Incidental Mutation 'R1366:Acsm1'
ID 156040
Institutional Source Beutler Lab
Gene Symbol Acsm1
Ensembl Gene ENSMUSG00000033533
Gene Name acyl-CoA synthetase medium-chain family member 1
Synonyms Macs, Bucs1
MMRRC Submission 039431-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1366 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 119216980-119261738 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 119257511 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000120146 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047929] [ENSMUST00000135683]
AlphaFold Q91VA0
Predicted Effect probably benign
Transcript: ENSMUST00000047929
SMART Domains Protein: ENSMUSP00000036140
Gene: ENSMUSG00000033533

DomainStartEndE-ValueType
Pfam:AMP-binding 58 471 8.1e-70 PFAM
Pfam:AMP-binding_C 479 559 1.7e-22 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000135683
SMART Domains Protein: ENSMUSP00000120146
Gene: ENSMUSG00000033533

DomainStartEndE-ValueType
Pfam:AMP-binding 58 371 6.8e-51 PFAM
Pfam:AMP-binding 368 444 9e-15 PFAM
Pfam:AMP-binding_C 452 531 5.4e-22 PFAM
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 98.6%
  • 3x: 97.1%
  • 10x: 92.3%
  • 20x: 80.8%
Validation Efficiency 93% (43/46)
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aasdh A T 5: 77,036,651 (GRCm39) S297T probably benign Het
Ankar T A 1: 72,737,808 (GRCm39) N125Y probably damaging Het
Ccdc121 T A 5: 31,644,861 (GRCm39) C205S probably benign Het
Chd1l T C 3: 97,488,465 (GRCm39) D517G probably damaging Het
Cir1 A T 2: 73,136,757 (GRCm39) probably benign Het
Cpxm1 G A 2: 130,238,042 (GRCm39) R136W probably damaging Het
Dnah10 A T 5: 124,830,390 (GRCm39) E761D probably benign Het
Fam186a T A 15: 99,841,270 (GRCm39) E1658V possibly damaging Het
Fam98a A G 17: 75,846,381 (GRCm39) probably benign Het
Fanca G A 8: 124,031,020 (GRCm39) probably benign Het
Frmd6 T C 12: 70,934,663 (GRCm39) probably benign Het
Gmpr2 T C 14: 55,914,200 (GRCm39) probably benign Het
Hck G A 2: 152,980,215 (GRCm39) G348D probably damaging Het
Ifnab T A 4: 88,609,337 (GRCm39) Q43L possibly damaging Het
Ilkap A G 1: 91,314,937 (GRCm39) I142T possibly damaging Het
Lamc3 T C 2: 31,818,859 (GRCm39) S1206P probably damaging Het
Mfsd13a C T 19: 46,354,943 (GRCm39) T40I probably benign Het
Mid1 A C X: 168,769,090 (GRCm39) N215H probably damaging Het
Mkrn1 T C 6: 39,382,851 (GRCm39) T134A probably benign Het
Mmp9 T A 2: 164,795,262 (GRCm39) V628E probably damaging Het
Msi2 A T 11: 88,607,406 (GRCm39) V67D probably damaging Het
Ncapd3 T A 9: 26,969,236 (GRCm39) V630E probably damaging Het
Nkain1 A G 4: 130,537,316 (GRCm38) V73A probably damaging Het
Nphp4 T A 4: 152,587,383 (GRCm39) D245E probably damaging Het
Or14j3 T C 17: 37,900,655 (GRCm39) I196M probably benign Het
Or7a41 T G 10: 78,870,876 (GRCm39) M82R probably damaging Het
Or9g8 G A 2: 85,607,348 (GRCm39) C140Y probably benign Het
Pkd1l1 T C 11: 8,891,038 (GRCm39) probably benign Het
Plcxd1 A C 5: 110,250,096 (GRCm39) I184L probably damaging Het
Prl3b1 G A 13: 27,427,848 (GRCm39) A53T probably benign Het
Rasl10b G A 11: 83,308,665 (GRCm39) probably null Het
Scube2 A G 7: 109,403,821 (GRCm39) Y890H probably damaging Het
Slco6c1 T A 1: 97,055,928 (GRCm39) probably null Het
Tnfaip2 T G 12: 111,415,756 (GRCm39) F485V probably benign Het
Tpd52 T C 3: 9,028,993 (GRCm39) D17G probably damaging Het
Ube4b T C 4: 149,419,606 (GRCm39) D1034G probably damaging Het
Vmn2r118 G A 17: 55,900,237 (GRCm39) Q556* probably null Het
Zftraf1 T C 15: 76,533,169 (GRCm39) R190G probably damaging Het
Other mutations in Acsm1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00775:Acsm1 APN 7 119,257,524 (GRCm39) missense possibly damaging 0.46
IGL02121:Acsm1 APN 7 119,257,635 (GRCm39) missense possibly damaging 0.76
IGL02480:Acsm1 APN 7 119,255,265 (GRCm39) missense possibly damaging 0.94
IGL02806:Acsm1 APN 7 119,235,861 (GRCm39) missense probably benign 0.02
IGL03126:Acsm1 APN 7 119,232,403 (GRCm39) missense possibly damaging 0.74
wallball UTSW 7 119,239,917 (GRCm39) missense possibly damaging 0.83
R0025:Acsm1 UTSW 7 119,257,538 (GRCm39) missense probably damaging 1.00
R0025:Acsm1 UTSW 7 119,257,538 (GRCm39) missense probably damaging 1.00
R0090:Acsm1 UTSW 7 119,261,412 (GRCm39) splice site probably benign
R0396:Acsm1 UTSW 7 119,235,678 (GRCm39) missense probably damaging 1.00
R0491:Acsm1 UTSW 7 119,239,920 (GRCm39) missense probably damaging 1.00
R0575:Acsm1 UTSW 7 119,258,424 (GRCm39) critical splice donor site probably null
R1220:Acsm1 UTSW 7 119,257,537 (GRCm39) missense probably benign 0.00
R1624:Acsm1 UTSW 7 119,251,796 (GRCm39) missense probably damaging 1.00
R2049:Acsm1 UTSW 7 119,255,262 (GRCm39) missense probably damaging 1.00
R2937:Acsm1 UTSW 7 119,258,350 (GRCm39) missense probably damaging 1.00
R4657:Acsm1 UTSW 7 119,239,917 (GRCm39) missense possibly damaging 0.83
R4814:Acsm1 UTSW 7 119,254,687 (GRCm39) missense probably benign
R5153:Acsm1 UTSW 7 119,239,950 (GRCm39) missense possibly damaging 0.72
R5329:Acsm1 UTSW 7 119,255,274 (GRCm39) missense probably benign 0.03
R5471:Acsm1 UTSW 7 119,259,829 (GRCm39) missense probably damaging 1.00
R5645:Acsm1 UTSW 7 119,239,920 (GRCm39) missense probably damaging 1.00
R6153:Acsm1 UTSW 7 119,232,289 (GRCm39) missense probably damaging 1.00
R6406:Acsm1 UTSW 7 119,261,484 (GRCm39) missense probably benign 0.01
R7068:Acsm1 UTSW 7 119,221,803 (GRCm39) missense probably benign
R7311:Acsm1 UTSW 7 119,237,305 (GRCm39) missense probably damaging 1.00
R8293:Acsm1 UTSW 7 119,237,319 (GRCm39) missense possibly damaging 0.83
R8486:Acsm1 UTSW 7 119,259,880 (GRCm39) missense probably damaging 0.98
R8785:Acsm1 UTSW 7 119,261,453 (GRCm39) missense probably benign 0.00
R8938:Acsm1 UTSW 7 119,258,385 (GRCm39) missense probably damaging 1.00
R8939:Acsm1 UTSW 7 119,239,868 (GRCm39) missense probably benign 0.00
R9008:Acsm1 UTSW 7 119,258,325 (GRCm39) missense probably benign 0.34
Z1177:Acsm1 UTSW 7 119,261,501 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- GGCAAAGGGAATTCACTACTGCTGC -3'
(R):5'- TAGGCTCTCACACATGGATGGCAC -3'

Sequencing Primer
(F):5'- CACTGAACATATCGCTAAGAATGG -3'
(R):5'- ccttgaaatcactctgttgcc -3'
Posted On 2014-02-11