Incidental Mutation 'R3109:Camk1g'
ID 263688
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 040583-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.101) question?
Stock # R3109 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 193028654-193052606 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 193037301 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 133 (Y133C)
Ref Sequence ENSEMBL: ENSMUSP00000128143 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000016323] [ENSMUST00000169907]
AlphaFold Q91VB2
Predicted Effect probably damaging
Transcript: ENSMUST00000016323
AA Change: Y133C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000016323
Gene: ENSMUSG00000016179
AA Change: Y133C

DomainStartEndE-ValueType
S_TKc 23 277 9.53e-112 SMART
low complexity region 376 389 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000163202
AA Change: Y79C
SMART Domains Protein: ENSMUSP00000131451
Gene: ENSMUSG00000016179
AA Change: Y79C

DomainStartEndE-ValueType
S_TKc 2 238 5.19e-72 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000165718
Predicted Effect probably damaging
Transcript: ENSMUST00000169907
AA Change: Y133C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000128143
Gene: ENSMUSG00000016179
AA Change: Y133C

DomainStartEndE-ValueType
S_TKc 23 277 9.53e-112 SMART
Meta Mutation Damage Score 0.8104 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency 100% (33/33)
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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6820408C15Rik A G 2: 152,284,376 (GRCm39) E323G probably damaging Het
Adamts20 T C 15: 94,243,785 (GRCm39) probably benign Het
Alkbh3 T C 2: 93,835,108 (GRCm39) E80G probably damaging Het
Amfr T C 8: 94,726,934 (GRCm39) Y93C probably damaging Het
Arid2 T C 15: 96,254,627 (GRCm39) Y158H probably damaging Het
Cnnm1 T C 19: 43,430,000 (GRCm39) C373R probably damaging Het
Cnot1 A G 8: 96,462,377 (GRCm39) V1691A probably damaging Het
Cubn T C 2: 13,367,158 (GRCm39) S1571G possibly damaging Het
Dclk2 G A 3: 86,827,342 (GRCm39) P46S probably damaging Het
Dennd1b G A 1: 138,969,654 (GRCm39) probably benign Het
Dmrt2 C A 19: 25,655,055 (GRCm39) T218N probably benign Het
Drd4 T A 7: 140,872,195 (GRCm39) V82E possibly damaging Het
Fat1 G A 8: 45,498,210 (GRCm39) probably null Het
Fyn G C 10: 39,427,451 (GRCm39) D445H probably damaging Het
Igfn1 T C 1: 135,925,586 (GRCm39) D56G probably benign Het
Igkv11-125 T C 6: 67,890,855 (GRCm39) F58L possibly damaging Het
Klhdc4 A C 8: 122,548,073 (GRCm39) H72Q probably damaging Het
Kmt2c A G 5: 25,480,733 (GRCm39) Y1459H probably damaging Het
Lama2 C T 10: 26,877,231 (GRCm39) E2652K probably benign Het
Muc5b C T 7: 141,412,496 (GRCm39) T1814M unknown Het
Ntrk3 C T 7: 78,110,263 (GRCm39) V324M probably benign Het
Or52s1b T A 7: 102,822,293 (GRCm39) M184L probably damaging Het
Per2 A T 1: 91,373,297 (GRCm39) C164S probably benign Het
Ptprn2 A G 12: 116,839,800 (GRCm39) D441G probably benign Het
Rbl2 T A 8: 91,828,863 (GRCm39) I588N probably benign Het
Rslcan18 C T 13: 67,246,671 (GRCm39) E314K possibly damaging Het
Ubr3 A T 2: 69,819,184 (GRCm39) T1325S probably damaging Het
Unc45a A G 7: 79,981,294 (GRCm39) probably benign Het
Vmn1r175 A G 7: 23,508,393 (GRCm39) V78A probably benign Het
Other mutations in Camk1g
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- CCAGGTGCAGTTGGACAATG -3'
(R):5'- TCAGTTACCCAGAAGGAGTGTCC -3'

Sequencing Primer
(F):5'- ACAATGGTTGTCTATGCTCAGC -3'
(R):5'- TGTCCTGAGCCAGCAATGAATG -3'
Posted On 2015-02-05