Incidental Mutation 'IGL02736:Decr1'
ID |
305646 |
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: 0.613)
|
Stock # |
IGL02736
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
15917240-15945377 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 15930952 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Serine
at position 127
(T127S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000029877
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029877]
|
AlphaFold |
Q9CQ62 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000029877
AA Change: T127S
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000029877 Gene: ENSMUSG00000028223 AA Change: T127S
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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A830018L16Rik |
G |
A |
1: 12,042,275 (GRCm39) |
A416T |
probably benign |
Het |
Aadacl4fm1 |
G |
A |
4: 144,255,207 (GRCm39) |
R209K |
probably benign |
Het |
Akap12 |
A |
G |
10: 4,305,637 (GRCm39) |
I816V |
probably benign |
Het |
Antxrl |
A |
G |
14: 33,778,575 (GRCm39) |
|
probably benign |
Het |
Atp1a3 |
G |
A |
7: 24,679,534 (GRCm39) |
T920I |
probably damaging |
Het |
Cd22 |
C |
T |
7: 30,577,470 (GRCm39) |
|
probably null |
Het |
Cntn3 |
T |
A |
6: 102,180,900 (GRCm39) |
N765I |
probably damaging |
Het |
Cracdl |
T |
C |
1: 37,676,954 (GRCm39) |
E76G |
probably damaging |
Het |
Crebbp |
G |
A |
16: 3,972,774 (GRCm39) |
P307S |
probably benign |
Het |
Dapk2 |
T |
A |
9: 66,176,198 (GRCm39) |
M333K |
probably benign |
Het |
Dnmbp |
A |
T |
19: 43,838,209 (GRCm39) |
|
probably benign |
Het |
Erbin |
A |
G |
13: 103,975,903 (GRCm39) |
S664P |
probably damaging |
Het |
Hectd4 |
G |
T |
5: 121,480,782 (GRCm39) |
C2941F |
possibly damaging |
Het |
Ighv1-4 |
A |
G |
12: 114,450,872 (GRCm39) |
Y79H |
probably benign |
Het |
Matn3 |
T |
A |
12: 9,005,422 (GRCm39) |
D277E |
possibly damaging |
Het |
Mgarp |
C |
A |
3: 51,303,866 (GRCm39) |
A36S |
possibly damaging |
Het |
Mycbp2 |
A |
G |
14: 103,351,678 (GRCm39) |
|
probably benign |
Het |
Nynrin |
G |
A |
14: 56,108,366 (GRCm39) |
A1158T |
probably damaging |
Het |
Or4k5 |
G |
A |
14: 50,385,881 (GRCm39) |
A150V |
probably benign |
Het |
Or6k14 |
T |
G |
1: 173,927,213 (GRCm39) |
I63S |
probably damaging |
Het |
Pakap |
C |
A |
4: 57,709,721 (GRCm39) |
A222E |
probably damaging |
Het |
Pkd1l2 |
T |
C |
8: 117,767,405 (GRCm39) |
D1295G |
probably benign |
Het |
Ppig |
A |
G |
2: 69,566,438 (GRCm39) |
I171M |
probably damaging |
Het |
Ptprs |
A |
T |
17: 56,765,248 (GRCm39) |
V12E |
possibly damaging |
Het |
Rnf123 |
G |
A |
9: 107,945,501 (GRCm39) |
R390* |
probably null |
Het |
Rpgrip1l |
T |
A |
8: 91,990,219 (GRCm39) |
Q741L |
possibly damaging |
Het |
Slco6d1 |
T |
C |
1: 98,356,036 (GRCm39) |
V157A |
possibly damaging |
Het |
Sox6 |
A |
C |
7: 115,179,875 (GRCm39) |
D302E |
probably damaging |
Het |
Spata3 |
T |
C |
1: 85,952,157 (GRCm39) |
V136A |
probably damaging |
Het |
St6galnac6 |
G |
A |
2: 32,504,983 (GRCm39) |
R129H |
probably benign |
Het |
Tmem184c |
A |
T |
8: 78,324,475 (GRCm39) |
D338E |
probably damaging |
Het |
Tmem67 |
A |
G |
4: 12,045,789 (GRCm39) |
|
probably null |
Het |
Ttn |
A |
T |
2: 76,708,614 (GRCm39) |
|
probably benign |
Het |
Usp16 |
T |
C |
16: 87,261,723 (GRCm39) |
V113A |
possibly damaging |
Het |
Utrn |
A |
G |
10: 12,297,384 (GRCm39) |
Y675H |
probably damaging |
Het |
Zc3h4 |
T |
A |
7: 16,151,308 (GRCm39) |
Y117* |
probably null |
Het |
Zc3h7b |
A |
T |
15: 81,676,175 (GRCm39) |
M694L |
probably benign |
Het |
Zfp345 |
A |
T |
2: 150,316,474 (GRCm39) |
Y45N |
probably 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 |
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 |
2015-04-16 |