Incidental Mutation 'R5161:Acad11'
| ID |
397003 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Acad11
|
| Ensembl Gene |
ENSMUSG00000090150 |
| Gene Name |
acyl-Coenzyme A dehydrogenase family, member 11 |
| Synonyms |
5730439E10Rik |
| MMRRC Submission |
042743-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.106)
|
| Stock # |
R5161 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
103940923-104004855 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 104001227 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 591
(I591T)
|
| 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 benign
Transcript: ENSMUST00000047799
AA Change: I709T
PolyPhen 2
Score 0.143 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000043424
Gene: ENSMUSG00000090150
AA Change: I709T
| 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 benign
Transcript: ENSMUST00000120854
AA Change: I591T
PolyPhen 2
Score 0.191 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000112994
Gene: ENSMUSG00000090150
AA Change: I591T
| 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: ENSMUST00000128714
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216220
|
| Meta Mutation Damage Score |
0.1390 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
| Validation Efficiency |
98% (56/57) |
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 0610040J01Rik |
G |
T |
5: 64,055,344 (GRCm39) |
E27* |
probably null |
Het |
| 4930407I10Rik |
G |
T |
15: 81,947,542 (GRCm39) |
E480* |
probably null |
Het |
| Acsbg3 |
A |
T |
17: 57,189,888 (GRCm39) |
I305F |
possibly damaging |
Het |
| Adamts13 |
G |
A |
2: 26,883,020 (GRCm39) |
E857K |
probably benign |
Het |
| Atf2 |
A |
C |
2: 73,660,134 (GRCm39) |
|
probably null |
Het |
| Cass4 |
C |
A |
2: 172,274,244 (GRCm39) |
A675E |
probably damaging |
Het |
| Coa8 |
C |
A |
12: 111,689,208 (GRCm39) |
Q97K |
possibly damaging |
Het |
| Ctsd |
A |
T |
7: 141,930,881 (GRCm39) |
L283Q |
probably damaging |
Het |
| Ddrgk1 |
A |
T |
2: 130,505,296 (GRCm39) |
M1K |
probably null |
Het |
| Dipk1b |
C |
T |
2: 26,526,260 (GRCm39) |
T398M |
possibly damaging |
Het |
| Dock1 |
G |
A |
7: 134,335,791 (GRCm39) |
A62T |
possibly damaging |
Het |
| Ehmt1 |
T |
C |
2: 24,748,207 (GRCm39) |
D407G |
possibly damaging |
Het |
| Eif1ad17 |
T |
A |
12: 87,978,887 (GRCm39) |
D90E |
possibly damaging |
Het |
| Eml6 |
A |
G |
11: 29,974,467 (GRCm39) |
V37A |
probably damaging |
Het |
| Fam20a |
C |
T |
11: 109,564,196 (GRCm39) |
R519Q |
probably benign |
Het |
| Fat1 |
A |
G |
8: 45,405,549 (GRCm39) |
T767A |
probably benign |
Het |
| Fbxl8 |
A |
T |
8: 105,995,538 (GRCm39) |
H350L |
possibly damaging |
Het |
| Gm10226 |
A |
C |
17: 21,910,834 (GRCm39) |
Q23P |
possibly damaging |
Het |
| Gm38706 |
A |
T |
6: 130,459,868 (GRCm39) |
|
noncoding transcript |
Het |
| Gpatch2l |
G |
T |
12: 86,313,950 (GRCm39) |
R362L |
probably benign |
Het |
| Hyal5 |
A |
T |
6: 24,891,602 (GRCm39) |
D472V |
probably benign |
Het |
| Ighv5-9-1 |
T |
C |
12: 113,699,777 (GRCm39) |
S102G |
possibly damaging |
Het |
| Itpripl1 |
A |
C |
2: 126,983,777 (GRCm39) |
L115R |
probably damaging |
Het |
| Itsn1 |
G |
A |
16: 91,705,726 (GRCm39) |
C169Y |
possibly damaging |
Het |
| Krt88 |
T |
A |
15: 101,348,349 (GRCm39) |
C12S |
probably benign |
Het |
| Macroh2a1 |
T |
C |
13: 56,237,594 (GRCm39) |
D222G |
probably benign |
Het |
| Muc4 |
G |
A |
16: 32,582,895 (GRCm39) |
V2557M |
probably damaging |
Het |
| Myh7b |
G |
C |
2: 155,474,293 (GRCm39) |
R1669S |
possibly damaging |
Het |
| Nbeal2 |
G |
T |
9: 110,458,936 (GRCm39) |
Q1996K |
probably benign |
Het |
| Obscn |
T |
C |
11: 58,919,430 (GRCm39) |
E6205G |
probably damaging |
Het |
| Obscn |
A |
G |
11: 58,955,136 (GRCm39) |
Y3926H |
possibly damaging |
Het |
| Or14a259 |
T |
C |
7: 86,013,546 (GRCm39) |
|
probably null |
Het |
| Or5an10 |
A |
T |
19: 12,276,153 (GRCm39) |
S114R |
probably damaging |
Het |
| P2ry2 |
A |
T |
7: 100,648,136 (GRCm39) |
Y56* |
probably null |
Het |
| Pate10 |
T |
A |
9: 35,652,884 (GRCm39) |
L42* |
probably null |
Het |
| Pde1a |
T |
C |
2: 79,708,488 (GRCm39) |
N242S |
probably null |
Het |
| Pik3cg |
C |
T |
12: 32,254,977 (GRCm39) |
E337K |
possibly damaging |
Het |
| Plxna2 |
A |
G |
1: 194,433,712 (GRCm39) |
N587S |
probably benign |
Het |
| Pmpca |
T |
C |
2: 26,285,183 (GRCm39) |
|
probably null |
Het |
| Ptpn4 |
C |
T |
1: 119,635,593 (GRCm39) |
W370* |
probably null |
Het |
| Qki |
A |
T |
17: 10,434,419 (GRCm39) |
|
probably null |
Het |
| Rapgef3 |
A |
G |
15: 97,655,606 (GRCm39) |
V427A |
probably damaging |
Het |
| Rbbp8 |
T |
G |
18: 11,855,171 (GRCm39) |
D465E |
probably damaging |
Het |
| Scn2a |
A |
G |
2: 65,594,935 (GRCm39) |
K1928R |
probably benign |
Het |
| Slc5a5 |
A |
C |
8: 71,341,492 (GRCm39) |
C346G |
probably damaging |
Het |
| Spata2l |
A |
G |
8: 123,962,288 (GRCm39) |
L91P |
probably damaging |
Het |
| Syt3 |
C |
A |
7: 44,045,439 (GRCm39) |
H560N |
possibly damaging |
Het |
| Timm23 |
G |
A |
14: 31,915,882 (GRCm39) |
P63L |
probably damaging |
Het |
| Tmem191 |
T |
C |
16: 17,094,743 (GRCm39) |
S108P |
possibly damaging |
Het |
| Ttc21b |
A |
G |
2: 66,059,367 (GRCm39) |
C545R |
probably damaging |
Het |
| Ttc23l |
G |
T |
15: 10,551,636 (GRCm39) |
T30K |
possibly damaging |
Het |
| Usp17ld |
A |
T |
7: 102,899,579 (GRCm39) |
L451* |
probably null |
Het |
| Vmn1r15 |
T |
C |
6: 57,235,497 (GRCm39) |
Y122H |
probably benign |
Het |
| Vxn |
G |
T |
1: 9,692,902 (GRCm39) |
G145* |
probably null |
Het |
| Zfp1002 |
A |
T |
2: 150,097,135 (GRCm39) |
I98K |
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 |
|
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 |
|
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'- TTAGCCGAAGCCTTCTGTTGG -3'
(R):5'- TCACACCAGTTCTTCAAATGC -3'
Sequencing Primer
(F):5'- TGTTGGCCTCCACCACAGAC -3'
(R):5'- GTTCTTCAAATGCAAACTCCAGTC -3'
|
| Posted On |
2016-06-21 |
Incidental Mutation