Incidental Mutation 'IGL00966:Acad11'
ID 28239
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Acad11
Ensembl Gene ENSMUSG00000090150
Gene Name acyl-Coenzyme A dehydrogenase family, member 11
Synonyms 5730439E10Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.106) question?
Stock # IGL00966
Quality Score
Status
Chromosome 9
Chromosomal Location 103940923-104004855 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 104003855 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 649 (E649G)
Ref Sequence ENSEMBL: ENSMUSP00000112994 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047799] [ENSMUST00000076147] [ENSMUST00000120854]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000047799
AA Change: E767G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000043424
Gene: ENSMUSG00000090150
AA Change: E767G

DomainStartEndE-ValueType
Pfam:APH 43 307 3.5e-45 PFAM
Pfam:Acyl-CoA_dh_N 376 498 1.5e-13 PFAM
Pfam:Acyl-CoA_dh_M 502 605 1.7e-21 PFAM
Pfam:Acyl-CoA_dh_1 617 768 2.7e-36 PFAM
Pfam:Acyl-CoA_dh_2 632 743 2e-12 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000076147
SMART Domains Protein: ENSMUSP00000075507
Gene: ENSMUSG00000079355

DomainStartEndE-ValueType
low complexity region 10 20 N/A INTRINSIC
Pfam:7tm_1 58 303 8.9e-51 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000120854
AA Change: E649G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000112994
Gene: ENSMUSG00000090150
AA Change: E649G

DomainStartEndE-ValueType
Pfam:APH 1 188 1.1e-28 PFAM
Pfam:EcKinase 49 143 4.8e-9 PFAM
Pfam:Acyl-CoA_dh_N 257 380 8.7e-15 PFAM
Pfam:Acyl-CoA_dh_M 385 439 2.4e-19 PFAM
Pfam:Acyl-CoA_dh_1 499 650 1.3e-37 PFAM
Pfam:Acyl-CoA_dh_2 514 632 2.7e-13 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128714
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216220
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an acyl-CoA dehydrogenase enzyme with a preference for carbon chain lengths between 20 and 26. Naturally occurring read-through transcription occurs between the upstream gene NPHP3 (nephronophthisis 3 (adolescent)) and this gene. [provided by RefSeq, Aug 2015]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgre1 C A 17: 57,726,335 (GRCm39) T402K probably benign Het
Agap3 A G 5: 24,706,000 (GRCm39) probably benign Het
Amy1 T C 3: 113,349,689 (GRCm39) I494V probably benign Het
Arhgef40 G A 14: 52,229,155 (GRCm39) probably null Het
Atp2c2 T C 8: 120,472,329 (GRCm39) V461A probably benign Het
Bub1 A G 2: 127,652,583 (GRCm39) S595P probably damaging Het
Cdcp3 T A 7: 130,844,836 (GRCm39) Y692* probably null Het
Cmya5 C T 13: 93,234,414 (GRCm39) V225I probably benign Het
Cnbd1 T C 4: 18,906,988 (GRCm39) probably benign Het
Cux1 A T 5: 136,340,345 (GRCm39) probably benign Het
Dsg3 T A 18: 20,656,664 (GRCm39) I178N probably benign Het
Dus2 T A 8: 106,752,533 (GRCm39) probably null Het
Enpp1 G A 10: 24,529,929 (GRCm39) H570Y probably damaging Het
Ephb3 A C 16: 21,036,044 (GRCm39) T57P probably benign Het
Fat3 C A 9: 15,910,390 (GRCm39) V1871F possibly damaging Het
Fbll1 T C 11: 35,688,874 (GRCm39) T130A probably benign Het
Fbxl20 C T 11: 98,001,800 (GRCm39) S99N probably damaging Het
Folr2 T C 7: 101,489,593 (GRCm39) E182G probably damaging Het
Fras1 A G 5: 96,703,080 (GRCm39) D281G probably benign Het
Gm17175 G T 14: 51,810,526 (GRCm39) Q34K possibly damaging Het
Gm5592 T A 7: 40,938,519 (GRCm39) D600E probably damaging Het
Gtf2e1 T C 16: 37,336,092 (GRCm39) E294G probably benign Het
Gtf3c2 A G 5: 31,327,517 (GRCm39) probably benign Het
Heg1 T C 16: 33,530,977 (GRCm39) L151P probably damaging Het
Hmcn2 T G 2: 31,319,006 (GRCm39) V3902G probably damaging Het
Ift140 A G 17: 25,237,776 (GRCm39) Y4C probably damaging Het
Ighv1-19 A C 12: 114,672,569 (GRCm39) V17G possibly damaging Het
Iqca1 T A 1: 89,973,379 (GRCm39) I770F probably benign Het
Jak3 T A 8: 72,131,656 (GRCm39) C115S probably benign Het
Kif18b A T 11: 102,805,501 (GRCm39) M252K probably damaging Het
Klhdc7a A T 4: 139,694,236 (GRCm39) V237D probably benign Het
Klhl11 C T 11: 100,354,031 (GRCm39) V597I possibly damaging Het
Krt72 T A 15: 101,689,396 (GRCm39) Y312F probably damaging Het
Lonp2 T A 8: 87,360,600 (GRCm39) I191N probably damaging Het
Npc2 A T 12: 84,819,619 (GRCm39) I8N possibly damaging Het
Nr4a1 T C 15: 101,170,669 (GRCm39) L413P probably damaging Het
Nup133 T C 8: 124,638,645 (GRCm39) N895S probably damaging Het
Or7e175 T C 9: 20,048,531 (GRCm39) F40L probably benign Het
Ppef1 A G X: 159,468,290 (GRCm39) I94T probably benign Het
Prrt4 G A 6: 29,176,455 (GRCm39) T290I probably benign Het
Ptpru A T 4: 131,499,927 (GRCm39) V1239E probably damaging Het
Rab8b T G 9: 66,760,274 (GRCm39) M117L probably benign Het
S1pr5 T A 9: 21,155,512 (GRCm39) I305F possibly damaging Het
Sdr39u1 A G 14: 56,135,463 (GRCm39) V160A probably damaging Het
Slc6a21 C T 7: 44,937,668 (GRCm39) T653M probably benign Het
Stk39 T A 2: 68,042,302 (GRCm39) E544D probably benign Het
Tgfbr3 T C 5: 107,290,367 (GRCm39) T313A probably benign Het
Tle6 A T 10: 81,430,292 (GRCm39) L287M probably damaging Het
Tmc2 A G 2: 130,105,932 (GRCm39) H821R probably benign Het
Tmem230 G T 2: 132,087,897 (GRCm39) D26E probably benign Het
Tnfaip3 A G 10: 18,880,885 (GRCm39) F394S probably damaging Het
Ttn T A 2: 76,641,721 (GRCm39) L13458F probably damaging Het
Vwa5a A T 9: 38,634,675 (GRCm39) N161I probably benign Het
Wdr87-ps C A 7: 29,236,888 (GRCm39) noncoding transcript Het
Other mutations in Acad11
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01100:Acad11 APN 9 103,953,607 (GRCm39) missense probably damaging 0.98
IGL01920:Acad11 APN 9 103,941,104 (GRCm39) critical splice donor site probably null
IGL02019:Acad11 APN 9 103,992,544 (GRCm39) missense probably damaging 1.00
IGL02506:Acad11 APN 9 103,968,931 (GRCm39) critical splice donor site probably null
IGL02742:Acad11 APN 9 103,972,824 (GRCm39) missense probably damaging 1.00
IGL02830:Acad11 APN 9 103,953,118 (GRCm39) missense probably damaging 1.00
IGL02936:Acad11 APN 9 103,990,711 (GRCm39) missense probably benign 0.31
R0092:Acad11 UTSW 9 103,967,540 (GRCm39) splice site probably benign
R0277:Acad11 UTSW 9 104,001,224 (GRCm39) missense probably damaging 1.00
R0377:Acad11 UTSW 9 103,958,891 (GRCm39) splice site probably benign
R0411:Acad11 UTSW 9 103,993,495 (GRCm39) missense probably damaging 1.00
R0556:Acad11 UTSW 9 103,992,501 (GRCm39) missense probably damaging 1.00
R0594:Acad11 UTSW 9 103,972,762 (GRCm39) missense probably benign 0.09
R0688:Acad11 UTSW 9 104,001,299 (GRCm39) missense probably damaging 1.00
R1416:Acad11 UTSW 9 103,950,822 (GRCm39) missense probably damaging 0.96
R1551:Acad11 UTSW 9 104,003,785 (GRCm39) missense probably damaging 0.99
R1730:Acad11 UTSW 9 103,941,081 (GRCm39) missense probably benign 0.02
R1819:Acad11 UTSW 9 103,991,738 (GRCm39) critical splice donor site probably null
R1884:Acad11 UTSW 9 103,991,684 (GRCm39) missense probably benign 0.13
R2411:Acad11 UTSW 9 103,963,222 (GRCm39) intron probably benign
R3055:Acad11 UTSW 9 103,953,535 (GRCm39) missense probably damaging 0.98
R3683:Acad11 UTSW 9 103,992,543 (GRCm39) missense probably damaging 1.00
R3954:Acad11 UTSW 9 103,963,351 (GRCm39) intron probably benign
R3956:Acad11 UTSW 9 103,963,351 (GRCm39) intron probably benign
R4425:Acad11 UTSW 9 103,950,844 (GRCm39) missense probably damaging 1.00
R4557:Acad11 UTSW 9 103,960,038 (GRCm39) missense probably benign 0.00
R4701:Acad11 UTSW 9 103,972,764 (GRCm39) nonsense probably null
R4764:Acad11 UTSW 9 103,953,076 (GRCm39) missense probably damaging 0.99
R4872:Acad11 UTSW 9 103,963,465 (GRCm39) intron probably benign
R5132:Acad11 UTSW 9 104,003,791 (GRCm39) missense probably benign 0.03
R5161:Acad11 UTSW 9 104,001,227 (GRCm39) missense probably benign 0.19
R5222:Acad11 UTSW 9 103,974,576 (GRCm39) missense probably damaging 1.00
R5587:Acad11 UTSW 9 103,940,966 (GRCm39) missense probably benign
R5683:Acad11 UTSW 9 103,961,482 (GRCm39) missense probably damaging 1.00
R6512:Acad11 UTSW 9 103,972,758 (GRCm39) nonsense probably null
R6815:Acad11 UTSW 9 103,958,526 (GRCm39) missense probably benign 0.01
R7035:Acad11 UTSW 9 103,990,694 (GRCm39) missense probably damaging 1.00
R7318:Acad11 UTSW 9 103,958,466 (GRCm39) missense probably damaging 1.00
R7564:Acad11 UTSW 9 104,000,288 (GRCm39) missense possibly damaging 0.94
R7673:Acad11 UTSW 9 103,941,105 (GRCm39) splice site probably null
R7812:Acad11 UTSW 9 103,972,747 (GRCm39) missense probably benign 0.41
R7850:Acad11 UTSW 9 103,991,728 (GRCm39) missense probably damaging 1.00
R8037:Acad11 UTSW 9 103,953,035 (GRCm39) missense possibly damaging 0.93
R8251:Acad11 UTSW 9 103,968,906 (GRCm39) missense possibly damaging 0.88
R9021:Acad11 UTSW 9 104,003,864 (GRCm39) missense possibly damaging 0.88
R9657:Acad11 UTSW 9 103,953,035 (GRCm39) missense possibly damaging 0.93
Posted On 2013-04-17