Incidental Mutation 'IGL00775:Acsm1'
ID12436
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Acsm1
Ensembl Gene ENSMUSG00000033533
Gene Nameacyl-CoA synthetase medium-chain family member 1
SynonymsBucs1, Macs
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00775
Quality Score
Status
Chromosome7
Chromosomal Location119607026-119662515 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 119658301 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Serine at position 403 (N403S)
Ref Sequence ENSEMBL: ENSMUSP00000120146 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047929] [ENSMUST00000135683]
Predicted Effect probably benign
Transcript: ENSMUST00000047929
AA Change: N430S

PolyPhen 2 Score 0.429 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000036140
Gene: ENSMUSG00000033533
AA Change: N430S

DomainStartEndE-ValueType
Pfam:AMP-binding 58 471 8.1e-70 PFAM
Pfam:AMP-binding_C 479 559 1.7e-22 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000135683
AA Change: N403S

PolyPhen 2 Score 0.456 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000120146
Gene: ENSMUSG00000033533
AA Change: N403S

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
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 13 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700007G11Rik T C 5: 98,784,510 Y190H probably benign Het
Adam32 T C 8: 24,921,354 Y92C probably damaging Het
Ankfy1 G A 11: 72,728,772 G157D probably benign Het
Champ1 T C 8: 13,879,509 S556P probably damaging Het
Dnah8 T G 17: 30,767,906 Y3176* probably null Het
Gbp8 T C 5: 105,017,845 N314S probably damaging Het
Kif1c A G 11: 70,724,134 probably null Het
Pcdhb22 T C 18: 37,519,742 V421A probably benign Het
Plag1 A G 4: 3,904,055 S379P probably damaging Het
Skint11 A T 4: 114,194,692 D79V probably damaging Het
Tdp2 A G 13: 24,840,538 T273A probably damaging Het
Utrn A G 10: 12,745,230 probably null Het
Zscan21 C A 5: 138,133,048 S99* probably null Het
Other mutations in Acsm1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02121:Acsm1 APN 7 119658412 missense possibly damaging 0.76
IGL02480:Acsm1 APN 7 119656042 missense possibly damaging 0.94
IGL02806:Acsm1 APN 7 119636638 missense probably benign 0.02
IGL03126:Acsm1 APN 7 119633180 missense possibly damaging 0.74
wallball UTSW 7 119640694 missense possibly damaging 0.83
R0025:Acsm1 UTSW 7 119658315 missense probably damaging 1.00
R0025:Acsm1 UTSW 7 119658315 missense probably damaging 1.00
R0090:Acsm1 UTSW 7 119662189 splice site probably benign
R0396:Acsm1 UTSW 7 119636455 missense probably damaging 1.00
R0491:Acsm1 UTSW 7 119640697 missense probably damaging 1.00
R0575:Acsm1 UTSW 7 119659201 critical splice donor site probably null
R1220:Acsm1 UTSW 7 119658314 missense probably benign 0.00
R1366:Acsm1 UTSW 7 119658288 splice site probably benign
R1624:Acsm1 UTSW 7 119652573 missense probably damaging 1.00
R2049:Acsm1 UTSW 7 119656039 missense probably damaging 1.00
R2937:Acsm1 UTSW 7 119659127 missense probably damaging 1.00
R4657:Acsm1 UTSW 7 119640694 missense possibly damaging 0.83
R4814:Acsm1 UTSW 7 119655464 missense probably benign
R5153:Acsm1 UTSW 7 119640727 missense possibly damaging 0.72
R5329:Acsm1 UTSW 7 119656051 missense probably benign 0.03
R5471:Acsm1 UTSW 7 119660606 missense probably damaging 1.00
R5645:Acsm1 UTSW 7 119640697 missense probably damaging 1.00
R6153:Acsm1 UTSW 7 119633066 missense probably damaging 1.00
R6406:Acsm1 UTSW 7 119662261 missense probably benign 0.01
R7068:Acsm1 UTSW 7 119622580 missense probably benign
R7311:Acsm1 UTSW 7 119638082 missense probably damaging 1.00
R8293:Acsm1 UTSW 7 119638096 missense possibly damaging 0.83
R8486:Acsm1 UTSW 7 119660657 missense probably damaging 0.98
R8785:Acsm1 UTSW 7 119662230 missense probably benign 0.00
Z1177:Acsm1 UTSW 7 119662278 missense probably benign 0.00
Posted On2012-12-06