Incidental Mutation 'IGL02806:Acsm1'
ID360416
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 #IGL02806
Quality Score
Status
Chromosome7
Chromosomal Location119607026-119662515 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 119636638 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Asparagine at position 194 (D194N)
Ref Sequence ENSEMBL: ENSMUSP00000120146 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047929] [ENSMUST00000126367] [ENSMUST00000135683]
Predicted Effect probably benign
Transcript: ENSMUST00000047929
AA Change: D194N

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000036140
Gene: ENSMUSG00000033533
AA Change: D194N

DomainStartEndE-ValueType
Pfam:AMP-binding 58 471 8.1e-70 PFAM
Pfam:AMP-binding_C 479 559 1.7e-22 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000126367
SMART Domains Protein: ENSMUSP00000114725
Gene: ENSMUSG00000033533

DomainStartEndE-ValueType
Pfam:AMP-binding 58 174 4.3e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000135683
AA Change: D194N

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000120146
Gene: ENSMUSG00000033533
AA Change: D194N

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207364
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208167
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208211
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438A13Rik A G 3: 36,946,494 D1274G possibly damaging Het
Acot4 A G 12: 84,041,963 D195G probably damaging Het
Akr1b3 T C 6: 34,304,319 Y310C probably damaging Het
Aldh6a1 T C 12: 84,439,640 D168G probably damaging Het
Ankrd29 A C 18: 12,275,738 S166A probably benign Het
Ap1m2 T G 9: 21,305,683 D119A probably damaging Het
Atp1a3 T C 7: 24,981,872 K776R probably damaging Het
Cacna2d3 A C 14: 29,351,950 probably null Het
Ccdc51 T C 9: 109,092,248 M401T probably benign Het
Cchcr1 A G 17: 35,525,256 probably benign Het
Cspg4 T C 9: 56,890,259 S1336P possibly damaging Het
Ddx60 T A 8: 61,956,122 D397E probably benign Het
Duox2 T C 2: 122,284,666 H1110R probably damaging Het
Ephb3 C A 16: 21,222,281 D696E probably benign Het
Ermap T C 4: 119,188,916 K6E possibly damaging Het
Gm3095 A G 14: 3,964,519 D79G possibly damaging Het
Hnrnpab A G 11: 51,605,478 S126P probably benign Het
Hyou1 C A 9: 44,388,883 S823* probably null Het
Klhl31 T A 9: 77,655,774 V607E probably damaging Het
Klrc3 A T 6: 129,639,102 C209S possibly damaging Het
Lhx4 G A 1: 155,702,229 P389L probably benign Het
Lmntd2 T C 7: 141,212,039 T264A probably benign Het
Mkx T C 18: 6,937,025 D302G probably damaging Het
Ms4a4d T C 19: 11,556,246 S164P possibly damaging Het
Myo1e A G 9: 70,362,270 E651G probably benign Het
Myo5b G A 18: 74,617,080 probably null Het
Ncoa3 A G 2: 166,052,432 I298V probably benign Het
Nek1 G A 8: 61,044,086 M389I probably benign Het
Nid1 T A 13: 13,468,312 D278E probably benign Het
Nkx2-9 C T 12: 56,611,920 V170M probably damaging Het
Olfr610 T A 7: 103,506,003 K314N probably benign Het
Oxsr1 T C 9: 119,241,194 D511G possibly damaging Het
Pramef17 T A 4: 143,992,931 probably null Het
Rbm44 T C 1: 91,153,077 L329S possibly damaging Het
Setd7 A T 3: 51,550,267 N46K probably damaging Het
Snx10 T A 6: 51,588,349 F149I probably damaging Het
Sult2a3 T A 7: 14,122,932 E21V probably damaging Het
Tas2r135 T C 6: 42,406,448 F307S probably benign Het
Tmem131l T C 3: 83,928,816 probably benign Het
Tnfsf18 T G 1: 161,503,779 M166R possibly damaging Het
Toe1 C T 4: 116,806,330 V88M possibly damaging Het
Ttk T A 9: 83,862,487 C577* probably null Het
Ush2a T A 1: 188,810,357 Y3373* probably null Het
Vwa8 A G 14: 79,157,088 D1543G probably benign Het
Zfhx4 A T 3: 5,390,408 H1154L probably benign Het
Other mutations in Acsm1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00775:Acsm1 APN 7 119658301 missense possibly damaging 0.46
IGL02121:Acsm1 APN 7 119658412 missense possibly damaging 0.76
IGL02480:Acsm1 APN 7 119656042 missense possibly damaging 0.94
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
Z1177:Acsm1 UTSW 7 119662278 missense probably benign 0.00
Posted On2015-12-18