Incidental Mutation 'IGL00840:Camkmt'
ID |
13243 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Camkmt
|
Ensembl Gene |
ENSMUSG00000071037 |
Gene Name |
calmodulin-lysine N-methyltransferase |
Synonyms |
1700106N22Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL00840
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
85397989-85766017 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
T to G
at 85765551 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Stop codon
at position 319
(L319*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000092811
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095188]
|
AlphaFold |
Q3U2J5 |
Predicted Effect |
probably null
Transcript: ENSMUST00000095188
AA Change: L319*
|
SMART Domains |
Protein: ENSMUSP00000092811 Gene: ENSMUSG00000071037 AA Change: L319*
Domain | Start | End | E-Value | Type |
low complexity region
|
6 |
18 |
N/A |
INTRINSIC |
low complexity region
|
39 |
53 |
N/A |
INTRINSIC |
Pfam:Methyltransf_16
|
110 |
278 |
7.7e-22 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a class I protein methyltransferase that acts in the formation of trimethyllysine in calmodulin. The protein contains a AdoMet-binding motif and may play a role in calcium-dependent signaling. [provided by RefSeq, Sep 2012] PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced body weight, reduced muscle strength and altered somatosensory development and brain function. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts20 |
T |
C |
15: 94,180,363 (GRCm39) |
Y1764C |
probably damaging |
Het |
Agbl3 |
T |
C |
6: 34,776,094 (GRCm39) |
V200A |
possibly damaging |
Het |
Akr1b10 |
T |
C |
6: 34,371,041 (GRCm39) |
S264P |
possibly damaging |
Het |
Cdhr2 |
T |
C |
13: 54,867,965 (GRCm39) |
W513R |
probably damaging |
Het |
Cts8 |
T |
C |
13: 61,399,392 (GRCm39) |
Y189C |
probably damaging |
Het |
Cyp2d10 |
T |
A |
15: 82,288,691 (GRCm39) |
T264S |
probably benign |
Het |
Dbt |
G |
A |
3: 116,339,763 (GRCm39) |
G384S |
probably benign |
Het |
Dnah8 |
G |
A |
17: 31,009,915 (GRCm39) |
V3769M |
probably damaging |
Het |
Dnajc16 |
C |
A |
4: 141,495,314 (GRCm39) |
G468V |
probably damaging |
Het |
Eif3d |
A |
T |
15: 77,846,069 (GRCm39) |
N351K |
probably benign |
Het |
F5 |
T |
C |
1: 164,007,093 (GRCm39) |
M299T |
probably benign |
Het |
Fcamr |
G |
A |
1: 130,740,951 (GRCm39) |
V457M |
probably benign |
Het |
Heatr5b |
A |
G |
17: 79,072,866 (GRCm39) |
L1599P |
probably damaging |
Het |
Kl |
A |
T |
5: 150,904,252 (GRCm39) |
I335F |
possibly damaging |
Het |
Knop1 |
A |
G |
7: 118,452,021 (GRCm39) |
Y233H |
probably damaging |
Het |
Lhcgr |
T |
C |
17: 89,061,164 (GRCm39) |
|
probably benign |
Het |
Lypd11 |
A |
T |
7: 24,422,931 (GRCm39) |
L129H |
probably damaging |
Het |
Macrod2 |
A |
T |
2: 142,018,578 (GRCm39) |
N237I |
possibly damaging |
Het |
Myo7a |
T |
C |
7: 97,700,866 (GRCm39) |
S2168G |
probably benign |
Het |
Naxe |
T |
C |
3: 87,965,290 (GRCm39) |
I108V |
probably benign |
Het |
Ncbp1 |
T |
A |
4: 46,161,307 (GRCm39) |
W428R |
probably damaging |
Het |
Nxpe3 |
T |
C |
16: 55,664,595 (GRCm39) |
I542V |
probably damaging |
Het |
Phkb |
T |
A |
8: 86,684,216 (GRCm39) |
S424R |
probably benign |
Het |
Rgs20 |
C |
T |
1: 5,140,238 (GRCm39) |
V55I |
probably benign |
Het |
Ros1 |
T |
G |
10: 52,020,969 (GRCm39) |
T648P |
possibly damaging |
Het |
Rpgr |
T |
C |
X: 10,074,948 (GRCm39) |
I233V |
possibly damaging |
Het |
Slc25a31 |
T |
C |
3: 40,679,308 (GRCm39) |
S258P |
probably benign |
Het |
Soat1 |
A |
C |
1: 156,261,766 (GRCm39) |
V414G |
probably damaging |
Het |
St18 |
A |
T |
1: 6,903,818 (GRCm39) |
E693V |
probably damaging |
Het |
Svil |
T |
C |
18: 5,063,555 (GRCm39) |
V1029A |
probably benign |
Het |
Tnfaip3 |
C |
A |
10: 18,880,874 (GRCm39) |
V398L |
probably damaging |
Het |
Ubap1 |
A |
G |
4: 41,379,562 (GRCm39) |
T259A |
probably benign |
Het |
Wdr7 |
A |
G |
18: 64,060,398 (GRCm39) |
E1347G |
possibly damaging |
Het |
|
Other mutations in Camkmt |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00433:Camkmt
|
APN |
17 |
85,404,094 (GRCm39) |
splice site |
probably benign |
|
IGL00786:Camkmt
|
APN |
17 |
85,403,919 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02604:Camkmt
|
APN |
17 |
85,404,053 (GRCm39) |
missense |
possibly damaging |
0.74 |
IGL02809:Camkmt
|
APN |
17 |
85,702,076 (GRCm39) |
missense |
probably damaging |
1.00 |
R0465:Camkmt
|
UTSW |
17 |
85,738,950 (GRCm39) |
missense |
probably damaging |
0.99 |
R0537:Camkmt
|
UTSW |
17 |
85,702,087 (GRCm39) |
missense |
probably benign |
0.01 |
R1573:Camkmt
|
UTSW |
17 |
85,403,958 (GRCm39) |
missense |
probably damaging |
0.98 |
R2442:Camkmt
|
UTSW |
17 |
85,398,203 (GRCm39) |
missense |
possibly damaging |
0.51 |
R2878:Camkmt
|
UTSW |
17 |
85,738,979 (GRCm39) |
splice site |
probably benign |
|
R5121:Camkmt
|
UTSW |
17 |
85,404,009 (GRCm39) |
missense |
probably benign |
0.00 |
R5174:Camkmt
|
UTSW |
17 |
85,759,665 (GRCm39) |
missense |
probably benign |
|
R6006:Camkmt
|
UTSW |
17 |
85,759,666 (GRCm39) |
missense |
possibly damaging |
0.71 |
R6587:Camkmt
|
UTSW |
17 |
85,421,243 (GRCm39) |
missense |
possibly damaging |
0.74 |
R6726:Camkmt
|
UTSW |
17 |
85,702,037 (GRCm39) |
missense |
probably damaging |
0.98 |
R7301:Camkmt
|
UTSW |
17 |
85,738,921 (GRCm39) |
missense |
probably benign |
0.10 |
R7523:Camkmt
|
UTSW |
17 |
85,699,056 (GRCm39) |
missense |
probably benign |
0.01 |
R7911:Camkmt
|
UTSW |
17 |
85,759,866 (GRCm39) |
splice site |
probably null |
|
R8341:Camkmt
|
UTSW |
17 |
85,747,008 (GRCm39) |
missense |
probably damaging |
1.00 |
R8691:Camkmt
|
UTSW |
17 |
85,421,260 (GRCm39) |
missense |
probably damaging |
1.00 |
R8710:Camkmt
|
UTSW |
17 |
85,421,277 (GRCm39) |
critical splice donor site |
probably benign |
|
R9049:Camkmt
|
UTSW |
17 |
85,709,912 (GRCm39) |
missense |
possibly damaging |
0.68 |
R9119:Camkmt
|
UTSW |
17 |
85,403,988 (GRCm39) |
missense |
probably damaging |
1.00 |
R9652:Camkmt
|
UTSW |
17 |
85,759,713 (GRCm39) |
missense |
probably benign |
0.04 |
|
Posted On |
2012-12-06 |