Incidental Mutation 'R0411:Acad11'
| ID |
36676 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Acad11
|
| Ensembl Gene |
ENSMUSG00000090150 |
| Gene Name |
acyl-Coenzyme A dehydrogenase family, member 11 |
| Synonyms |
5730439E10Rik |
| MMRRC Submission |
038613-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.082)
|
| Stock # |
R0411 (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 103993495 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 541
(F541L)
|
| 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: F659L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000043424
Gene: ENSMUSG00000090150
AA Change: F659L
| 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: F541L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112994
Gene: ENSMUSG00000090150
AA Change: F541L
| 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
|
| Meta Mutation Damage Score |
0.7595 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 95.0%
|
| Validation Efficiency |
97% (66/68) |
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 0610040J01Rik |
A |
G |
5: 64,053,834 (GRCm39) |
|
probably benign |
Het |
| 6030469F06Rik |
A |
T |
12: 31,234,730 (GRCm39) |
|
noncoding transcript |
Het |
| Acin1 |
G |
T |
14: 54,884,231 (GRCm39) |
R92S |
probably damaging |
Het |
| Appl1 |
A |
G |
14: 26,662,213 (GRCm39) |
S490P |
probably benign |
Het |
| Aqp9 |
C |
A |
9: 71,037,726 (GRCm39) |
V184L |
probably benign |
Het |
| Arih1 |
A |
T |
9: 59,393,266 (GRCm39) |
I122N |
possibly damaging |
Het |
| Bmi1 |
T |
C |
2: 18,687,983 (GRCm39) |
|
probably benign |
Het |
| Bmpr1a |
G |
A |
14: 34,137,834 (GRCm39) |
T391I |
possibly damaging |
Het |
| Cacna1s |
A |
G |
1: 136,041,041 (GRCm39) |
K1256E |
probably damaging |
Het |
| Cacng3 |
C |
T |
7: 122,367,795 (GRCm39) |
P225L |
probably damaging |
Het |
| Cd101 |
A |
T |
3: 100,925,843 (GRCm39) |
|
probably null |
Het |
| Cd55 |
A |
G |
1: 130,390,294 (GRCm39) |
|
probably benign |
Het |
| Cenpe |
T |
C |
3: 134,928,016 (GRCm39) |
I258T |
probably damaging |
Het |
| Cfap251 |
C |
T |
5: 123,428,117 (GRCm39) |
T538M |
probably damaging |
Het |
| Cma2 |
A |
G |
14: 56,211,135 (GRCm39) |
|
probably benign |
Het |
| Ddost |
T |
A |
4: 138,036,964 (GRCm39) |
S176T |
probably benign |
Het |
| Ddx19b |
A |
T |
8: 111,750,596 (GRCm39) |
|
probably null |
Het |
| Dmxl2 |
A |
G |
9: 54,286,223 (GRCm39) |
I2681T |
probably damaging |
Het |
| Ern1 |
C |
T |
11: 106,289,412 (GRCm39) |
E964K |
probably benign |
Het |
| Exoc1l |
G |
T |
5: 76,648,334 (GRCm39) |
V47L |
possibly damaging |
Het |
| Galntl5 |
C |
T |
5: 25,425,172 (GRCm39) |
R430C |
probably benign |
Het |
| Gga3 |
A |
G |
11: 115,478,259 (GRCm39) |
L511P |
probably damaging |
Het |
| Gria2 |
C |
T |
3: 80,618,165 (GRCm39) |
|
probably benign |
Het |
| Hmbs |
A |
T |
9: 44,252,949 (GRCm39) |
L28* |
probably null |
Het |
| Iffo2 |
A |
G |
4: 139,330,532 (GRCm39) |
E220G |
probably damaging |
Het |
| Ifi30 |
A |
G |
8: 71,217,562 (GRCm39) |
|
probably benign |
Het |
| Irf2 |
T |
A |
8: 47,299,096 (GRCm39) |
C297S |
probably benign |
Het |
| Izumo4 |
T |
C |
10: 80,538,918 (GRCm39) |
Y94H |
probably damaging |
Het |
| Klhdc9 |
A |
G |
1: 171,187,353 (GRCm39) |
V215A |
probably benign |
Het |
| Kmt2a |
T |
C |
9: 44,731,261 (GRCm39) |
|
probably benign |
Het |
| Kmt2c |
A |
T |
5: 25,580,955 (GRCm39) |
C513S |
probably damaging |
Het |
| Lyg1 |
A |
T |
1: 37,988,977 (GRCm39) |
M81K |
possibly damaging |
Het |
| Maip1 |
T |
G |
1: 57,454,852 (GRCm39) |
W279G |
probably damaging |
Het |
| Myo7a |
T |
C |
7: 97,721,144 (GRCm39) |
T1263A |
probably benign |
Het |
| Naa15 |
T |
A |
3: 51,373,060 (GRCm39) |
I701N |
possibly damaging |
Het |
| Ncoa3 |
A |
G |
2: 165,910,463 (GRCm39) |
N1292S |
probably benign |
Het |
| Necab2 |
T |
A |
8: 120,180,979 (GRCm39) |
|
probably benign |
Het |
| Nfatc1 |
T |
A |
18: 80,741,257 (GRCm39) |
I234F |
possibly damaging |
Het |
| Olfm1 |
G |
A |
2: 28,098,223 (GRCm39) |
R95K |
possibly damaging |
Het |
| Or10ag56 |
A |
G |
2: 87,139,402 (GRCm39) |
T90A |
probably benign |
Het |
| Or10ak8 |
A |
T |
4: 118,773,823 (GRCm39) |
N280K |
possibly damaging |
Het |
| Otoa |
T |
C |
7: 120,755,750 (GRCm39) |
|
probably null |
Het |
| Padi4 |
GCTGCGTACCTCCAC |
GC |
4: 140,475,760 (GRCm39) |
|
probably benign |
Het |
| Pard6g |
A |
G |
18: 80,160,337 (GRCm39) |
D150G |
probably damaging |
Het |
| Pax5 |
A |
G |
4: 44,609,783 (GRCm39) |
L215S |
probably damaging |
Het |
| Pja2 |
A |
T |
17: 64,594,516 (GRCm39) |
|
probably benign |
Het |
| Plk4 |
T |
A |
3: 40,765,654 (GRCm39) |
|
probably benign |
Het |
| Polr1a |
A |
T |
6: 71,955,405 (GRCm39) |
H1687L |
possibly damaging |
Het |
| Ptcd2 |
G |
A |
13: 99,479,899 (GRCm39) |
L41F |
probably damaging |
Het |
| Ropn1 |
T |
A |
16: 34,490,334 (GRCm39) |
S62T |
probably benign |
Het |
| Setd1a |
T |
C |
7: 127,395,223 (GRCm39) |
|
probably benign |
Het |
| Setdb1 |
T |
C |
3: 95,234,997 (GRCm39) |
D902G |
probably damaging |
Het |
| Sik3 |
T |
A |
9: 46,120,068 (GRCm39) |
L719Q |
probably damaging |
Het |
| Slc36a1 |
G |
T |
11: 55,123,333 (GRCm39) |
V433F |
probably benign |
Het |
| Slc6a3 |
T |
C |
13: 73,705,169 (GRCm39) |
V220A |
possibly damaging |
Het |
| Slc6a5 |
A |
T |
7: 49,561,539 (GRCm39) |
R24W |
probably damaging |
Het |
| Smox |
G |
T |
2: 131,362,564 (GRCm39) |
R281L |
probably benign |
Het |
| Sulf2 |
G |
T |
2: 165,935,436 (GRCm39) |
H226N |
probably damaging |
Het |
| Syne2 |
C |
T |
12: 76,106,358 (GRCm39) |
|
probably null |
Het |
| Tenm3 |
C |
T |
8: 48,740,826 (GRCm39) |
S1210N |
possibly damaging |
Het |
| Tns1 |
A |
T |
1: 73,964,920 (GRCm39) |
V1237E |
probably damaging |
Het |
| Trf |
C |
T |
9: 103,094,700 (GRCm39) |
V92M |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,539,717 (GRCm39) |
V34423A |
possibly damaging |
Het |
| Vmn2r118 |
A |
G |
17: 55,918,021 (GRCm39) |
|
probably benign |
Het |
| Vmn2r19 |
A |
G |
6: 123,286,703 (GRCm39) |
Y112C |
probably damaging |
Het |
| Zfp326 |
G |
T |
5: 106,026,641 (GRCm39) |
A15S |
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 |
|
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GACTCTTTCCACACCAGAAGGCAG -3'
(R):5'- AATGCAGTTTCTCACCCAGGATACG -3'
Sequencing Primer
(F):5'- CACACCAGAAGGCAGTTTGTATTG -3'
(R):5'- ACCCAGGATACGGCCAC -3'
|
| Posted On |
2013-05-09 |
Incidental Mutation