Incidental Mutation 'R2342:Camk1'
| ID |
318107 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Camk1
|
| Ensembl Gene |
ENSMUSG00000030272 |
| Gene Name |
calcium/calmodulin-dependent protein kinase I |
| Synonyms |
CaMKIalpha, D6Ertd263e, Camk |
| MMRRC Submission |
040328-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2342 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
113311085-113320883 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 113318942 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117749
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032409]
[ENSMUST00000155543]
|
| AlphaFold |
Q91YS8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000032409
|
| SMART Domains |
Protein: ENSMUSP00000032409
Gene: ENSMUSG00000030272
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
20 |
276 |
5.03e-111 |
SMART |
|
low complexity region
|
319 |
336 |
N/A |
INTRINSIC |
|
low complexity region
|
358 |
370 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149497
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155543
|
| SMART Domains |
Protein: ENSMUSP00000117749
Gene: ENSMUSG00000030272
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase
|
8 |
162 |
1.4e-45 |
PFAM |
|
Pfam:Pkinase_Tyr
|
9 |
162 |
1.7e-23 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156512
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156853
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.2%
|
| Validation Efficiency |
100% (39/39) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Calcium/calmodulin-dependent protein kinase I is expressed in many tissues and is a component of a calmodulin-dependent protein kinase cascade. Calcium/calmodulin directly activates calcium/calmodulin-dependent protein kinase I by binding to the enzyme and indirectly promotes the phosphorylation and synergistic activation of the enzyme by calcium/calmodulin-dependent protein kinase I kinase. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgef28 |
C |
T |
13: 98,130,537 (GRCm39) |
E434K |
probably benign |
Het |
| Babam1 |
T |
A |
8: 71,855,515 (GRCm39) |
M236K |
probably benign |
Het |
| Chd8 |
A |
C |
14: 52,442,674 (GRCm39) |
N625K |
probably benign |
Het |
| Dcaf8 |
A |
G |
1: 172,013,928 (GRCm39) |
H373R |
possibly damaging |
Het |
| Dscam |
G |
A |
16: 96,420,702 (GRCm39) |
T1728M |
probably damaging |
Het |
| Elf1 |
T |
C |
14: 79,802,896 (GRCm39) |
|
probably benign |
Het |
| Epha2 |
C |
T |
4: 141,050,842 (GRCm39) |
A866V |
probably benign |
Het |
| Frmd6 |
C |
A |
12: 70,930,592 (GRCm39) |
Y237* |
probably null |
Het |
| Glg1 |
A |
T |
8: 111,914,439 (GRCm39) |
C448* |
probably null |
Het |
| Gm4787 |
G |
T |
12: 81,425,532 (GRCm39) |
R209S |
possibly damaging |
Het |
| Hhipl1 |
T |
C |
12: 108,284,721 (GRCm39) |
L358P |
probably damaging |
Het |
| Hmgxb3 |
G |
A |
18: 61,296,063 (GRCm39) |
T315I |
possibly damaging |
Het |
| Irak2 |
C |
A |
6: 113,670,632 (GRCm39) |
T539K |
probably benign |
Het |
| Lrp1b |
C |
A |
2: 40,809,208 (GRCm39) |
G2568C |
possibly damaging |
Het |
| Meis1 |
C |
T |
11: 18,831,647 (GRCm39) |
A464T |
probably damaging |
Het |
| Or10g1b |
C |
A |
14: 52,627,322 (GRCm39) |
A303S |
possibly damaging |
Het |
| Or6a2 |
T |
C |
7: 106,600,116 (GRCm39) |
D317G |
probably benign |
Het |
| Orc4 |
A |
G |
2: 48,817,152 (GRCm39) |
S179P |
probably damaging |
Het |
| Plxna2 |
C |
T |
1: 194,431,625 (GRCm39) |
S538F |
probably damaging |
Het |
| Pnliprp1 |
A |
G |
19: 58,729,691 (GRCm39) |
|
probably benign |
Het |
| Prpf40b |
T |
A |
15: 99,204,049 (GRCm39) |
V174D |
probably damaging |
Het |
| Rnf169 |
T |
C |
7: 99,574,652 (GRCm39) |
K648E |
possibly damaging |
Het |
| Rtf1 |
A |
G |
2: 119,542,598 (GRCm39) |
T301A |
probably benign |
Het |
| Sdccag8 |
T |
C |
1: 176,747,207 (GRCm39) |
V528A |
probably benign |
Het |
| Sgsh |
A |
G |
11: 119,238,540 (GRCm39) |
V308A |
probably benign |
Het |
| Shmt2 |
A |
G |
10: 127,354,680 (GRCm39) |
V335A |
possibly damaging |
Het |
| Skint6 |
T |
A |
4: 113,034,180 (GRCm39) |
T316S |
probably benign |
Het |
| Tbl2 |
G |
A |
5: 135,187,607 (GRCm39) |
R288Q |
possibly damaging |
Het |
| Ttc3 |
C |
T |
16: 94,232,857 (GRCm39) |
P1003L |
probably damaging |
Het |
| Usp34 |
A |
G |
11: 23,353,599 (GRCm39) |
K1469E |
possibly damaging |
Het |
| Virma |
T |
C |
4: 11,501,316 (GRCm39) |
Y92H |
probably damaging |
Het |
| Vmn2r112 |
T |
A |
17: 22,822,096 (GRCm39) |
V258E |
probably damaging |
Het |
| Wnt16 |
A |
G |
6: 22,288,923 (GRCm39) |
E80G |
probably damaging |
Het |
| Zbtb10 |
C |
T |
3: 9,330,255 (GRCm39) |
P538S |
possibly damaging |
Het |
| Zup1 |
G |
A |
10: 33,804,113 (GRCm39) |
H454Y |
probably damaging |
Het |
|
| Other mutations in Camk1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00499:Camk1
|
APN |
6 |
113,313,172 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01063:Camk1
|
APN |
6 |
113,315,333 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0415:Camk1
|
UTSW |
6 |
113,318,852 (GRCm39) |
nonsense |
probably null |
|
|
R0944:Camk1
|
UTSW |
6 |
113,315,352 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5646:Camk1
|
UTSW |
6 |
113,316,301 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6734:Camk1
|
UTSW |
6 |
113,311,345 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6749:Camk1
|
UTSW |
6 |
113,311,486 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7015:Camk1
|
UTSW |
6 |
113,318,887 (GRCm39) |
missense |
probably benign |
|
|
R7041:Camk1
|
UTSW |
6 |
113,316,475 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7355:Camk1
|
UTSW |
6 |
113,315,307 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7575:Camk1
|
UTSW |
6 |
113,315,325 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7686:Camk1
|
UTSW |
6 |
113,313,158 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7748:Camk1
|
UTSW |
6 |
113,317,289 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8725:Camk1
|
UTSW |
6 |
113,315,109 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9622:Camk1
|
UTSW |
6 |
113,318,850 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGCCCTGGTCTGTAGGAAAG -3'
(R):5'- GATCTTTTGCAAACATGCTGAGTG -3'
Sequencing Primer
(F):5'- TCGTGAGCTGACCAGAGG -3'
(R):5'- TGCAAACATGCTGAGTGAACATATG -3'
|
| Posted On |
2015-06-03 |
Incidental Mutation