possibly damaging 0.74
IGL02321:Acsf3 APN 8 123,506,853 (GRCm39) missense possibly damaging 0.57
IGL02342:Acsf3 APN 8 123,544,237 (GRCm39) missense probably benign 0.03
R0233:Acsf3 UTSW 8 123,507,031 (GRCm39) missense probably damaging 1.00
R0233:Acsf3 UTSW 8 123,507,031 (GRCm39) missense probably damaging 1.00
R0240:Acsf3 UTSW 8 123,506,920 (GRCm39) missense probably damaging 1.00
R0240:Acsf3 UTSW 8 123,506,920 (GRCm39) missense probably damaging 1.00
R0566:Acsf3 UTSW 8 123,508,266 (GRCm39) missense possibly damaging 0.95
R1255:Acsf3 UTSW 8 123,512,705 (GRCm39) critical splice donor site probably null
R1836:Acsf3 UTSW 8 123,506,922 (GRCm39) missense probably damaging 0.99
R1886:Acsf3 UTSW 8 123,510,741 (GRCm39) missense probably damaging 1.00
R1977:Acsf3 UTSW 8 123,508,272 (GRCm39) missense probably damaging 1.00
R2204:Acsf3 UTSW 8 123,540,383 (GRCm39) missense probably damaging 0.98
R4735:Acsf3 UTSW 8 123,508,218 (GRCm39) missense probably damaging 1.00
R4795:Acsf3 UTSW 8 123,506,896 (GRCm39) missense possibly damaging 0.59
R4850:Acsf3 UTSW 8 123,544,175 (GRCm39) missense probably damaging 1.00
R5092:Acsf3 UTSW 8 123,544,131 (GRCm39) missense probably benign 0.12
R5435:Acsf3 UTSW 8 123,507,020 (GRCm39) missense probably damaging 1.00
R6115:Acsf3 UTSW 8 123,517,411 (GRCm39) missense probably damaging 1.00
R6147:Acsf3 UTSW 8 123,508,213 (GRCm39) missense probably damaging 1.00
R6283:Acsf3 UTSW 8 123,512,694 (GRCm39) missense probably damaging 1.00
R6848:Acsf3 UTSW 8 123,517,329 (GRCm39) missense probably damaging 1.00
R7291:Acsf3 UTSW 8 123,540,316 (GRCm39) missense probably benign 0.03
R7319:Acsf3 UTSW 8 123,539,770 (GRCm39) missense probably damaging 1.00
R7350:Acsf3 UTSW 8 123,512,685 (GRCm39) missense probably benign 0.00
R7402:Acsf3 UTSW 8 123,507,163 (GRCm39) missense probably damaging 1.00
R7890:Acsf3 UTSW 8 123,512,704 (GRCm39) critical splice donor site probably null
R7908:Acsf3 UTSW 8 123,512,562 (GRCm39) missense probably damaging 0.99
R8058:Acsf3 UTSW 8 123,540,373 (GRCm39) missense possibly damaging 0.88
R8345:Acsf3 UTSW 8 123,508,284 (GRCm39) missense probably benign 0.25
R9468:Acsf3 UTSW 8 123,539,769 (GRCm39) missense probably damaging 1.00
Z1177:Acsf3 UTSW 8 123,506,703 (GRCm39) start gained probably benign
Predicted Primers PCR Primer
(F):5'- GTAACAGAGCACAGTGATCTCAC -3'
(R):5'- CCCTCAAAATGTCCTCCAGG -3'

Sequencing Primer
(F):5'- GTGATCTCACAGTAACCCCATGTC -3'
(R):5'- TCCTCCAGGGACAGAGCTATG -3'
Posted On 2019-06-26