Incidental Mutation 'IGL00684:Carnmt1'
ID |
12414 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Carnmt1
|
Ensembl Gene |
ENSMUSG00000024726 |
Gene Name |
carnosine N-methyltransferase 1 |
Synonyms |
2410127L17Rik |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.929)
|
Stock # |
IGL00684
|
Quality Score |
|
Status
|
|
Chromosome |
19 |
Chromosomal Location |
18648128-18684564 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 18680746 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 340
(E340G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000025632
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025632]
|
AlphaFold |
Q80UY1 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000025632
AA Change: E340G
PolyPhen 2
Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000025632 Gene: ENSMUSG00000024726 AA Change: E340G
Domain | Start | End | E-Value | Type |
low complexity region
|
28 |
46 |
N/A |
INTRINSIC |
N2227
|
135 |
400 |
2.56e-169 |
SMART |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a methyltransferase that converts carnosine to anserine, a dipeptide found abundantly in skeletal muscle. The encoded protein can methylate other dipeptides as well. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Feb 2016]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 12 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arhgap35 |
G |
T |
7: 16,295,625 (GRCm39) |
R1147S |
possibly damaging |
Het |
Casp8 |
T |
C |
1: 58,866,473 (GRCm39) |
|
probably null |
Het |
Cntnap1 |
C |
T |
11: 101,075,918 (GRCm39) |
A934V |
possibly damaging |
Het |
Hoxd8 |
T |
C |
2: 74,537,110 (GRCm39) |
V93A |
probably benign |
Het |
Luc7l2 |
A |
G |
6: 38,585,111 (GRCm39) |
|
probably benign |
Het |
Nup42 |
C |
A |
5: 24,387,041 (GRCm39) |
A277E |
possibly damaging |
Het |
Sag |
A |
T |
1: 87,752,146 (GRCm39) |
|
probably null |
Het |
Senp1 |
A |
G |
15: 97,962,719 (GRCm39) |
S322P |
probably damaging |
Het |
Senp3 |
A |
G |
11: 69,564,919 (GRCm39) |
V517A |
possibly damaging |
Het |
Shprh |
A |
G |
10: 11,038,781 (GRCm39) |
D512G |
probably benign |
Het |
Syne1 |
T |
A |
10: 5,342,167 (GRCm38) |
|
probably benign |
Het |
Tut4 |
T |
C |
4: 108,336,663 (GRCm39) |
M129T |
possibly damaging |
Het |
|
Other mutations in Carnmt1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01347:Carnmt1
|
APN |
19 |
18,668,818 (GRCm39) |
missense |
probably benign |
0.21 |
R0088:Carnmt1
|
UTSW |
19 |
18,655,217 (GRCm39) |
missense |
probably benign |
0.02 |
R1929:Carnmt1
|
UTSW |
19 |
18,680,734 (GRCm39) |
missense |
probably damaging |
1.00 |
R2270:Carnmt1
|
UTSW |
19 |
18,680,734 (GRCm39) |
missense |
probably damaging |
1.00 |
R2271:Carnmt1
|
UTSW |
19 |
18,680,734 (GRCm39) |
missense |
probably damaging |
1.00 |
R2272:Carnmt1
|
UTSW |
19 |
18,680,734 (GRCm39) |
missense |
probably damaging |
1.00 |
R2519:Carnmt1
|
UTSW |
19 |
18,671,075 (GRCm39) |
missense |
probably benign |
0.41 |
R4597:Carnmt1
|
UTSW |
19 |
18,648,451 (GRCm39) |
missense |
probably damaging |
1.00 |
R5030:Carnmt1
|
UTSW |
19 |
18,668,950 (GRCm39) |
missense |
possibly damaging |
0.82 |
R5114:Carnmt1
|
UTSW |
19 |
18,655,098 (GRCm39) |
missense |
probably damaging |
1.00 |
R5933:Carnmt1
|
UTSW |
19 |
18,681,469 (GRCm39) |
missense |
probably benign |
0.00 |
R7262:Carnmt1
|
UTSW |
19 |
18,655,228 (GRCm39) |
missense |
probably benign |
0.33 |
R7394:Carnmt1
|
UTSW |
19 |
18,648,201 (GRCm39) |
start gained |
probably benign |
|
X0024:Carnmt1
|
UTSW |
19 |
18,655,068 (GRCm39) |
nonsense |
probably null |
|
X0065:Carnmt1
|
UTSW |
19 |
18,667,673 (GRCm39) |
missense |
probably benign |
0.00 |
Z1176:Carnmt1
|
UTSW |
19 |
18,681,454 (GRCm39) |
missense |
probably benign |
0.27 |
Z1176:Carnmt1
|
UTSW |
19 |
18,656,577 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
Posted On |
2012-12-06 |