Incidental Mutation 'R9506:Camk1g'
| ID |
717810 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.093)
|
| Stock # |
R9506 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
193028654-193052606 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 193030363 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| 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 null
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 |
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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abi3bp |
A |
G |
16: 56,437,773 (GRCm39) |
T632A |
unknown |
Het |
| Atp2b1 |
T |
C |
10: 98,858,862 (GRCm39) |
S1182P |
probably benign |
Het |
| Best3 |
T |
A |
10: 116,839,826 (GRCm39) |
F225I |
probably damaging |
Het |
| Cdc42bpb |
G |
A |
12: 111,261,372 (GRCm39) |
P1656S |
probably benign |
Het |
| Cflar |
A |
T |
1: 58,791,975 (GRCm39) |
Q426L |
|
Het |
| Chrna9 |
T |
A |
5: 66,128,213 (GRCm39) |
D140E |
probably damaging |
Het |
| Cmpk2 |
A |
G |
12: 26,519,850 (GRCm39) |
D167G |
probably benign |
Het |
| Csmd1 |
A |
G |
8: 16,250,023 (GRCm39) |
L985P |
probably damaging |
Het |
| Cutal |
A |
G |
2: 34,775,894 (GRCm39) |
D75G |
probably null |
Het |
| Dnah12 |
G |
T |
14: 26,514,168 (GRCm39) |
V1776F |
probably benign |
Het |
| Dnah6 |
A |
G |
6: 73,119,299 (GRCm39) |
V1528A |
probably damaging |
Het |
| Elovl1 |
A |
G |
4: 118,287,912 (GRCm39) |
D16G |
probably damaging |
Het |
| Ermard |
T |
A |
17: 15,281,368 (GRCm39) |
L593M |
probably damaging |
Het |
| Fstl4 |
A |
G |
11: 53,024,950 (GRCm39) |
D274G |
probably benign |
Het |
| Gabrg1 |
C |
T |
5: 70,939,713 (GRCm39) |
V140M |
probably damaging |
Het |
| Glrx2 |
C |
T |
1: 143,622,270 (GRCm39) |
R89* |
probably null |
Het |
| Gsta3 |
A |
C |
1: 21,327,586 (GRCm39) |
D40A |
possibly damaging |
Het |
| H4c3 |
C |
T |
13: 23,882,264 (GRCm39) |
G57S |
probably benign |
Het |
| Hsf2 |
G |
A |
10: 57,381,241 (GRCm39) |
|
probably null |
Het |
| Ifi203 |
A |
G |
1: 173,751,565 (GRCm39) |
S833P |
possibly damaging |
Het |
| Ilk |
T |
C |
7: 105,390,020 (GRCm39) |
Y132H |
probably benign |
Het |
| Jup |
G |
A |
11: 100,267,704 (GRCm39) |
R540C |
probably damaging |
Het |
| Kdm7a |
T |
A |
6: 39,126,305 (GRCm39) |
H560L |
probably benign |
Het |
| Kynu |
T |
A |
2: 43,571,414 (GRCm39) |
N443K |
probably damaging |
Het |
| Mbd5 |
T |
C |
2: 49,162,919 (GRCm39) |
S1134P |
probably damaging |
Het |
| Mknk2 |
T |
C |
10: 80,503,918 (GRCm39) |
D331G |
probably benign |
Het |
| Mtfmt |
C |
T |
9: 65,343,147 (GRCm39) |
R18C |
probably benign |
Het |
| Myo5b |
A |
G |
18: 74,877,831 (GRCm39) |
Q1584R |
possibly damaging |
Het |
| Nup210 |
G |
A |
6: 91,048,856 (GRCm39) |
P467S |
possibly damaging |
Het |
| Nxf1 |
A |
G |
19: 8,749,508 (GRCm39) |
Y135C |
probably damaging |
Het |
| Or4a67 |
T |
C |
2: 88,597,840 (GRCm39) |
Y273C |
probably damaging |
Het |
| Rab11fip3 |
T |
G |
17: 26,213,250 (GRCm39) |
E853A |
probably damaging |
Het |
| Rap1gap2 |
A |
G |
11: 74,305,266 (GRCm39) |
M313T |
probably damaging |
Het |
| Rims2 |
G |
A |
15: 39,335,832 (GRCm39) |
V814I |
probably damaging |
Het |
| Sec16a |
A |
T |
2: 26,319,384 (GRCm39) |
|
probably null |
Het |
| Slc36a3 |
A |
G |
11: 55,039,457 (GRCm39) |
I57T |
probably benign |
Het |
| Slc5a9 |
G |
A |
4: 111,750,439 (GRCm39) |
R140* |
probably null |
Het |
| Tas2r131 |
T |
A |
6: 132,934,024 (GRCm39) |
T262S |
possibly damaging |
Het |
| Tigd3 |
G |
T |
19: 5,942,860 (GRCm39) |
A90D |
probably damaging |
Het |
| Txnrd3 |
A |
G |
6: 89,638,461 (GRCm39) |
M217V |
possibly damaging |
Het |
| Ube3d |
A |
G |
9: 86,330,825 (GRCm39) |
I119T |
probably damaging |
Het |
| Vcp |
A |
G |
4: 42,983,383 (GRCm39) |
V559A |
probably damaging |
Het |
| Vmn1r173 |
T |
A |
7: 23,401,963 (GRCm39) |
I66N |
probably damaging |
Het |
| Vmn1r234 |
T |
G |
17: 21,449,503 (GRCm39) |
I139S |
probably benign |
Het |
| Vmn2r105 |
C |
T |
17: 20,429,404 (GRCm39) |
M557I |
probably benign |
Het |
| Wnt7b |
A |
G |
15: 85,465,613 (GRCm39) |
S22P |
unknown |
Het |
| Zfp850 |
C |
A |
7: 27,688,987 (GRCm39) |
R407L |
possibly 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 |
|
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 |
|
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 |
PCR Primer
(F):5'- TGGCCTCTACCATACCTTAGTGAG -3'
(R):5'- TCACTCAACTGCCTGGTCAAC -3'
Sequencing Primer
(F):5'- CAGACATGGCTGGCAATGGTTTC -3'
(R):5'- ACTGCCTGGTCAACGGCTC -3'
|
| Posted On |
2022-07-18 |
Incidental Mutation