Incidental Mutation 'IGL00930:Acsm2'
ID27826
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? Probably non essential (E-score: 0.081) question?
Stock #IGL00930
Quality Score
Status
Chromosome7
Chromosomal Location119554340-119600690 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 119592310 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 534 (S534P)
Ref Sequence ENSEMBL: ENSMUSP00000126670 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084647] [ENSMUST00000098084] [ENSMUST00000123638] [ENSMUST00000167935] [ENSMUST00000208019]
Predicted Effect possibly damaging
Transcript: ENSMUST00000084647
AA Change: S539P

PolyPhen 2 Score 0.813 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000081697
Gene: ENSMUSG00000030945
AA Change: S539P

DomainStartEndE-ValueType
Pfam:AMP-binding 57 470 8.9e-79 PFAM
Pfam:AMP-binding_C 478 558 3.2e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000098084
AA Change: S559P

PolyPhen 2 Score 0.399 (Sensitivity: 0.89; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000095690
Gene: ENSMUSG00000030945
AA Change: S559P

DomainStartEndE-ValueType
Pfam:AMP-binding 82 495 9.7e-71 PFAM
Pfam:AMP-binding_C 503 583 5.8e-22 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000123638
AA Change: S130P

PolyPhen 2 Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000118276
Gene: ENSMUSG00000030945
AA Change: S130P

DomainStartEndE-ValueType
Pfam:AMP-binding 1 66 6.6e-13 PFAM
Pfam:AMP-binding_C 74 150 1.1e-16 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129658
Predicted Effect unknown
Transcript: ENSMUST00000129766
AA Change: S174P
SMART Domains Protein: ENSMUSP00000118174
Gene: ENSMUSG00000030945
AA Change: S174P

DomainStartEndE-ValueType
Pfam:AMP-binding 1 144 5.1e-33 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000167935
AA Change: S534P

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000126670
Gene: ENSMUSG00000030945
AA Change: S534P

DomainStartEndE-ValueType
Pfam:AMP-binding 57 470 9.1e-79 PFAM
Pfam:AMP-binding_C 483 563 3.2e-20 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000207977
AA Change: S44P
Predicted Effect probably benign
Transcript: ENSMUST00000208019
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts15 G A 9: 30,902,053 P939S probably damaging Het
Alms1 T C 6: 85,601,310 S207P probably damaging Het
Chd7 A G 4: 8,805,181 K747E probably damaging Het
Dock5 G T 14: 67,771,077 N1457K probably damaging Het
Donson T C 16: 91,682,591 E323G possibly damaging Het
Epc1 T A 18: 6,449,196 M434L probably benign Het
Fcer1a A G 1: 173,222,533 probably benign Het
Hemgn A T 4: 46,396,383 C284* probably null Het
Hnrnpm C A 17: 33,649,902 R517L probably damaging Het
Olfr854 A G 9: 19,567,175 S67P probably damaging Het
Pcdh15 G A 10: 74,630,698 E1450K probably benign Het
Pfpl A T 19: 12,429,645 H420L probably benign Het
Pitpnm2 A G 5: 124,121,663 probably benign Het
Pole2 A G 12: 69,226,445 probably benign Het
Prmt3 T A 7: 49,792,009 Y245N probably damaging Het
Rpl10a T C 17: 28,329,007 Y41H probably damaging Het
Tpst1 A T 5: 130,102,134 K148N probably benign Het
Vmn1r199 A G 13: 22,382,859 T108A possibly damaging Het
Wdr7 T A 18: 63,740,244 C525* probably null Het
Zfp646 A G 7: 127,879,130 T160A possibly damaging Het
Other mutations in Acsm2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00782:Acsm2 APN 7 119573168 missense probably damaging 1.00
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 intron 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 unclassified 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
Posted On2013-04-17