Incidental Mutation 'R4545:Decr1'
| ID |
333707 |
| 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: 0.613)
|
| Stock # |
R4545 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
15917240-15945377 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 15930979 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Phenylalanine
at position 118
(V118F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029877
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029877]
|
| AlphaFold |
Q9CQ62 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029877
AA Change: V118F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000029877
Gene: ENSMUSG00000028223
AA Change: V118F
| 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
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.7%
|
| Validation Efficiency |
98% (41/42) |
| 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 |
|---|
| Akr1c20 |
A |
C |
13: 4,557,843 (GRCm39) |
V201G |
probably damaging |
Het |
| Atf7 |
A |
G |
15: 102,442,762 (GRCm39) |
V449A |
probably benign |
Het |
| Ccr1 |
G |
A |
9: 123,764,437 (GRCm39) |
A31V |
probably benign |
Het |
| Chrna6 |
A |
T |
8: 27,896,711 (GRCm39) |
S389T |
probably benign |
Het |
| Clic6 |
C |
T |
16: 92,289,045 (GRCm39) |
|
probably benign |
Het |
| Cmya5 |
G |
A |
13: 93,228,426 (GRCm39) |
R2221* |
probably null |
Het |
| Coq8b |
G |
T |
7: 26,932,930 (GRCm39) |
C13F |
probably benign |
Het |
| Cspg4 |
T |
A |
9: 56,795,913 (GRCm39) |
L1216Q |
possibly damaging |
Het |
| Dlec1 |
A |
T |
9: 118,957,146 (GRCm39) |
I796F |
probably damaging |
Het |
| Dnajc11 |
T |
A |
4: 152,064,398 (GRCm39) |
D516E |
probably damaging |
Het |
| Dock8 |
G |
A |
19: 25,165,722 (GRCm39) |
V1869M |
probably damaging |
Het |
| Dst |
A |
G |
1: 34,227,819 (GRCm39) |
D1982G |
probably damaging |
Het |
| Gnptab |
G |
A |
10: 88,250,457 (GRCm39) |
D190N |
probably benign |
Het |
| Golga4 |
A |
G |
9: 118,385,913 (GRCm39) |
K22E |
probably damaging |
Het |
| Hecw2 |
T |
C |
1: 53,852,381 (GRCm39) |
*1579W |
probably null |
Het |
| Ica1l |
A |
G |
1: 60,052,977 (GRCm39) |
|
probably null |
Het |
| Ift122 |
T |
A |
6: 115,867,549 (GRCm39) |
L433Q |
probably damaging |
Het |
| Iqgap1 |
T |
C |
7: 80,412,315 (GRCm39) |
|
probably null |
Het |
| Klra13-ps |
T |
C |
6: 130,268,232 (GRCm39) |
|
noncoding transcript |
Het |
| Mndal |
A |
T |
1: 173,703,230 (GRCm39) |
Y58* |
probably null |
Het |
| Mvb12b |
G |
C |
2: 33,717,712 (GRCm39) |
P172R |
possibly damaging |
Het |
| Ncapg |
T |
C |
5: 45,828,554 (GRCm39) |
F102L |
probably damaging |
Het |
| Or1e30 |
T |
C |
11: 73,677,992 (GRCm39) |
V76A |
probably damaging |
Het |
| Or5an11 |
T |
C |
19: 12,246,188 (GRCm39) |
V198A |
possibly damaging |
Het |
| Or5b97 |
T |
A |
19: 12,878,632 (GRCm39) |
K171* |
probably null |
Het |
| Pde8a |
A |
T |
7: 80,977,847 (GRCm39) |
R713S |
probably damaging |
Het |
| Rbks |
T |
C |
5: 31,781,912 (GRCm39) |
N296S |
probably benign |
Het |
| Sema3c |
G |
A |
5: 17,899,770 (GRCm39) |
V421I |
probably benign |
Het |
| Tm9sf1 |
A |
G |
14: 55,875,565 (GRCm39) |
V393A |
possibly damaging |
Het |
| Tubgcp2 |
G |
A |
7: 139,575,984 (GRCm39) |
P893L |
possibly damaging |
Het |
| Uba52rt |
C |
T |
4: 3,973,244 (GRCm39) |
R106H |
probably benign |
Het |
| Vnn3 |
G |
A |
10: 23,732,224 (GRCm39) |
R158H |
probably benign |
Het |
| Zfa-ps |
G |
T |
10: 52,421,032 (GRCm39) |
|
noncoding transcript |
Het |
| Zfp414 |
T |
C |
17: 33,850,622 (GRCm39) |
|
probably benign |
Het |
| Zfp810 |
G |
A |
9: 22,190,041 (GRCm39) |
T289I |
probably damaging |
Het |
| Zfp819 |
G |
T |
7: 43,267,209 (GRCm39) |
R488L |
probably damaging |
Het |
| Zfp942 |
C |
T |
17: 22,147,285 (GRCm39) |
G448D |
probably benign |
Het |
| Zscan12 |
A |
G |
13: 21,550,875 (GRCm39) |
K165E |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTTCTTTGCTTTAAACAGAGCCGG -3'
(R):5'- TGTTTTGAAAGCGACTGCAGAAG -3'
Sequencing Primer
(F):5'- TAAACAGAGCCGGCTTTTCC -3'
(R):5'- TTGAAAGCGACTGCAGAAGAGATTTC -3'
|
| Posted On |
2015-08-18 |
Incidental Mutation