Incidental Mutation 'IGL00329:Acad9'
ID332275
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Acad9
Ensembl Gene ENSMUSG00000027710
Gene Nameacyl-Coenzyme A dehydrogenase family, member 9
Synonyms2600017P15Rik, NPD002, C630012L17Rik
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.814) question?
Stock #IGL00329
Quality Score
Status
Chromosome3
Chromosomal Location36065979-36092853 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 36069762 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Serine at position 72 (N72S)
Ref Sequence ENSEMBL: ENSMUSP00000142557 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000011492] [ENSMUST00000196648]
Predicted Effect probably benign
Transcript: ENSMUST00000011492
AA Change: N72S

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000011492
Gene: ENSMUSG00000027710
AA Change: N72S

DomainStartEndE-ValueType
low complexity region 11 20 N/A INTRINSIC
Pfam:Acyl-CoA_dh_N 69 177 1.2e-25 PFAM
Pfam:Acyl-CoA_dh_M 181 282 2e-27 PFAM
Pfam:Acyl-CoA_dh_1 294 445 9.6e-42 PFAM
Pfam:Acyl-CoA_dh_2 309 434 3.6e-12 PFAM
Blast:HisKA 448 550 1e-6 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000196648
AA Change: N72S

PolyPhen 2 Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000142557
Gene: ENSMUSG00000027710
AA Change: N72S

DomainStartEndE-ValueType
low complexity region 11 20 N/A INTRINSIC
Pfam:Acyl-CoA_dh_N 69 156 9.6e-13 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197344
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198987
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the acyl-CoA dehydrogenase family. Members of this family of proteins localize to the mitochondria and catalyze the rate-limiting step in the beta-oxidation of fatty acyl-CoA. The encoded protein is specifically active toward palmitoyl-CoA and long-chain unsaturated substrates. Mutations in this gene cause acyl-CoA dehydrogenase family member type 9 deficiency. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Mar 2010]
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010111I01Rik T A 13: 63,191,163 I623N probably damaging Het
Apba3 C T 10: 81,273,067 P555S probably damaging Het
Arcn1 C A 9: 44,759,036 E98* probably null Het
Col28a1 G T 6: 8,175,425 T141K probably damaging Het
Dna2 T C 10: 62,966,443 F811S probably damaging Het
Dusp19 T A 2: 80,630,925 I186K probably damaging Het
Dync2li1 A G 17: 84,644,726 D195G possibly damaging Het
Epm2aip1 T C 9: 111,272,787 V276A possibly damaging Het
Extl3 T C 14: 65,075,621 E704G probably benign Het
Fam166b G A 4: 43,428,158 R100W possibly damaging Het
Gle1 T C 2: 29,939,289 probably benign Het
Gm2178 C A 14: 26,514,612 probably benign Het
Gm4553 T C 7: 142,165,227 S155G unknown Het
Gm7257 G A 9: 36,432,902 probably benign Het
Herc2 T A 7: 56,124,299 L1166Q probably damaging Het
Hsd11b2 A G 8: 105,523,127 E290G probably benign Het
Inpp5d T C 1: 87,668,003 V157A probably benign Het
Krt72 T A 15: 101,784,999 Q160L probably damaging Het
Lrrd1 A G 5: 3,850,081 K129E possibly damaging Het
Mapk13 A G 17: 28,776,405 Y200C probably damaging Het
Mme G A 3: 63,380,328 W750* probably null Het
Nat8l C T 5: 33,998,417 P139L probably damaging Het
Nrtn C A 17: 56,751,569 R144L probably benign Het
Olfr651 C A 7: 104,553,092 P58T probably benign Het
Pdgfa T A 5: 138,988,461 probably benign Het
Rtp3 A G 9: 110,986,598 V233A probably benign Het
Syne2 A G 12: 76,031,700 probably benign Het
Trappc10 A T 10: 78,203,877 probably benign Het
Usp24 A G 4: 106,359,091 T380A probably benign Het
Vmn1r21 A T 6: 57,844,064 S132T probably benign Het
Other mutations in Acad9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01161:Acad9 APN 3 36090125 missense possibly damaging 0.93
IGL02016:Acad9 APN 3 36088486 critical splice acceptor site probably null
IGL02100:Acad9 APN 3 36081880 missense probably null 1.00
R0098:Acad9 UTSW 3 36073540 missense probably damaging 1.00
R0098:Acad9 UTSW 3 36073540 missense probably damaging 1.00
R0119:Acad9 UTSW 3 36085415 missense probably damaging 0.99
R0499:Acad9 UTSW 3 36085415 missense probably damaging 0.99
R1444:Acad9 UTSW 3 36078508 missense possibly damaging 0.80
R1564:Acad9 UTSW 3 36089429 missense possibly damaging 0.53
R2013:Acad9 UTSW 3 36073588 missense probably damaging 0.97
R2113:Acad9 UTSW 3 36074376 missense probably damaging 1.00
R2412:Acad9 UTSW 3 36073591 missense probably benign 0.26
R2428:Acad9 UTSW 3 36090923 missense probably benign
R4214:Acad9 UTSW 3 36073603 missense probably damaging 0.99
R4291:Acad9 UTSW 3 36066188 missense probably benign 0.14
R4562:Acad9 UTSW 3 36066182 missense probably benign 0.31
R4679:Acad9 UTSW 3 36088840 missense possibly damaging 0.79
R4758:Acad9 UTSW 3 36073605 missense probably damaging 1.00
R4953:Acad9 UTSW 3 36074376 missense probably damaging 1.00
R4970:Acad9 UTSW 3 36085525 missense probably damaging 1.00
R5137:Acad9 UTSW 3 36069771 missense probably benign 0.28
R5171:Acad9 UTSW 3 36074398 missense possibly damaging 0.94
R5956:Acad9 UTSW 3 36075174 unclassified probably benign
R6285:Acad9 UTSW 3 36082175 missense probably benign 0.01
R6620:Acad9 UTSW 3 36066145 missense possibly damaging 0.93
R6880:Acad9 UTSW 3 36069705 splice site probably null
R6995:Acad9 UTSW 3 36085481 missense probably damaging 1.00
Posted On2015-08-05