Incidental Mutation 'R0098:Acad9'
ID 216083
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 038384-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.930) question?
Stock # R0098 (G1)
Quality Score 42
Status Validated
Chromosome 3
Chromosomal Location 36120128-36147002 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 36127689 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 97 (I97T)
Ref Sequence ENSEMBL: ENSMUSP00000142557 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000011492] [ENSMUST00000196648] [ENSMUST00000197588]
AlphaFold Q8JZN5
Predicted Effect probably damaging
Transcript: ENSMUST00000011492
AA Change: I97T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000011492
Gene: ENSMUSG00000027710
AA Change: I97T

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 noncoding transcript
Transcript: ENSMUST00000196535
Predicted Effect probably damaging
Transcript: ENSMUST00000196648
AA Change: I97T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000142557
Gene: ENSMUSG00000027710
AA Change: I97T

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 probably benign
Transcript: ENSMUST00000197588
SMART Domains Protein: ENSMUSP00000142995
Gene: ENSMUSG00000027710

DomainStartEndE-ValueType
Pfam:Acyl-CoA_dh_1 16 155 1.9e-37 PFAM
Pfam:Acyl-CoA_dh_2 31 156 8.4e-13 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198987
Meta Mutation Damage Score 0.7315 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.8%
  • 20x: 96.2%
Validation Efficiency 100% (54/54)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acp3 C T 9: 104,197,144 (GRCm39) probably null Het
Adam32 T A 8: 25,404,405 (GRCm39) Y200F possibly damaging Het
Alpk2 A G 18: 65,482,982 (GRCm39) L342S probably damaging Het
Arfgef3 A G 10: 18,465,390 (GRCm39) V2151A probably damaging Het
Atm T C 9: 53,429,869 (GRCm39) D389G probably benign Het
Atp10b A T 11: 43,080,431 (GRCm39) S236C probably benign Het
B3gat1 C T 9: 26,668,237 (GRCm39) R276C probably damaging Het
Cndp1 T A 18: 84,646,949 (GRCm39) E246D probably damaging Het
Crebbp A G 16: 3,909,792 (GRCm39) L1078P probably damaging Het
Cyp20a1 G T 1: 60,426,413 (GRCm39) E452* probably null Het
Emb T C 13: 117,404,034 (GRCm39) V262A probably damaging Het
Ephb1 C T 9: 101,918,339 (GRCm39) R390H probably damaging Het
Faf1 T C 4: 109,792,696 (GRCm39) L556S probably damaging Het
Fam237b T A 5: 5,625,355 (GRCm39) L17Q possibly damaging Het
Fbf1 A T 11: 116,038,945 (GRCm39) probably null Het
Gid8 T A 2: 180,356,528 (GRCm39) I55N possibly damaging Het
Hexa T C 9: 59,465,383 (GRCm39) Y213H probably damaging Het
Kalrn A T 16: 33,795,989 (GRCm39) I1262K possibly damaging Het
Lrp1 C T 10: 127,388,607 (GRCm39) V3281I probably benign Het
Lrp2 T C 2: 69,305,756 (GRCm39) D2935G probably damaging Het
Lypd6 T A 2: 50,080,792 (GRCm39) V160E probably benign Het
Muc19 C T 15: 91,777,101 (GRCm39) noncoding transcript Het
Mybpc1 T C 10: 88,365,426 (GRCm39) D899G probably benign Het
Myo18a A G 11: 77,736,591 (GRCm39) E1564G probably damaging Het
Nrxn3 A G 12: 89,226,971 (GRCm39) D202G probably damaging Het
Palld C A 8: 61,978,120 (GRCm39) G890V probably damaging Het
Pcx C A 19: 4,651,775 (GRCm39) probably benign Het
Plcg1 T C 2: 160,573,920 (GRCm39) W62R probably damaging Het
Ppa2 C T 3: 133,076,234 (GRCm39) probably benign Het
Ppp1r18 A G 17: 36,178,888 (GRCm39) I254M probably benign Het
Prune2 A G 19: 17,101,267 (GRCm39) E2257G possibly damaging Het
Rd3 A G 1: 191,717,261 (GRCm39) M244V probably benign Het
Rfx5 T A 3: 94,865,679 (GRCm39) V326E probably damaging Het
Rgs3 G C 4: 62,544,143 (GRCm39) R305P probably damaging Het
Rpp40 A G 13: 36,082,970 (GRCm39) Y173H probably benign Het
Ryr3 T C 2: 112,731,376 (GRCm39) N645D probably damaging Het
Sema3e T C 5: 14,302,446 (GRCm39) V657A possibly damaging Het
Serpina3n T A 12: 104,379,777 (GRCm39) V390E probably damaging Het
Shank1 A G 7: 43,962,709 (GRCm39) Y141C unknown Het
Stat2 T A 10: 128,119,131 (GRCm39) H428Q probably damaging Het
Stat5a A T 11: 100,766,452 (GRCm39) Q378L probably damaging Het
Tfrc G T 16: 32,442,244 (GRCm39) V490F probably damaging Het
Tnnt1 T C 7: 4,512,044 (GRCm39) N155S probably damaging Het
Topaz1 T C 9: 122,619,188 (GRCm39) Y1262H possibly damaging Het
Ubxn8 T C 8: 34,125,393 (GRCm39) probably benign Het
Unk A G 11: 115,940,995 (GRCm39) Y252C probably damaging Het
Vmn2r66 A C 7: 84,654,965 (GRCm39) M448R probably damaging Het
Zfp386 T A 12: 116,022,834 (GRCm39) L184* probably null Het
Zfp985 T C 4: 147,661,566 (GRCm39) S4P probably 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
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
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'- TGCCAGGTGATCCTGACCAAACAAC -3'
(R):5'- AGTGTGGCAGGAAAATGTCCCAAAC -3'

Sequencing Primer
(F):5'- CCTGACCAAACAACTTCAGGTTTTAG -3'
(R):5'- CTGGAAGACTGCATTTAAAGACC -3'
Posted On 2014-07-21