Incidental Mutation 'R3160:Decr1'
ID |
258092 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Decr1
|
Ensembl Gene |
ENSMUSG00000028223 |
Gene Name |
2,4-dienoyl CoA reductase 1, mitochondrial |
Synonyms |
1200012F07Rik, Nadph, Decr |
MMRRC Submission |
040611-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.628)
|
Stock # |
R3160 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
15917240-15945377 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 15930972 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Valine
at position 120
(D120V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000029877
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029877]
|
AlphaFold |
Q9CQ62 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000029877
AA Change: D120V
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000029877 Gene: ENSMUSG00000028223 AA Change: D120V
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 |
0.8102 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.8%
|
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: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adcy9 |
A |
G |
16: 4,129,452 (GRCm39) |
L715P |
probably damaging |
Het |
Amer2 |
A |
G |
14: 60,616,000 (GRCm39) |
D65G |
probably damaging |
Het |
Btnl2 |
T |
C |
17: 34,577,039 (GRCm39) |
W65R |
probably damaging |
Het |
Camk1g |
T |
C |
1: 193,042,115 (GRCm39) |
T45A |
possibly damaging |
Het |
Ccdc181 |
T |
A |
1: 164,107,865 (GRCm39) |
S183T |
probably damaging |
Het |
Cep350 |
T |
C |
1: 155,738,910 (GRCm39) |
H2311R |
probably benign |
Het |
Copa |
T |
A |
1: 171,918,800 (GRCm39) |
C127S |
probably damaging |
Het |
Crbn |
T |
C |
6: 106,767,827 (GRCm39) |
Q221R |
probably benign |
Het |
Dapk2 |
T |
G |
9: 66,161,893 (GRCm39) |
V267G |
probably damaging |
Het |
Dennd1c |
C |
T |
17: 57,373,562 (GRCm39) |
G637D |
possibly damaging |
Het |
Disp1 |
T |
C |
1: 182,868,806 (GRCm39) |
K1205E |
probably benign |
Het |
Dnajc13 |
G |
T |
9: 104,097,097 (GRCm39) |
N510K |
possibly damaging |
Het |
Hnrnpu |
T |
C |
1: 178,158,690 (GRCm39) |
|
probably benign |
Het |
Iqgap1 |
G |
A |
7: 80,402,086 (GRCm39) |
A393V |
probably benign |
Het |
Irak2 |
G |
T |
6: 113,649,721 (GRCm39) |
A119S |
probably benign |
Het |
Itgb2l |
A |
G |
16: 96,238,589 (GRCm39) |
L70P |
probably damaging |
Het |
Itsn1 |
C |
A |
16: 91,649,932 (GRCm39) |
S202* |
probably null |
Het |
Mill2 |
A |
C |
7: 18,590,099 (GRCm39) |
E127A |
probably benign |
Het |
Msh6 |
T |
C |
17: 88,292,909 (GRCm39) |
Y555H |
probably damaging |
Het |
Myo18b |
A |
C |
5: 112,840,594 (GRCm39) |
S2400A |
probably damaging |
Het |
Naa25 |
A |
G |
5: 121,573,135 (GRCm39) |
|
probably null |
Het |
Nop2 |
A |
G |
6: 125,111,555 (GRCm39) |
N96S |
probably benign |
Het |
Or11g24 |
T |
A |
14: 50,662,488 (GRCm39) |
C171S |
probably damaging |
Het |
Or13c7b |
T |
A |
4: 43,820,544 (GRCm39) |
K272N |
probably benign |
Het |
Or2z2 |
T |
C |
11: 58,346,053 (GRCm39) |
T241A |
probably damaging |
Het |
Or4c52 |
T |
G |
2: 89,845,365 (GRCm39) |
Y30* |
probably null |
Het |
Pde5a |
T |
A |
3: 122,575,277 (GRCm39) |
L356* |
probably null |
Het |
Prss59 |
A |
G |
6: 40,903,003 (GRCm39) |
M123T |
probably benign |
Het |
Ralgapa1 |
A |
T |
12: 55,756,371 (GRCm39) |
N1075K |
probably damaging |
Het |
Rps2 |
G |
T |
17: 24,939,952 (GRCm39) |
A129S |
probably benign |
Het |
Serinc2 |
A |
G |
4: 130,154,528 (GRCm39) |
S175P |
probably benign |
Het |
Socs5 |
A |
T |
17: 87,442,146 (GRCm39) |
Q362L |
probably damaging |
Het |
Srbd1 |
A |
T |
17: 86,437,643 (GRCm39) |
D233E |
probably benign |
Het |
Srgap3 |
A |
G |
6: 112,706,619 (GRCm39) |
V826A |
probably benign |
Het |
Tns2 |
A |
G |
15: 102,021,771 (GRCm39) |
E1118G |
possibly damaging |
Het |
Topaz1 |
T |
C |
9: 122,578,446 (GRCm39) |
I452T |
probably benign |
Het |
Tuba8 |
A |
G |
6: 121,199,697 (GRCm39) |
D127G |
possibly damaging |
Het |
Tulp4 |
A |
G |
17: 6,248,983 (GRCm39) |
M1V |
probably null |
Het |
Urb1 |
A |
G |
16: 90,594,791 (GRCm39) |
L247P |
probably damaging |
Het |
Usp32 |
A |
G |
11: 84,916,362 (GRCm39) |
W861R |
probably damaging |
Het |
Vmn1r48 |
G |
A |
6: 90,013,360 (GRCm39) |
T155I |
probably benign |
Het |
Vmn2r117 |
A |
G |
17: 23,679,352 (GRCm39) |
L624P |
probably damaging |
Het |
Vstm5 |
T |
G |
9: 15,168,594 (GRCm39) |
S53A |
probably benign |
Het |
Yeats2 |
T |
C |
16: 20,012,395 (GRCm39) |
V531A |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TTTCTTTGCTTTAAACAGAGCCGG -3'
(R):5'- TGTTTTGAAAGCGACTGCAG -3'
Sequencing Primer
(F):5'- TAAACAGAGCCGGCTTTTCC -3'
(R):5'- TTGAAAGCGACTGCAGAAGAGATTTC -3'
|
Posted On |
2015-01-23 |