Incidental Mutation 'R3683:Acad11'
ID 269435
Institutional Source Beutler Lab
Gene Symbol Acad11
Ensembl Gene ENSMUSG00000090150
Gene Name acyl-Coenzyme A dehydrogenase family, member 11
Synonyms 5730439E10Rik
MMRRC Submission 040681-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.106) question?
Stock # R3683 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 103940923-104004855 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 103992543 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 495 (I495T)
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: I613T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000043424
Gene: ENSMUSG00000090150
AA Change: I613T

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: I495T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000112994
Gene: ENSMUSG00000090150
AA Change: I495T

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: ENSMUST00000154431
Predicted Effect noncoding transcript
Transcript: ENSMUST00000189133
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.5%
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930595M18Rik T C X: 80,463,841 (GRCm39) D622G possibly damaging Het
Acat1 C T 9: 53,498,765 (GRCm39) A307T probably damaging Het
Ahdc1 T C 4: 132,793,013 (GRCm39) L1418P possibly damaging Het
Bmp2 T A 2: 133,396,392 (GRCm39) V16D probably benign Het
Cables2 G A 2: 179,906,263 (GRCm39) R121* probably null Het
Calb2 A G 8: 110,883,620 (GRCm39) Y35H probably benign Het
Cdon A G 9: 35,400,328 (GRCm39) E1014G possibly damaging Het
Clcn7 T C 17: 25,369,567 (GRCm39) L301P possibly damaging Het
Corin T C 5: 72,488,198 (GRCm39) D610G probably damaging Het
Csrnp2 A T 15: 100,379,879 (GRCm39) S471T probably benign Het
Dnah7a C A 1: 53,483,675 (GRCm39) M3367I probably benign Het
Elp4 A T 2: 105,533,106 (GRCm39) M413K possibly damaging Het
Fat1 A G 8: 45,470,975 (GRCm39) D1593G probably benign Het
Fbxw24 G A 9: 109,437,110 (GRCm39) P259L possibly damaging Het
Ggta1 T A 2: 35,298,000 (GRCm39) T162S probably benign Het
Gldn G A 9: 54,245,624 (GRCm39) E392K possibly damaging Het
Klra9 T C 6: 130,168,260 (GRCm39) N2S probably benign Het
Lama1 A G 17: 68,075,328 (GRCm39) D1015G probably benign Het
Lct T C 1: 128,231,963 (GRCm39) M629V probably damaging Het
Myg1 G C 15: 102,246,171 (GRCm39) G349R probably damaging Het
Nrxn1 T C 17: 90,930,880 (GRCm39) D779G probably damaging Het
Or2d3c G A 7: 106,526,301 (GRCm39) R122* probably null Het
Or4a73 C A 2: 89,421,099 (GRCm39) R120L probably damaging Het
Or4c118 A T 2: 88,975,364 (GRCm39) M1K probably null Het
Or5d37 T A 2: 87,923,603 (GRCm39) I226F probably damaging Het
Osmr A C 15: 6,866,534 (GRCm39) V380G possibly damaging Het
Phf21b A G 15: 84,682,891 (GRCm39) I222T probably damaging Het
Ptprq G T 10: 107,544,489 (GRCm39) T347K probably benign Het
Sema6d G T 2: 124,496,146 (GRCm39) L63F possibly damaging Het
Serpinb9b C T 13: 33,213,581 (GRCm39) A46V probably damaging Het
Sf3b3 A G 8: 111,540,253 (GRCm39) probably null Het
Smpd1 T A 7: 105,204,609 (GRCm39) C163S probably damaging Het
Stat4 C T 1: 52,052,981 (GRCm39) T54I possibly damaging Het
Tacc2 A G 7: 130,226,800 (GRCm39) S1162G probably benign Het
Tbc1d20 C T 2: 152,153,737 (GRCm39) T354I probably benign Het
Tbc1d31 T C 15: 57,815,210 (GRCm39) probably null Het
Tmcc1 C CAT 6: 116,019,831 (GRCm39) probably null Het
Tmem181a T A 17: 6,346,061 (GRCm39) L185H probably damaging Het
Unc79 T A 12: 103,041,062 (GRCm39) N698K probably benign Het
Utrn A G 10: 12,542,579 (GRCm39) M1802T probably benign Het
Vmn1r8 A C 6: 57,013,260 (GRCm39) T104P probably damaging Het
Vmn2r13 C A 5: 109,304,721 (GRCm39) R570I probably damaging Het
Zfand6 G A 7: 84,283,570 (GRCm39) P11S probably damaging Het
Zfp1005 A G 2: 150,109,976 (GRCm39) K222R probably benign Het
Zmpste24 A G 4: 120,918,288 (GRCm39) F445L probably damaging Het
Other mutations in Acad11
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00966:Acad11 APN 9 104,003,855 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- TGAGTTCGACCCTGTAATGTCC -3'
(R):5'- CTGGATAATGTGTGTCTTCAGC -3'

Sequencing Primer
(F):5'- TCGACCCTGTAATGTCCACAATATC -3'
(R):5'- CAGCTATGTTTCTGGCTGATGTC -3'
Posted On 2015-02-19