Incidental Mutation 'IGL00498:Acsm5'
ID8559
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Acsm5
Ensembl Gene ENSMUSG00000030972
Gene Nameacyl-CoA synthetase medium-chain family member 5
SynonymsC730027J19Rik
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.280) question?
Stock #IGL00498
Quality Score
Status
Chromosome7
Chromosomal Location119519463-119545551 bp(+) (GRCm38)
Type of Mutationcritical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 119542438 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000146938 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066465] [ENSMUST00000207307] [ENSMUST00000207381] [ENSMUST00000207440] [ENSMUST00000207796]
Predicted Effect probably null
Transcript: ENSMUST00000066465
SMART Domains Protein: ENSMUSP00000063416
Gene: ENSMUSG00000030972

DomainStartEndE-ValueType
low complexity region 26 32 N/A INTRINSIC
Pfam:AMP-binding 65 477 2.9e-78 PFAM
Pfam:AMP-binding_C 485 565 3.3e-22 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000207307
Predicted Effect probably benign
Transcript: ENSMUST00000207381
Predicted Effect probably null
Transcript: ENSMUST00000207440
Predicted Effect probably benign
Transcript: ENSMUST00000207796
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933409G03Rik G A 2: 68,601,898 G128R unknown Het
Atad2 A C 15: 58,116,820 F423V probably damaging Het
Carmil3 T A 14: 55,501,895 probably null Het
Cdc42bpa A C 1: 180,106,121 E775A probably damaging Het
Cfdp1 T C 8: 111,840,478 E133G probably benign Het
Chst3 A G 10: 60,185,619 F469L possibly damaging Het
Dbx1 T C 7: 49,636,474 D81G probably benign Het
Dmp1 A G 5: 104,210,155 probably benign Het
Dnah8 A G 17: 30,677,176 T855A probably benign Het
Fbxw2 C T 2: 34,805,941 A250T probably damaging Het
Fcgbp T C 7: 28,091,797 C828R probably damaging Het
Gmfg G T 7: 28,446,385 R83L possibly damaging Het
Gpr37l1 A G 1: 135,161,702 probably benign Het
Hcfc1r1 G A 17: 23,674,008 R9Q probably damaging Het
Hsd17b1 A T 11: 101,080,058 H280L possibly damaging Het
Hsd17b12 A C 2: 94,083,165 probably null Het
Itga1 A G 13: 115,031,193 V99A probably benign Het
Kcnn1 A G 8: 70,852,880 S229P probably damaging Het
Klhdc8a A G 1: 132,303,018 N207S probably benign Het
Lrrtm4 T C 6: 80,022,546 W314R probably damaging Het
Malrd1 T C 2: 16,142,186 probably benign Het
Marcks T C 10: 37,138,517 K7E probably damaging Het
Mov10 A G 3: 104,800,947 probably benign Het
Pclo A T 5: 14,540,739 T1018S unknown Het
Sdk1 T C 5: 142,085,606 Y1184H probably damaging Het
Slc6a18 A T 13: 73,671,719 M244K possibly damaging Het
Snx19 C T 9: 30,428,937 T457I possibly damaging Het
Stard3 T A 11: 98,376,530 V158D possibly damaging Het
Tnks G T 8: 34,861,689 probably benign Het
Ugt2b34 A G 5: 86,901,225 S314P probably damaging Het
Usp15 G A 10: 123,113,596 S952L probably benign Het
Utp11 A G 4: 124,679,739 V214A possibly damaging Het
Other mutations in Acsm5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01662:Acsm5 APN 7 119538288 missense probably damaging 1.00
IGL02228:Acsm5 APN 7 119531866 missense probably damaging 1.00
IGL02380:Acsm5 APN 7 119537286 missense probably benign 0.05
IGL02709:Acsm5 APN 7 119534818 nonsense probably null
P4717OSA:Acsm5 UTSW 7 119531972 missense probably benign 0.12
R0506:Acsm5 UTSW 7 119538096 nonsense probably null
R0518:Acsm5 UTSW 7 119535800 missense possibly damaging 0.95
R0866:Acsm5 UTSW 7 119540900 missense probably damaging 0.99
R1171:Acsm5 UTSW 7 119540852 missense probably damaging 0.99
R2362:Acsm5 UTSW 7 119528426 start gained probably benign
R2511:Acsm5 UTSW 7 119530454 missense possibly damaging 0.80
R4670:Acsm5 UTSW 7 119531760 splice site probably null
R4908:Acsm5 UTSW 7 119538091 missense probably damaging 1.00
R4913:Acsm5 UTSW 7 119534343 missense probably damaging 0.98
R5038:Acsm5 UTSW 7 119534811 missense probably damaging 1.00
R5112:Acsm5 UTSW 7 119537279 missense possibly damaging 0.95
R6337:Acsm5 UTSW 7 119534235 missense probably benign 0.00
R6481:Acsm5 UTSW 7 119534881 missense probably benign 0.02
R7268:Acsm5 UTSW 7 119537288 missense probably benign 0.38
R7275:Acsm5 UTSW 7 119537288 missense possibly damaging 0.81
R7509:Acsm5 UTSW 7 119534388 missense probably benign
R7794:Acsm5 UTSW 7 119538129 unclassified probably benign
R8021:Acsm5 UTSW 7 119542393 missense possibly damaging 0.72
R8178:Acsm5 UTSW 7 119542395 missense probably damaging 1.00
Z1088:Acsm5 UTSW 7 119537211 missense probably damaging 0.96
Posted On2012-12-06