Incidental Mutation 'R6620:Acad9'
ID 528124
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 044743-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.930) question?
Stock # R6620 (G1)
Quality Score 163.009
Status Validated
Chromosome 3
Chromosomal Location 36120128-36147002 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 36120294 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Serine at position 13 (A13S)
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: A13S

PolyPhen 2 Score 0.219 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000011492
Gene: ENSMUSG00000027710
AA Change: A13S

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 possibly damaging
Transcript: ENSMUST00000196648
AA Change: A13S

PolyPhen 2 Score 0.925 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000142557
Gene: ENSMUSG00000027710
AA Change: A13S

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 0.1795 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.9%
  • 20x: 93.7%
Validation Efficiency 100% (35/35)
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahnak G A 19: 8,992,674 (GRCm39) E4653K possibly damaging Het
Apc2 C T 10: 80,149,401 (GRCm39) P1485L probably damaging Het
Atp9b A T 18: 80,851,902 (GRCm39) L397* probably null Het
Ces1e C A 8: 93,950,546 (GRCm39) K79N probably damaging Het
Col12a1 A C 9: 79,527,331 (GRCm39) I2666M probably damaging Het
Dock10 T A 1: 80,570,355 (GRCm39) N361I probably benign Het
Dock3 C A 9: 106,815,125 (GRCm39) M1247I probably benign Het
Evi5l C A 8: 4,256,674 (GRCm39) A720E possibly damaging Het
F5 T C 1: 164,014,375 (GRCm39) F549L probably damaging Het
Gpx2 T C 12: 76,839,674 (GRCm39) N108S possibly damaging Het
Ifnar1 T C 16: 91,293,155 (GRCm39) probably null Het
Kcnj16 T C 11: 110,915,473 (GRCm39) V45A probably damaging Het
Kng1 T C 16: 22,900,232 (GRCm39) L402P possibly damaging Het
Lct C A 1: 128,222,809 (GRCm39) probably null Het
Lmo7 G T 14: 102,112,888 (GRCm39) K106N probably benign Het
Map3k13 A T 16: 21,711,061 (GRCm39) I115F possibly damaging Het
Mapre2 T C 18: 23,991,002 (GRCm39) V123A probably benign Het
Mtfr1l A G 4: 134,256,394 (GRCm39) probably null Het
Or10g6 T A 9: 39,934,225 (GRCm39) C179S probably damaging Het
Or4c99 A G 2: 88,356,743 (GRCm39) Y272C probably damaging Het
Pbxip1 G A 3: 89,355,133 (GRCm39) V551I probably benign Het
Pcdha8 T C 18: 37,125,581 (GRCm39) I21T probably benign Het
Plekha5 G A 6: 140,518,601 (GRCm39) R296Q probably damaging Het
Psme2 A C 14: 55,825,928 (GRCm39) D126E probably damaging Het
Psmg2 T C 18: 67,774,807 (GRCm39) probably null Het
Ranbp2 A T 10: 58,291,629 (GRCm39) probably null Het
Sdr39u1 C T 14: 56,135,172 (GRCm39) R257H probably damaging Het
Sorbs2 G T 8: 46,249,213 (GRCm39) R802S probably damaging Het
Spata31 A G 13: 65,067,571 (GRCm39) N78D possibly damaging Het
Spatc1l A G 10: 76,405,756 (GRCm39) D320G probably damaging Het
Ttc8 T C 12: 98,923,579 (GRCm39) Y212H possibly damaging Het
Vmn2r112 G A 17: 22,822,082 (GRCm39) M253I probably benign Het
Zbed5 A G 5: 129,932,130 (GRCm39) E693G possibly damaging Het
Zfp808 T A 13: 62,320,638 (GRCm39) N622K probably benign 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
R4291:Acad9 UTSW 3 36,120,337 (GRCm39) missense probably benign 0.14
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
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'- GAACGACCTGTCCAATAGCC -3'
(R):5'- ACTCTGGCCAGAATGAAAGGTG -3'

Sequencing Primer
(F):5'- TGTCCAATAGCCTCGCTCAAGG -3'
(R):5'- CCAGAATGAAAGGTGGGAGC -3'
Posted On 2018-07-24