Incidental Mutation 'IGL03141:Decr1'
ID |
410695 |
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 # |
IGL03141
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
15917240-15945377 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 15932902 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Lysine
at position 88
(I88K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000029877
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029877]
|
AlphaFold |
Q9CQ62 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000029877
AA Change: I88K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000029877 Gene: ENSMUSG00000028223 AA Change: I88K
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: 20 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adm2 |
T |
C |
15: 89,207,531 (GRCm39) |
I14T |
probably benign |
Het |
AY761185 |
G |
A |
8: 21,434,576 (GRCm39) |
R51C |
possibly damaging |
Het |
Cenpt |
T |
A |
8: 106,578,573 (GRCm39) |
T15S |
probably damaging |
Het |
Cotl1 |
T |
C |
8: 120,537,022 (GRCm39) |
K131E |
possibly damaging |
Het |
D5Ertd579e |
T |
A |
5: 36,770,621 (GRCm39) |
D1258V |
possibly damaging |
Het |
Efcab3 |
T |
C |
11: 104,986,696 (GRCm39) |
S5408P |
probably damaging |
Het |
Gsto2 |
T |
C |
19: 47,863,312 (GRCm39) |
Y63H |
probably damaging |
Het |
Lrp2 |
A |
T |
2: 69,307,370 (GRCm39) |
D2896E |
probably damaging |
Het |
Lrrc3b |
T |
G |
14: 15,358,390 (GRCm38) |
D72A |
probably damaging |
Het |
Npas1 |
T |
C |
7: 16,199,063 (GRCm39) |
E164G |
probably damaging |
Het |
Or6f1 |
T |
A |
7: 85,970,909 (GRCm39) |
I84F |
probably damaging |
Het |
Parp14 |
C |
A |
16: 35,659,663 (GRCm39) |
R1653L |
probably benign |
Het |
Polq |
A |
G |
16: 36,837,720 (GRCm39) |
|
probably benign |
Het |
Sec31b |
A |
T |
19: 44,514,759 (GRCm39) |
|
probably benign |
Het |
Slc7a11 |
C |
T |
3: 50,336,334 (GRCm39) |
A337T |
possibly damaging |
Het |
Snapc3 |
A |
G |
4: 83,353,523 (GRCm39) |
I187M |
probably damaging |
Het |
Sorcs2 |
T |
C |
5: 36,222,699 (GRCm39) |
E352G |
probably benign |
Het |
Spout1 |
A |
C |
2: 30,065,067 (GRCm39) |
V311G |
probably damaging |
Het |
Syne1 |
T |
A |
10: 5,374,261 (GRCm39) |
K182M |
probably damaging |
Het |
Vmn2r110 |
A |
G |
17: 20,803,976 (GRCm39) |
S200P |
possibly damaging |
Het |
|
Other mutations in Decr1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00718:Decr1
|
APN |
4 |
15,933,056 (GRCm39) |
missense |
probably benign |
0.23 |
IGL02736:Decr1
|
APN |
4 |
15,930,952 (GRCm39) |
missense |
probably benign |
0.01 |
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 |
2016-08-02 |