Incidental Mutation 'R4642:Camk1g'
ID |
351671 |
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 |
041904-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.101)
|
Stock # |
R4642 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
193028654-193052606 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 193038667 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Valine
at position 85
(D85V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000016323
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000016323]
[ENSMUST00000169907]
|
AlphaFold |
Q91VB2 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000016323
AA Change: D85V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000016323 Gene: ENSMUSG00000016179 AA Change: D85V
Domain | Start | End | E-Value | Type |
S_TKc
|
23 |
277 |
9.53e-112 |
SMART |
low complexity region
|
376 |
389 |
N/A |
INTRINSIC |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000163202
AA Change: D31V
|
SMART Domains |
Protein: ENSMUSP00000131451 Gene: ENSMUSG00000016179 AA Change: D31V
Domain | Start | End | E-Value | Type |
S_TKc
|
2 |
238 |
5.19e-72 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000165718
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000169907
AA Change: D85V
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000128143 Gene: ENSMUSG00000016179 AA Change: D85V
Domain | Start | End | E-Value | Type |
S_TKc
|
23 |
277 |
9.53e-112 |
SMART |
|
Meta Mutation Damage Score |
0.9157 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
Validation Efficiency |
96% (46/48) |
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: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abce1 |
T |
C |
8: 80,415,982 (GRCm39) |
T387A |
probably damaging |
Het |
Acaca |
A |
T |
11: 84,171,287 (GRCm39) |
T3S |
probably damaging |
Het |
Adamts16 |
G |
A |
13: 70,927,637 (GRCm39) |
|
probably benign |
Het |
Cacna1g |
A |
G |
11: 94,308,920 (GRCm39) |
I1631T |
probably damaging |
Het |
Caskin1 |
G |
A |
17: 24,725,602 (GRCm39) |
S1296N |
probably benign |
Het |
Ccbe1 |
A |
T |
18: 66,424,654 (GRCm39) |
|
probably benign |
Het |
Ccdc184 |
T |
G |
15: 98,066,537 (GRCm39) |
V114G |
probably benign |
Het |
Cpxm2 |
C |
T |
7: 131,672,610 (GRCm39) |
R313H |
probably benign |
Het |
Crebrf |
G |
T |
17: 26,962,035 (GRCm39) |
E377D |
probably benign |
Het |
Dcstamp |
T |
C |
15: 39,618,118 (GRCm39) |
F176L |
probably benign |
Het |
Dnah2 |
T |
C |
11: 69,387,385 (GRCm39) |
D947G |
probably benign |
Het |
Erbb4 |
A |
G |
1: 68,289,791 (GRCm39) |
I750T |
probably damaging |
Het |
Gas2l3 |
CACTCGTCATACT |
CACT |
10: 89,266,820 (GRCm39) |
|
probably benign |
Het |
Gm16391 |
T |
G |
17: 76,591,826 (GRCm39) |
|
noncoding transcript |
Het |
Gm973 |
A |
T |
1: 59,597,273 (GRCm39) |
E434D |
probably damaging |
Het |
Hdac7 |
T |
C |
15: 97,704,397 (GRCm39) |
E491G |
probably damaging |
Het |
Hyal5 |
A |
G |
6: 24,876,621 (GRCm39) |
N165D |
probably benign |
Het |
Ly86 |
A |
T |
13: 37,560,877 (GRCm39) |
R79S |
possibly damaging |
Het |
Mapk7 |
A |
G |
11: 61,381,727 (GRCm39) |
I13T |
probably damaging |
Het |
Medag |
T |
A |
5: 149,335,444 (GRCm39) |
M1K |
probably null |
Het |
Myh9 |
T |
C |
15: 77,646,151 (GRCm39) |
D1944G |
probably benign |
Het |
Nadk2 |
T |
C |
15: 9,092,810 (GRCm39) |
W206R |
possibly damaging |
Het |
Or7g18 |
T |
A |
9: 18,787,463 (GRCm39) |
M280K |
probably damaging |
Het |
Pcdhb11 |
T |
A |
18: 37,555,021 (GRCm39) |
F117Y |
probably benign |
Het |
Pdzd8 |
C |
T |
19: 59,293,662 (GRCm39) |
E396K |
probably damaging |
Het |
Piezo1 |
T |
A |
8: 123,222,193 (GRCm39) |
Y541F |
probably damaging |
Het |
Polr3h |
T |
C |
15: 81,806,667 (GRCm39) |
I51V |
probably benign |
Het |
Prune2 |
T |
C |
19: 16,998,019 (GRCm39) |
|
probably null |
Het |
Pyroxd1 |
C |
G |
6: 142,300,467 (GRCm39) |
S199* |
probably null |
Het |
Rars2 |
T |
G |
4: 34,656,229 (GRCm39) |
V461G |
probably damaging |
Het |
Rasgrp3 |
T |
C |
17: 75,805,443 (GRCm39) |
C145R |
possibly damaging |
Het |
Ryr1 |
T |
C |
7: 28,785,463 (GRCm39) |
T1743A |
possibly damaging |
Het |
Sac3d1 |
G |
A |
19: 6,166,434 (GRCm39) |
A325V |
possibly damaging |
Het |
Shank1 |
A |
T |
7: 43,962,565 (GRCm39) |
D93V |
unknown |
Het |
Smg1 |
T |
C |
7: 117,753,487 (GRCm39) |
|
probably benign |
Het |
Tbl1xr1 |
A |
T |
3: 22,242,584 (GRCm39) |
N38I |
probably damaging |
Het |
Ufc1 |
A |
G |
1: 171,117,467 (GRCm39) |
I82T |
probably benign |
Het |
Uggt2 |
A |
T |
14: 119,272,347 (GRCm39) |
M434K |
probably benign |
Het |
Unc80 |
G |
A |
1: 66,710,873 (GRCm39) |
|
probably null |
Het |
Zan |
T |
A |
5: 137,462,450 (GRCm39) |
T910S |
unknown |
Het |
Zfp64 |
A |
G |
2: 168,776,851 (GRCm39) |
C256R |
probably benign |
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 |
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 |
PCR Primer
(F):5'- CTGTGCTGGCATGAACTAAC -3'
(R):5'- CTCAGCAAGGCTTCTCTGAG -3'
Sequencing Primer
(F):5'- ACTCAATAGTCGGCTCAGTG -3'
(R):5'- GAGACACGGTCCTCTTACACATTG -3'
|
Posted On |
2015-10-08 |