Incidental Mutation 'R3956:Acad11'
| ID |
310706 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Acad11
|
| Ensembl Gene |
ENSMUSG00000090150 |
| Gene Name |
acyl-Coenzyme A dehydrogenase family, member 11 |
| Synonyms |
5730439E10Rik |
| MMRRC Submission |
040833-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.082)
|
| Stock # |
R3956 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
103940923-104004855 bp(+) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
A to G
at 103963351 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141064
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047799]
[ENSMUST00000120854]
[ENSMUST00000189998]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000047799
|
| SMART Domains |
Protein: ENSMUSP00000043424
Gene: ENSMUSG00000090150
| 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: ENSMUST00000120854
|
| SMART Domains |
Protein: ENSMUSP00000112994
Gene: ENSMUSG00000090150
| 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: ENSMUST00000189998
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.5%
|
| Validation Efficiency |
100% (56/56) |
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9330159F19Rik |
A |
G |
10: 29,100,805 (GRCm39) |
K393E |
possibly damaging |
Het |
| Aagab |
A |
G |
9: 63,526,442 (GRCm39) |
E155G |
probably damaging |
Het |
| Abca16 |
A |
G |
7: 120,126,975 (GRCm39) |
N1221S |
probably damaging |
Het |
| Acsl1 |
T |
A |
8: 46,987,495 (GRCm39) |
L693Q |
probably damaging |
Het |
| Adam2 |
G |
A |
14: 66,295,059 (GRCm39) |
S262L |
probably damaging |
Het |
| B3gat1 |
A |
G |
9: 26,668,324 (GRCm39) |
T305A |
possibly damaging |
Het |
| BC051076 |
A |
G |
5: 88,112,110 (GRCm39) |
|
noncoding transcript |
Het |
| Ccni |
A |
G |
5: 93,331,263 (GRCm39) |
L236S |
probably damaging |
Het |
| Ccnq |
C |
A |
11: 78,641,849 (GRCm39) |
E214* |
probably null |
Het |
| Cdc45 |
A |
G |
16: 18,624,180 (GRCm39) |
V119A |
probably benign |
Het |
| Clspn |
ACGGCGGCGGC |
A |
4: 126,460,230 (GRCm39) |
|
probably null |
Het |
| Creld1 |
A |
G |
6: 113,469,190 (GRCm39) |
D340G |
possibly damaging |
Het |
| Cyrib |
T |
C |
15: 63,813,823 (GRCm39) |
Y158C |
probably damaging |
Het |
| Dipk1b |
C |
T |
2: 26,525,579 (GRCm39) |
P171L |
probably benign |
Het |
| Dnah2 |
T |
A |
11: 69,374,847 (GRCm39) |
I1417L |
probably benign |
Het |
| Efhc1 |
A |
C |
1: 21,048,890 (GRCm39) |
K434N |
probably damaging |
Het |
| Evi5l |
T |
C |
8: 4,241,358 (GRCm39) |
V297A |
possibly damaging |
Het |
| Fkbp8 |
T |
G |
8: 70,987,517 (GRCm39) |
S376A |
probably damaging |
Het |
| Gfod1 |
A |
T |
13: 43,354,538 (GRCm39) |
C146S |
probably damaging |
Het |
| Greb1 |
G |
T |
12: 16,732,300 (GRCm39) |
P1554T |
probably damaging |
Het |
| Grip1 |
A |
T |
10: 119,765,931 (GRCm39) |
I88F |
probably damaging |
Het |
| Hbq1a |
T |
C |
11: 32,250,214 (GRCm39) |
|
probably null |
Het |
| Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
| Kmt2e |
A |
G |
5: 23,701,023 (GRCm39) |
T121A |
probably benign |
Het |
| Lmf1 |
G |
A |
17: 25,873,445 (GRCm39) |
V317M |
probably damaging |
Het |
| Mfsd2b |
A |
T |
12: 4,916,848 (GRCm39) |
F194Y |
probably damaging |
Het |
| Mtmr3 |
A |
T |
11: 4,441,138 (GRCm39) |
V504E |
probably damaging |
Het |
| Neb |
C |
T |
2: 52,091,975 (GRCm39) |
V5030M |
possibly damaging |
Het |
| Nup210l |
A |
T |
3: 90,100,361 (GRCm39) |
R1462S |
possibly damaging |
Het |
| Or5ac17 |
G |
A |
16: 59,036,428 (GRCm39) |
Q183* |
probably null |
Het |
| Or5al1 |
A |
G |
2: 85,990,282 (GRCm39) |
V144A |
probably benign |
Het |
| Or5al5 |
C |
T |
2: 85,961,363 (GRCm39) |
V215I |
probably benign |
Het |
| Pmfbp1 |
A |
G |
8: 110,256,801 (GRCm39) |
S502G |
probably benign |
Het |
| Prb1c |
G |
T |
6: 132,338,814 (GRCm39) |
Q135K |
unknown |
Het |
| Ptgir |
A |
G |
7: 16,640,794 (GRCm39) |
M29V |
possibly damaging |
Het |
| Qng1 |
A |
G |
13: 58,532,203 (GRCm39) |
S118P |
probably damaging |
Het |
| Ralgapa2 |
C |
T |
2: 146,277,884 (GRCm39) |
V426I |
probably damaging |
Het |
| Rasgrf2 |
A |
G |
13: 92,130,974 (GRCm39) |
S696P |
probably damaging |
Het |
| Riok3 |
T |
A |
18: 12,276,031 (GRCm39) |
Y242* |
probably null |
Het |
| Robo2 |
T |
G |
16: 73,758,755 (GRCm39) |
Y672S |
probably damaging |
Het |
| Rsbn1 |
A |
G |
3: 103,835,991 (GRCm39) |
H343R |
probably damaging |
Het |
| Sar1a |
A |
T |
10: 61,522,172 (GRCm39) |
N88I |
possibly damaging |
Het |
| Sgcz |
A |
G |
8: 37,993,346 (GRCm39) |
|
probably benign |
Het |
| Spmip9 |
A |
G |
6: 70,890,469 (GRCm39) |
Y108H |
possibly damaging |
Het |
| Tbc1d9 |
C |
T |
8: 83,960,161 (GRCm39) |
T138I |
probably damaging |
Het |
| Tlcd5 |
C |
A |
9: 43,022,808 (GRCm39) |
C182F |
probably damaging |
Het |
| Tmem131l |
C |
A |
3: 83,817,726 (GRCm39) |
C1257F |
probably damaging |
Het |
| Top6bl |
T |
A |
19: 4,742,525 (GRCm39) |
T214S |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,799,593 (GRCm39) |
V429A |
possibly damaging |
Het |
| Umodl1 |
A |
G |
17: 31,221,837 (GRCm39) |
T1280A |
probably benign |
Het |
| Xpnpep3 |
A |
G |
15: 81,335,230 (GRCm39) |
|
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 |
|
|
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'- TGCACACTTAGTCAGAGCCTG -3'
(R):5'- TGGGGATGAACTGTTCTGATCATC -3'
Sequencing Primer
(F):5'- TTAGTCAGAGCCTGCCCAC -3'
(R):5'- GGATGAACTGTTCTGATCATCTACAG -3'
|
| Posted On |
2015-04-29 |
Incidental Mutation