Incidental Mutation 'R5048:Acadsb'
| ID |
394466 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Acadsb
|
| Ensembl Gene |
ENSMUSG00000030861 |
| Gene Name |
acyl-Coenzyme A dehydrogenase, short/branched chain |
| Synonyms |
1300003O09Rik |
| MMRRC Submission |
042638-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5048 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
131012330-131047940 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 131039198 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Aspartic acid
at position 323
(G323D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113948
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000015829]
[ENSMUST00000117518]
[ENSMUST00000124096]
|
| AlphaFold |
Q9DBL1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000015829
AA Change: G323D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000015829
Gene: ENSMUSG00000030861
AA Change: G323D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Acyl-CoA_dh_N
|
58 |
170 |
9.9e-30 |
PFAM |
|
Pfam:Acyl-CoA_dh_M
|
173 |
268 |
6.9e-29 |
PFAM |
|
Pfam:Acyl-CoA_dh_1
|
280 |
428 |
6.5e-51 |
PFAM |
|
Pfam:Acyl-CoA_dh_2
|
295 |
418 |
4.4e-26 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000117518
AA Change: G323D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000113948
Gene: ENSMUSG00000030861
AA Change: G323D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Acyl-CoA_dh_N
|
58 |
170 |
2.9e-29 |
PFAM |
|
Pfam:Acyl-CoA_dh_M
|
173 |
268 |
1.2e-28 |
PFAM |
|
Pfam:Acyl-CoA_dh_1
|
280 |
414 |
1.4e-41 |
PFAM |
|
Pfam:Acyl-CoA_dh_2
|
295 |
415 |
2.6e-24 |
PFAM |
|
transmembrane domain
|
417 |
439 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000124096
|
| SMART Domains |
Protein: ENSMUSP00000130971
Gene: ENSMUSG00000030849
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase
|
1 |
118 |
4.8e-19 |
PFAM |
|
Pfam:Pkinase_Tyr
|
1 |
118 |
1.7e-50 |
PFAM |
|
low complexity region
|
146 |
160 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136612
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156261
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208795
|
| Meta Mutation Damage Score |
0.7596 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.2%
- 20x: 92.1%
|
| Validation Efficiency |
98% (64/65) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Short/branched chain acyl-CoA dehydrogenase(ACADSB) is a member of the acyl-CoA dehydrogenase family of enzymes that catalyze the dehydrogenation of acyl-CoA derivatives in the metabolism of fatty acids or branch chained amino acids. Substrate specificity is the primary characteristic used to define members of this gene family. The ACADSB gene product has the greatest activity towards the short branched chain acyl-CoA derivative, (S)-2-methylbutyryl-CoA, but also reacts significantly with other 2-methyl branched chain substrates and with short straight chain acyl-CoAs. The cDNA encodes for a mitochondrial precursor protein which is cleaved upon mitochondrial import and predicted to yield a mature peptide of approximately 43.7-KDa. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb11 |
T |
C |
2: 69,138,850 (GRCm39) |
I144V |
probably benign |
Het |
| Abhd5 |
T |
C |
9: 122,206,968 (GRCm39) |
Y85H |
probably damaging |
Het |
| Amotl2 |
A |
G |
9: 102,600,997 (GRCm39) |
R322G |
probably benign |
Het |
| Aox1 |
A |
T |
1: 58,098,641 (GRCm39) |
|
probably benign |
Het |
| Aste1 |
C |
T |
9: 105,274,188 (GRCm39) |
R82W |
probably damaging |
Het |
| Atg4b |
T |
C |
1: 93,703,380 (GRCm39) |
I139T |
possibly damaging |
Het |
| Btnl5-ps |
T |
A |
17: 34,707,697 (GRCm39) |
|
noncoding transcript |
Het |
| Ccdc85c |
A |
G |
12: 108,187,966 (GRCm39) |
|
probably null |
Het |
| Clasp1 |
A |
G |
1: 118,475,340 (GRCm39) |
|
probably benign |
Het |
| Defb10 |
G |
A |
8: 22,351,887 (GRCm39) |
C44Y |
probably damaging |
Het |
| Dhrs9 |
T |
C |
2: 69,224,744 (GRCm39) |
V144A |
probably damaging |
Het |
| Dnhd1 |
G |
C |
7: 105,342,904 (GRCm39) |
S1416T |
probably benign |
Het |
| Dok1 |
T |
A |
6: 83,009,087 (GRCm39) |
|
probably benign |
Het |
| Emilin2 |
G |
A |
17: 71,580,962 (GRCm39) |
T588M |
probably damaging |
Het |
| Fam181b |
A |
G |
7: 92,729,147 (GRCm39) |
|
probably benign |
Het |
| Fhad1 |
T |
C |
4: 141,691,987 (GRCm39) |
|
probably null |
Het |
| Foxi2 |
A |
G |
7: 135,013,364 (GRCm39) |
E198G |
probably damaging |
Het |
| Fsip2 |
C |
A |
2: 82,823,494 (GRCm39) |
A6409E |
probably damaging |
Het |
| Gje1 |
T |
C |
10: 14,593,021 (GRCm39) |
Y65C |
probably damaging |
Het |
| Gm6401 |
T |
C |
14: 41,789,724 (GRCm39) |
|
probably null |
Het |
| Gprc5c |
T |
C |
11: 114,761,177 (GRCm39) |
*442Q |
probably null |
Het |
| Iars1 |
T |
A |
13: 49,841,713 (GRCm39) |
I67N |
probably damaging |
Het |
| Igkv4-79 |
T |
C |
6: 69,019,971 (GRCm39) |
S115G |
probably benign |
Het |
| Itga4 |
C |
A |
2: 79,103,378 (GRCm39) |
S156R |
probably benign |
Het |
| Lilra6 |
C |
T |
7: 3,918,440 (GRCm39) |
|
probably null |
Het |
| Majin |
C |
A |
19: 6,272,684 (GRCm39) |
A208E |
probably benign |
Het |
| Megf8 |
A |
G |
7: 25,030,517 (GRCm39) |
Q490R |
possibly damaging |
Het |
| Mfng |
C |
T |
15: 78,648,588 (GRCm39) |
R163H |
probably benign |
Het |
| Mgarp |
G |
A |
3: 51,298,707 (GRCm39) |
R88C |
probably damaging |
Het |
| Msh2 |
T |
C |
17: 87,980,196 (GRCm39) |
F58S |
probably damaging |
Het |
| Nemp1 |
T |
C |
10: 127,526,804 (GRCm39) |
|
probably null |
Het |
| Nlrp10 |
A |
T |
7: 108,523,772 (GRCm39) |
N569K |
probably benign |
Het |
| Nxpe2 |
T |
C |
9: 48,237,388 (GRCm39) |
|
probably null |
Het |
| Or4c106 |
T |
C |
2: 88,682,807 (GRCm39) |
V171A |
possibly damaging |
Het |
| Or5w16 |
C |
A |
2: 87,576,663 (GRCm39) |
A41E |
probably benign |
Het |
| Pdcd11 |
C |
A |
19: 47,095,554 (GRCm39) |
S625R |
probably benign |
Het |
| Pigb |
T |
A |
9: 72,936,990 (GRCm39) |
|
probably null |
Het |
| Pitpnb |
T |
C |
5: 111,530,869 (GRCm39) |
F221L |
possibly damaging |
Het |
| Prox2 |
A |
T |
12: 85,141,115 (GRCm39) |
W363R |
probably damaging |
Het |
| Psmg1 |
T |
A |
16: 95,785,171 (GRCm39) |
R139S |
probably benign |
Het |
| Rab11fip3 |
A |
G |
17: 26,286,554 (GRCm39) |
|
probably null |
Het |
| Samd9l |
G |
A |
6: 3,374,157 (GRCm39) |
R1035C |
probably benign |
Het |
| Shkbp1 |
G |
A |
7: 27,051,521 (GRCm39) |
|
probably benign |
Het |
| Slc30a5 |
C |
A |
13: 100,943,249 (GRCm39) |
L536F |
probably damaging |
Het |
| Slc6a17 |
A |
T |
3: 107,378,753 (GRCm39) |
L643* |
probably null |
Het |
| Slit3 |
T |
C |
11: 35,479,812 (GRCm39) |
Y330H |
probably damaging |
Het |
| St13 |
G |
C |
15: 81,283,786 (GRCm39) |
R4G |
probably benign |
Het |
| Stoml3 |
A |
C |
3: 53,408,213 (GRCm39) |
K86N |
possibly damaging |
Het |
| Tmtc1 |
A |
T |
6: 148,139,344 (GRCm39) |
L926Q |
possibly damaging |
Het |
| Tns4 |
T |
G |
11: 98,969,605 (GRCm39) |
R285S |
possibly damaging |
Het |
| Uncx |
C |
T |
5: 139,532,874 (GRCm39) |
T313M |
probably benign |
Het |
| Vmn2r75 |
G |
A |
7: 85,814,735 (GRCm39) |
R253C |
possibly damaging |
Het |
| Zbed6 |
T |
C |
1: 133,586,462 (GRCm39) |
S292G |
probably damaging |
Het |
| Zfp143 |
A |
G |
7: 109,673,325 (GRCm39) |
T142A |
probably damaging |
Het |
| Zfp287 |
T |
C |
11: 62,605,777 (GRCm39) |
K366E |
probably damaging |
Het |
|
| Other mutations in Acadsb |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00581:Acadsb
|
APN |
7 |
131,039,225 (GRCm39) |
intron |
probably benign |
|
|
IGL02002:Acadsb
|
APN |
7 |
131,030,258 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02147:Acadsb
|
APN |
7 |
131,027,610 (GRCm39) |
splice site |
probably benign |
|
|
IGL02614:Acadsb
|
APN |
7 |
131,026,357 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03038:Acadsb
|
APN |
7 |
131,030,185 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03083:Acadsb
|
APN |
7 |
131,042,922 (GRCm39) |
intron |
probably benign |
|
|
R0491:Acadsb
|
UTSW |
7 |
131,031,836 (GRCm39) |
missense |
probably benign |
0.41 |
|
R0562:Acadsb
|
UTSW |
7 |
131,027,518 (GRCm39) |
nonsense |
probably null |
|
|
R0989:Acadsb
|
UTSW |
7 |
131,030,273 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1701:Acadsb
|
UTSW |
7 |
131,026,213 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1827:Acadsb
|
UTSW |
7 |
131,043,004 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1860:Acadsb
|
UTSW |
7 |
131,045,958 (GRCm39) |
splice site |
probably null |
|
|
R2256:Acadsb
|
UTSW |
7 |
131,045,382 (GRCm39) |
missense |
probably benign |
0.23 |
|
R3798:Acadsb
|
UTSW |
7 |
131,033,694 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4519:Acadsb
|
UTSW |
7 |
131,031,733 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5020:Acadsb
|
UTSW |
7 |
131,042,929 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R5243:Acadsb
|
UTSW |
7 |
131,045,972 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5519:Acadsb
|
UTSW |
7 |
131,031,694 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5788:Acadsb
|
UTSW |
7 |
131,045,328 (GRCm39) |
missense |
probably benign |
0.23 |
|
R5855:Acadsb
|
UTSW |
7 |
131,026,328 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6399:Acadsb
|
UTSW |
7 |
131,031,784 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6896:Acadsb
|
UTSW |
7 |
131,045,375 (GRCm39) |
missense |
probably benign |
0.23 |
|
R6970:Acadsb
|
UTSW |
7 |
131,036,044 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R7031:Acadsb
|
UTSW |
7 |
131,045,366 (GRCm39) |
missense |
probably benign |
0.23 |
|
R7126:Acadsb
|
UTSW |
7 |
131,039,177 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7138:Acadsb
|
UTSW |
7 |
131,042,968 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7571:Acadsb
|
UTSW |
7 |
131,045,283 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7697:Acadsb
|
UTSW |
7 |
131,031,698 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8271:Acadsb
|
UTSW |
7 |
131,045,423 (GRCm39) |
missense |
unknown |
|
|
R9089:Acadsb
|
UTSW |
7 |
131,027,504 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9177:Acadsb
|
UTSW |
7 |
131,033,763 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9268:Acadsb
|
UTSW |
7 |
131,033,763 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9763:Acadsb
|
UTSW |
7 |
131,045,327 (GRCm39) |
missense |
probably benign |
0.23 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAATACCCAAGGTACCTGCCAG -3'
(R):5'- CAAGGACTATGGTTCTGCCCTTAG -3'
Sequencing Primer
(F):5'- AAGGTACCTGCCAGCTCTG -3'
(R):5'- GGACTATGGTTCTGCCCTTAGAAAAG -3'
|
| Posted On |
2016-06-15 |
Incidental Mutation