Incidental Mutation 'R6145:Acad10'
ID 488810
Institutional Source Beutler Lab
Gene Symbol Acad10
Ensembl Gene ENSMUSG00000029456
Gene Name acyl-Coenzyme A dehydrogenase family, member 10
Synonyms 2410021P16Rik
MMRRC Submission 044292-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6145 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 121621026-121660514 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 121622033 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 999 (V999D)
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: V999D

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000031412
Gene: ENSMUSG00000029456
AA Change: V999D

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: V999D

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000107400
Gene: ENSMUSG00000029456
AA Change: V999D

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: 99.9%
  • 3x: 99.5%
  • 10x: 98.0%
  • 20x: 95.0%
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810459M11Rik T A 1: 86,052,942 (GRCm38) probably null Het
Abca8b A G 11: 109,973,808 (GRCm38) V316A probably benign Het
Acot8 A G 2: 164,803,065 (GRCm38) V66A probably benign Het
Ankrd11 T C 8: 122,892,661 (GRCm38) H1484R probably damaging Het
Anxa6 A G 11: 54,994,904 (GRCm38) F405S probably damaging Het
Asmt G A X: 170,674,663 (GRCm38) V101I probably damaging Het
Atp1a2 C T 1: 172,287,238 (GRCm38) V327I probably damaging Het
Brdt A G 5: 107,377,999 (GRCm38) E906G possibly damaging Het
Cacna1g A T 11: 94,462,261 (GRCm38) C313S probably damaging Het
Camk2d T C 3: 126,805,858 (GRCm38) I329T probably benign Het
Cavin4 A T 4: 48,663,794 (GRCm38) H58L probably damaging Het
Ccdc78 C A 17: 25,789,065 (GRCm38) P317T probably benign Het
Cdc16 T G 8: 13,767,573 (GRCm38) Y295D possibly damaging Het
Cdyl2 T A 8: 116,594,978 (GRCm38) N270I probably damaging Het
Cfap221 T A 1: 119,984,816 (GRCm38) I114F possibly damaging Het
Dmxl1 A G 18: 49,912,766 (GRCm38) E2414G possibly damaging Het
Dnaaf9 T C 2: 130,778,473 (GRCm38) I247V probably benign Het
Dnah1 C A 14: 31,300,970 (GRCm38) R1070L probably benign Het
Dnah14 T C 1: 181,666,417 (GRCm38) S1713P probably benign Het
Dock10 C A 1: 80,575,904 (GRCm38) G602* probably null Het
Ep400 A T 5: 110,756,703 (GRCm38) V10D possibly damaging Het
Epas1 T C 17: 86,829,429 (GRCm38) C807R probably benign Het
Esrrb C T 12: 86,505,899 (GRCm38) P200L probably benign Het
Fbxw26 T C 9: 109,732,623 (GRCm38) I168V probably benign Het
Fsip2 A T 2: 82,993,768 (GRCm38) H6615L possibly damaging Het
Galk2 A T 2: 125,946,842 (GRCm38) Q272L possibly damaging Het
Gas7 A C 11: 67,629,612 (GRCm38) T43P probably damaging Het
Gm5134 A T 10: 75,995,839 (GRCm38) I371F probably damaging Het
Gpr31b C T 17: 13,051,379 (GRCm38) R301Q possibly damaging Het
Grk1 T A 8: 13,405,765 (GRCm38) Y216* probably null Het
Grm5 T A 7: 88,026,601 (GRCm38) M441K probably damaging Het
Heatr6 A G 11: 83,766,136 (GRCm38) E408G probably damaging Het
Hoxc9 G T 15: 102,983,959 (GRCm38) K201N probably damaging Het
Igsf10 T A 3: 59,331,656 (GRCm38) Y368F possibly damaging Het
Il2ra A T 2: 11,680,246 (GRCm38) D131V probably damaging Het
Imp4 A G 1: 34,440,096 (GRCm38) E19G probably benign Het
Kcnk18 T C 19: 59,235,607 (GRCm38) *395Q probably null Het
Kdm6b A T 11: 69,405,026 (GRCm38) L805Q unknown Het
Lgr4 T A 2: 110,007,243 (GRCm38) L427* probably null Het
Myt1l G A 12: 29,832,381 (GRCm38) S525N unknown Het
Nasp G A 4: 116,611,077 (GRCm38) T237I probably benign Het
Nell2 G T 15: 95,473,561 (GRCm38) Q98K probably damaging Het
Nfasc C T 1: 132,634,717 (GRCm38) G107R probably damaging Het
Nsun4 A G 4: 116,040,206 (GRCm38) S203P probably damaging Het
Or1m1 T G 9: 18,755,569 (GRCm38) D22A probably benign Het
Or7g35 T C 9: 19,584,888 (GRCm38) V117A probably benign Het
Otogl G A 10: 107,777,117 (GRCm38) silent Het
Pde10a T C 17: 8,929,117 (GRCm38) V366A probably damaging Het
Pdxk T A 10: 78,443,791 (GRCm38) D250V probably benign Het
Pih1d1 T A 7: 45,159,044 (GRCm38) I179N probably damaging Het
Plaa T A 4: 94,583,992 (GRCm38) I294F probably damaging Het
Pmel C A 10: 128,715,935 (GRCm38) P213T probably damaging Het
Pom121l2 A T 13: 21,982,302 (GRCm38) R248* probably null Het
Pou2f1 T C 1: 165,875,433 (GRCm38) probably benign Het
Ppm1j G A 3: 104,781,379 (GRCm38) R98H probably damaging Het
Prkdc C T 16: 15,772,073 (GRCm38) P2600L probably damaging Het
Prom1 T C 5: 44,029,649 (GRCm38) N422S probably benign Het
Pspn C T 17: 56,999,467 (GRCm38) C154Y probably damaging Het
Ptdss1 T C 13: 66,972,637 (GRCm38) probably null Het
Rapgef1 A G 2: 29,736,666 (GRCm38) Y993C probably damaging Het
Scrn2 A C 11: 97,032,853 (GRCm38) T219P probably benign Het
Sec23ip T G 7: 128,778,484 (GRCm38) S874R probably damaging Het
Sept4 G A 11: 87,585,246 (GRCm38) probably null Het
Slc15a3 C T 19: 10,857,251 (GRCm38) L499F probably damaging Het
Spaca9 G A 2: 28,693,781 (GRCm38) R64W probably damaging Het
Sra1 A G 18: 36,667,575 (GRCm38) M193T probably damaging Het
Srsf4 G T 4: 131,900,294 (GRCm38) probably benign Het
Syne1 T C 10: 5,052,750 (GRCm38) D8055G probably damaging Het
Syne4 T A 7: 30,316,563 (GRCm38) probably null Het
Tbc1d24 C A 17: 24,208,229 (GRCm38) G253V probably damaging Het
Tbck T A 3: 132,732,215 (GRCm38) I467N probably damaging Het
Tln1 T A 4: 43,538,030 (GRCm38) M1857L possibly damaging Het
Ttll2 T C 17: 7,351,632 (GRCm38) R299G probably benign Het
Ugt2b36 T G 5: 87,066,213 (GRCm38) E524A probably benign Het
Vmn2r124 C T 17: 18,062,851 (GRCm38) T269I probably benign Het
Vmn2r4 A G 3: 64,406,943 (GRCm38) F206L probably benign Het
Zfp346 A G 13: 55,115,574 (GRCm38) K156R probably damaging Het
Other mutations in Acad10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02379:Acad10 APN 5 121,622,043 (GRCm38) missense probably damaging 1.00
IGL02469:Acad10 APN 5 121,645,459 (GRCm38) missense probably damaging 1.00
IGL02526:Acad10 APN 5 121,646,860 (GRCm38) missense probably damaging 0.99
IGL02623:Acad10 APN 5 121,629,930 (GRCm38) missense possibly damaging 0.94
IGL02643:Acad10 APN 5 121,631,570 (GRCm38) missense probably benign
IGL02685:Acad10 APN 5 121,632,609 (GRCm38) missense probably benign
IGL03139:Acad10 APN 5 121,626,082 (GRCm38) missense probably benign
IGL03267:Acad10 APN 5 121,637,349 (GRCm38) missense probably benign 0.34
P0026:Acad10 UTSW 5 121,637,352 (GRCm38) missense probably damaging 1.00
R0099:Acad10 UTSW 5 121,621,290 (GRCm38) missense probably damaging 1.00
R0453:Acad10 UTSW 5 121,627,382 (GRCm38) nonsense probably null
R1051:Acad10 UTSW 5 121,626,080 (GRCm38) missense probably damaging 0.97
R1052:Acad10 UTSW 5 121,649,541 (GRCm38) missense possibly damaging 0.65
R1116:Acad10 UTSW 5 121,630,751 (GRCm38) missense probably damaging 1.00
R1548:Acad10 UTSW 5 121,626,041 (GRCm38) splice site probably benign
R1548:Acad10 UTSW 5 121,626,040 (GRCm38) splice site probably benign
R1571:Acad10 UTSW 5 121,621,348 (GRCm38) missense probably damaging 0.99
R1592:Acad10 UTSW 5 121,645,381 (GRCm38) missense probably damaging 0.99
R1741:Acad10 UTSW 5 121,647,836 (GRCm38) missense probably damaging 1.00
R1789:Acad10 UTSW 5 121,631,393 (GRCm38) missense possibly damaging 0.67
R1974:Acad10 UTSW 5 121,626,185 (GRCm38) missense possibly damaging 0.95
R2007:Acad10 UTSW 5 121,634,751 (GRCm38) missense probably damaging 1.00
R2085:Acad10 UTSW 5 121,649,460 (GRCm38) missense possibly damaging 0.79
R2351:Acad10 UTSW 5 121,629,927 (GRCm38) missense probably benign 0.23
R2511:Acad10 UTSW 5 121,631,567 (GRCm38) missense probably benign 0.02
R2570:Acad10 UTSW 5 121,630,204 (GRCm38) missense probably damaging 1.00
R3824:Acad10 UTSW 5 121,622,818 (GRCm38) missense probably benign
R3846:Acad10 UTSW 5 121,634,686 (GRCm38) missense probably benign 0.19
R4106:Acad10 UTSW 5 121,631,464 (GRCm38) missense probably damaging 0.98
R4107:Acad10 UTSW 5 121,631,464 (GRCm38) missense probably damaging 0.98
R4108:Acad10 UTSW 5 121,631,464 (GRCm38) missense probably damaging 0.98
R5569:Acad10 UTSW 5 121,626,080 (GRCm38) missense probably damaging 0.97
R5704:Acad10 UTSW 5 121,631,543 (GRCm38) missense probably benign 0.03
R5845:Acad10 UTSW 5 121,626,083 (GRCm38) missense probably benign
R5990:Acad10 UTSW 5 121,645,405 (GRCm38) missense probably damaging 1.00
R6019:Acad10 UTSW 5 121,634,801 (GRCm38) missense possibly damaging 0.88
R6384:Acad10 UTSW 5 121,652,003 (GRCm38) missense probably benign 0.43
R6491:Acad10 UTSW 5 121,630,157 (GRCm38) missense probably damaging 1.00
R6608:Acad10 UTSW 5 121,632,492 (GRCm38) missense probably benign 0.02
R6941:Acad10 UTSW 5 121,649,357 (GRCm38) missense probably damaging 1.00
R7221:Acad10 UTSW 5 121,630,210 (GRCm38) missense probably damaging 1.00
R7283:Acad10 UTSW 5 121,649,475 (GRCm38) missense possibly damaging 0.79
R7355:Acad10 UTSW 5 121,630,717 (GRCm38) nonsense probably null
R7483:Acad10 UTSW 5 121,656,012 (GRCm38) critical splice donor site probably null
R7553:Acad10 UTSW 5 121,639,255 (GRCm38) missense probably damaging 1.00
R7721:Acad10 UTSW 5 121,646,866 (GRCm38) splice site probably null
R8075:Acad10 UTSW 5 121,652,085 (GRCm38) missense probably benign 0.00
R8400:Acad10 UTSW 5 121,626,205 (GRCm38) missense possibly damaging 0.82
R9171:Acad10 UTSW 5 121,629,918 (GRCm38) missense probably benign 0.14
X0061:Acad10 UTSW 5 121,622,813 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGTGAACAGGAACAGGCCTC -3'
(R):5'- AGTGGAGCCAGGTATTCTGTC -3'

Sequencing Primer
(F):5'- GTAGTGGTACATGCCTTTAATCCCAG -3'
(R):5'- CAGGTATTCTGTCCCGGGTTC -3'
Posted On 2017-10-10