Incidental Mutation 'R1161:Camk1g'
ID |
100385 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Camk1g
|
Ensembl Gene |
ENSMUSG00000016179 |
Gene Name |
calcium/calmodulin-dependent protein kinase I gamma |
Synonyms |
CLICK-III, CaMKIgamma |
MMRRC Submission |
039234-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.101)
|
Stock # |
R1161 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
193028654-193052606 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 193030662 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 349
(D349G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000016323
(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
AA Change: D349G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000016323 Gene: ENSMUSG00000016179 AA Change: D349G
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 |
probably benign
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 |
- 1x: 99.5%
- 3x: 98.4%
- 10x: 95.7%
- 20x: 89.6%
|
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: 26 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Bcl10 |
T |
G |
3: 145,636,180 (GRCm39) |
V26G |
probably damaging |
Het |
C4b |
A |
G |
17: 34,948,567 (GRCm39) |
V1581A |
probably damaging |
Het |
Ccdc106 |
G |
A |
7: 5,062,539 (GRCm39) |
D11N |
possibly damaging |
Het |
Ckap5 |
T |
G |
2: 91,429,720 (GRCm39) |
L1464R |
probably null |
Het |
Def6 |
G |
A |
17: 28,436,593 (GRCm39) |
V86I |
probably benign |
Het |
Dnm3 |
T |
A |
1: 162,181,143 (GRCm39) |
T179S |
probably benign |
Het |
Dync1h1 |
G |
A |
12: 110,602,943 (GRCm39) |
E2195K |
probably benign |
Het |
Eme1 |
G |
A |
11: 94,536,368 (GRCm39) |
R534C |
probably damaging |
Het |
Fhip1a |
A |
G |
3: 85,579,775 (GRCm39) |
I810T |
probably damaging |
Het |
Fzd3 |
G |
A |
14: 65,449,537 (GRCm39) |
R514C |
probably damaging |
Het |
H2-T24 |
G |
T |
17: 36,325,888 (GRCm39) |
Y234* |
probably null |
Het |
Ifit1bl1 |
A |
G |
19: 34,571,096 (GRCm39) |
S454P |
possibly damaging |
Het |
Ipcef1 |
T |
A |
10: 6,930,288 (GRCm39) |
|
probably null |
Het |
Mmel1 |
C |
T |
4: 154,979,671 (GRCm39) |
R764C |
probably damaging |
Het |
Or7e166 |
A |
G |
9: 19,624,476 (GRCm39) |
M118V |
probably damaging |
Het |
Pde4c |
A |
G |
8: 71,202,572 (GRCm39) |
D592G |
possibly damaging |
Het |
Prx |
T |
C |
7: 27,219,102 (GRCm39) |
F1340S |
probably damaging |
Het |
Rgs7 |
T |
C |
1: 174,907,021 (GRCm39) |
T90A |
probably damaging |
Het |
Scn11a |
C |
T |
9: 119,584,123 (GRCm39) |
W1497* |
probably null |
Het |
Snrnp40 |
C |
G |
4: 130,271,836 (GRCm39) |
|
probably null |
Het |
Srrm3 |
CAAGAAGAAGAAGAA |
CAAGAAGAAGAA |
5: 135,883,246 (GRCm39) |
|
probably benign |
Het |
Svep1 |
T |
A |
4: 58,069,416 (GRCm39) |
Y2790F |
possibly damaging |
Het |
Tmeff2 |
T |
C |
1: 51,220,946 (GRCm39) |
V307A |
probably damaging |
Het |
Tmem38a |
T |
A |
8: 73,333,814 (GRCm39) |
F98I |
probably damaging |
Het |
Trp73 |
A |
G |
4: 154,165,780 (GRCm39) |
|
probably null |
Het |
Usp29 |
A |
G |
7: 6,964,529 (GRCm39) |
E124G |
probably damaging |
Het |
|
Other mutations in Camk1g |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00433:Camk1g
|
APN |
1 |
193,029,657 (GRCm39) |
unclassified |
probably benign |
|
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 |
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 |
|
Predicted Primers |
|
Posted On |
2014-01-15 |