Incidental Mutation 'IGL00718:Decr1'
ID |
13408 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Decr1
|
Ensembl Gene |
ENSMUSG00000028223 |
Gene Name |
2,4-dienoyl CoA reductase 1, mitochondrial |
Synonyms |
1200012F07Rik, Nadph, Decr |
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.628)
|
Stock # |
IGL00718
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
15917240-15945377 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 15933056 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Tyrosine
at position 37
(D37Y)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000029877
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029877]
|
AlphaFold |
Q9CQ62 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000029877
AA Change: D37Y
PolyPhen 2
Score 0.229 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000029877 Gene: ENSMUSG00000028223 AA Change: D37Y
Domain | Start | End | E-Value | Type |
Pfam:adh_short
|
60 |
253 |
7.7e-34 |
PFAM |
Pfam:KR
|
61 |
182 |
4.3e-9 |
PFAM |
Pfam:adh_short_C2
|
66 |
304 |
2e-27 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150464
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an accessory enzyme which participates in the beta-oxidation and metabolism of unsaturated fatty enoyl-CoA esters. [provided by RefSeq, Jul 2008] PHENOTYPE: Mice homozygous for a null allele exhibit increased sensitivity to fasting and cold stresses. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 18 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
C9orf72 |
A |
T |
4: 35,213,015 (GRCm39) |
L220H |
probably damaging |
Het |
Cdk12 |
T |
C |
11: 98,140,502 (GRCm39) |
|
probably benign |
Het |
Cnksr1 |
T |
C |
4: 133,962,012 (GRCm39) |
E163G |
probably benign |
Het |
Eml4 |
A |
G |
17: 83,755,613 (GRCm39) |
I282V |
probably benign |
Het |
Fanci |
A |
G |
7: 79,093,922 (GRCm39) |
K1064R |
possibly damaging |
Het |
Insrr |
G |
T |
3: 87,720,981 (GRCm39) |
|
probably null |
Het |
Kcnt1 |
C |
T |
2: 25,782,419 (GRCm39) |
T186M |
probably damaging |
Het |
Mettl14 |
T |
C |
3: 123,164,988 (GRCm39) |
I334M |
probably damaging |
Het |
Mical3 |
G |
T |
6: 121,017,410 (GRCm39) |
H135Q |
probably damaging |
Het |
Ms4a4d |
A |
T |
19: 11,535,335 (GRCm39) |
N211I |
probably damaging |
Het |
Nsd3 |
T |
C |
8: 26,196,562 (GRCm39) |
V230A |
probably damaging |
Het |
Pcdhb13 |
T |
C |
18: 37,577,874 (GRCm39) |
Y751H |
possibly damaging |
Het |
Rad54l2 |
T |
C |
9: 106,590,654 (GRCm39) |
T491A |
probably damaging |
Het |
Scara3 |
G |
A |
14: 66,168,876 (GRCm39) |
T247I |
possibly damaging |
Het |
Snx19 |
T |
A |
9: 30,343,622 (GRCm39) |
L594Q |
probably damaging |
Het |
Unc79 |
T |
C |
12: 103,135,906 (GRCm39) |
V2251A |
possibly damaging |
Het |
Usp24 |
T |
C |
4: 106,266,901 (GRCm39) |
S1895P |
probably benign |
Het |
Vps4a |
A |
G |
8: 107,769,258 (GRCm39) |
N261S |
probably benign |
Het |
|
Other mutations in Decr1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02736:Decr1
|
APN |
4 |
15,930,952 (GRCm39) |
missense |
probably benign |
0.01 |
IGL03141:Decr1
|
APN |
4 |
15,932,902 (GRCm39) |
missense |
probably damaging |
1.00 |
I1329:Decr1
|
UTSW |
4 |
15,930,976 (GRCm39) |
nonsense |
probably null |
|
R0472:Decr1
|
UTSW |
4 |
15,919,849 (GRCm39) |
missense |
probably damaging |
1.00 |
R1295:Decr1
|
UTSW |
4 |
15,919,207 (GRCm39) |
missense |
possibly damaging |
0.93 |
R1898:Decr1
|
UTSW |
4 |
15,929,801 (GRCm39) |
missense |
probably damaging |
1.00 |
R1955:Decr1
|
UTSW |
4 |
15,924,256 (GRCm39) |
missense |
probably benign |
0.09 |
R3160:Decr1
|
UTSW |
4 |
15,930,972 (GRCm39) |
missense |
probably damaging |
0.99 |
R3162:Decr1
|
UTSW |
4 |
15,930,972 (GRCm39) |
missense |
probably damaging |
0.99 |
R3162:Decr1
|
UTSW |
4 |
15,930,972 (GRCm39) |
missense |
probably damaging |
0.99 |
R4545:Decr1
|
UTSW |
4 |
15,930,979 (GRCm39) |
missense |
probably damaging |
1.00 |
R4962:Decr1
|
UTSW |
4 |
15,930,976 (GRCm39) |
nonsense |
probably null |
|
R5188:Decr1
|
UTSW |
4 |
15,924,270 (GRCm39) |
missense |
probably damaging |
1.00 |
R5190:Decr1
|
UTSW |
4 |
15,924,270 (GRCm39) |
missense |
probably damaging |
1.00 |
R5215:Decr1
|
UTSW |
4 |
15,929,795 (GRCm39) |
missense |
probably damaging |
1.00 |
R5556:Decr1
|
UTSW |
4 |
15,919,244 (GRCm39) |
missense |
probably damaging |
1.00 |
R6164:Decr1
|
UTSW |
4 |
15,924,347 (GRCm39) |
missense |
probably benign |
0.32 |
R6253:Decr1
|
UTSW |
4 |
15,931,179 (GRCm39) |
missense |
probably benign |
0.00 |
R6313:Decr1
|
UTSW |
4 |
15,924,261 (GRCm39) |
missense |
probably benign |
0.00 |
R6830:Decr1
|
UTSW |
4 |
15,924,355 (GRCm39) |
critical splice acceptor site |
probably null |
|
R6998:Decr1
|
UTSW |
4 |
15,930,960 (GRCm39) |
missense |
probably damaging |
1.00 |
R7064:Decr1
|
UTSW |
4 |
15,945,392 (GRCm39) |
|
|
|
R8052:Decr1
|
UTSW |
4 |
15,933,019 (GRCm39) |
missense |
probably benign |
0.00 |
R8698:Decr1
|
UTSW |
4 |
15,922,483 (GRCm39) |
critical splice donor site |
probably null |
|
R8806:Decr1
|
UTSW |
4 |
15,945,351 (GRCm39) |
start codon destroyed |
probably benign |
0.01 |
R9217:Decr1
|
UTSW |
4 |
15,930,969 (GRCm39) |
missense |
probably damaging |
1.00 |
X0026:Decr1
|
UTSW |
4 |
15,919,846 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2012-12-06 |