Incidental Mutation 'IGL00840:Camkmt'
ID 13243
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Camkmt
Ensembl Gene ENSMUSG00000071037
Gene Name calmodulin-lysine N-methyltransferase
Synonyms 1700106N22Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00840
Quality Score
Status
Chromosome 17
Chromosomal Location 85397989-85766017 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to G at 85765551 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Stop codon at position 319 (L319*)
Ref Sequence ENSEMBL: ENSMUSP00000092811 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095188]
AlphaFold Q3U2J5
Predicted Effect probably null
Transcript: ENSMUST00000095188
AA Change: L319*
SMART Domains Protein: ENSMUSP00000092811
Gene: ENSMUSG00000071037
AA Change: L319*

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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts20 T C 15: 94,180,363 (GRCm39) Y1764C probably damaging Het
Agbl3 T C 6: 34,776,094 (GRCm39) V200A possibly damaging Het
Akr1b10 T C 6: 34,371,041 (GRCm39) S264P possibly damaging Het
Cdhr2 T C 13: 54,867,965 (GRCm39) W513R probably damaging Het
Cts8 T C 13: 61,399,392 (GRCm39) Y189C probably damaging Het
Cyp2d10 T A 15: 82,288,691 (GRCm39) T264S probably benign Het
Dbt G A 3: 116,339,763 (GRCm39) G384S probably benign Het
Dnah8 G A 17: 31,009,915 (GRCm39) V3769M probably damaging Het
Dnajc16 C A 4: 141,495,314 (GRCm39) G468V probably damaging Het
Eif3d A T 15: 77,846,069 (GRCm39) N351K probably benign Het
F5 T C 1: 164,007,093 (GRCm39) M299T probably benign Het
Fcamr G A 1: 130,740,951 (GRCm39) V457M probably benign Het
Heatr5b A G 17: 79,072,866 (GRCm39) L1599P probably damaging Het
Kl A T 5: 150,904,252 (GRCm39) I335F possibly damaging Het
Knop1 A G 7: 118,452,021 (GRCm39) Y233H probably damaging Het
Lhcgr T C 17: 89,061,164 (GRCm39) probably benign Het
Lypd11 A T 7: 24,422,931 (GRCm39) L129H probably damaging Het
Macrod2 A T 2: 142,018,578 (GRCm39) N237I possibly damaging Het
Myo7a T C 7: 97,700,866 (GRCm39) S2168G probably benign Het
Naxe T C 3: 87,965,290 (GRCm39) I108V probably benign Het
Ncbp1 T A 4: 46,161,307 (GRCm39) W428R probably damaging Het
Nxpe3 T C 16: 55,664,595 (GRCm39) I542V probably damaging Het
Phkb T A 8: 86,684,216 (GRCm39) S424R probably benign Het
Rgs20 C T 1: 5,140,238 (GRCm39) V55I probably benign Het
Ros1 T G 10: 52,020,969 (GRCm39) T648P possibly damaging Het
Rpgr T C X: 10,074,948 (GRCm39) I233V possibly damaging Het
Slc25a31 T C 3: 40,679,308 (GRCm39) S258P probably benign Het
Soat1 A C 1: 156,261,766 (GRCm39) V414G probably damaging Het
St18 A T 1: 6,903,818 (GRCm39) E693V probably damaging Het
Svil T C 18: 5,063,555 (GRCm39) V1029A probably benign Het
Tnfaip3 C A 10: 18,880,874 (GRCm39) V398L probably damaging Het
Ubap1 A G 4: 41,379,562 (GRCm39) T259A probably benign Het
Wdr7 A G 18: 64,060,398 (GRCm39) E1347G possibly damaging Het
Other mutations in Camkmt
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00433:Camkmt APN 17 85,404,094 (GRCm39) splice site probably benign
IGL00786:Camkmt APN 17 85,403,919 (GRCm39) missense probably damaging 0.99
IGL02604:Camkmt APN 17 85,404,053 (GRCm39) missense possibly damaging 0.74
IGL02809:Camkmt APN 17 85,702,076 (GRCm39) missense probably damaging 1.00
R0465:Camkmt UTSW 17 85,738,950 (GRCm39) missense probably damaging 0.99
R0537:Camkmt UTSW 17 85,702,087 (GRCm39) missense probably benign 0.01
R1573:Camkmt UTSW 17 85,403,958 (GRCm39) missense probably damaging 0.98
R2442:Camkmt UTSW 17 85,398,203 (GRCm39) missense possibly damaging 0.51
R2878:Camkmt UTSW 17 85,738,979 (GRCm39) splice site probably benign
R5121:Camkmt UTSW 17 85,404,009 (GRCm39) missense probably benign 0.00
R5174:Camkmt UTSW 17 85,759,665 (GRCm39) missense probably benign
R6006:Camkmt UTSW 17 85,759,666 (GRCm39) missense possibly damaging 0.71
R6587:Camkmt UTSW 17 85,421,243 (GRCm39) missense possibly damaging 0.74
R6726:Camkmt UTSW 17 85,702,037 (GRCm39) missense probably damaging 0.98
R7301:Camkmt UTSW 17 85,738,921 (GRCm39) missense probably benign 0.10
R7523:Camkmt UTSW 17 85,699,056 (GRCm39) missense probably benign 0.01
R7911:Camkmt UTSW 17 85,759,866 (GRCm39) splice site probably null
R8341:Camkmt UTSW 17 85,747,008 (GRCm39) missense probably damaging 1.00
R8691:Camkmt UTSW 17 85,421,260 (GRCm39) missense probably damaging 1.00
R8710:Camkmt UTSW 17 85,421,277 (GRCm39) critical splice donor site probably benign
R9049:Camkmt UTSW 17 85,709,912 (GRCm39) missense possibly damaging 0.68
R9119:Camkmt UTSW 17 85,403,988 (GRCm39) missense probably damaging 1.00
R9652:Camkmt UTSW 17 85,759,713 (GRCm39) missense probably benign 0.04
Posted On 2012-12-06