Incidental Mutation 'IGL01967:Mecr'
| ID |
181585 |
| 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 # |
IGL01967
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
131570781-131595097 bp(+) (GRCm39) |
| Type of Mutation |
splice site (3 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 131589192 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: ENSMUST00000145045
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143067
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb5 |
A |
G |
12: 118,831,707 (GRCm39) |
L1215P |
probably damaging |
Het |
| Abce1 |
T |
C |
8: 80,412,620 (GRCm39) |
D569G |
probably damaging |
Het |
| Adnp |
A |
G |
2: 168,025,339 (GRCm39) |
V652A |
possibly damaging |
Het |
| Bco2 |
A |
G |
9: 50,446,809 (GRCm39) |
I448T |
probably damaging |
Het |
| Cdh20 |
T |
A |
1: 104,868,762 (GRCm39) |
H84Q |
probably damaging |
Het |
| Cep126 |
A |
G |
9: 8,095,209 (GRCm39) |
|
probably null |
Het |
| Clca4b |
A |
G |
3: 144,633,951 (GRCm39) |
|
probably benign |
Het |
| Fat2 |
T |
A |
11: 55,202,649 (GRCm39) |
N142Y |
probably damaging |
Het |
| Gnaq |
C |
T |
19: 16,355,524 (GRCm39) |
R247C |
probably damaging |
Het |
| Itprid1 |
A |
T |
6: 55,874,896 (GRCm39) |
E282V |
probably damaging |
Het |
| Klf3 |
T |
C |
5: 64,979,430 (GRCm39) |
S91P |
probably damaging |
Het |
| Lmtk2 |
C |
A |
5: 144,119,597 (GRCm39) |
H1353N |
probably benign |
Het |
| Magi1 |
G |
T |
6: 93,685,115 (GRCm39) |
H526Q |
probably damaging |
Het |
| Mllt6 |
T |
C |
11: 97,565,603 (GRCm39) |
F630L |
probably damaging |
Het |
| Nav1 |
T |
C |
1: 135,464,983 (GRCm39) |
N274S |
probably damaging |
Het |
| Nmi |
T |
C |
2: 51,846,052 (GRCm39) |
|
probably null |
Het |
| Or7e170 |
A |
G |
9: 19,794,885 (GRCm39) |
S239P |
probably damaging |
Het |
| Perm1 |
G |
T |
4: 156,302,118 (GRCm39) |
G221W |
probably damaging |
Het |
| Pikfyve |
T |
A |
1: 65,303,524 (GRCm39) |
N1681K |
possibly damaging |
Het |
| Ptch2 |
T |
C |
4: 116,971,430 (GRCm39) |
|
probably benign |
Het |
| Sc5d |
A |
T |
9: 42,169,930 (GRCm39) |
L97Q |
possibly damaging |
Het |
| Scaf8 |
T |
A |
17: 3,247,213 (GRCm39) |
N845K |
possibly damaging |
Het |
| Sema7a |
A |
G |
9: 57,863,678 (GRCm39) |
K284E |
probably damaging |
Het |
| Slc16a3 |
G |
A |
11: 120,847,864 (GRCm39) |
V351M |
probably damaging |
Het |
| Strn3 |
A |
G |
12: 51,699,596 (GRCm39) |
I192T |
probably damaging |
Het |
| Syne2 |
A |
C |
12: 75,988,077 (GRCm39) |
D1745A |
probably damaging |
Het |
| Ttc13 |
T |
C |
8: 125,439,386 (GRCm39) |
T123A |
probably damaging |
Het |
| Zbtb18 |
T |
A |
1: 177,275,348 (GRCm39) |
V236D |
probably benign |
Het |
| Zfp438 |
T |
C |
18: 5,214,049 (GRCm39) |
E303G |
probably benign |
Het |
| Zfp644 |
T |
C |
5: 106,786,109 (GRCm39) |
Q146R |
probably damaging |
Het |
| Zfp972 |
A |
T |
2: 177,563,495 (GRCm39) |
N38K |
probably damaging |
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 |
|
IGL02405:Mecr
|
APN |
4 |
131,590,303 (GRCm39) |
critical splice donor 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 |
2014-05-07 |
Incidental Mutation