Incidental Mutation 'R5188:Decr1'
ID |
398009 |
Institutional Source |
Beutler Lab
|
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 # |
R5188 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
15917240-15945377 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 15924270 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Methionine
at position 217
(V217M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000029877
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029877]
|
AlphaFold |
Q9CQ62 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000029877
AA Change: V217M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000029877 Gene: ENSMUSG00000028223 AA Change: V217M
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 |
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
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: 27 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2700049A03Rik |
G |
T |
12: 71,211,320 (GRCm39) |
E685* |
probably null |
Het |
2700049A03Rik |
A |
T |
12: 71,211,321 (GRCm39) |
E685V |
possibly damaging |
Het |
Abca12 |
T |
A |
1: 71,330,651 (GRCm39) |
I1335F |
probably benign |
Het |
Amigo3 |
C |
A |
9: 107,931,882 (GRCm39) |
A435E |
probably damaging |
Het |
Atr |
T |
A |
9: 95,803,778 (GRCm39) |
N1871K |
probably benign |
Het |
Ctsw |
C |
T |
19: 5,517,120 (GRCm39) |
A71T |
probably damaging |
Het |
Golgb1 |
A |
G |
16: 36,738,827 (GRCm39) |
T2389A |
probably benign |
Het |
Gpr151 |
A |
G |
18: 42,711,820 (GRCm39) |
M286T |
probably benign |
Het |
Katnbl1 |
T |
A |
2: 112,240,499 (GRCm39) |
I262N |
probably damaging |
Het |
Lrp1 |
A |
G |
10: 127,443,821 (GRCm39) |
C149R |
probably damaging |
Het |
Mpc1 |
A |
T |
17: 8,515,215 (GRCm39) |
|
probably benign |
Het |
Ndufv1 |
A |
T |
19: 4,059,988 (GRCm39) |
N37K |
probably damaging |
Het |
Or1n1b |
T |
A |
2: 36,780,405 (GRCm39) |
I152L |
probably benign |
Het |
Or5af2 |
C |
A |
11: 58,708,146 (GRCm39) |
T104K |
probably damaging |
Het |
Or8g50 |
T |
C |
9: 39,648,531 (GRCm39) |
V140A |
probably benign |
Het |
Or8k1 |
T |
G |
2: 86,047,521 (GRCm39) |
S178R |
probably benign |
Het |
Pnpla7 |
C |
A |
2: 24,887,312 (GRCm39) |
P52Q |
probably benign |
Het |
Prh1 |
A |
G |
6: 132,548,670 (GRCm39) |
Q59R |
unknown |
Het |
Ren1 |
A |
G |
1: 133,278,351 (GRCm39) |
|
probably benign |
Het |
Rnf148 |
T |
C |
6: 23,654,139 (GRCm39) |
T286A |
probably damaging |
Het |
Sdk1 |
T |
C |
5: 141,942,015 (GRCm39) |
|
probably null |
Het |
Srp72 |
T |
A |
5: 77,122,598 (GRCm39) |
S10T |
possibly damaging |
Het |
Stk11 |
G |
T |
10: 79,962,113 (GRCm39) |
G215V |
probably damaging |
Het |
Stk4 |
T |
C |
2: 163,930,828 (GRCm39) |
M143T |
possibly damaging |
Het |
Supt20 |
T |
A |
3: 54,617,849 (GRCm39) |
S318T |
possibly damaging |
Het |
Tchh |
G |
C |
3: 93,353,986 (GRCm39) |
R1142P |
unknown |
Het |
Vipas39 |
G |
T |
12: 87,301,021 (GRCm39) |
R161S |
probably benign |
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 |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CCAGTAAAATGTTCCCTCCTAAGAG -3'
(R):5'- TTTACTCGGGACCTCATTTGTG -3'
Sequencing Primer
(F):5'- GACCTTAAAATACGGGTAATTTTGC -3'
(R):5'- GGACCTCATTTGTGCCTGTCATG -3'
|
Posted On |
2016-07-06 |