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)
|
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |