Incidental Mutation 'R0003:Decr2'
| ID |
7957 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Decr2
|
| Ensembl Gene |
ENSMUSG00000036775 |
| Gene Name |
2-4-dienoyl-Coenzyme A reductase 2, peroxisomal |
| Synonyms |
|
| MMRRC Submission |
038299-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0003 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
26300182-26309096 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 26302027 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 234
(N234K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000045621
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040907]
|
| AlphaFold |
Q9WV68 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000040907
AA Change: N234K
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000045621
Gene: ENSMUSG00000036775
AA Change: N234K
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:NDK
|
1 |
28 |
5e-9 |
BLAST |
|
Pfam:adh_short
|
29 |
224 |
3.6e-44 |
PFAM |
|
Pfam:KR
|
30 |
208 |
3.8e-11 |
PFAM |
|
Pfam:adh_short_C2
|
35 |
271 |
6.4e-30 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123056
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134696
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137672
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150534
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 80.3%
- 3x: 68.0%
- 10x: 36.1%
- 20x: 15.3%
|
| Validation Efficiency |
36% (21/58) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 16 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adnp2 |
T |
C |
18: 80,174,205 (GRCm39) |
Y68C |
probably damaging |
Het |
| Arsi |
C |
T |
18: 61,050,058 (GRCm39) |
R314C |
probably benign |
Het |
| Cnnm3 |
T |
C |
1: 36,563,124 (GRCm39) |
V696A |
probably benign |
Het |
| Eprs1 |
T |
C |
1: 185,146,588 (GRCm39) |
V1206A |
probably damaging |
Het |
| Fmnl3 |
T |
C |
15: 99,219,013 (GRCm39) |
T807A |
probably damaging |
Het |
| Ints3 |
C |
A |
3: 90,315,818 (GRCm39) |
M315I |
probably benign |
Het |
| Lamc1 |
A |
C |
1: 153,138,185 (GRCm39) |
L223R |
probably damaging |
Het |
| Loxhd1 |
T |
C |
18: 77,427,196 (GRCm39) |
L398P |
probably damaging |
Het |
| Mx1 |
A |
G |
16: 97,252,788 (GRCm39) |
|
probably benign |
Het |
| Myt1 |
G |
A |
2: 181,443,664 (GRCm39) |
G497S |
probably damaging |
Het |
| Or5t17 |
T |
A |
2: 86,832,710 (GRCm39) |
Y132* |
probably null |
Het |
| Or9q1 |
T |
C |
19: 13,805,050 (GRCm39) |
T237A |
probably damaging |
Het |
| Ptgdr2 |
G |
A |
19: 10,917,792 (GRCm39) |
C103Y |
probably damaging |
Het |
| Spta1 |
A |
T |
1: 174,032,839 (GRCm39) |
Q965H |
probably damaging |
Het |
| Tfg |
T |
C |
16: 56,511,351 (GRCm39) |
Y326C |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,574,027 (GRCm39) |
D25622G |
probably damaging |
Het |
|
| Other mutations in Decr2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01657:Decr2
|
APN |
17 |
26,301,926 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02023:Decr2
|
APN |
17 |
26,306,354 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0003:Decr2
|
UTSW |
17 |
26,302,027 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1583:Decr2
|
UTSW |
17 |
26,301,998 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1588:Decr2
|
UTSW |
17 |
26,302,002 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R1903:Decr2
|
UTSW |
17 |
26,306,387 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1968:Decr2
|
UTSW |
17 |
26,302,053 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2269:Decr2
|
UTSW |
17 |
26,302,858 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4758:Decr2
|
UTSW |
17 |
26,307,914 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5021:Decr2
|
UTSW |
17 |
26,301,980 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5174:Decr2
|
UTSW |
17 |
26,306,443 (GRCm39) |
splice site |
probably null |
|
|
R6608:Decr2
|
UTSW |
17 |
26,302,858 (GRCm39) |
missense |
probably benign |
0.30 |
|
R6661:Decr2
|
UTSW |
17 |
26,302,561 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R8036:Decr2
|
UTSW |
17 |
26,301,962 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8799:Decr2
|
UTSW |
17 |
26,307,911 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8969:Decr2
|
UTSW |
17 |
26,306,355 (GRCm39) |
missense |
probably benign |
|
|
R9706:Decr2
|
UTSW |
17 |
26,302,869 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Posted On |
2012-11-20 |
Incidental Mutation