Incidental Mutation 'R4727:Calm1'
ID 358554
Institutional Source Beutler Lab
Gene Symbol Calm1
Ensembl Gene ENSMUSG00000001175
Gene Name calmodulin 1
Synonyms
MMRRC Submission 041602-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.912) question?
Stock # R4727 (G1)
Quality Score 132
Status Not validated
Chromosome 12
Chromosomal Location 100165694-100176073 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 100166485 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 23 (F23S)
Ref Sequence ENSEMBL: ENSMUSP00000001204 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001204] [ENSMUST00000110082]
AlphaFold P0DP26
P0DP27
P0DP28
Predicted Effect probably benign
Transcript: ENSMUST00000001204
AA Change: F23S

PolyPhen 2 Score 0.081 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000001204
Gene: ENSMUSG00000001175
AA Change: F23S

DomainStartEndE-ValueType
low complexity region 34 50 N/A INTRINSIC
EFh 60 88 6.39e-9 SMART
EFh 96 124 5.19e-9 SMART
EFh 133 161 3.67e-9 SMART
EFh 169 197 1.13e-9 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000110082
SMART Domains Protein: ENSMUSP00000105709
Gene: ENSMUSG00000001175

DomainStartEndE-ValueType
EFh 12 40 6.39e-9 SMART
EFh 48 76 5.19e-9 SMART
EFh 85 113 3.67e-9 SMART
EFh 121 149 1.13e-9 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153524
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 95.0%
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of the EF-hand calcium-binding protein family. The encoded protein acts as a calcium sensor and is involved in relaying signals to calcium-sensitive proteins, enzymes and ion channels. The protein-calcium complex binds target proteins to regulate several cellular processes, including smooth muscle contraction, inflammation, apoptosis and the immune response. Mutations in the human gene are associated with catecholaminergic polymorphic ventricular tachycardia and long QT syndrome 14. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2015]
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcd2 T C 15: 91,062,489 (GRCm39) N483S probably benign Het
Acoxl T G 2: 127,820,658 (GRCm39) L70R probably damaging Het
Ankrd44 A T 1: 54,706,576 (GRCm39) F627I probably benign Het
Ash2l A T 8: 26,308,623 (GRCm39) I552N probably damaging Het
B4galt1 A G 4: 40,807,812 (GRCm39) S330P probably damaging Het
Bnip3 T C 7: 138,500,435 (GRCm39) S52G probably damaging Het
Btd A G 14: 31,384,278 (GRCm39) Q88R probably benign Het
C4bp A G 1: 130,566,922 (GRCm39) V318A probably benign Het
Cacna1e G A 1: 154,312,214 (GRCm39) Q1530* probably null Het
Cep290 T G 10: 100,399,132 (GRCm39) I2218R probably benign Het
Ces2c T C 8: 105,574,672 (GRCm39) I43T probably benign Het
Cyp2d9 T C 15: 82,338,602 (GRCm39) L1P probably null Het
Dgki C A 6: 37,276,748 (GRCm39) probably benign Het
Dhh A G 15: 98,796,023 (GRCm39) L44P probably damaging Het
Dnah12 A G 14: 26,594,274 (GRCm39) I3409V probably damaging Het
Dnah7b G A 1: 46,246,816 (GRCm39) R1664H probably damaging Het
Dnah8 T C 17: 31,070,721 (GRCm39) M4469T probably damaging Het
Ehhadh T C 16: 21,581,181 (GRCm39) I604V probably benign Het
Esr1 A G 10: 4,951,418 (GRCm39) I599V probably benign Het
Faf1 G A 4: 109,697,564 (GRCm39) D297N probably damaging Het
Gfra1 A T 19: 58,252,386 (GRCm39) N380K probably damaging Het
Ghitm A G 14: 36,855,700 (GRCm39) C8R probably damaging Het
Ifna4 C A 4: 88,760,519 (GRCm39) T141K probably benign Het
Itsn2 A G 12: 4,757,660 (GRCm39) Y1424C probably damaging Het
Kcnj10 A G 1: 172,197,266 (GRCm39) D260G probably damaging Het
Klf16 T C 10: 80,405,020 (GRCm39) D164G probably damaging Het
Klhdc7b T A 15: 89,271,785 (GRCm39) L889Q probably damaging Het
Lcmt2 C G 2: 120,969,911 (GRCm39) V171L probably benign Het
Lrp11 A G 10: 7,466,348 (GRCm39) E153G probably benign Het
Lrrc43 A T 5: 123,632,366 (GRCm39) T170S probably damaging Het
Lsr T C 7: 30,665,465 (GRCm39) Y163C probably damaging Het
Man1a A T 10: 53,783,668 (GRCm39) probably null Het
Mmp24 C T 2: 155,657,819 (GRCm39) P570S possibly damaging Het
Ms4a3 A G 19: 11,608,742 (GRCm39) M170T probably damaging Het
Naip5 C A 13: 100,358,378 (GRCm39) A953S possibly damaging Het
Nfrkb T C 9: 31,314,919 (GRCm39) S580P probably damaging Het
Or51q1c T G 7: 103,653,097 (GRCm39) V205G probably benign Het
Or8b38 T C 9: 37,973,389 (GRCm39) Y258H probably damaging Het
Padi6 T G 4: 140,458,506 (GRCm39) D462A probably damaging Het
Pde6a A G 18: 61,364,561 (GRCm39) R206G probably benign Het
Plk4 A G 3: 40,759,589 (GRCm39) N162D probably benign Het
Ptpn13 T A 5: 103,717,721 (GRCm39) D1922E probably benign Het
Rangap1 G A 15: 81,613,956 (GRCm39) probably benign Het
Rapgef3 A G 15: 97,658,481 (GRCm39) L175P probably damaging Het
Rps6kb1 G C 11: 86,435,484 (GRCm39) probably null Het
Satb1 T C 17: 52,111,375 (GRCm39) Y161C probably damaging Het
Sel1l3 C A 5: 53,301,525 (GRCm39) probably null Het
Slc17a7 C T 7: 44,822,358 (GRCm39) S398L possibly damaging Het
Slc22a4 T A 11: 53,918,477 (GRCm39) E109V possibly damaging Het
Slc26a7 C T 4: 14,590,477 (GRCm39) A105T probably damaging Het
Slc47a1 T C 11: 61,254,277 (GRCm39) N145S possibly damaging Het
Tank A G 2: 61,483,876 (GRCm39) T441A probably benign Het
Tefm T C 11: 80,031,279 (GRCm39) probably benign Het
Ttbk2 T C 2: 120,575,851 (GRCm39) Y1042C probably benign Het
Wdfy3 T C 5: 102,077,894 (GRCm39) Q892R probably damaging Het
Wdr33 T A 18: 32,021,500 (GRCm39) H683Q unknown Het
Zfp36l2 T A 17: 84,495,089 (GRCm39) I12F probably benign Het
Zfyve26 A T 12: 79,291,170 (GRCm39) M2145K probably benign Het
Other mutations in Calm1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02281:Calm1 APN 12 100,171,883 (GRCm39) missense probably damaging 1.00
G1Funyon:Calm1 UTSW 12 100,171,944 (GRCm39) missense probably benign 0.00
R4817:Calm1 UTSW 12 100,169,832 (GRCm39) critical splice acceptor site probably null
R5187:Calm1 UTSW 12 100,166,472 (GRCm39) missense probably benign 0.10
R8174:Calm1 UTSW 12 100,171,967 (GRCm39) missense probably benign
R8301:Calm1 UTSW 12 100,171,944 (GRCm39) missense probably benign 0.00
R9178:Calm1 UTSW 12 100,171,979 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- GAACCTCCTCTGAGTTTTGGGC -3'
(R):5'- TCTAATGGAAACCGAGGAGC -3'

Sequencing Primer
(F):5'- TCTGGGGCTGGACTCTACAG -3'
(R):5'- AGCGCGCCAACTCTCTC -3'
Posted On 2015-11-11