Incidental Mutation 'R5190:Decr1'
ID |
398036 |
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 # |
R5190 (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: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.1%
|
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: 45 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 |
Abca7 |
T |
C |
10: 79,835,427 (GRCm39) |
|
probably null |
Het |
Abca8a |
C |
T |
11: 109,980,735 (GRCm39) |
|
probably null |
Het |
Ablim3 |
A |
G |
18: 61,952,982 (GRCm39) |
Y361H |
probably benign |
Het |
Acan |
C |
T |
7: 78,748,289 (GRCm39) |
T1020I |
probably benign |
Het |
Baat |
A |
G |
4: 49,499,652 (GRCm39) |
L218P |
probably damaging |
Het |
Bcl11b |
C |
A |
12: 107,955,975 (GRCm39) |
C58F |
probably damaging |
Het |
Cand2 |
G |
T |
6: 115,766,474 (GRCm39) |
A360S |
probably damaging |
Het |
Cdh2 |
A |
G |
18: 16,783,372 (GRCm39) |
V62A |
possibly damaging |
Het |
Cep44 |
C |
T |
8: 56,985,831 (GRCm39) |
V354I |
probably benign |
Het |
Col3a1 |
G |
A |
1: 45,368,244 (GRCm39) |
R309Q |
unknown |
Het |
Col3a1 |
G |
A |
1: 45,383,967 (GRCm39) |
|
probably benign |
Het |
Coq5 |
A |
G |
5: 115,433,839 (GRCm39) |
|
probably null |
Het |
Crtac1 |
A |
G |
19: 42,322,347 (GRCm39) |
I131T |
possibly damaging |
Het |
Dnajc13 |
A |
G |
9: 104,051,724 (GRCm39) |
V1706A |
probably benign |
Het |
Dop1a |
A |
G |
9: 86,369,357 (GRCm39) |
I63M |
probably damaging |
Het |
F830045P16Rik |
T |
C |
2: 129,314,635 (GRCm39) |
D214G |
probably benign |
Het |
Fam216a |
T |
A |
5: 122,505,584 (GRCm39) |
|
probably null |
Het |
Fdxacb1 |
A |
C |
9: 50,683,387 (GRCm39) |
H248P |
possibly damaging |
Het |
Gnai1 |
A |
T |
5: 18,496,596 (GRCm39) |
V109E |
probably benign |
Het |
Helz2 |
A |
T |
2: 180,872,550 (GRCm39) |
|
probably null |
Het |
Itgam |
T |
C |
7: 127,715,489 (GRCm39) |
|
probably null |
Het |
Kcnh1 |
A |
G |
1: 192,187,836 (GRCm39) |
S766G |
probably benign |
Het |
Klra1 |
C |
A |
6: 130,352,241 (GRCm39) |
C167F |
probably damaging |
Het |
Krtap9-3 |
T |
A |
11: 99,488,808 (GRCm39) |
T25S |
probably benign |
Het |
Mapk6 |
T |
C |
9: 75,295,626 (GRCm39) |
Y624C |
probably damaging |
Het |
Or10ag2 |
A |
G |
2: 87,249,187 (GRCm39) |
Y263C |
probably damaging |
Het |
Or1ad8 |
T |
G |
11: 50,898,381 (GRCm39) |
I194S |
probably damaging |
Het |
Or2y1g |
T |
C |
11: 49,171,209 (GRCm39) |
V78A |
probably damaging |
Het |
Or52e4 |
C |
T |
7: 104,705,660 (GRCm39) |
S69L |
probably damaging |
Het |
Or9m2 |
T |
A |
2: 87,821,107 (GRCm39) |
Y217* |
probably null |
Het |
P3h2 |
A |
G |
16: 25,803,699 (GRCm39) |
S356P |
possibly damaging |
Het |
Pde12 |
C |
T |
14: 26,387,532 (GRCm39) |
|
probably null |
Het |
Rln3 |
T |
G |
8: 84,769,866 (GRCm39) |
K94N |
probably damaging |
Het |
Skint5 |
T |
C |
4: 113,620,711 (GRCm39) |
I668V |
unknown |
Het |
Slitrk5 |
C |
A |
14: 111,916,852 (GRCm39) |
Q159K |
probably damaging |
Het |
Trim3 |
G |
T |
7: 105,268,716 (GRCm39) |
N79K |
probably damaging |
Het |
Tyw1 |
T |
A |
5: 130,296,756 (GRCm39) |
C101* |
probably null |
Het |
Ulk2 |
T |
C |
11: 61,672,537 (GRCm39) |
T934A |
probably benign |
Het |
Unc5b |
T |
C |
10: 60,608,072 (GRCm39) |
Y687C |
probably benign |
Het |
Vmn1r195 |
C |
T |
13: 22,462,556 (GRCm39) |
R9* |
probably null |
Het |
Zfc3h1 |
T |
G |
10: 115,254,597 (GRCm39) |
L1397R |
probably damaging |
Het |
Zfp296 |
T |
C |
7: 19,311,332 (GRCm39) |
V9A |
probably benign |
Het |
Zfp423 |
T |
A |
8: 88,509,091 (GRCm39) |
S397C |
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 |
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 |
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'- CCCAGTAAAATGTTCCCTCCTAAG -3'
(R):5'- GGACCTCATTTGTGCCTGTC -3'
Sequencing Primer
(F):5'- GACCTTAAAATACGGGTAATTTTGC -3'
(R):5'- GTGCCTGTCATGTTTCCCGG -3'
|
Posted On |
2016-07-06 |