Incidental Mutation 'IGL02228:Acsm5'
ID 285386
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Acsm5
Ensembl Gene ENSMUSG00000030972
Gene Name acyl-CoA synthetase medium-chain family member 5
Synonyms C730027J19Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.207) question?
Stock # IGL02228
Quality Score
Status
Chromosome 7
Chromosomal Location 119125354-119142583 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 119131089 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 169 (D169G)
Ref Sequence ENSEMBL: ENSMUSP00000147176 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066465] [ENSMUST00000207307] [ENSMUST00000207381] [ENSMUST00000207387] [ENSMUST00000207440] [ENSMUST00000207796] [ENSMUST00000207813]
AlphaFold Q8BGA8
Predicted Effect probably damaging
Transcript: ENSMUST00000066465
AA Change: D169G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000063416
Gene: ENSMUSG00000030972
AA Change: D169G

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 damaging
Transcript: ENSMUST00000207307
AA Change: D169G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably benign
Transcript: ENSMUST00000207381
Predicted Effect probably damaging
Transcript: ENSMUST00000207387
AA Change: D169G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000207440
AA Change: D169G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000207796
AA Change: D169G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000207813
AA Change: D169G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot1 T C 12: 84,063,738 (GRCm39) V282A probably benign Het
Adam8 C T 7: 139,568,719 (GRCm39) probably null Het
Agpat1 T C 17: 34,829,536 (GRCm39) F37L possibly damaging Het
Asah2 A T 19: 31,994,114 (GRCm39) D410E probably benign Het
Atg2a T A 19: 6,296,830 (GRCm39) V378D probably benign Het
Atp1a4 T C 1: 172,082,452 (GRCm39) Y130C possibly damaging Het
Bnc2 T C 4: 84,211,313 (GRCm39) H419R possibly damaging Het
Capza3 A G 6: 139,987,641 (GRCm39) D80G probably benign Het
Col6a4 C T 9: 105,945,277 (GRCm39) D946N probably benign Het
Crat T C 2: 30,303,194 (GRCm39) H31R probably damaging Het
Dsc2 A G 18: 20,176,790 (GRCm39) V419A probably damaging Het
Ebf1 T C 11: 44,863,739 (GRCm39) V363A probably damaging Het
Lcp2 T C 11: 33,997,424 (GRCm39) F24S probably damaging Het
Lgmn G A 12: 102,361,973 (GRCm39) T376I probably benign Het
Lrrc8d C T 5: 105,959,730 (GRCm39) L47F probably benign Het
Mier1 T A 4: 102,988,259 (GRCm39) M44K possibly damaging Het
Ogfod1 C A 8: 94,789,615 (GRCm39) Q439K probably benign Het
Or6aa1 A C 7: 86,044,286 (GRCm39) I140S possibly damaging Het
Pcgf6 A C 19: 47,036,421 (GRCm39) F216C probably damaging Het
Pcnt C T 10: 76,225,308 (GRCm39) R1732K probably benign Het
Pramel17 T C 4: 101,694,055 (GRCm39) Y276C probably benign Het
Pramel31 A G 4: 144,089,231 (GRCm39) K183R probably damaging Het
Rbbp4 A T 4: 129,211,543 (GRCm39) H370Q probably damaging Het
Reln A G 5: 22,109,729 (GRCm39) V3127A probably damaging Het
Rttn T A 18: 89,060,355 (GRCm39) V1019E probably damaging Het
Serpina9 C T 12: 103,974,859 (GRCm39) R98Q probably benign Het
Slc16a7 C A 10: 125,066,667 (GRCm39) G324V probably damaging Het
Slc22a3 A G 17: 12,678,697 (GRCm39) L209P probably damaging Het
Tet1 T A 10: 62,649,513 (GRCm39) T1695S probably damaging Het
Tulp3 G A 6: 128,311,448 (GRCm39) T74M probably damaging Het
Ube3a A G 7: 58,938,144 (GRCm39) probably benign Het
Ufl1 A T 4: 25,281,686 (GRCm39) S23T probably benign Het
Unc80 A G 1: 66,647,587 (GRCm39) E1509G possibly damaging Het
Wnk2 A T 13: 49,210,416 (GRCm39) I1801N probably damaging Het
Other mutations in Acsm5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00498:Acsm5 APN 7 119,141,661 (GRCm39) critical splice donor site probably null
IGL01662:Acsm5 APN 7 119,137,511 (GRCm39) missense probably damaging 1.00
IGL02380:Acsm5 APN 7 119,136,509 (GRCm39) missense probably benign 0.05
IGL02709:Acsm5 APN 7 119,134,041 (GRCm39) nonsense probably null
P4717OSA:Acsm5 UTSW 7 119,131,195 (GRCm39) missense probably benign 0.12
R0506:Acsm5 UTSW 7 119,137,319 (GRCm39) nonsense probably null
R0518:Acsm5 UTSW 7 119,135,023 (GRCm39) missense possibly damaging 0.95
R0866:Acsm5 UTSW 7 119,140,123 (GRCm39) missense probably damaging 0.99
R1171:Acsm5 UTSW 7 119,140,075 (GRCm39) missense probably damaging 0.99
R2362:Acsm5 UTSW 7 119,127,649 (GRCm39) start gained probably benign
R2511:Acsm5 UTSW 7 119,129,677 (GRCm39) missense possibly damaging 0.80
R4670:Acsm5 UTSW 7 119,130,983 (GRCm39) splice site probably null
R4908:Acsm5 UTSW 7 119,137,314 (GRCm39) missense probably damaging 1.00
R4913:Acsm5 UTSW 7 119,133,566 (GRCm39) missense probably damaging 0.98
R5038:Acsm5 UTSW 7 119,134,034 (GRCm39) missense probably damaging 1.00
R5112:Acsm5 UTSW 7 119,136,502 (GRCm39) missense possibly damaging 0.95
R6337:Acsm5 UTSW 7 119,133,458 (GRCm39) missense probably benign 0.00
R6481:Acsm5 UTSW 7 119,134,104 (GRCm39) missense probably benign 0.02
R7268:Acsm5 UTSW 7 119,136,511 (GRCm39) missense probably benign 0.38
R7275:Acsm5 UTSW 7 119,136,511 (GRCm39) missense possibly damaging 0.81
R7509:Acsm5 UTSW 7 119,133,611 (GRCm39) missense probably benign
R7794:Acsm5 UTSW 7 119,137,352 (GRCm39) unclassified probably benign
R8021:Acsm5 UTSW 7 119,141,616 (GRCm39) missense possibly damaging 0.72
R8178:Acsm5 UTSW 7 119,141,618 (GRCm39) missense probably damaging 1.00
R8797:Acsm5 UTSW 7 119,137,374 (GRCm39) missense probably damaging 1.00
Z1088:Acsm5 UTSW 7 119,136,434 (GRCm39) missense probably damaging 0.96
Posted On 2015-04-16