Incidental Mutation 'IGL02405:Mecr'
| ID |
292049 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Mecr
|
| Ensembl Gene |
ENSMUSG00000028910 |
| Gene Name |
mitochondrial trans-2-enoyl-CoA reductase |
| Synonyms |
Nrbf1 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02405
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
131570781-131595097 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (1 bp from exon) |
| DNA Base Change (assembly) |
G to A
at 131590303 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030742
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030742]
[ENSMUST00000137321]
|
| AlphaFold |
Q9DCS3 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000030742
|
| SMART Domains |
Protein: ENSMUSP00000030742
Gene: ENSMUSG00000028910
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ADH_N
|
70 |
140 |
7.7e-11 |
PFAM |
|
Pfam:ADH_zinc_N
|
195 |
332 |
1.1e-19 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127735
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128116
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128607
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000137321
|
| SMART Domains |
Protein: ENSMUSP00000114543
Gene: ENSMUSG00000028910
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ADH_N
|
104 |
176 |
7e-12 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137412
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142386
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143067
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145045
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca17 |
A |
G |
17: 24,498,036 (GRCm39) |
S1434P |
possibly damaging |
Het |
| Abcc12 |
G |
T |
8: 87,284,782 (GRCm39) |
Q278K |
probably damaging |
Het |
| Adk |
A |
G |
14: 21,153,899 (GRCm39) |
K48R |
probably benign |
Het |
| Atp8b3 |
C |
T |
10: 80,366,462 (GRCm39) |
G267D |
probably damaging |
Het |
| Bpifa6 |
T |
A |
2: 153,832,782 (GRCm39) |
L299* |
probably null |
Het |
| Cblb |
G |
A |
16: 51,986,616 (GRCm39) |
A620T |
probably benign |
Het |
| Cep128 |
C |
T |
12: 91,233,760 (GRCm39) |
R436H |
probably benign |
Het |
| Chd4 |
A |
G |
6: 125,074,190 (GRCm39) |
D21G |
probably benign |
Het |
| Cnksr1 |
T |
C |
4: 133,963,592 (GRCm39) |
D30G |
possibly damaging |
Het |
| Crybb2 |
A |
G |
5: 113,206,374 (GRCm39) |
Y154H |
probably damaging |
Het |
| Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
| Dhx57 |
A |
T |
17: 80,562,979 (GRCm39) |
|
probably null |
Het |
| Eri2 |
T |
C |
7: 119,384,705 (GRCm39) |
R599G |
probably damaging |
Het |
| Fcrl1 |
A |
C |
3: 87,293,074 (GRCm39) |
K244Q |
probably damaging |
Het |
| Gm11992 |
A |
G |
11: 9,009,939 (GRCm39) |
N179S |
probably benign |
Het |
| Hgfac |
A |
G |
5: 35,201,824 (GRCm39) |
D319G |
probably benign |
Het |
| Irf5 |
G |
A |
6: 29,535,760 (GRCm39) |
R258H |
probably damaging |
Het |
| Obscn |
T |
G |
11: 59,023,428 (GRCm39) |
K650Q |
probably damaging |
Het |
| Or5b98 |
A |
G |
19: 12,931,823 (GRCm39) |
Y290C |
probably damaging |
Het |
| Pde4d |
T |
C |
13: 108,996,743 (GRCm39) |
|
probably null |
Het |
| Saxo4 |
G |
A |
19: 10,451,930 (GRCm39) |
T406I |
probably damaging |
Het |
| Serpinh1 |
A |
G |
7: 98,996,541 (GRCm39) |
M217T |
possibly damaging |
Het |
| Setbp1 |
A |
T |
18: 78,900,514 (GRCm39) |
M1051K |
probably damaging |
Het |
| Slc43a3 |
A |
G |
2: 84,768,585 (GRCm39) |
E68G |
probably damaging |
Het |
| Supt5 |
T |
C |
7: 28,015,249 (GRCm39) |
N969D |
probably benign |
Het |
| Taf2 |
A |
T |
15: 54,897,551 (GRCm39) |
|
probably benign |
Het |
| Tlr2 |
A |
G |
3: 83,743,981 (GRCm39) |
F701L |
probably damaging |
Het |
| Trim46 |
T |
C |
3: 89,149,792 (GRCm39) |
T222A |
probably benign |
Het |
| Tshz3 |
A |
T |
7: 36,469,075 (GRCm39) |
N355Y |
possibly damaging |
Het |
| Vmn2r3 |
A |
G |
3: 64,178,620 (GRCm39) |
|
probably benign |
Het |
| Xkr9 |
A |
T |
1: 13,742,997 (GRCm39) |
|
probably benign |
Het |
| Zfhx3 |
C |
T |
8: 109,682,374 (GRCm39) |
A3271V |
unknown |
Het |
|
| Other mutations in Mecr |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01133:Mecr
|
APN |
4 |
131,570,907 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01967:Mecr
|
APN |
4 |
131,589,192 (GRCm39) |
splice site |
probably null |
|
|
IGL02878:Mecr
|
APN |
4 |
131,582,019 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1638:Mecr
|
UTSW |
4 |
131,585,127 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1796:Mecr
|
UTSW |
4 |
131,592,382 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2213:Mecr
|
UTSW |
4 |
131,581,126 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2513:Mecr
|
UTSW |
4 |
131,581,076 (GRCm39) |
missense |
probably benign |
0.15 |
|
R6189:Mecr
|
UTSW |
4 |
131,592,565 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R6594:Mecr
|
UTSW |
4 |
131,582,004 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6957:Mecr
|
UTSW |
4 |
131,589,172 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7274:Mecr
|
UTSW |
4 |
131,581,089 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7341:Mecr
|
UTSW |
4 |
131,570,986 (GRCm39) |
missense |
probably null |
0.94 |
|
R7887:Mecr
|
UTSW |
4 |
131,588,177 (GRCm39) |
splice site |
probably null |
|
|
Z1177:Mecr
|
UTSW |
4 |
131,581,894 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation