Incidental Mutation 'R7523:Camkmt'
ID 582806
Institutional Source Beutler Lab
Gene Symbol Camkmt
Ensembl Gene ENSMUSG00000071037
Gene Name calmodulin-lysine N-methyltransferase
Synonyms 1700106N22Rik
MMRRC Submission 045595-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7523 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 85397989-85766017 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 85699056 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Methionine at position 144 (I144M)
Ref Sequence ENSEMBL: ENSMUSP00000092811 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095188]
AlphaFold Q3U2J5
Predicted Effect probably benign
Transcript: ENSMUST00000095188
AA Change: I144M

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000092811
Gene: ENSMUSG00000071037
AA Change: I144M

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
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (46/46)
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932414N04Rik T A 2: 68,492,824 (GRCm39) H40Q unknown Het
4932414N04Rik A T 2: 68,569,673 (GRCm39) Q463L probably benign Het
Ano4 C A 10: 88,807,257 (GRCm39) E775* probably null Het
Atp12a T C 14: 56,603,425 (GRCm39) V10A possibly damaging Het
Ciao2b G A 8: 105,368,404 (GRCm39) probably benign Het
Cyth1 TGGGCAA T 11: 118,074,749 (GRCm39) probably null Het
Dazl G A 17: 50,594,569 (GRCm39) T162I probably damaging Het
Dnah10 A G 5: 124,824,803 (GRCm39) K653R probably damaging Het
Exosc10 A T 4: 148,648,299 (GRCm39) probably null Het
Fbn2 T C 18: 58,199,152 (GRCm39) D1372G probably benign Het
Fxr1 T C 3: 34,093,692 (GRCm39) V23A probably benign Het
Gmps T C 3: 63,919,087 (GRCm39) I557T possibly damaging Het
Ifnab A T 4: 88,609,029 (GRCm39) Y146N probably damaging Het
Krt78 T C 15: 101,855,036 (GRCm39) Y925C not run Het
Lrp1b C T 2: 41,401,473 (GRCm39) V394M Het
Ltbp2 T C 12: 84,837,808 (GRCm39) T1211A probably benign Het
Man2a2 G C 7: 80,018,613 (GRCm39) A82G probably benign Het
Mdn1 A T 4: 32,667,270 (GRCm39) probably null Het
Myo15b A T 11: 115,781,684 (GRCm39) I2798F unknown Het
Nat3 T C 8: 68,000,226 (GRCm39) I35T probably damaging Het
Nectin2 A G 7: 19,464,037 (GRCm39) V314A probably benign Het
Nexn T C 3: 151,952,815 (GRCm39) R316G probably benign Het
Nfx1 A G 4: 41,016,119 (GRCm39) I894V probably benign Het
Or2c1 T C 16: 3,657,563 (GRCm39) V242A probably benign Het
Or8j3 T C 2: 86,028,389 (GRCm39) K236E probably damaging Het
Pdcd4 G T 19: 53,899,379 (GRCm39) V123F probably damaging Het
Pik3c3 C T 18: 30,426,708 (GRCm39) R275W probably damaging Het
Ppt2 A G 17: 34,845,777 (GRCm39) probably null Het
Prss35 T A 9: 86,637,427 (GRCm39) C66S probably damaging Het
Ptbp3 A G 4: 59,546,159 (GRCm39) V11A probably benign Het
Ptpn22 A G 3: 103,819,331 (GRCm39) N795S probably damaging Het
Ptprg T G 14: 12,237,130 (GRCm38) I1383S probably damaging Het
Rtel1 G A 2: 180,964,108 (GRCm39) V36M probably damaging Het
Sf3b3 A G 8: 111,540,352 (GRCm39) I1023T probably benign Het
Slc44a2 A G 9: 21,257,288 (GRCm39) E411G probably null Het
Stard9 T C 2: 120,530,078 (GRCm39) Y2112H probably benign Het
Tada2b T C 5: 36,634,111 (GRCm39) I156V probably benign Het
Tenm2 A T 11: 35,969,408 (GRCm39) probably null Het
Tle1 A T 4: 72,063,655 (GRCm39) S199R possibly damaging Het
Tubgcp2 A G 7: 139,586,783 (GRCm39) I399T probably benign Het
Ubr5 T C 15: 38,004,299 (GRCm39) N1344S Het
Vmn2r114 A G 17: 23,529,611 (GRCm39) F164L probably benign Het
Vps13a G T 19: 16,681,153 (GRCm39) T1041K probably benign Het
Zbtb20 T C 16: 43,430,875 (GRCm39) V389A probably benign Het
Zfp811 A T 17: 33,016,726 (GRCm39) I438N probably benign Het
Zfp90 A G 8: 107,150,545 (GRCm39) D86G probably benign 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
IGL00840:Camkmt APN 17 85,765,551 (GRCm39) nonsense probably null
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
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
Predicted Primers PCR Primer
(F):5'- AGGGACCATGCTGTTAAGTGTG -3'
(R):5'- ATCAAGAGCCTTTGACAGCC -3'

Sequencing Primer
(F):5'- AAGTGTGGTTGGATATGCAATGGC -3'
(R):5'- CTAAGGGCCATGTGGATACCTC -3'
Posted On 2019-10-17