Incidental Mutation 'IGL00499:Camk1'
ID |
5392 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Camk1
|
Ensembl Gene |
ENSMUSG00000030272 |
Gene Name |
calcium/calmodulin-dependent protein kinase I |
Synonyms |
CaMKIalpha, D6Ertd263e, Camk |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL00499
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
113311085-113320883 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 113313172 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 292
(E292G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000032409
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032406]
[ENSMUST00000032409]
[ENSMUST00000136263]
[ENSMUST00000204834]
[ENSMUST00000155543]
|
AlphaFold |
Q91YS8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000032406
|
SMART Domains |
Protein: ENSMUSP00000032406 Gene: ENSMUSG00000030271
Domain | Start | End | E-Value | Type |
Pfam:OGG_N
|
25 |
141 |
4e-38 |
PFAM |
ENDO3c
|
146 |
316 |
4.84e-35 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000032409
AA Change: E292G
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000032409 Gene: ENSMUSG00000030272 AA Change: E292G
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 |
probably benign
Transcript: ENSMUST00000136263
|
SMART Domains |
Protein: ENSMUSP00000144792 Gene: ENSMUSG00000030271
Domain | Start | End | E-Value | Type |
Pfam:OGG_N
|
25 |
130 |
3e-27 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147945
|
SMART Domains |
Protein: ENSMUSP00000116265 Gene: ENSMUSG00000030271
Domain | Start | End | E-Value | Type |
Blast:ENDO3c
|
7 |
75 |
7e-46 |
BLAST |
PDB:1KO9|A
|
7 |
104 |
1e-55 |
PDB |
SCOP:d1ko9a1
|
8 |
82 |
1e-22 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149497
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153067
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000204834
|
SMART Domains |
Protein: ENSMUSP00000144905 Gene: ENSMUSG00000030271
Domain | Start | End | E-Value | Type |
Pfam:OGG_N
|
25 |
134 |
1.2e-27 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156512
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156853
|
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 |
|
Coding Region Coverage |
|
Validation Efficiency |
|
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: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930533K18Rik |
C |
A |
10: 70,711,138 (GRCm39) |
|
noncoding transcript |
Het |
Abcb9 |
T |
C |
5: 124,215,301 (GRCm39) |
D480G |
possibly damaging |
Het |
Adam26a |
A |
T |
8: 44,021,896 (GRCm39) |
N531K |
possibly damaging |
Het |
AW554918 |
A |
T |
18: 25,553,122 (GRCm39) |
K542* |
probably null |
Het |
Blk |
A |
G |
14: 63,618,169 (GRCm39) |
F246L |
probably damaging |
Het |
Ccdc88a |
C |
T |
11: 29,449,341 (GRCm39) |
T261I |
probably benign |
Het |
Cep290 |
A |
T |
10: 100,379,189 (GRCm39) |
Q57L |
probably damaging |
Het |
Cpsf1 |
A |
T |
15: 76,484,416 (GRCm39) |
H688Q |
probably benign |
Het |
Cryz |
T |
C |
3: 154,310,579 (GRCm39) |
V13A |
possibly damaging |
Het |
Dst |
A |
G |
1: 34,329,504 (GRCm39) |
K6858R |
probably damaging |
Het |
Dync2h1 |
A |
T |
9: 7,168,700 (GRCm39) |
V371E |
possibly damaging |
Het |
Eps8 |
C |
A |
6: 137,499,886 (GRCm39) |
E181* |
probably null |
Het |
Flt4 |
T |
C |
11: 49,526,088 (GRCm39) |
I796T |
probably damaging |
Het |
Gmps |
A |
G |
3: 63,921,788 (GRCm39) |
N597S |
probably benign |
Het |
Itgav |
T |
A |
2: 83,633,339 (GRCm39) |
M1011K |
probably damaging |
Het |
Kif16b |
A |
G |
2: 142,699,244 (GRCm39) |
M112T |
probably damaging |
Het |
Lig1 |
T |
C |
7: 13,032,756 (GRCm39) |
|
probably null |
Het |
Lrrc30 |
A |
G |
17: 67,939,034 (GRCm39) |
F182S |
probably damaging |
Het |
Oxsm |
A |
T |
14: 16,242,076 (GRCm38) |
M231K |
probably damaging |
Het |
Pnisr |
T |
C |
4: 21,870,407 (GRCm39) |
|
probably null |
Het |
Rsrc1 |
A |
T |
3: 66,989,933 (GRCm39) |
|
probably benign |
Het |
Setd1b |
A |
T |
5: 123,296,810 (GRCm39) |
|
probably benign |
Het |
Tbx6 |
A |
G |
7: 126,380,701 (GRCm39) |
Y8C |
probably damaging |
Het |
Tmem33 |
T |
C |
5: 67,441,538 (GRCm39) |
Y196H |
probably damaging |
Het |
Traf5 |
T |
C |
1: 191,741,589 (GRCm39) |
D96G |
possibly damaging |
Het |
Tsc22d1 |
T |
A |
14: 76,656,357 (GRCm39) |
D945E |
probably damaging |
Het |
Tubb2b |
T |
C |
13: 34,312,329 (GRCm39) |
I155V |
probably benign |
Het |
Usp13 |
T |
A |
3: 32,935,560 (GRCm39) |
Y328N |
probably damaging |
Het |
Usp17lc |
G |
A |
7: 103,067,673 (GRCm39) |
D323N |
probably damaging |
Het |
Usp17lc |
G |
A |
7: 103,067,672 (GRCm39) |
M322I |
probably damaging |
Het |
Zfp341 |
C |
T |
2: 154,476,151 (GRCm39) |
T446I |
probably damaging |
Het |
Zfp407 |
A |
G |
18: 84,579,877 (GRCm39) |
L412P |
probably damaging |
Het |
Zfp521 |
T |
A |
18: 14,072,177 (GRCm39) |
D21V |
probably benign |
Het |
Zranb1 |
A |
G |
7: 132,584,233 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Camk1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
R2342:Camk1
|
UTSW |
6 |
113,318,942 (GRCm39) |
splice site |
probably benign |
|
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 |
|
Posted On |
2012-04-20 |