Incidental Mutation 'IGL02742:Acad11'
| ID |
305954 |
| 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: 0.082)
|
| Stock # |
IGL02742
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
103940923-104004855 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 103972824 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 506
(T506A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000043424
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047799]
[ENSMUST00000076147]
[ENSMUST00000120854]
[ENSMUST00000188000]
[ENSMUST00000189998]
[ENSMUST00000219146]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000047799
AA Change: T506A
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000043424
Gene: ENSMUSG00000090150
AA Change: T506A
| 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 |
noncoding transcript
Transcript: ENSMUST00000050139
|
| SMART Domains |
Protein: ENSMUSP00000062941
Gene: ENSMUSG00000041748
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
28 |
50 |
N/A |
INTRINSIC |
|
| 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: T388A
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000112994
Gene: ENSMUSG00000090150
AA Change: T388A
| 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 |
probably benign
Transcript: ENSMUST00000188000
|
| SMART Domains |
Protein: ENSMUSP00000140792
Gene: ENSMUSG00000079355
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
10 |
20 |
N/A |
INTRINSIC |
|
Pfam:7tm_1
|
58 |
303 |
5.6e-55 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000189998
AA Change: T506A
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219146
|
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankib1 |
A |
C |
5: 3,743,479 (GRCm39) |
D845E |
probably benign |
Het |
| Atxn2 |
T |
C |
5: 121,919,399 (GRCm39) |
V369A |
possibly damaging |
Het |
| Ccdc50 |
T |
A |
16: 27,225,534 (GRCm39) |
|
probably benign |
Het |
| Clec2g |
A |
G |
6: 128,957,224 (GRCm39) |
I61V |
possibly damaging |
Het |
| Col16a1 |
G |
A |
4: 129,955,172 (GRCm39) |
|
probably benign |
Het |
| Dapk2 |
A |
G |
9: 66,139,096 (GRCm39) |
Y139C |
probably damaging |
Het |
| Ecpas |
A |
G |
4: 58,840,757 (GRCm39) |
V667A |
probably damaging |
Het |
| Fnip1 |
T |
C |
11: 54,384,177 (GRCm39) |
L334P |
probably damaging |
Het |
| Igf1r |
A |
G |
7: 67,839,739 (GRCm39) |
E682G |
possibly damaging |
Het |
| Ints8 |
T |
C |
4: 11,241,627 (GRCm39) |
E272G |
possibly damaging |
Het |
| Jph2 |
G |
A |
2: 163,217,699 (GRCm39) |
P326S |
probably damaging |
Het |
| Krtap1-4 |
T |
C |
11: 99,473,940 (GRCm39) |
|
probably benign |
Het |
| Lrp5 |
A |
G |
19: 3,654,022 (GRCm39) |
I1135T |
probably damaging |
Het |
| Lrrk1 |
A |
G |
7: 65,958,439 (GRCm39) |
V320A |
probably benign |
Het |
| Myh6 |
A |
C |
14: 55,191,381 (GRCm39) |
I820S |
possibly damaging |
Het |
| Napg |
A |
T |
18: 63,119,319 (GRCm39) |
T110S |
probably damaging |
Het |
| Nova1 |
G |
A |
12: 46,767,475 (GRCm39) |
Q56* |
probably null |
Het |
| Phyhip |
A |
G |
14: 70,699,367 (GRCm39) |
|
probably null |
Het |
| Pkd2l2 |
C |
A |
18: 34,549,970 (GRCm39) |
S205* |
probably null |
Het |
| Ppp2r1a |
G |
T |
17: 21,179,265 (GRCm39) |
C101F |
probably benign |
Het |
| Serpinb3c |
G |
A |
1: 107,200,872 (GRCm39) |
R182* |
probably null |
Het |
| St18 |
A |
C |
1: 6,872,540 (GRCm39) |
|
probably benign |
Het |
| St6galnac4 |
C |
T |
2: 32,487,096 (GRCm39) |
R264C |
possibly damaging |
Het |
| Tmem168 |
T |
C |
6: 13,603,261 (GRCm39) |
Y35C |
probably benign |
Het |
| Tmem219 |
A |
G |
7: 126,496,220 (GRCm39) |
L74P |
probably damaging |
Het |
| Trpc4 |
T |
A |
3: 54,206,667 (GRCm39) |
N622K |
probably damaging |
Het |
| Trpm6 |
A |
C |
19: 18,807,376 (GRCm39) |
|
probably benign |
Het |
| Ttl |
C |
A |
2: 128,908,213 (GRCm39) |
F49L |
possibly damaging |
Het |
| Tut7 |
C |
T |
13: 59,964,156 (GRCm39) |
D250N |
probably damaging |
Het |
| Vmn1r123 |
A |
T |
7: 20,896,968 (GRCm39) |
I287F |
possibly damaging |
Het |
| Vmn2r97 |
T |
G |
17: 19,149,432 (GRCm39) |
I273M |
probably damaging |
Het |
| Wdr5 |
C |
A |
2: 27,410,437 (GRCm39) |
|
probably benign |
Het |
| Zfp37 |
C |
A |
4: 62,110,548 (GRCm39) |
C172F |
possibly 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 |
|
|
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 |
2015-04-16 |
Incidental Mutation