Incidental Mutation 'IGL00786:Camkmt'
ID13242
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Camkmt
Ensembl Gene ENSMUSG00000071037
Gene Namecalmodulin-lysine N-methyltransferase
Synonyms1700106N22Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00786
Quality Score
Status
Chromosome17
Chromosomal Location85090726-85458139 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 85096491 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 47 (V47A)
Ref Sequence ENSEMBL: ENSMUSP00000092811 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095188]
Predicted Effect probably damaging
Transcript: ENSMUST00000095188
AA Change: V47A

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000092811
Gene: ENSMUSG00000071037
AA Change: V47A

DomainStartEndE-ValueType
low complexity region 6 18 N/A INTRINSIC
low complexity region 39 53 N/A INTRINSIC
Pfam:Methyltransf_16 110 278 7.7e-22 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a class I protein methyltransferase that acts in the formation of trimethyllysine in calmodulin. The protein contains a AdoMet-binding motif and may play a role in calcium-dependent signaling. [provided by RefSeq, Sep 2012]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced body weight, reduced muscle strength and altered somatosensory development and brain function. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930402F06Rik T C 2: 35,375,839 N242S probably benign Het
Akap9 C A 5: 4,070,522 A3646E probably damaging Het
Akt1 C A 12: 112,657,671 G233V probably damaging Het
B3gat3 A G 19: 8,926,785 E320G probably benign Het
Bpifa5 G A 2: 154,167,252 C238Y probably damaging Het
Ccnl2 C T 4: 155,820,880 R284W probably damaging Het
Chl1 G T 6: 103,675,145 V341F probably damaging Het
Cst3 A T 2: 148,872,877 C93* probably null Het
Ctsh T C 9: 90,064,238 V119A probably damaging Het
Dmap1 C T 4: 117,676,396 R225Q possibly damaging Het
Ehbp1 A G 11: 22,100,460 S479P possibly damaging Het
Eml2 A G 7: 19,202,582 Y528C probably damaging Het
Faim G A 9: 98,992,165 G15R probably damaging Het
G6pc3 A G 11: 102,193,105 M186V probably benign Het
Gpr37 A G 6: 25,669,318 V509A possibly damaging Het
Heatr5b G T 17: 78,824,634 H347N possibly damaging Het
Idh1 A G 1: 65,166,243 S188P probably damaging Het
Mphosph8 T C 14: 56,672,544 V118A probably benign Het
Mthfsd C T 8: 121,104,468 R91Q probably damaging Het
Otor G A 2: 143,079,926 V86I probably damaging Het
Pdk2 T A 11: 95,031,935 T140S probably benign Het
Pnliprp2 A G 19: 58,760,497 N78S probably benign Het
Rimbp3 C T 16: 17,211,688 T992M probably damaging Het
Sdad1 A T 5: 92,303,773 probably null Het
Sidt2 A G 9: 45,949,803 S71P possibly damaging Het
Slc44a2 T A 9: 21,345,935 V390E probably damaging Het
Tmem168 T C 6: 13,602,675 I231V probably benign Het
Uhrf1bp1 T A 17: 27,879,292 I136N probably damaging Het
Vim T C 2: 13,578,510 probably null Het
Other mutations in Camkmt
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00433:Camkmt APN 17 85096666 splice site probably benign
IGL00840:Camkmt APN 17 85458123 nonsense probably null
IGL02604:Camkmt APN 17 85096625 missense possibly damaging 0.74
IGL02809:Camkmt APN 17 85394648 missense probably damaging 1.00
R0465:Camkmt UTSW 17 85431522 missense probably damaging 0.99
R0537:Camkmt UTSW 17 85394659 missense probably benign 0.01
R1573:Camkmt UTSW 17 85096530 missense probably damaging 0.98
R2442:Camkmt UTSW 17 85090775 missense possibly damaging 0.51
R2878:Camkmt UTSW 17 85431551 splice site probably benign
R5121:Camkmt UTSW 17 85096581 missense probably benign 0.00
R5174:Camkmt UTSW 17 85452237 missense probably benign
R6006:Camkmt UTSW 17 85452238 missense possibly damaging 0.71
R6587:Camkmt UTSW 17 85113815 missense possibly damaging 0.74
R6726:Camkmt UTSW 17 85394609 missense probably damaging 0.98
R7301:Camkmt UTSW 17 85431493 missense probably benign 0.10
Posted On2012-12-06