Incidental Mutation 'R7380:Acads'
ID572626
Institutional Source Beutler Lab
Gene Symbol Acads
Ensembl Gene ENSMUSG00000029545
Gene Nameacyl-Coenzyme A dehydrogenase, short chain
SynonymsBcd-1, Hdlq8, Bcd1, SCAD
MMRRC Submission
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.427) question?
Stock #R7380 (G1)
Quality Score225.009
Status Validated
Chromosome5
Chromosomal Location115110299-115119346 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 115110998 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Histidine at position 365 (Q365H)
Ref Sequence ENSEMBL: ENSMUSP00000031524 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031524]
Predicted Effect probably damaging
Transcript: ENSMUST00000031524
AA Change: Q365H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000031524
Gene: ENSMUSG00000029545
AA Change: Q365H

DomainStartEndE-ValueType
low complexity region 2 18 N/A INTRINSIC
Pfam:Acyl-CoA_dh_N 35 147 1e-37 PFAM
Pfam:Acyl-CoA_dh_M 151 246 6.1e-28 PFAM
Pfam:Acyl-CoA_dh_1 258 407 3.6e-52 PFAM
Pfam:Acyl-CoA_dh_2 273 396 6e-25 PFAM
Meta Mutation Damage Score 0.8777 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 98% (79/81)
MGI Phenotype FUNCTION: This gene encodes a homotetrameric mitochondrial flavoprotein and is a member of the acyl-CoA dehydrogenase family. Members of this family catalyze the first step of fatty acid beta-oxidation, forming a C2-C3 trans-double bond in a FAD-dependent reaction. As beta-oxidation cycles through its four steps, each member of the Acyl-CoA dehydrogenase family works at an optimum fatty acid chain-length. This enzyme has its optimum at C(four)-CoA. In mice, deficiency of this gene has been linked to cold sensitivity and increased high-density lipoprotein levels. [provided by RefSeq, Nov 2012]
PHENOTYPE: Mice homozygous for disruptions in this gene display organic aciduria and develop hypoglycemia and fatty livers after fasting. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1300017J02Rik G A 9: 103,279,481 Q127* probably null Het
1700030J22Rik T C 8: 116,973,637 T9A probably benign Het
Abcc5 A T 16: 20,397,034 S414R possibly damaging Het
Ankib1 G T 5: 3,722,576 Q487K probably benign Het
BC034090 T G 1: 155,232,483 S11R probably damaging Het
Car12 A G 9: 66,747,663 N125S probably benign Het
Casq1 A G 1: 172,216,849 V137A probably benign Het
Ccdc144b T A 3: 36,025,921 D229V possibly damaging Het
Cd163l1 A T 7: 140,224,877 N598Y possibly damaging Het
Cfap54 C A 10: 93,047,978 V305F probably damaging Het
Clstn3 T C 6: 124,456,989 E404G probably benign Het
Copg1 T G 6: 87,893,842 L209R probably damaging Het
Cpb2 A T 14: 75,256,009 Q42L possibly damaging Het
Cpd G A 11: 76,802,325 Q712* probably null Het
Csmd3 T A 15: 47,586,965 Y2690F Het
Dchs1 G T 7: 105,758,628 T1999K probably benign Het
Ddx10 T A 9: 53,240,486 T80S probably damaging Het
Dmtn G A 14: 70,617,328 T69I probably damaging Het
Dnah5 T A 15: 28,370,378 H2821Q probably damaging Het
Fam162b T A 10: 51,590,476 probably benign Het
Fam193b A C 13: 55,542,799 S717A probably benign Het
Far2 T C 6: 148,180,995 F500L unknown Het
Focad T A 4: 88,274,198 V588D unknown Het
Gm12728 T C 4: 105,794,396 F68L probably damaging Het
Gm1527 T A 3: 28,920,472 M478K probably benign Het
Gpd2 A T 2: 57,340,159 I308F probably damaging Het
Igf2bp3 T C 6: 49,108,999 T249A probably benign Het
Igfn1 C A 1: 135,962,008 V2434F probably damaging Het
Kdm5a C A 6: 120,405,918 Q737K probably benign Het
Khdrbs2 T C 1: 32,333,604 S120P unknown Het
Lmx1a T C 1: 167,692,040 F46L probably damaging Het
Lrba C G 3: 86,325,074 T776R probably damaging Het
Lrrc8c A G 5: 105,607,835 N492S possibly damaging Het
Mapk3 A T 7: 126,764,795 I365F Het
Mcee A G 7: 64,411,909 I153M possibly damaging Het
Mllt3 T C 4: 87,791,943 D415G possibly damaging Het
Muc4 A T 16: 32,755,366 T1747S unknown Het
Myh14 A T 7: 44,661,042 V139E probably damaging Het
Myo10 A T 15: 25,779,620 I772L probably benign Het
Naa15 T G 3: 51,459,847 probably null Het
Nbeal1 T A 1: 60,244,810 I841N probably damaging Het
Nf1 C T 11: 79,546,276 T2006I probably damaging Het
Npr2 T A 4: 43,641,254 W427R probably damaging Het
Nr1h3 A T 2: 91,190,195 F324L possibly damaging Het
Obscn T C 11: 59,056,914 K4430E Het
Olfr203 A G 16: 59,304,028 R292G probably damaging Het
Olfr213 T C 6: 116,540,933 L160P probably benign Het
Olfr396-ps1 T A 11: 73,928,187 Y61N possibly damaging Het
Olfr791 A T 10: 129,526,661 T145S probably benign Het
Osgin1 T A 8: 119,445,431 H321Q probably benign Het
P4ha1 A G 10: 59,350,451 I251V probably benign Het
Padi2 G A 4: 140,917,686 W77* probably null Het
Pkd1 T A 17: 24,581,642 I3086N probably damaging Het
Plk3 T C 4: 117,131,153 N360S probably benign Het
Prr14 A T 7: 127,476,442 S541C probably null Het
Ptch2 C A 4: 117,114,646 Q1122K possibly damaging Het
Rab3gap1 T C 1: 127,937,990 V764A possibly damaging Het
Rad50 T C 11: 53,695,396 I258V probably benign Het
Rapgef3 G T 15: 97,766,791 R64S probably benign Het
Rbm44 A G 1: 91,152,216 N42S possibly damaging Het
Ring1 T C 17: 34,021,720 Y361C probably damaging Het
Robo3 T C 9: 37,418,556 T1155A probably damaging Het
Rsf1 GGCGG GGCGGTGGCCGCGG 7: 97,579,915 probably benign Het
Ryr3 T C 2: 112,640,157 T4682A probably damaging Het
Sema7a T C 9: 57,961,564 V653A unknown Het
Slc16a13 T C 11: 70,219,279 Y132C probably damaging Het
Slc24a1 A G 9: 64,948,533 V364A unknown Het
Slc8a2 C T 7: 16,134,353 A170V probably damaging Het
Slfn8 C T 11: 83,003,740 R691Q not run Het
Snx2 T C 18: 53,194,568 V122A probably benign Het
Sstr1 A T 12: 58,213,280 M230L probably benign Het
Themis2 C T 4: 132,786,217 V233I possibly damaging Het
Tmem106b T C 6: 13,078,168 S121P probably damaging Het
Tmem63c A G 12: 87,077,948 I529V probably benign Het
Tmem94 T C 11: 115,796,145 probably null Het
Trmt10c A T 16: 56,034,256 W339R probably damaging Het
Ugt2b1 A T 5: 86,917,719 F487Y not run Het
Vmn2r91 T A 17: 18,136,576 L835* probably null Het
Vps52 C A 17: 33,958,309 N108K possibly damaging Het
Wdpcp T A 11: 21,711,585 C286S possibly damaging Het
Zfp959 T A 17: 55,898,551 H529Q possibly damaging Het
Other mutations in Acads
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02325:Acads APN 5 115111954 missense probably damaging 1.00
IGL02650:Acads APN 5 115112815 missense probably benign 0.17
R1871:Acads UTSW 5 115117642 missense probably damaging 0.99
R3110:Acads UTSW 5 115117698 missense probably benign
R3112:Acads UTSW 5 115117698 missense probably benign
R4109:Acads UTSW 5 115110854 makesense probably null
R4595:Acads UTSW 5 115113064 missense probably damaging 1.00
R4799:Acads UTSW 5 115113090 missense probably benign 0.41
R6841:Acads UTSW 5 115112358 missense probably benign 0.03
R6932:Acads UTSW 5 115112272 missense probably damaging 1.00
R7381:Acads UTSW 5 115110998 missense probably damaging 1.00
R7436:Acads UTSW 5 115110998 missense probably damaging 1.00
R7792:Acads UTSW 5 115112781 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CAGGCCTCAAAGTTAAGCCATG -3'
(R):5'- AAGTGAAGGCATTGACTTTGC -3'

Sequencing Primer
(F):5'- CCTCGGTCTGCAGGCAG -3'
(R):5'- GCATTGACTTTGCCGTTCTTG -3'
Posted On2019-09-13