Incidental Mutation 'IGL02809:Camkmt'
ID360521
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 #IGL02809
Quality Score
Status
Chromosome17
Chromosomal Location85090726-85458139 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 85394648 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Isoleucine at position 180 (N180I)
Ref Sequence ENSEMBL: ENSMUSP00000092811 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095188]
Predicted Effect probably damaging
Transcript: ENSMUST00000095188
AA Change: N180I

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000092811
Gene: ENSMUSG00000071037
AA Change: N180I

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: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Card9 A G 2: 26,356,864 M324T probably benign Het
Cenpf T C 1: 189,682,358 probably benign Het
Cerkl A G 2: 79,342,202 S349P possibly damaging Het
Ctsj C T 13: 61,003,160 S162N probably damaging Het
Fancm A G 12: 65,121,667 I1601M possibly damaging Het
Fpr-rs3 T A 17: 20,623,963 R305S probably damaging Het
Gpatch8 A G 11: 102,487,590 V178A unknown Het
Itga4 A G 2: 79,280,577 Y253C probably damaging Het
Kntc1 T C 5: 123,776,582 F655S probably damaging Het
Manba A G 3: 135,547,560 D414G probably damaging Het
Nfkbid C T 7: 30,425,235 T7I possibly damaging Het
Ngly1 G T 14: 16,281,791 C349F probably damaging Het
Palld T C 8: 61,515,247 N1095S probably damaging Het
Sp100 C T 1: 85,681,124 R325W probably damaging Het
Stxbp4 A G 11: 90,600,184 probably null Het
Tle2 C A 10: 81,586,362 probably null Het
Tlr13 G T X: 106,156,691 probably benign Het
Ttc32 G A 12: 9,035,879 R142Q possibly damaging Het
Ubap2l G A 3: 90,021,246 T526M probably damaging Het
Uggt2 T C 14: 119,090,738 E124G probably benign Het
Vmn1r72 A G 7: 11,670,003 F173L probably benign Het
Xab2 T C 8: 3,610,175 S851G probably benign Het
Zfp808 A G 13: 62,173,180 K741R probably benign Het
Other mutations in Camkmt
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00433:Camkmt APN 17 85096666 splice site probably benign
IGL00786:Camkmt APN 17 85096491 missense probably damaging 0.99
IGL00840:Camkmt APN 17 85458123 nonsense probably null
IGL02604:Camkmt APN 17 85096625 missense possibly damaging 0.74
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
R7523:Camkmt UTSW 17 85391628 missense probably benign 0.01
Posted On2015-12-18