Incidental Mutation 'IGL00433:Camk1g'
| ID |
9362 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Camk1g
|
| Ensembl Gene |
ENSMUSG00000016179 |
| Gene Name |
calcium/calmodulin-dependent protein kinase I gamma |
| Synonyms |
CLICK-III, CaMKIgamma |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.093)
|
| Stock # |
IGL00433
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
193028654-193052606 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
T to C
at 193029657 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142053
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000016315]
[ENSMUST00000016323]
[ENSMUST00000159955]
[ENSMUST00000169907]
[ENSMUST00000194677]
|
| AlphaFold |
Q91VB2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000016315
|
| SMART Domains |
Protein: ENSMUSP00000016315
Gene: ENSMUSG00000026639
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
LamNT
|
20 |
248 |
7.63e-84 |
SMART |
|
EGF_Lam
|
250 |
310 |
1.67e-7 |
SMART |
|
EGF_Lam
|
313 |
373 |
1.14e-9 |
SMART |
|
EGF_Lam
|
376 |
425 |
5.56e-13 |
SMART |
|
EGF_Lam
|
428 |
475 |
6.05e-14 |
SMART |
|
EGF_Lam
|
478 |
528 |
5e-6 |
SMART |
|
EGF_Lam
|
531 |
575 |
3.01e-9 |
SMART |
|
low complexity region
|
662 |
673 |
N/A |
INTRINSIC |
|
low complexity region
|
727 |
763 |
N/A |
INTRINSIC |
|
coiled coil region
|
830 |
879 |
N/A |
INTRINSIC |
|
coiled coil region
|
949 |
979 |
N/A |
INTRINSIC |
|
coiled coil region
|
1037 |
1090 |
N/A |
INTRINSIC |
|
low complexity region
|
1116 |
1126 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000016323
|
| SMART Domains |
Protein: ENSMUSP00000016323
Gene: ENSMUSG00000016179
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
23 |
277 |
9.53e-112 |
SMART |
|
low complexity region
|
376 |
389 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159955
|
| SMART Domains |
Protein: ENSMUSP00000123875
Gene: ENSMUSG00000026639
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
LamNT
|
20 |
248 |
7.63e-84 |
SMART |
|
EGF_Lam
|
250 |
310 |
1.67e-7 |
SMART |
|
EGF_Lam
|
313 |
373 |
1.14e-9 |
SMART |
|
EGF_Lam
|
376 |
425 |
5.56e-13 |
SMART |
|
EGF_Lam
|
428 |
475 |
6.05e-14 |
SMART |
|
EGF_Lam
|
478 |
528 |
5e-6 |
SMART |
|
EGF_Lam
|
531 |
575 |
3.01e-9 |
SMART |
|
low complexity region
|
662 |
673 |
N/A |
INTRINSIC |
|
low complexity region
|
727 |
763 |
N/A |
INTRINSIC |
|
coiled coil region
|
830 |
879 |
N/A |
INTRINSIC |
|
coiled coil region
|
949 |
979 |
N/A |
INTRINSIC |
|
coiled coil region
|
1037 |
1090 |
N/A |
INTRINSIC |
|
low complexity region
|
1116 |
1126 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163202
|
| SMART Domains |
Protein: ENSMUSP00000131451
Gene: ENSMUSG00000016179
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
2 |
238 |
5.19e-72 |
SMART |
|
| Predicted Effect |
silent
Transcript: ENSMUST00000169907
|
| SMART Domains |
Protein: ENSMUSP00000128143
Gene: ENSMUSG00000016179
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
23 |
277 |
9.53e-112 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000194677
|
| SMART Domains |
Protein: ENSMUSP00000142053
Gene: ENSMUSG00000026639
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
LamNT
|
20 |
248 |
7.63e-84 |
SMART |
|
EGF_Lam
|
250 |
310 |
1.67e-7 |
SMART |
|
EGF_Lam
|
313 |
373 |
1.14e-9 |
SMART |
|
EGF_Lam
|
376 |
425 |
5.56e-13 |
SMART |
|
EGF_Lam
|
428 |
475 |
6.05e-14 |
SMART |
|
EGF_Lam
|
478 |
528 |
5e-6 |
SMART |
|
EGF_Lam
|
531 |
575 |
3.01e-9 |
SMART |
|
low complexity region
|
662 |
673 |
N/A |
INTRINSIC |
|
low complexity region
|
727 |
763 |
N/A |
INTRINSIC |
|
coiled coil region
|
830 |
879 |
N/A |
INTRINSIC |
|
coiled coil region
|
949 |
979 |
N/A |
INTRINSIC |
|
coiled coil region
|
1037 |
1090 |
N/A |
INTRINSIC |
|
low complexity region
|
1116 |
1126 |
N/A |
INTRINSIC |
|
| 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 protein similar to calcium/calmodulin dependent protein kinase, however, its exact function is not known. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired dendritogenesis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts20 |
G |
A |
15: 94,292,522 (GRCm39) |
A196V |
probably benign |
Het |
| BC024139 |
A |
G |
15: 76,009,300 (GRCm39) |
V238A |
probably benign |
Het |
| Bfar |
G |
A |
16: 13,516,827 (GRCm39) |
D350N |
probably benign |
Het |
| C4b |
A |
T |
17: 34,961,015 (GRCm39) |
F217Y |
possibly damaging |
Het |
| Camkmt |
A |
G |
17: 85,404,094 (GRCm39) |
|
probably benign |
Het |
| Cass4 |
T |
C |
2: 172,258,170 (GRCm39) |
L56P |
probably damaging |
Het |
| Ccs |
A |
G |
19: 4,875,636 (GRCm39) |
I243T |
possibly damaging |
Het |
| Cds2 |
T |
C |
2: 132,139,213 (GRCm39) |
V152A |
probably damaging |
Het |
| Chd1l |
T |
C |
3: 97,497,921 (GRCm39) |
N307D |
probably damaging |
Het |
| Cmtm2b |
T |
C |
8: 105,057,078 (GRCm39) |
I146T |
possibly damaging |
Het |
| Cntnap3 |
T |
C |
13: 64,920,545 (GRCm39) |
Y608C |
probably damaging |
Het |
| Cog5 |
A |
G |
12: 31,735,703 (GRCm39) |
R157G |
probably damaging |
Het |
| Csmd1 |
A |
C |
8: 16,281,387 (GRCm39) |
F713V |
probably damaging |
Het |
| Csrp3 |
T |
C |
7: 48,480,440 (GRCm39) |
N175D |
probably benign |
Het |
| Exoc4 |
A |
G |
6: 33,273,723 (GRCm39) |
D176G |
probably damaging |
Het |
| Fbxo10 |
T |
C |
4: 45,058,684 (GRCm39) |
D351G |
probably damaging |
Het |
| Gm12185 |
A |
T |
11: 48,798,049 (GRCm39) |
S815T |
probably benign |
Het |
| Gpld1 |
A |
G |
13: 25,170,905 (GRCm39) |
|
probably benign |
Het |
| Hspa2 |
T |
C |
12: 76,453,123 (GRCm39) |
C606R |
possibly damaging |
Het |
| Leo1 |
C |
T |
9: 75,357,762 (GRCm39) |
|
probably benign |
Het |
| Mta3 |
C |
T |
17: 84,015,861 (GRCm39) |
P21L |
probably damaging |
Het |
| Pkn1 |
T |
C |
8: 84,407,635 (GRCm39) |
E471G |
probably damaging |
Het |
| Postn |
C |
T |
3: 54,281,149 (GRCm39) |
R425C |
probably damaging |
Het |
| Reln |
A |
G |
5: 22,250,007 (GRCm39) |
L676P |
probably damaging |
Het |
| Sin3a |
G |
A |
9: 57,005,185 (GRCm39) |
V362M |
probably damaging |
Het |
| Slc6a7 |
C |
T |
18: 61,134,363 (GRCm39) |
|
probably null |
Het |
| Smc6 |
A |
T |
12: 11,349,264 (GRCm39) |
D749V |
possibly damaging |
Het |
| Smg5 |
C |
T |
3: 88,258,735 (GRCm39) |
Q569* |
probably null |
Het |
| Sspo |
G |
A |
6: 48,466,970 (GRCm39) |
C4130Y |
probably damaging |
Het |
| Tlcd3a |
T |
C |
11: 76,098,817 (GRCm39) |
F164L |
probably damaging |
Het |
| Tnn |
A |
T |
1: 159,925,776 (GRCm39) |
|
probably benign |
Het |
| Tomt |
C |
T |
7: 101,551,393 (GRCm39) |
R29H |
probably benign |
Het |
| Uggt2 |
A |
T |
14: 119,250,899 (GRCm39) |
D1199E |
probably benign |
Het |
| Usp33 |
A |
G |
3: 152,079,046 (GRCm39) |
K433E |
probably benign |
Het |
| Vmn2r89 |
A |
G |
14: 51,692,422 (GRCm39) |
Y75C |
probably damaging |
Het |
| Wnt7a |
C |
T |
6: 91,342,973 (GRCm39) |
G303D |
probably damaging |
Het |
|
| Other mutations in Camk1g |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02637:Camk1g
|
APN |
1 |
193,030,696 (GRCm39) |
missense |
probably benign |
0.38 |
|
G1patch:Camk1g
|
UTSW |
1 |
193,032,628 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
I2288:Camk1g
|
UTSW |
1 |
193,033,414 (GRCm39) |
splice site |
probably benign |
|
|
R0375:Camk1g
|
UTSW |
1 |
193,038,709 (GRCm39) |
splice site |
probably benign |
|
|
R0433:Camk1g
|
UTSW |
1 |
193,036,366 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0967:Camk1g
|
UTSW |
1 |
193,032,604 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1161:Camk1g
|
UTSW |
1 |
193,030,662 (GRCm39) |
missense |
probably benign |
|
|
R1227:Camk1g
|
UTSW |
1 |
193,029,741 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R1469:Camk1g
|
UTSW |
1 |
193,044,399 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1469:Camk1g
|
UTSW |
1 |
193,044,399 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1641:Camk1g
|
UTSW |
1 |
193,038,665 (GRCm39) |
missense |
probably benign |
0.25 |
|
R3109:Camk1g
|
UTSW |
1 |
193,037,301 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3160:Camk1g
|
UTSW |
1 |
193,042,115 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R3161:Camk1g
|
UTSW |
1 |
193,042,115 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R3162:Camk1g
|
UTSW |
1 |
193,042,115 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R3162:Camk1g
|
UTSW |
1 |
193,042,115 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R4638:Camk1g
|
UTSW |
1 |
193,038,667 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4642:Camk1g
|
UTSW |
1 |
193,038,667 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4644:Camk1g
|
UTSW |
1 |
193,038,667 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4756:Camk1g
|
UTSW |
1 |
193,044,393 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4781:Camk1g
|
UTSW |
1 |
193,038,652 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4987:Camk1g
|
UTSW |
1 |
193,030,783 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5224:Camk1g
|
UTSW |
1 |
193,037,342 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5407:Camk1g
|
UTSW |
1 |
193,029,680 (GRCm39) |
splice site |
probably null |
|
|
R5932:Camk1g
|
UTSW |
1 |
193,036,347 (GRCm39) |
missense |
probably benign |
0.25 |
|
R6725:Camk1g
|
UTSW |
1 |
193,032,628 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R7071:Camk1g
|
UTSW |
1 |
193,042,117 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7808:Camk1g
|
UTSW |
1 |
193,032,593 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R7908:Camk1g
|
UTSW |
1 |
193,042,082 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8135:Camk1g
|
UTSW |
1 |
193,036,335 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R8355:Camk1g
|
UTSW |
1 |
193,033,355 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8737:Camk1g
|
UTSW |
1 |
193,030,794 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R8811:Camk1g
|
UTSW |
1 |
193,044,408 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9506:Camk1g
|
UTSW |
1 |
193,030,363 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9680:Camk1g
|
UTSW |
1 |
193,030,483 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9688:Camk1g
|
UTSW |
1 |
193,031,029 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Camk1g
|
UTSW |
1 |
193,044,408 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2012-12-06 |
Incidental Mutation