Incidental Mutation 'R1641:Camk1g'
| ID |
173512 |
| 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 |
039677-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.093)
|
| Stock # |
R1641 (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 A
at 193038665 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 86
(I86F)
|
| 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: I86F
PolyPhen 2
Score 0.245 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000016323
Gene: ENSMUSG00000016179
AA Change: I86F
| 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: I32F
|
| SMART Domains |
Protein: ENSMUSP00000131451
Gene: ENSMUSG00000016179
AA Change: I32F
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
2 |
238 |
5.19e-72 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000165718
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169907
AA Change: I86F
PolyPhen 2
Score 0.089 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000128143
Gene: ENSMUSG00000016179
AA Change: I86F
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
23 |
277 |
9.53e-112 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.0%
- 10x: 95.3%
- 20x: 89.3%
|
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aasdh |
T |
A |
5: 77,039,626 (GRCm39) |
T228S |
probably benign |
Het |
| Adamts2 |
C |
T |
11: 50,683,612 (GRCm39) |
P965S |
probably damaging |
Het |
| Ankrd11 |
A |
G |
8: 123,618,485 (GRCm39) |
I1768T |
probably benign |
Het |
| Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
| Baz2b |
A |
T |
2: 59,743,234 (GRCm39) |
L1579Q |
probably damaging |
Het |
| Btbd7 |
A |
G |
12: 102,757,034 (GRCm39) |
V684A |
probably damaging |
Het |
| Capn13 |
A |
T |
17: 73,689,889 (GRCm39) |
S41T |
possibly damaging |
Het |
| Cep192 |
C |
A |
18: 67,980,504 (GRCm39) |
L1422I |
probably damaging |
Het |
| Chaf1a |
T |
C |
17: 56,354,380 (GRCm39) |
F217L |
unknown |
Het |
| Clca3b |
A |
T |
3: 144,529,274 (GRCm39) |
M800K |
possibly damaging |
Het |
| Cplane1 |
A |
G |
15: 8,258,443 (GRCm39) |
T2230A |
probably benign |
Het |
| Crocc |
A |
G |
4: 140,744,388 (GRCm39) |
V1836A |
probably benign |
Het |
| Csmd2 |
G |
A |
4: 128,377,188 (GRCm39) |
V2023M |
possibly damaging |
Het |
| Cul9 |
A |
G |
17: 46,854,486 (GRCm39) |
V72A |
possibly damaging |
Het |
| Ddx52 |
T |
C |
11: 83,834,269 (GRCm39) |
|
probably null |
Het |
| Dennd5b |
A |
C |
6: 148,969,703 (GRCm39) |
V250G |
probably damaging |
Het |
| Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
| Gtpbp4 |
A |
T |
13: 9,023,285 (GRCm39) |
M593K |
probably benign |
Het |
| Il21 |
A |
G |
3: 37,286,681 (GRCm39) |
F12L |
probably benign |
Het |
| Lrit2 |
T |
A |
14: 36,791,105 (GRCm39) |
N261K |
probably benign |
Het |
| Lrrc39 |
G |
T |
3: 116,364,562 (GRCm39) |
C151F |
probably damaging |
Het |
| Lsm14a |
C |
A |
7: 34,050,799 (GRCm39) |
R426L |
probably damaging |
Het |
| Maml1 |
G |
A |
11: 50,157,774 (GRCm39) |
P134S |
probably benign |
Het |
| Map3k13 |
T |
C |
16: 21,722,542 (GRCm39) |
C235R |
probably damaging |
Het |
| Naip2 |
C |
T |
13: 100,298,489 (GRCm39) |
A516T |
possibly damaging |
Het |
| Nsmaf |
T |
C |
4: 6,409,884 (GRCm39) |
E663G |
probably benign |
Het |
| Ntrk3 |
T |
C |
7: 78,005,822 (GRCm39) |
N513S |
probably damaging |
Het |
| Nufip1 |
T |
G |
14: 76,363,692 (GRCm39) |
N305K |
possibly damaging |
Het |
| Or10al5 |
C |
T |
17: 38,062,916 (GRCm39) |
T57I |
possibly damaging |
Het |
| Or2ag1b |
T |
A |
7: 106,288,918 (GRCm39) |
T7S |
probably benign |
Het |
| Or4c10b |
A |
T |
2: 89,711,745 (GRCm39) |
T192S |
probably benign |
Het |
| Or51a6 |
T |
A |
7: 102,604,175 (GRCm39) |
D218V |
probably benign |
Het |
| Or9r3 |
A |
T |
10: 129,947,872 (GRCm39) |
Y262* |
probably null |
Het |
| Pi4ka |
A |
G |
16: 17,194,894 (GRCm39) |
V168A |
probably benign |
Het |
| Prex2 |
T |
C |
1: 11,301,996 (GRCm39) |
V1433A |
probably damaging |
Het |
| Prl7a1 |
A |
T |
13: 27,817,612 (GRCm39) |
D217E |
probably damaging |
Het |
| Prr3 |
G |
A |
17: 36,285,484 (GRCm39) |
R86* |
probably null |
Het |
| Ptprz1 |
T |
C |
6: 23,049,605 (GRCm39) |
F1350L |
probably damaging |
Het |
| R3hcc1l |
T |
C |
19: 42,552,046 (GRCm39) |
S348P |
possibly damaging |
Het |
| Rag2 |
A |
T |
2: 101,459,960 (GRCm39) |
Q90L |
probably benign |
Het |
| Scel |
T |
C |
14: 103,770,752 (GRCm39) |
L62P |
probably damaging |
Het |
| Serpini1 |
A |
T |
3: 75,521,977 (GRCm39) |
E156V |
possibly damaging |
Het |
| Skint4 |
T |
A |
4: 111,993,240 (GRCm39) |
I321K |
possibly damaging |
Het |
| Slc28a2 |
A |
G |
2: 122,286,098 (GRCm39) |
D478G |
probably damaging |
Het |
| Sppl2b |
G |
T |
10: 80,700,965 (GRCm39) |
V164F |
probably damaging |
Het |
| Traf5 |
T |
A |
1: 191,729,470 (GRCm39) |
N527I |
probably benign |
Het |
| Ttc3 |
T |
A |
16: 94,244,176 (GRCm39) |
D17E |
probably benign |
Het |
| Txlnb |
G |
A |
10: 17,682,521 (GRCm39) |
A148T |
possibly damaging |
Het |
| Ubtf |
A |
G |
11: 102,201,757 (GRCm39) |
Y256H |
probably damaging |
Het |
| Usp25 |
T |
C |
16: 76,868,559 (GRCm39) |
F320S |
possibly damaging |
Het |
| Utp14b |
T |
C |
1: 78,643,656 (GRCm39) |
V518A |
probably benign |
Het |
| Utp20 |
A |
G |
10: 88,593,834 (GRCm39) |
V2192A |
possibly damaging |
Het |
| Vmn1r173 |
T |
A |
7: 23,402,533 (GRCm39) |
M256K |
probably benign |
Het |
| Vmn2r114 |
T |
A |
17: 23,515,962 (GRCm39) |
M510L |
probably benign |
Het |
| Xdh |
T |
A |
17: 74,233,547 (GRCm39) |
Q189L |
probably benign |
Het |
| Zfat |
C |
T |
15: 68,051,959 (GRCm39) |
A605T |
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 |
|
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 |
PCR Primer
(F):5'- AGTACCCCAACAACTTGGAGCCTG -3'
(R):5'- GAGACACGGTCCTCTTACACATTGC -3'
Sequencing Primer
(F):5'- ACAACTTGGAGCCTGTGCTG -3'
(R):5'- TTACACATTGCCATCCAACAGTC -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation