Incidental Mutation 'R7071:Camk1g'
| ID |
548890 |
| 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 |
045167-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.093)
|
| Stock # |
R7071 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
193028654-193052606 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 193042117 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 44
(V44E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000016323
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000016323]
[ENSMUST00000169907]
|
| AlphaFold |
Q91VB2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000016323
AA Change: V44E
PolyPhen 2
Score 0.096 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000016323
Gene: ENSMUSG00000016179
AA Change: V44E
| 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: 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
AA Change: V44E
PolyPhen 2
Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000128143
Gene: ENSMUSG00000016179
AA Change: V44E
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
23 |
277 |
9.53e-112 |
SMART |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
95% (41/43) |
| 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 |
|---|
| Abi3bp |
C |
T |
16: 56,449,503 (GRCm39) |
Q854* |
probably null |
Het |
| Arl2bp |
G |
T |
8: 95,393,794 (GRCm39) |
|
probably benign |
Het |
| Astl |
T |
C |
2: 127,187,885 (GRCm39) |
M121T |
probably benign |
Het |
| Atrip |
T |
C |
9: 108,896,082 (GRCm39) |
|
probably null |
Het |
| Cc2d2a |
A |
G |
5: 43,866,455 (GRCm39) |
H804R |
probably benign |
Het |
| Cd300a |
T |
C |
11: 114,792,099 (GRCm39) |
S314P |
probably damaging |
Het |
| Ceacam5 |
A |
T |
7: 17,484,577 (GRCm39) |
I440L |
possibly damaging |
Het |
| Cfap61 |
T |
G |
2: 145,843,832 (GRCm39) |
I306R |
probably benign |
Het |
| Cnot10 |
T |
C |
9: 114,446,787 (GRCm39) |
|
probably null |
Het |
| Cntln |
T |
A |
4: 85,018,622 (GRCm39) |
L76Q |
probably damaging |
Het |
| Cobl |
A |
G |
11: 12,204,795 (GRCm39) |
C636R |
probably benign |
Het |
| Dnm3 |
A |
T |
1: 161,847,412 (GRCm39) |
H148Q |
probably damaging |
Het |
| Dot1l |
T |
A |
10: 80,628,079 (GRCm39) |
L1039Q |
probably benign |
Het |
| Faiml |
T |
A |
9: 99,118,400 (GRCm39) |
M1L |
unknown |
Het |
| Fat1 |
T |
G |
8: 45,442,145 (GRCm39) |
I1149S |
possibly damaging |
Het |
| Gatad1 |
T |
C |
5: 3,693,540 (GRCm39) |
R210G |
probably benign |
Het |
| Gm11938 |
A |
T |
11: 99,493,910 (GRCm39) |
C62S |
probably damaging |
Het |
| Gtf2i |
A |
G |
5: 134,292,475 (GRCm39) |
L423S |
probably damaging |
Het |
| Hmcn1 |
A |
T |
1: 150,479,853 (GRCm39) |
C4582S |
probably damaging |
Het |
| Ifitm3 |
A |
G |
7: 140,590,437 (GRCm39) |
V41A |
probably benign |
Het |
| Ipo11 |
T |
A |
13: 107,061,604 (GRCm39) |
S19C |
probably damaging |
Het |
| Khsrp |
C |
A |
17: 57,332,386 (GRCm39) |
M268I |
possibly damaging |
Het |
| Lrp1b |
T |
G |
2: 41,298,276 (GRCm39) |
D1036A |
|
Het |
| Mecom |
T |
G |
3: 30,034,857 (GRCm39) |
H273P |
probably damaging |
Het |
| Mfn1 |
G |
A |
3: 32,622,544 (GRCm39) |
V601I |
probably benign |
Het |
| Mrps5 |
T |
A |
2: 127,442,772 (GRCm39) |
Y280* |
probably null |
Het |
| Myo18a |
A |
G |
11: 77,714,653 (GRCm39) |
T811A |
probably damaging |
Het |
| Ndfip2 |
A |
C |
14: 105,539,760 (GRCm39) |
N292H |
possibly damaging |
Het |
| Or2ak5 |
C |
A |
11: 58,610,984 (GRCm39) |
V297F |
possibly damaging |
Het |
| Otog |
T |
A |
7: 45,916,747 (GRCm39) |
C895S |
probably damaging |
Het |
| Pacs1 |
A |
T |
19: 5,206,402 (GRCm39) |
I261N |
possibly damaging |
Het |
| Pira13 |
A |
G |
7: 3,824,667 (GRCm39) |
S573P |
unknown |
Het |
| Ptprn |
A |
T |
1: 75,237,263 (GRCm39) |
M113K |
possibly damaging |
Het |
| Rag1 |
T |
C |
2: 101,473,807 (GRCm39) |
H445R |
probably damaging |
Het |
| Ranbp2 |
T |
G |
10: 58,328,659 (GRCm39) |
F2853V |
probably damaging |
Het |
| Skint5 |
A |
T |
4: 113,636,277 (GRCm39) |
F647Y |
unknown |
Het |
| Stt3b |
T |
C |
9: 115,083,085 (GRCm39) |
Y449C |
probably damaging |
Het |
| Ythdc2 |
A |
G |
18: 44,978,855 (GRCm39) |
D455G |
probably benign |
Het |
| Zfp451 |
A |
C |
1: 33,815,825 (GRCm39) |
D708E |
possibly damaging |
Het |
| Zfp456 |
T |
C |
13: 67,520,896 (GRCm39) |
E33G |
probably damaging |
Het |
| Zfp599 |
T |
C |
9: 22,169,392 (GRCm39) |
T27A |
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 |
|
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 |
|
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'- GCACAATACCCACAGCTGTG -3'
(R):5'- AGAGCACACTGGTATGTCAGATAG -3'
Sequencing Primer
(F):5'- CTGTGGAAATCAAGCTCATTTGCC -3'
(R):5'- CACTGGTATGTCAGATAGGCAGTG -3'
|
| Posted On |
2019-05-15 |
Incidental Mutation