Incidental Mutation 'R7908:Camk1g'
ID 610253
Institutional Source Beutler Lab
Gene Symbol Camk1g
Ensembl Gene ENSMUSG00000016179
Gene Name calcium/calmodulin-dependent protein kinase I gamma
Synonyms CLICK-III, CaMKIgamma
Accession Numbers
Essential gene? Probably non essential (E-score: 0.101) question?
Stock # R7908 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 193028654-193052606 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 193042082 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 56 (K56E)
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: K56E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000016323
Gene: ENSMUSG00000016179
AA Change: K56E

DomainStartEndE-ValueType
S_TKc 23 277 9.53e-112 SMART
low complexity region 376 389 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000163202
AA Change: K2E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000131451
Gene: ENSMUSG00000016179
AA Change: K2E

DomainStartEndE-ValueType
S_TKc 2 238 5.19e-72 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000169907
AA Change: K56E

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000128143
Gene: ENSMUSG00000016179
AA Change: K56E

DomainStartEndE-ValueType
S_TKc 23 277 9.53e-112 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A4galt A G 15: 83,112,577 (GRCm39) F69L probably benign Het
Acsf3 A G 8: 123,512,562 (GRCm39) M328V probably damaging Het
Adam10 T G 9: 70,669,046 (GRCm39) V454G possibly damaging Het
Adamts15 T C 9: 30,813,522 (GRCm39) D881G probably benign Het
Adamtsl1 T C 4: 86,274,676 (GRCm39) V1244A probably benign Het
Ankfn1 G A 11: 89,296,360 (GRCm39) P123L probably damaging Het
Aox1 T C 1: 58,145,227 (GRCm39) I1331T possibly damaging Het
Atg14 T A 14: 47,806,050 (GRCm39) probably benign Het
Bmal1 A T 7: 112,912,680 (GRCm39) I579L probably benign Het
Btnl4 A G 17: 34,692,161 (GRCm39) M147T possibly damaging Het
Capn7 T C 14: 31,088,202 (GRCm39) probably null Het
Cbln1 T A 8: 88,198,724 (GRCm39) T49S probably benign Het
Cc2d2a T C 5: 43,864,188 (GRCm39) V763A probably benign Het
Cdc40 A G 10: 40,724,042 (GRCm39) Y249H probably damaging Het
Cfap61 T A 2: 145,944,019 (GRCm39) L762H probably damaging Het
Cfap68 T A 9: 50,675,248 (GRCm39) T153S possibly damaging Het
Cfap73 T C 5: 120,768,123 (GRCm39) T212A probably benign Het
Cfi A G 3: 129,642,233 (GRCm39) E29G probably benign Het
Chmp6 A T 11: 119,804,656 (GRCm39) probably benign Het
Clec14a T C 12: 58,314,465 (GRCm39) T386A possibly damaging Het
Coq6 T A 12: 84,417,940 (GRCm39) L268H probably damaging Het
Cpt1a T C 19: 3,412,202 (GRCm39) S225P probably benign Het
Dhx58 C A 11: 100,586,130 (GRCm39) L630F probably damaging Het
Dlg2 T A 7: 91,549,981 (GRCm39) V158E probably damaging Het
Fcgbpl1 A T 7: 27,846,921 (GRCm39) Y1168F probably benign Het
Foxd3 A G 4: 99,545,576 (GRCm39) T239A probably benign Het
Galnt6 T C 15: 100,601,242 (GRCm39) T346A probably damaging Het
Guca1b C G 17: 47,702,102 (GRCm39) T185S unknown Het
H2-M5 T C 17: 37,298,571 (GRCm39) T292A probably benign Het
Hlx T C 1: 184,459,773 (GRCm39) H455R probably benign Het
Hydin A G 8: 111,237,499 (GRCm39) Y1924C probably benign Het
Ighg2b C T 12: 113,270,074 (GRCm39) V315M Het
Ildr2 A G 1: 166,135,369 (GRCm39) K374E probably damaging Het
Jmjd1c T C 10: 67,061,621 (GRCm39) S1144P probably benign Het
Kcnj8 T C 6: 142,511,755 (GRCm39) D284G probably benign Het
Kri1 TTCCTCCTCCTCCTCCTCCTCCTCCTCCTC TTCCTCCTCCTCCTCCTCCTCCTCCTC 9: 21,192,352 (GRCm39) probably benign Het
Lingo4 A G 3: 94,309,541 (GRCm39) T160A probably benign Het
Lmod3 G T 6: 97,225,434 (GRCm39) A129E probably benign Het
Lrrk2 T C 15: 91,610,355 (GRCm39) C696R probably damaging Het
Mc2r A G 18: 68,541,036 (GRCm39) F86L probably benign Het
Mppe1 T G 18: 67,362,055 (GRCm39) K170T probably benign Het
Mtcl1 A G 17: 66,678,325 (GRCm39) I667T possibly damaging Het
Mtnr1a A T 8: 45,540,863 (GRCm39) I275F probably benign Het
Myh2 A G 11: 67,088,197 (GRCm39) I1938V probably benign Het
Npsr1 A T 9: 24,201,096 (GRCm39) E160V probably damaging Het
Or13c7b T A 4: 43,821,086 (GRCm39) I92F probably damaging Het
Or5ac23 C T 16: 59,149,606 (GRCm39) D89N possibly damaging Het
Or6c3 T A 10: 129,308,867 (GRCm39) I102N probably damaging Het
Ovch2 T A 7: 107,388,326 (GRCm39) Y418F probably damaging Het
Pak5 A G 2: 135,958,479 (GRCm39) L203S probably benign Het
Pcdh15 A T 10: 74,479,414 (GRCm39) E508D probably benign Het
Prl7a1 T C 13: 27,826,433 (GRCm39) M1V probably null Het
Prorp A T 12: 55,426,250 (GRCm39) K533N possibly damaging Het
Prpsap2 G T 11: 61,647,098 (GRCm39) N14K possibly damaging Het
Rad54b T A 4: 11,595,868 (GRCm39) V215E probably null Het
Ryr2 G A 13: 11,807,634 (GRCm39) T845I probably benign Het
Scgb2b3 G A 7: 31,061,439 (GRCm39) T20I probably damaging Het
Serpina1b T C 12: 103,694,566 (GRCm39) I393V possibly damaging Het
Slc13a5 T C 11: 72,149,890 (GRCm39) M207V probably benign Het
Slc49a3 T C 5: 108,592,363 (GRCm39) I276V probably benign Het
Smg1 A T 7: 117,785,357 (GRCm39) L843M unknown Het
Sp100 T C 1: 85,635,788 (GRCm39) V531A possibly damaging Het
Srsf6 T C 2: 162,775,760 (GRCm39) S190P unknown Het
Stil A G 4: 114,889,896 (GRCm39) K795E possibly damaging Het
Sugp2 A G 8: 70,704,577 (GRCm39) R705G probably benign Het
Tnfrsf11a T A 1: 105,737,099 (GRCm39) C69S probably damaging Het
Trim30a A T 7: 104,070,656 (GRCm39) N252K probably benign Het
Tshz1 T A 18: 84,032,732 (GRCm39) K559* probably null Het
Ttbk1 C T 17: 46,789,864 (GRCm39) R133H probably damaging Het
Vmn1r1 T C 1: 181,984,915 (GRCm39) Y250C probably benign Het
Vmn2r12 A G 5: 109,234,307 (GRCm39) L635P probably damaging Het
Vmn2r52 C A 7: 9,896,877 (GRCm39) V532L probably benign Het
Vwa5b1 A T 4: 138,296,481 (GRCm39) L1182* probably null Het
Washc2 A G 6: 116,225,106 (GRCm39) D818G probably benign Het
Xylb T G 9: 119,210,611 (GRCm39) S365A probably benign Het
Zcchc8 T C 5: 123,858,783 (GRCm39) probably benign Het
Zdbf2 T C 1: 63,345,986 (GRCm39) I1455T possibly damaging 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
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
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'- TGGGCTTAACTGACTAACCTGAC -3'
(R):5'- CTCATCTGGAAACTTGTCAGCC -3'

Sequencing Primer
(F):5'- CCTGACACAGCAATTCGAAGGG -3'
(R):5'- CTGGAAACTTGTCAGCCATACATTC -3'
Posted On 2019-12-20