Incidental Mutation 'R1571:Acad10'
ID 186201
Institutional Source Beutler Lab
Gene Symbol Acad10
Ensembl Gene ENSMUSG00000029456
Gene Name acyl-Coenzyme A dehydrogenase family, member 10
Synonyms 2410021P16Rik
MMRRC Submission 039610-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1571 (G1)
Quality Score 213
Status Not validated
Chromosome 5
Chromosomal Location 121759089-121798577 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 121759411 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 1024 (Y1024C)
Ref Sequence ENSEMBL: ENSMUSP00000107400 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031412] [ENSMUST00000041252] [ENSMUST00000111770] [ENSMUST00000111776] [ENSMUST00000197916]
AlphaFold Q8K370
Predicted Effect probably damaging
Transcript: ENSMUST00000031412
AA Change: Y1024C

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000031412
Gene: ENSMUSG00000029456
AA Change: Y1024C

DomainStartEndE-ValueType
Pfam:HAD_2 45 231 1.6e-14 PFAM
Pfam:Hydrolase 88 225 5e-8 PFAM
Pfam:APH 287 531 1.8e-52 PFAM
Pfam:Acyl-CoA_dh_N 660 787 1.7e-15 PFAM
Pfam:Acyl-CoA_dh_M 791 892 2.7e-20 PFAM
Pfam:Acyl-CoA_dh_1 904 1055 1.1e-35 PFAM
Pfam:Acyl-CoA_dh_2 919 1037 6.4e-13 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000041252
SMART Domains Protein: ENSMUSP00000046497
Gene: ENSMUSG00000042647

DomainStartEndE-ValueType
Pfam:Acyl-CoA_dh_N 151 278 7e-16 PFAM
Pfam:Acyl-CoA_dh_M 282 383 1.9e-18 PFAM
Pfam:Acyl-CoA_dh_1 395 536 1.5e-27 PFAM
Pfam:Acyl-CoA_dh_2 411 526 1.7e-13 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000111770
AA Change: Y1024C

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000107400
Gene: ENSMUSG00000029456
AA Change: Y1024C

DomainStartEndE-ValueType
Pfam:HAD_2 45 231 2.3e-14 PFAM
Pfam:APH 287 523 3.2e-50 PFAM
Pfam:EcKinase 390 504 5.2e-8 PFAM
Pfam:Acyl-CoA_dh_N 660 787 3.4e-14 PFAM
Pfam:Acyl-CoA_dh_M 791 845 2.7e-13 PFAM
Pfam:Acyl-CoA_dh_1 904 1055 9.4e-36 PFAM
Pfam:Acyl-CoA_dh_2 919 1037 1.6e-14 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000111776
SMART Domains Protein: ENSMUSP00000107406
Gene: ENSMUSG00000042647

DomainStartEndE-ValueType
Pfam:Acyl-CoA_dh_N 151 278 1.9e-15 PFAM
Pfam:Acyl-CoA_dh_M 282 336 1e-11 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133775
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137789
Predicted Effect probably benign
Transcript: ENSMUST00000197916
SMART Domains Protein: ENSMUSP00000142370
Gene: ENSMUSG00000042647

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
SCOP:d1j97a_ 40 67 1e-2 SMART
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.4%
  • 20x: 92.8%
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 of enzymes (ACADs), which participate in the beta-oxidation of fatty acids in mitochondria. The encoded enzyme contains a hydrolase domain at the N-terminal portion, a serine/threonine protein kinase catlytic domain in the central region, and a conserved ACAD domain at the C-terminus. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Nov 2008]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610524H06Rik A G 5: 114,961,372 (GRCm39) probably null Het
Abcd3 T C 3: 121,586,491 (GRCm39) I70V possibly damaging Het
Atp2b3 T G X: 72,588,712 (GRCm39) V701G probably damaging Het
Cbfa2t2 T A 2: 154,342,347 (GRCm39) M21K probably damaging Het
Cdc25a C T 9: 109,710,614 (GRCm39) T106I possibly damaging Het
Cdhr5 T C 7: 140,852,083 (GRCm39) T190A probably damaging Het
Chl1 A G 6: 103,685,445 (GRCm39) T829A probably benign Het
Clcn6 T C 4: 148,097,226 (GRCm39) T614A possibly damaging Het
Cntln A T 4: 84,865,823 (GRCm39) R160* probably null Het
Dclk2 C T 3: 86,712,946 (GRCm39) R503Q possibly damaging Het
Dock3 C A 9: 106,815,158 (GRCm39) M1236I possibly damaging Het
Eif4g3 T A 4: 137,847,719 (GRCm39) H213Q probably damaging Het
Eya1 T A 1: 14,279,141 (GRCm39) H372L probably damaging Het
Fam13b A G 18: 34,630,485 (GRCm39) V91A possibly damaging Het
Hat1 T A 2: 71,264,519 (GRCm39) I319K probably benign Het
Kcnf1 T C 12: 17,225,853 (GRCm39) N123D probably benign Het
Kcns3 C A 12: 11,141,551 (GRCm39) G383W probably damaging Het
Kprp A T 3: 92,732,689 (GRCm39) C120* probably null Het
Lama3 T A 18: 12,672,774 (GRCm39) C2456S probably damaging Het
Lrp1b A T 2: 41,366,658 (GRCm39) D539E probably damaging Het
Matn3 T C 12: 9,005,466 (GRCm39) L292S probably damaging Het
Mbd3l1 T A 9: 18,395,947 (GRCm39) I24N probably damaging Het
Med10 T C 13: 69,958,159 (GRCm39) L37P probably damaging Het
Mrc1 A T 2: 14,313,544 (GRCm39) H925L probably damaging Het
Myo15a T A 11: 60,409,290 (GRCm39) I3219N probably damaging Het
Nom1 C T 5: 29,647,633 (GRCm39) Q623* probably null Het
Nrm T A 17: 36,175,079 (GRCm39) W136R probably damaging Het
Or8h8 A C 2: 86,753,789 (GRCm39) V29G probably benign Het
Pde7b T C 10: 20,288,836 (GRCm39) N298S probably benign Het
Piezo2 C T 18: 63,277,990 (GRCm39) A305T possibly damaging Het
Pimreg T C 11: 71,936,042 (GRCm39) L175P possibly damaging Het
Pkhd1l1 A G 15: 44,390,237 (GRCm39) D1451G probably benign Het
Ptpro A G 6: 137,355,128 (GRCm39) S212G probably benign Het
Rhpn1 C T 15: 75,585,967 (GRCm39) R627C possibly damaging Het
Rif1 GCCACCA GCCA 2: 52,000,336 (GRCm39) probably benign Het
Rnase4 T G 14: 51,342,497 (GRCm39) F74V probably damaging Het
Sbno2 A G 10: 79,896,226 (GRCm39) probably null Het
Selp T C 1: 163,954,176 (GRCm39) Y159H probably damaging Het
Senp6 A G 9: 80,000,853 (GRCm39) T21A probably damaging Het
Slco1a7 A T 6: 141,700,135 (GRCm39) C132* probably null Het
Slco3a1 T C 7: 74,154,128 (GRCm39) D148G possibly damaging Het
Smtn G A 11: 3,480,102 (GRCm39) P373L probably benign Het
Snx20 A T 8: 89,356,597 (GRCm39) L73Q probably damaging Het
Sobp A G 10: 43,033,942 (GRCm39) V128A possibly damaging Het
Tcerg1 A G 18: 42,657,357 (GRCm39) T280A unknown Het
Tgfbrap1 A G 1: 43,088,973 (GRCm39) V810A probably benign Het
Thbs1 C A 2: 117,949,678 (GRCm39) D589E probably damaging Het
Tjp2 A G 19: 24,078,239 (GRCm39) Y885H probably damaging Het
Tmem109 A G 19: 10,849,993 (GRCm39) S100P probably damaging Het
Trim36 T C 18: 46,305,562 (GRCm39) K462E probably benign Het
Vmn1r226 A T 17: 20,908,538 (GRCm39) I257F probably damaging Het
Vmn2r92 A G 17: 18,372,352 (GRCm39) Y54C probably damaging Het
Wdcp T A 12: 4,901,924 (GRCm39) Y593* probably null Het
Wdr59 T C 8: 112,177,682 (GRCm39) S907G probably damaging Het
Other mutations in Acad10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02379:Acad10 APN 5 121,760,106 (GRCm39) missense probably damaging 1.00
IGL02469:Acad10 APN 5 121,783,522 (GRCm39) missense probably damaging 1.00
IGL02526:Acad10 APN 5 121,784,923 (GRCm39) missense probably damaging 0.99
IGL02623:Acad10 APN 5 121,767,993 (GRCm39) missense possibly damaging 0.94
IGL02643:Acad10 APN 5 121,769,633 (GRCm39) missense probably benign
IGL02685:Acad10 APN 5 121,770,672 (GRCm39) missense probably benign
IGL03139:Acad10 APN 5 121,764,145 (GRCm39) missense probably benign
IGL03267:Acad10 APN 5 121,775,412 (GRCm39) missense probably benign 0.34
P0026:Acad10 UTSW 5 121,775,415 (GRCm39) missense probably damaging 1.00
R0099:Acad10 UTSW 5 121,759,353 (GRCm39) missense probably damaging 1.00
R0453:Acad10 UTSW 5 121,765,445 (GRCm39) nonsense probably null
R1051:Acad10 UTSW 5 121,764,143 (GRCm39) missense probably damaging 0.97
R1052:Acad10 UTSW 5 121,787,604 (GRCm39) missense possibly damaging 0.65
R1116:Acad10 UTSW 5 121,768,814 (GRCm39) missense probably damaging 1.00
R1548:Acad10 UTSW 5 121,764,104 (GRCm39) splice site probably benign
R1548:Acad10 UTSW 5 121,764,103 (GRCm39) splice site probably benign
R1592:Acad10 UTSW 5 121,783,444 (GRCm39) missense probably damaging 0.99
R1741:Acad10 UTSW 5 121,785,899 (GRCm39) missense probably damaging 1.00
R1789:Acad10 UTSW 5 121,769,456 (GRCm39) missense possibly damaging 0.67
R1974:Acad10 UTSW 5 121,764,248 (GRCm39) missense possibly damaging 0.95
R2007:Acad10 UTSW 5 121,772,814 (GRCm39) missense probably damaging 1.00
R2085:Acad10 UTSW 5 121,787,523 (GRCm39) missense possibly damaging 0.79
R2351:Acad10 UTSW 5 121,767,990 (GRCm39) missense probably benign 0.23
R2511:Acad10 UTSW 5 121,769,630 (GRCm39) missense probably benign 0.02
R2570:Acad10 UTSW 5 121,768,267 (GRCm39) missense probably damaging 1.00
R3824:Acad10 UTSW 5 121,760,881 (GRCm39) missense probably benign
R3846:Acad10 UTSW 5 121,772,749 (GRCm39) missense probably benign 0.19
R4106:Acad10 UTSW 5 121,769,527 (GRCm39) missense probably damaging 0.98
R4107:Acad10 UTSW 5 121,769,527 (GRCm39) missense probably damaging 0.98
R4108:Acad10 UTSW 5 121,769,527 (GRCm39) missense probably damaging 0.98
R5569:Acad10 UTSW 5 121,764,143 (GRCm39) missense probably damaging 0.97
R5704:Acad10 UTSW 5 121,769,606 (GRCm39) missense probably benign 0.03
R5845:Acad10 UTSW 5 121,764,146 (GRCm39) missense probably benign
R5990:Acad10 UTSW 5 121,783,468 (GRCm39) missense probably damaging 1.00
R6019:Acad10 UTSW 5 121,772,864 (GRCm39) missense possibly damaging 0.88
R6145:Acad10 UTSW 5 121,760,096 (GRCm39) missense probably damaging 0.97
R6384:Acad10 UTSW 5 121,790,066 (GRCm39) missense probably benign 0.43
R6491:Acad10 UTSW 5 121,768,220 (GRCm39) missense probably damaging 1.00
R6608:Acad10 UTSW 5 121,770,555 (GRCm39) missense probably benign 0.02
R6941:Acad10 UTSW 5 121,787,420 (GRCm39) missense probably damaging 1.00
R7221:Acad10 UTSW 5 121,768,273 (GRCm39) missense probably damaging 1.00
R7283:Acad10 UTSW 5 121,787,538 (GRCm39) missense possibly damaging 0.79
R7355:Acad10 UTSW 5 121,768,780 (GRCm39) nonsense probably null
R7483:Acad10 UTSW 5 121,794,075 (GRCm39) critical splice donor site probably null
R7553:Acad10 UTSW 5 121,777,318 (GRCm39) missense probably damaging 1.00
R7721:Acad10 UTSW 5 121,784,929 (GRCm39) splice site probably null
R8075:Acad10 UTSW 5 121,790,148 (GRCm39) missense probably benign 0.00
R8400:Acad10 UTSW 5 121,764,268 (GRCm39) missense possibly damaging 0.82
R9171:Acad10 UTSW 5 121,767,981 (GRCm39) missense probably benign 0.14
X0061:Acad10 UTSW 5 121,760,876 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCCCAGACTGAGTTGCTGGATAGG -3'
(R):5'- TTGGTGAGCAGGGCATCCAAAG -3'

Sequencing Primer
(F):5'- GATGTGAGGACCACACATAGC -3'
(R):5'- GGATGACAATATGGCCCTATGTG -3'
Posted On 2014-05-09