Incidental Mutation 'R8301:Calm1'
ID 639278
Institutional Source Beutler Lab
Gene Symbol Calm1
Ensembl Gene ENSMUSG00000001175
Gene Name calmodulin 1
MMRRC Submission 067789-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.923) question?
Stock # R8301 (G1)
Quality Score 225.009
Status Validated
Chromosome 12
Chromosomal Location 100199435-100209814 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 100205685 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 132 (E132G)
Ref Sequence ENSEMBL: ENSMUSP00000001204 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001204] [ENSMUST00000110082]
AlphaFold P0DP26
Predicted Effect probably benign
Transcript: ENSMUST00000001204
AA Change: E132G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000001204
Gene: ENSMUSG00000001175
AA Change: E132G

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 damaging
Transcript: ENSMUST00000110082
AA Change: E84G

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000105709
Gene: ENSMUSG00000001175
AA Change: E84G

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
Meta Mutation Damage Score 0.2577 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 100% (71/71)
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310003L06Rik A T 5: 87,972,505 (GRCm38) I374F probably benign Het
Ak9 G A 10: 41,424,716 (GRCm38) V1108I Het
Aldh16a1 C T 7: 45,141,982 (GRCm38) A790T possibly damaging Het
Anks1 A T 17: 28,059,580 (GRCm38) probably benign Het
Antxr2 T G 5: 97,977,679 (GRCm38) T240P probably benign Het
Arfgef1 A T 1: 10,179,833 (GRCm38) M945K probably damaging Het
Arhgef17 T C 7: 100,879,659 (GRCm38) T1591A probably benign Het
Aurka A G 2: 172,356,930 (GRCm38) S374P probably damaging Het
Bccip T C 7: 133,719,204 (GRCm38) S236P probably benign Het
Cacna1s T A 1: 136,073,441 (GRCm38) probably benign Het
Casz1 A G 4: 148,946,043 (GRCm38) D1173G probably damaging Het
Cdh17 A G 4: 11,795,659 (GRCm38) D413G probably damaging Het
Cfap57 A G 4: 118,593,074 (GRCm38) I617T possibly damaging Het
Creb5 A G 6: 53,681,033 (GRCm38) D116G possibly damaging Het
Csnka2ip A C 16: 64,478,991 (GRCm38) S337A unknown Het
Ddx60 A G 8: 62,000,597 (GRCm38) E1250G probably benign Het
Dlgap2 T A 8: 14,823,577 (GRCm38) S727T probably benign Het
Dpy19l1 T C 9: 24,485,111 (GRCm38) probably benign Het
Ebf2 A G 14: 67,238,982 (GRCm38) T134A possibly damaging Het
Echdc2 A T 4: 108,172,909 (GRCm38) M136L probably benign Het
Enpp2 A G 15: 54,851,407 (GRCm38) F598S probably benign Het
Extl3 A C 14: 65,076,284 (GRCm38) L483R probably damaging Het
Gcat T C 15: 79,035,889 (GRCm38) V227A possibly damaging Het
Hsf2 A G 10: 57,505,346 (GRCm38) D344G probably damaging Het
Ighm C T 12: 113,421,545 (GRCm38) G265D Het
Igsf9b T G 9: 27,334,739 (GRCm38) probably benign Het
Ints6 A G 14: 62,702,453 (GRCm38) V596A probably benign Het
Ints8 T C 4: 11,246,120 (GRCm38) E182G probably damaging Het
Iqgap2 A G 13: 95,682,151 (GRCm38) probably null Het
Kalrn G T 16: 34,357,100 (GRCm38) Q250K probably benign Het
Lrrc1 T A 9: 77,544,488 (GRCm38) N46Y probably damaging Het
Myl10 G C 5: 136,697,971 (GRCm38) V70L probably benign Het
Naa50 A G 16: 44,157,131 (GRCm38) N74S probably benign Het
Neb T C 2: 52,288,835 (GRCm38) N1303S probably benign Het
Nfs1 A T 2: 156,134,493 (GRCm38) C160* probably null Het
Or11g7 T A 14: 50,453,564 (GRCm38) S171T probably benign Het
Or52s1b T G 7: 103,173,073 (GRCm38) K188T probably damaging Het
Or5p52 A G 7: 107,903,626 (GRCm38) K303R probably benign Het
Or6c76 T C 10: 129,776,840 (GRCm38) S309P probably benign Het
Orm2 T C 4: 63,363,026 (GRCm38) F67S possibly damaging Het
Pex5 A G 6: 124,405,183 (GRCm38) S180P probably benign Het
Phf14 G C 6: 11,992,062 (GRCm38) G746R probably damaging Het
Pkm T A 9: 59,668,631 (GRCm38) V110E probably damaging Het
Plekha6 T G 1: 133,264,687 (GRCm38) N78K probably damaging Het
Plxna2 G A 1: 194,790,175 (GRCm38) V1076I probably benign Het
Polq C A 16: 37,061,819 (GRCm38) D1448E probably damaging Het
Pot1b T C 17: 55,687,895 (GRCm38) T256A probably benign Het
Prkch C T 12: 73,702,764 (GRCm38) T377I possibly damaging Het
Prl3c1 A C 13: 27,199,185 (GRCm38) probably benign Het
Prl7b1 A C 13: 27,602,772 (GRCm38) V158G possibly damaging Het
Prss22 T C 17: 23,993,981 (GRCm38) S261G probably damaging Het
Psd T C 19: 46,321,102 (GRCm38) probably benign Het
Psg18 A T 7: 18,353,377 (GRCm38) Y119N probably damaging Het
Rbm6 T G 9: 107,852,794 (GRCm38) R218S probably damaging Het
Rnf213 T A 11: 119,434,742 (GRCm38) S1491T Het
Rsf1 T C 7: 97,661,925 (GRCm38) S621P Het
Runx1 C A 16: 92,605,656 (GRCm38) *466L probably null Het
Samd4 A G 14: 47,016,678 (GRCm38) I200V probably benign Het
Sdsl C T 5: 120,459,519 (GRCm38) C241Y probably benign Het
Selenon T C 4: 134,551,414 (GRCm38) probably benign Het
Setx C T 2: 29,145,690 (GRCm38) P729L possibly damaging Het
Sf1 C T 19: 6,368,366 (GRCm38) Q55* probably null Het
Slc12a5 A T 2: 164,993,691 (GRCm38) N833I probably damaging Het
Slc1a4 T C 11: 20,332,286 (GRCm38) R63G probably damaging Het
Tmeff2 G T 1: 51,181,837 (GRCm38) A324S probably benign Het
Tmem217 A G 17: 29,526,492 (GRCm38) I88T possibly damaging Het
Tnfsf8 A T 4: 63,860,878 (GRCm38) I61N probably benign Het
Tpbgl G T 7: 99,625,567 (GRCm38) A361E probably damaging Het
Trhde T A 10: 114,487,006 (GRCm38) E667V probably benign Het
Unc13b A G 4: 43,263,568 (GRCm38) T1598A probably benign Het
Vmn2r73 A T 7: 85,858,302 (GRCm38) C601S probably benign Het
Zfp873 C A 10: 82,060,879 (GRCm38) H481Q probably damaging Het
Other mutations in Calm1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02281:Calm1 APN 12 100,205,624 (GRCm38) missense probably damaging 1.00
G1Funyon:Calm1 UTSW 12 100,205,685 (GRCm38) missense probably benign 0.00
R4727:Calm1 UTSW 12 100,200,226 (GRCm38) missense probably benign 0.08
R4817:Calm1 UTSW 12 100,203,573 (GRCm38) critical splice acceptor site probably null
R5187:Calm1 UTSW 12 100,200,213 (GRCm38) missense probably benign 0.10
R8174:Calm1 UTSW 12 100,205,708 (GRCm38) missense probably benign
R9178:Calm1 UTSW 12 100,205,720 (GRCm38) critical splice donor site probably null
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2020-07-28