Incidental Mutation 'R2442:Camkmt'
| ID |
249845 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Camkmt
|
| Ensembl Gene |
ENSMUSG00000071037 |
| Gene Name |
calmodulin-lysine N-methyltransferase |
| Synonyms |
1700106N22Rik |
| MMRRC Submission |
040400-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2442 (G1)
|
| Quality Score |
128 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
85397989-85766017 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 85398203 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Glutamic Acid
at position 17
(A17E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000092811
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072406]
[ENSMUST00000095188]
[ENSMUST00000171795]
|
| AlphaFold |
Q3U2J5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000072406
|
| SMART Domains |
Protein: ENSMUSP00000072239
Gene: ENSMUSG00000024127
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Peptidase_S9_N
|
15 |
339 |
7.4e-28 |
PFAM |
|
Pfam:Peptidase_S9
|
399 |
623 |
1.3e-35 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000095188
AA Change: A17E
PolyPhen 2
Score 0.513 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000092811
Gene: ENSMUSG00000071037
AA Change: A17E
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171795
|
| SMART Domains |
Protein: ENSMUSP00000130967
Gene: ENSMUSG00000024127
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Peptidase_S9_N
|
86 |
428 |
5.2e-30 |
PFAM |
|
Pfam:Peptidase_S9
|
486 |
710 |
2e-35 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca17 |
A |
G |
17: 24,547,606 (GRCm39) |
V256A |
probably benign |
Het |
| Acap1 |
T |
C |
11: 69,780,317 (GRCm39) |
N42S |
possibly damaging |
Het |
| Apoo-ps |
C |
A |
13: 107,551,140 (GRCm39) |
|
noncoding transcript |
Het |
| Bri3 |
C |
T |
5: 144,181,411 (GRCm39) |
T39I |
probably benign |
Het |
| Bsn |
A |
G |
9: 107,984,119 (GRCm39) |
S3312P |
unknown |
Het |
| Cc2d2a |
G |
T |
5: 43,828,647 (GRCm39) |
|
probably null |
Het |
| Ccdc122 |
G |
T |
14: 77,329,398 (GRCm39) |
M150I |
possibly damaging |
Het |
| Celf4 |
A |
G |
18: 25,886,516 (GRCm39) |
F57L |
probably damaging |
Het |
| Cep192 |
T |
A |
18: 67,957,759 (GRCm39) |
F564Y |
possibly damaging |
Het |
| Ces1c |
T |
C |
8: 93,849,840 (GRCm39) |
D38G |
probably damaging |
Het |
| Cts7 |
C |
A |
13: 61,503,431 (GRCm39) |
G178* |
probably null |
Het |
| Dcc |
A |
T |
18: 71,589,954 (GRCm39) |
Y681N |
probably damaging |
Het |
| Dhx29 |
A |
G |
13: 113,083,508 (GRCm39) |
E521G |
possibly damaging |
Het |
| Dnase2a |
T |
C |
8: 85,635,622 (GRCm39) |
V35A |
probably damaging |
Het |
| Eif3l |
A |
G |
15: 78,969,807 (GRCm39) |
M268V |
probably damaging |
Het |
| Foxc1 |
A |
G |
13: 31,992,781 (GRCm39) |
M531V |
unknown |
Het |
| Grin2c |
A |
G |
11: 115,141,960 (GRCm39) |
Y820H |
probably damaging |
Het |
| Ifit1bl1 |
G |
A |
19: 34,572,289 (GRCm39) |
A56V |
probably benign |
Het |
| Iqsec1 |
T |
C |
6: 90,666,865 (GRCm39) |
E524G |
possibly damaging |
Het |
| Kcnt2 |
A |
G |
1: 140,304,091 (GRCm39) |
I154V |
possibly damaging |
Het |
| Kdm1b |
T |
A |
13: 47,216,451 (GRCm39) |
Y274N |
probably benign |
Het |
| Kntc1 |
T |
A |
5: 123,948,922 (GRCm39) |
L1889Q |
probably damaging |
Het |
| Lama1 |
A |
G |
17: 68,075,312 (GRCm39) |
T1010A |
probably benign |
Het |
| Mmp11 |
T |
C |
10: 75,763,079 (GRCm39) |
N171S |
probably benign |
Het |
| Myom1 |
A |
G |
17: 71,417,730 (GRCm39) |
E1409G |
probably damaging |
Het |
| N4bp1 |
A |
G |
8: 87,588,668 (GRCm39) |
I90T |
probably damaging |
Het |
| Or4c52 |
T |
C |
2: 89,845,685 (GRCm39) |
V137A |
probably benign |
Het |
| Plcb4 |
T |
C |
2: 135,792,302 (GRCm39) |
S342P |
probably damaging |
Het |
| Plg |
A |
G |
17: 12,629,847 (GRCm39) |
E627G |
probably benign |
Het |
| Rsf1 |
CG |
CGACGGCGGAG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Het |
| Sla2 |
G |
A |
2: 156,717,862 (GRCm39) |
R137C |
probably damaging |
Het |
| Slc7a14 |
A |
G |
3: 31,284,469 (GRCm39) |
I289T |
probably damaging |
Het |
| Srpra |
G |
A |
9: 35,123,297 (GRCm39) |
G43S |
possibly damaging |
Het |
| Tbc1d9 |
T |
C |
8: 83,892,705 (GRCm39) |
M1T |
probably null |
Het |
| Tcte2 |
A |
T |
17: 13,934,339 (GRCm39) |
I90N |
possibly damaging |
Het |
| Trim30c |
G |
A |
7: 104,031,481 (GRCm39) |
P445S |
probably damaging |
Het |
| Trrap |
A |
G |
5: 144,754,776 (GRCm39) |
Q1984R |
probably damaging |
Het |
| Ubn2 |
T |
C |
6: 38,467,940 (GRCm39) |
S885P |
probably benign |
Het |
| Unc45a |
A |
G |
7: 79,989,417 (GRCm39) |
F17S |
probably damaging |
Het |
| Uts2b |
C |
T |
16: 27,179,782 (GRCm39) |
V75I |
probably benign |
Het |
| Vmn2r103 |
A |
G |
17: 19,993,793 (GRCm39) |
K57E |
probably benign |
Het |
| Vmn2r82 |
A |
G |
10: 79,221,210 (GRCm39) |
S524G |
probably 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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TACCGGAAATGCGGAATTCGG -3'
(R):5'- TGAGTTTCTGAGAGCTCGCTC -3'
Sequencing Primer
(F):5'- ATTCGGGGAGGGTGCAC -3'
(R):5'- CAGAGTCTCTCCCATTTTTGGTGG -3'
|
| Posted On |
2014-11-12 |
Incidental Mutation