Incidental Mutation 'IGL00782:Acsm2'
ID8558
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Acsm2
Ensembl Gene ENSMUSG00000030945
Gene Nameacyl-CoA synthetase medium-chain family member 2
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00782
Quality Score
Status
Chromosome7
Chromosomal Location119554340-119600690 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 119573168 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Valine at position 78 (E78V)
Ref Sequence ENSEMBL: ENSMUSP00000115048 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084647] [ENSMUST00000098084] [ENSMUST00000130583] [ENSMUST00000167935]
Predicted Effect probably damaging
Transcript: ENSMUST00000084647
AA Change: E78V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000081697
Gene: ENSMUSG00000030945
AA Change: E78V

DomainStartEndE-ValueType
Pfam:AMP-binding 57 470 8.9e-79 PFAM
Pfam:AMP-binding_C 478 558 3.2e-20 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000098084
AA Change: E103V

PolyPhen 2 Score 0.912 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000095690
Gene: ENSMUSG00000030945
AA Change: E103V

DomainStartEndE-ValueType
Pfam:AMP-binding 82 495 9.7e-71 PFAM
Pfam:AMP-binding_C 503 583 5.8e-22 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000130583
AA Change: E78V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000115048
Gene: ENSMUSG00000030945
AA Change: E78V

DomainStartEndE-ValueType
Pfam:AMP-binding 57 145 6.7e-16 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000167935
AA Change: E78V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000126670
Gene: ENSMUSG00000030945
AA Change: E78V

DomainStartEndE-ValueType
Pfam:AMP-binding 57 470 9.1e-79 PFAM
Pfam:AMP-binding_C 483 563 3.2e-20 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209069
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 17 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atxn7 A G 14: 14,096,218 I508V possibly damaging Het
Cecr2 A G 6: 120,761,621 N1075S probably benign Het
Clcn3 A G 8: 60,922,792 I689T probably damaging Het
Cntnap3 T C 13: 64,745,805 probably benign Het
Defb11 T C 8: 21,905,494 I56V probably benign Het
Ercc5 A G 1: 44,163,935 N244S probably damaging Het
Gabrg3 A G 7: 57,381,667 S42P probably damaging Het
Hcrtr2 A T 9: 76,230,497 probably benign Het
Jcad T C 18: 4,675,073 L945S probably benign Het
Lrp2 T C 2: 69,501,645 M1589V probably benign Het
Prkg1 C T 19: 30,578,753 probably benign Het
Samd1 T C 8: 83,999,617 F464S probably damaging Het
Slc35b3 A G 13: 38,943,140 S213P possibly damaging Het
Taar1 A G 10: 23,920,446 N14S probably benign Het
Tinf2 A G 14: 55,680,464 probably null Het
Utrn T C 10: 12,652,811 N2140S probably benign Het
Zfp780b T C 7: 27,964,761 D123G probably benign Het
Other mutations in Acsm2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00930:Acsm2 APN 7 119592310 missense possibly damaging 0.91
IGL01472:Acsm2 APN 7 119554536 critical splice donor site probably null
IGL01927:Acsm2 APN 7 119578212 missense possibly damaging 0.75
IGL02550:Acsm2 APN 7 119573284 missense probably damaging 1.00
IGL02551:Acsm2 APN 7 119573284 missense probably damaging 1.00
IGL02818:Acsm2 APN 7 119573581 splice site probably null
IGL03064:Acsm2 APN 7 119575641 missense probably damaging 0.98
PIT4469001:Acsm2 UTSW 7 119578185 missense possibly damaging 0.51
R0395:Acsm2 UTSW 7 119575746 missense probably damaging 1.00
R0416:Acsm2 UTSW 7 119563556 missense probably benign 0.00
R0783:Acsm2 UTSW 7 119573117 missense probably damaging 1.00
R1252:Acsm2 UTSW 7 119573245 missense probably benign 0.15
R1432:Acsm2 UTSW 7 119573575 missense possibly damaging 0.83
R1494:Acsm2 UTSW 7 119575632 missense probably damaging 1.00
R1495:Acsm2 UTSW 7 119578126 missense probably damaging 1.00
R1642:Acsm2 UTSW 7 119563637 missense probably damaging 1.00
R1702:Acsm2 UTSW 7 119573564 missense possibly damaging 0.88
R2082:Acsm2 UTSW 7 119580634 missense probably benign 0.00
R2420:Acsm2 UTSW 7 119563634 missense probably damaging 1.00
R3612:Acsm2 UTSW 7 119591330 missense probably damaging 0.97
R4396:Acsm2 UTSW 7 119595920 missense probably damaging 1.00
R4433:Acsm2 UTSW 7 119554509 missense unknown
R4568:Acsm2 UTSW 7 119563517 missense probably benign 0.00
R4718:Acsm2 UTSW 7 119573603 missense probably damaging 0.96
R5025:Acsm2 UTSW 7 119554496 missense unknown
R5497:Acsm2 UTSW 7 119573320 missense possibly damaging 0.69
R5509:Acsm2 UTSW 7 119573617 missense probably damaging 1.00
R5682:Acsm2 UTSW 7 119563551 missense probably benign 0.12
R5941:Acsm2 UTSW 7 119591098 missense probably damaging 1.00
R5956:Acsm2 UTSW 7 119554481 missense unknown
R6129:Acsm2 UTSW 7 119591247 splice site probably null
R6212:Acsm2 UTSW 7 119573282 missense probably damaging 1.00
R7026:Acsm2 UTSW 7 119592227 missense probably damaging 1.00
R7227:Acsm2 UTSW 7 119591333 missense probably benign
R7903:Acsm2 UTSW 7 119595992 missense probably benign 0.22
R7954:Acsm2 UTSW 7 119580729 missense probably damaging 1.00
R8002:Acsm2 UTSW 7 119573257 missense possibly damaging 0.81
R8066:Acsm2 UTSW 7 119591325 missense probably damaging 0.99
Z1177:Acsm2 UTSW 7 119578093 missense probably damaging 1.00
Posted On2012-12-06