Incidental Mutation 'IGL00786:Camkmt'
| ID |
13242 |
| 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 # |
IGL00786
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
85397989-85766017 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 85403919 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 47
(V47A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000092811
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095188]
|
| AlphaFold |
Q3U2J5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000095188
AA Change: V47A
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000092811
Gene: ENSMUSG00000071037
AA Change: V47A
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930402F06Rik |
T |
C |
2: 35,265,851 (GRCm39) |
N242S |
probably benign |
Het |
| Akap9 |
C |
A |
5: 4,120,522 (GRCm39) |
A3646E |
probably damaging |
Het |
| Akt1 |
C |
A |
12: 112,624,105 (GRCm39) |
G233V |
probably damaging |
Het |
| B3gat3 |
A |
G |
19: 8,904,149 (GRCm39) |
E320G |
probably benign |
Het |
| Bltp3a |
T |
A |
17: 28,098,266 (GRCm39) |
I136N |
probably damaging |
Het |
| Bpifa5 |
G |
A |
2: 154,009,172 (GRCm39) |
C238Y |
probably damaging |
Het |
| Ccnl2 |
C |
T |
4: 155,905,337 (GRCm39) |
R284W |
probably damaging |
Het |
| Chl1 |
G |
T |
6: 103,652,106 (GRCm39) |
V341F |
probably damaging |
Het |
| Cst3 |
A |
T |
2: 148,714,797 (GRCm39) |
C93* |
probably null |
Het |
| Ctsh |
T |
C |
9: 89,946,291 (GRCm39) |
V119A |
probably damaging |
Het |
| Dmap1 |
C |
T |
4: 117,533,593 (GRCm39) |
R225Q |
possibly damaging |
Het |
| Ehbp1 |
A |
G |
11: 22,050,460 (GRCm39) |
S479P |
possibly damaging |
Het |
| Eml2 |
A |
G |
7: 18,936,507 (GRCm39) |
Y528C |
probably damaging |
Het |
| Faim |
G |
A |
9: 98,874,218 (GRCm39) |
G15R |
probably damaging |
Het |
| G6pc3 |
A |
G |
11: 102,083,931 (GRCm39) |
M186V |
probably benign |
Het |
| Gpr37 |
A |
G |
6: 25,669,317 (GRCm39) |
V509A |
possibly damaging |
Het |
| Heatr5b |
G |
T |
17: 79,132,063 (GRCm39) |
H347N |
possibly damaging |
Het |
| Idh1 |
A |
G |
1: 65,205,402 (GRCm39) |
S188P |
probably damaging |
Het |
| Mphosph8 |
T |
C |
14: 56,910,001 (GRCm39) |
V118A |
probably benign |
Het |
| Mthfsd |
C |
T |
8: 121,831,207 (GRCm39) |
R91Q |
probably damaging |
Het |
| Otor |
G |
A |
2: 142,921,846 (GRCm39) |
V86I |
probably damaging |
Het |
| Pdk2 |
T |
A |
11: 94,922,761 (GRCm39) |
T140S |
probably benign |
Het |
| Pnliprp2 |
A |
G |
19: 58,748,929 (GRCm39) |
N78S |
probably benign |
Het |
| Rimbp3 |
C |
T |
16: 17,029,552 (GRCm39) |
T992M |
probably damaging |
Het |
| Sdad1 |
A |
T |
5: 92,451,632 (GRCm39) |
|
probably null |
Het |
| Sidt2 |
A |
G |
9: 45,861,101 (GRCm39) |
S71P |
possibly damaging |
Het |
| Slc44a2 |
T |
A |
9: 21,257,231 (GRCm39) |
V390E |
probably damaging |
Het |
| Tmem168 |
T |
C |
6: 13,602,674 (GRCm39) |
I231V |
probably benign |
Het |
| Vim |
T |
C |
2: 13,583,321 (GRCm39) |
|
probably null |
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 |
|
|
IGL00840:Camkmt
|
APN |
17 |
85,765,551 (GRCm39) |
nonsense |
probably null |
|
|
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 |
Incidental Mutation