Incidental Mutation 'R4291:Acad9'
ID 371074
Institutional Source Beutler Lab
Gene Symbol Acad9
Ensembl Gene ENSMUSG00000027710
Gene Name acyl-Coenzyme A dehydrogenase family, member 9
Synonyms 2600017P15Rik, NPD002, C630012L17Rik
MMRRC Submission 041081-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.930) question?
Stock # R4291 (G1)
Quality Score 33.8
Status Validated
Chromosome 3
Chromosomal Location 36120128-36147002 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 36120337 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 27 (F27S)
Ref Sequence ENSEMBL: ENSMUSP00000142557 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000011492] [ENSMUST00000196648]
AlphaFold Q8JZN5
Predicted Effect probably benign
Transcript: ENSMUST00000011492
AA Change: F27S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000011492
Gene: ENSMUSG00000027710
AA Change: F27S

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: F27S

PolyPhen 2 Score 0.141 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000142557
Gene: ENSMUSG00000027710
AA Change: F27S

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: ENSMUST00000198987
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 96.0%
Validation Efficiency 100% (62/62)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AK157302 T A 13: 21,679,715 (GRCm39) D80E probably damaging Het
Amz2 T C 11: 109,324,881 (GRCm39) probably null Het
Angel1 A G 12: 86,767,057 (GRCm39) Y440H probably damaging Het
Ankrd34c T A 9: 89,611,817 (GRCm39) K175* probably null Het
Arid1b C A 17: 5,090,938 (GRCm39) S546R probably damaging Het
Atf6b T A 17: 34,871,648 (GRCm39) M428K probably benign Het
Brpf3 G A 17: 29,042,949 (GRCm39) V997M probably benign Het
Cckar A G 5: 53,863,839 (GRCm39) S41P probably benign Het
Cd96 T A 16: 45,892,112 (GRCm39) Q292L probably damaging Het
Cdh18 C A 15: 22,714,637 (GRCm39) probably benign Het
Cfb T G 17: 35,080,114 (GRCm39) D122A possibly damaging Het
Copa G T 1: 171,919,964 (GRCm39) probably benign Het
Ctnna2 T A 6: 76,859,728 (GRCm39) K854N probably damaging Het
Cwh43 G A 5: 73,569,275 (GRCm39) V106M probably benign Het
Dact2 C T 17: 14,416,833 (GRCm39) E456K probably benign Het
Dnah8 T C 17: 30,967,533 (GRCm39) S2582P probably benign Het
Eef2 A G 10: 81,015,414 (GRCm39) T312A probably benign Het
Enpep T A 3: 129,063,966 (GRCm39) R934* probably null Het
Fam240b A T 13: 64,629,627 (GRCm39) M63K possibly damaging Het
Fhdc1 C A 3: 84,352,133 (GRCm39) V1031F probably benign Het
Gm6124 A T 7: 38,872,195 (GRCm39) noncoding transcript Het
Gsn G A 2: 35,180,432 (GRCm39) V147I probably benign Het
Gucy1a1 A T 3: 82,002,066 (GRCm39) F671Y possibly damaging Het
Hectd3 A G 4: 116,852,889 (GRCm39) E97G probably damaging Het
Kcnv1 G A 15: 44,977,840 (GRCm39) T66M probably damaging Het
Krba1 C T 6: 48,392,599 (GRCm39) P802S possibly damaging Het
Lca5l C T 16: 95,979,974 (GRCm39) S52N probably damaging Het
Lmf1 T C 17: 25,873,455 (GRCm39) L320P probably damaging Het
Map3k4 G T 17: 12,474,147 (GRCm39) Q845K probably benign Het
Mapkapk3 T C 9: 107,136,131 (GRCm39) probably benign Het
Mccc1 A G 3: 36,044,217 (GRCm39) V203A probably damaging Het
Mcm9 C A 10: 53,423,668 (GRCm39) M677I probably benign Het
Mkrn2 A G 6: 115,594,395 (GRCm39) T369A possibly damaging Het
Mthfr C A 4: 148,139,949 (GRCm39) N623K probably damaging Het
Myh2 T C 11: 67,071,985 (GRCm39) V571A probably benign Het
Nom1 G A 5: 29,651,370 (GRCm39) probably null Het
Nucb1 T A 7: 45,144,704 (GRCm39) D283V probably damaging Het
Or12e8 G A 2: 87,188,419 (GRCm39) M210I probably benign Het
Or14c46 A T 7: 85,918,968 (GRCm39) F10I probably damaging Het
Or2v2 T A 11: 49,004,254 (GRCm39) I100L probably benign Het
Pcdhb1 A C 18: 37,398,470 (GRCm39) L140F probably damaging Het
Ptgs2 G A 1: 149,976,002 (GRCm39) A10T probably benign Het
Rfx3 C T 19: 27,777,632 (GRCm39) R497Q probably damaging Het
Rps6kb1 A T 11: 86,410,702 (GRCm39) probably benign Het
Slc22a21 T C 11: 53,860,329 (GRCm39) D34G probably damaging Het
Spata13 T A 14: 60,947,004 (GRCm39) M684K probably damaging Het
Tet3 T C 6: 83,350,181 (GRCm39) T961A probably damaging Het
Ttc27 T C 17: 75,163,474 (GRCm39) L694P probably damaging Het
Vmn1r238 G A 18: 3,123,214 (GRCm39) Q67* probably null Het
Vmn2r101 A T 17: 19,832,303 (GRCm39) R766S probably damaging Het
Vwf A T 6: 125,619,285 (GRCm39) Y1321F probably damaging Het
Wfdc1 C A 8: 120,406,194 (GRCm39) P103Q probably damaging Het
Zfp488 C A 14: 33,692,851 (GRCm39) C104F possibly damaging Het
Other mutations in Acad9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00329:Acad9 APN 3 36,123,911 (GRCm39) missense probably benign 0.06
IGL01161:Acad9 APN 3 36,144,274 (GRCm39) missense possibly damaging 0.93
IGL02016:Acad9 APN 3 36,142,635 (GRCm39) critical splice acceptor site probably null
IGL02100:Acad9 APN 3 36,136,029 (GRCm39) missense probably null 1.00
R0098:Acad9 UTSW 3 36,127,689 (GRCm39) missense probably damaging 1.00
R0098:Acad9 UTSW 3 36,127,689 (GRCm39) missense probably damaging 1.00
R0119:Acad9 UTSW 3 36,139,564 (GRCm39) missense probably damaging 0.99
R0499:Acad9 UTSW 3 36,139,564 (GRCm39) missense probably damaging 0.99
R1444:Acad9 UTSW 3 36,132,657 (GRCm39) missense possibly damaging 0.80
R1564:Acad9 UTSW 3 36,143,578 (GRCm39) missense possibly damaging 0.53
R2013:Acad9 UTSW 3 36,127,737 (GRCm39) missense probably damaging 0.97
R2113:Acad9 UTSW 3 36,128,525 (GRCm39) missense probably damaging 1.00
R2412:Acad9 UTSW 3 36,127,740 (GRCm39) missense probably benign 0.26
R2428:Acad9 UTSW 3 36,145,072 (GRCm39) missense probably benign
R4214:Acad9 UTSW 3 36,127,752 (GRCm39) missense probably damaging 0.99
R4562:Acad9 UTSW 3 36,120,331 (GRCm39) missense probably benign 0.31
R4679:Acad9 UTSW 3 36,142,989 (GRCm39) missense possibly damaging 0.79
R4758:Acad9 UTSW 3 36,127,754 (GRCm39) missense probably damaging 1.00
R4953:Acad9 UTSW 3 36,128,525 (GRCm39) missense probably damaging 1.00
R4970:Acad9 UTSW 3 36,139,674 (GRCm39) missense probably damaging 1.00
R5137:Acad9 UTSW 3 36,123,920 (GRCm39) missense probably benign 0.28
R5171:Acad9 UTSW 3 36,128,547 (GRCm39) missense possibly damaging 0.94
R5956:Acad9 UTSW 3 36,129,323 (GRCm39) unclassified probably benign
R6285:Acad9 UTSW 3 36,136,324 (GRCm39) missense probably benign 0.01
R6620:Acad9 UTSW 3 36,120,294 (GRCm39) missense possibly damaging 0.93
R6880:Acad9 UTSW 3 36,123,854 (GRCm39) splice site probably null
R6995:Acad9 UTSW 3 36,139,630 (GRCm39) missense probably damaging 1.00
R7286:Acad9 UTSW 3 36,130,139 (GRCm39) missense probably damaging 1.00
R7501:Acad9 UTSW 3 36,142,974 (GRCm39) missense probably benign
R7705:Acad9 UTSW 3 36,142,675 (GRCm39) missense probably benign
R8072:Acad9 UTSW 3 36,129,404 (GRCm39) missense probably benign 0.12
R8166:Acad9 UTSW 3 36,144,232 (GRCm39) missense probably benign 0.03
R8199:Acad9 UTSW 3 36,139,572 (GRCm39) missense probably damaging 1.00
R8815:Acad9 UTSW 3 36,139,590 (GRCm39) missense probably damaging 1.00
R8985:Acad9 UTSW 3 36,141,860 (GRCm39) intron probably benign
R9682:Acad9 UTSW 3 36,136,268 (GRCm39) missense possibly damaging 0.91
Predicted Primers PCR Primer
(F):5'- CAGGGTGAGACTTTGGATGC -3'
(R):5'- ACTGTGACACGACTTAAGCCAC -3'

Sequencing Primer
(F):5'- TGAGACTTTGGATGCCCGGAC -3'
(R):5'- CCAGCCTCTCGGATGTTTGG -3'
Posted On 2016-02-16