Incidental Mutation 'R6512:Acad11'
| ID |
519953 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Acad11
|
| Ensembl Gene |
ENSMUSG00000090150 |
| Gene Name |
acyl-Coenzyme A dehydrogenase family, member 11 |
| Synonyms |
5730439E10Rik |
| MMRRC Submission |
045017-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.082)
|
| Stock # |
R6512 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
103940923-104004855 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to T
at 103972758 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Stop codon
at position 484
(E484*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141064
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047799]
[ENSMUST00000076147]
[ENSMUST00000120854]
[ENSMUST00000188000]
[ENSMUST00000189998]
[ENSMUST00000219146]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000047799
AA Change: E484*
|
| SMART Domains |
Protein: ENSMUSP00000043424
Gene: ENSMUSG00000090150
AA Change: E484*
| 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 null
Transcript: ENSMUST00000120854
AA Change: E366*
|
| SMART Domains |
Protein: ENSMUSP00000112994
Gene: ENSMUSG00000090150
AA Change: E366*
| 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 null
Transcript: ENSMUST00000189998
AA Change: E484*
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219146
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 93.9%
|
| Validation Efficiency |
100% (39/39) |
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700122O11Rik |
A |
G |
17: 48,347,672 (GRCm39) |
S211P |
possibly damaging |
Het |
| Abcb11 |
T |
C |
2: 69,112,996 (GRCm39) |
T674A |
probably benign |
Het |
| Ankhd1 |
A |
T |
18: 36,724,509 (GRCm39) |
D389V |
probably damaging |
Het |
| Asic4 |
T |
A |
1: 75,449,687 (GRCm39) |
L439* |
probably null |
Het |
| Atp13a2 |
A |
G |
4: 140,730,529 (GRCm39) |
T808A |
probably damaging |
Het |
| Capn13 |
C |
A |
17: 73,689,985 (GRCm39) |
V9L |
probably benign |
Het |
| Chst11 |
A |
G |
10: 83,027,302 (GRCm39) |
Y243C |
probably damaging |
Het |
| Ctdp1 |
A |
T |
18: 80,494,478 (GRCm39) |
W308R |
probably damaging |
Het |
| Dnttip2 |
A |
G |
3: 122,069,172 (GRCm39) |
E129G |
possibly damaging |
Het |
| Dock5 |
A |
G |
14: 68,062,097 (GRCm39) |
S424P |
possibly damaging |
Het |
| Ebf1 |
C |
T |
11: 44,883,168 (GRCm39) |
H469Y |
probably damaging |
Het |
| Efhc1 |
A |
T |
1: 21,030,573 (GRCm39) |
N169Y |
probably damaging |
Het |
| Elmo1 |
T |
C |
13: 20,557,331 (GRCm39) |
L424P |
probably damaging |
Het |
| Ighv1-59 |
A |
G |
12: 115,299,003 (GRCm39) |
V16A |
probably damaging |
Het |
| Kcnc1 |
T |
G |
7: 46,076,821 (GRCm39) |
C208G |
probably damaging |
Het |
| Kif13b |
A |
T |
14: 64,982,323 (GRCm39) |
|
probably null |
Het |
| Lilra6 |
T |
A |
7: 3,917,387 (GRCm39) |
N203Y |
probably benign |
Het |
| Mrtfa |
T |
C |
15: 80,897,917 (GRCm39) |
T787A |
probably benign |
Het |
| Myh8 |
A |
T |
11: 67,180,488 (GRCm39) |
K575* |
probably null |
Het |
| Nedd1 |
C |
T |
10: 92,527,737 (GRCm39) |
A486T |
probably benign |
Het |
| Or2aj5 |
A |
T |
16: 19,425,109 (GRCm39) |
L103H |
probably damaging |
Het |
| Phrf1 |
T |
C |
7: 140,840,309 (GRCm39) |
I1168T |
possibly damaging |
Het |
| Pla2g12a |
T |
A |
3: 129,682,606 (GRCm39) |
H59Q |
probably benign |
Het |
| Ralbp1 |
A |
G |
17: 66,168,270 (GRCm39) |
V345A |
probably damaging |
Het |
| Ryr3 |
C |
T |
2: 112,697,723 (GRCm39) |
V894M |
possibly damaging |
Het |
| Sec24b |
T |
A |
3: 129,834,946 (GRCm39) |
Y84F |
probably damaging |
Het |
| Slc22a26 |
T |
C |
19: 7,779,865 (GRCm39) |
|
probably benign |
Het |
| Smc1b |
C |
T |
15: 84,976,232 (GRCm39) |
R825Q |
probably benign |
Het |
| Spats1 |
C |
T |
17: 45,763,599 (GRCm39) |
|
probably null |
Het |
| Tbk1 |
T |
A |
10: 121,414,526 (GRCm39) |
N63Y |
probably damaging |
Het |
| Tbl1xr1 |
C |
T |
3: 22,194,698 (GRCm39) |
|
probably benign |
Het |
| Top2b |
T |
A |
14: 16,409,854 (GRCm38) |
D840E |
possibly damaging |
Het |
| Trpc3 |
T |
A |
3: 36,716,907 (GRCm39) |
Y377F |
possibly damaging |
Het |
| Uba6 |
C |
T |
5: 86,272,262 (GRCm39) |
R778K |
probably benign |
Het |
| Vmn2r101 |
A |
T |
17: 19,809,146 (GRCm39) |
I92F |
probably damaging |
Het |
| Vmn2r106 |
C |
T |
17: 20,488,725 (GRCm39) |
C558Y |
probably damaging |
Het |
| Vmn2r70 |
G |
T |
7: 85,215,305 (GRCm39) |
F76L |
probably benign |
Het |
| Vwa3b |
A |
G |
1: 37,102,723 (GRCm39) |
|
probably benign |
Het |
| Zfp407 |
T |
A |
18: 84,578,474 (GRCm39) |
T880S |
probably damaging |
Het |
| Zfp64 |
C |
A |
2: 168,735,997 (GRCm39) |
G560V |
probably benign |
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 |
|
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 |
|
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'- AATGCCACGTAGTACAGCATC -3'
(R):5'- AAACACAATTTCTGGCTGTAGGC -3'
Sequencing Primer
(F):5'- CGTAGTACAGCATCACCATTAAATG -3'
(R):5'- AGGCAAAGTTGGCTACAG -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation