Incidental Mutation 'R1799:Efhc1'
ID 202881
Institutional Source Beutler Lab
Gene Symbol Efhc1
Ensembl Gene ENSMUSG00000041809
Gene Name EF-hand domain (C-terminal) containing 1
Synonyms 1700029F22Rik, myoclonin1, mRib72-1
MMRRC Submission 039829-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.079) question?
Stock # R1799 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 21021850-21061065 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 21049762 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 541 (P541S)
Ref Sequence ENSEMBL: ENSMUSP00000042343 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038447]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000038447
AA Change: P541S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000042343
Gene: ENSMUSG00000041809
AA Change: P541S

DomainStartEndE-ValueType
DM10 93 198 2.74e-52 SMART
DM10 239 359 3.04e-59 SMART
DM10 416 520 8.05e-50 SMART
SCOP:d1sra__ 538 646 2e-12 SMART
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 96.9%
  • 10x: 95.3%
  • 20x: 92.3%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an EF-hand-containing calcium binding protein. The encoded protein likely plays a role in calcium homeostasis. Mutations in this gene have been associated with susceptibility to juvenile myoclonic epilepsy and juvenile absence epilepsy. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2010]
PHENOTYPE: Mice homozygous or heterozygous for a null mutation display myoclonus and increased susceptibility to pharmacologically induced seizures. Homozygous mice also display enlarged brain ventricles and reduced hippocampal size. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 102 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930011G23Rik A G 5: 99,382,435 (GRCm39) L271P probably benign Het
Adamts3 A C 5: 89,923,280 (GRCm39) D175E probably benign Het
Adcy4 T C 14: 56,008,929 (GRCm39) T833A probably benign Het
Adgrf5 A T 17: 43,750,958 (GRCm39) I508F probably damaging Het
Arhgap9 G T 10: 127,163,593 (GRCm39) V464L probably damaging Het
Atp10a T A 7: 58,474,182 (GRCm39) D1156E probably damaging Het
Atp2a1 A T 7: 126,049,314 (GRCm39) M576K probably benign Het
Atrx T C X: 104,891,235 (GRCm39) Q1536R probably damaging Het
Ccdc141 A C 2: 76,842,015 (GRCm39) V1472G possibly damaging Het
Cd84 A G 1: 171,700,317 (GRCm39) T145A possibly damaging Het
Celsr1 G T 15: 85,916,886 (GRCm39) N362K probably damaging Het
Cep290 G A 10: 100,352,058 (GRCm39) A755T probably benign Het
Cfap70 T A 14: 20,445,067 (GRCm39) E1071V probably damaging Het
Cps1 T C 1: 67,248,801 (GRCm39) V1176A probably damaging Het
Csf2rb2 A C 15: 78,181,268 (GRCm39) N41K probably damaging Het
Csn1s2a G A 5: 87,926,052 (GRCm39) V43M probably damaging Het
Cyp26b1 T C 6: 84,561,254 (GRCm39) D136G probably benign Het
Cyp7b1 A G 3: 18,151,616 (GRCm39) L199P probably benign Het
Dapk1 C T 13: 60,867,468 (GRCm39) T225I probably damaging Het
Dio2 T A 12: 90,696,680 (GRCm39) T103S probably benign Het
Dipk1a C A 5: 108,057,713 (GRCm39) V237F probably damaging Het
Dnhd1 T A 7: 105,304,974 (GRCm39) S339T probably benign Het
Drc1 A G 5: 30,523,841 (GRCm39) N737D probably damaging Het
Elmo2 A T 2: 165,134,077 (GRCm39) I637N probably damaging Het
Eps15 T A 4: 109,240,034 (GRCm39) D492E probably damaging Het
Ermn G T 2: 57,938,249 (GRCm39) N121K probably benign Het
F5 A G 1: 164,021,100 (GRCm39) T1192A possibly damaging Het
Fbxo22 T C 9: 55,130,771 (GRCm39) F347L probably benign Het
Fbxw15 G A 9: 109,387,314 (GRCm39) S227F probably damaging Het
Foxj3 A G 4: 119,476,548 (GRCm39) N242S probably benign Het
Gjb3 G A 4: 127,220,224 (GRCm39) R103W probably damaging Het
Grm4 A G 17: 27,691,914 (GRCm39) V235A probably damaging Het
Gstm4 T C 3: 107,950,874 (GRCm39) N74S probably damaging Het
Gtf3c3 A G 1: 54,459,583 (GRCm39) V393A possibly damaging Het
Hltf T A 3: 20,159,855 (GRCm39) L702H probably damaging Het
Inpp4a T A 1: 37,432,059 (GRCm39) V153E possibly damaging Het
Kmt5c T C 7: 4,745,729 (GRCm39) probably null Het
Kynu A G 2: 43,494,169 (GRCm39) R201G possibly damaging Het
Lrp2 T A 2: 69,333,874 (GRCm39) T1456S probably benign Het
Lrrc40 G A 3: 157,742,441 (GRCm39) V19I probably benign Het
M1ap T A 6: 82,982,491 (GRCm39) C258* probably null Het
Man2a1 T C 17: 65,059,452 (GRCm39) L1113P probably benign Het
Man2a1 C T 17: 64,976,492 (GRCm39) R427W probably damaging Het
Meikin C A 11: 54,308,613 (GRCm39) Q404K probably benign Het
Mfsd4a T C 1: 131,981,334 (GRCm39) I222V possibly damaging Het
N4bp2 A G 5: 65,964,168 (GRCm39) N739S possibly damaging Het
Ncoa2 A T 1: 13,232,517 (GRCm39) probably null Het
Nisch G T 14: 30,899,228 (GRCm39) probably benign Het
Nmur2 A G 11: 55,920,447 (GRCm39) V266A probably damaging Het
Npcd G A 15: 79,712,987 (GRCm39) R147C probably damaging Het
Or4q3 T A 14: 50,583,537 (GRCm39) M121L probably benign Het
Or5ac25 T A 16: 59,182,243 (GRCm39) I113F probably benign Het
Pals2 T A 6: 50,173,525 (GRCm39) M463K probably damaging Het
Parp4 A T 14: 56,885,589 (GRCm39) H1556L unknown Het
Pcdh9 G T 14: 94,126,107 (GRCm39) A21E probably benign Het
Phtf1 A G 3: 103,903,958 (GRCm39) E436G probably benign Het
Piezo2 C A 18: 63,165,911 (GRCm39) probably null Het
Piezo2 T C 18: 63,241,158 (GRCm39) Y690C probably damaging Het
Pla2g4f T C 2: 120,141,549 (GRCm39) R183G possibly damaging Het
Plxnd1 T C 6: 115,971,018 (GRCm39) D250G probably damaging Het
Ppig A G 2: 69,579,744 (GRCm39) D426G unknown Het
Ppp3cb T C 14: 20,574,540 (GRCm39) E185G possibly damaging Het
Qsox1 A T 1: 155,670,364 (GRCm39) M151K probably null Het
Ralgapa2 T C 2: 146,184,648 (GRCm39) E1453G probably benign Het
Rnf167 G A 11: 70,540,838 (GRCm39) V191I probably benign Het
Rp1 T C 1: 4,419,055 (GRCm39) K686E possibly damaging Het
Ryr1 T G 7: 28,767,046 (GRCm39) Q2979P probably damaging Het
Scaf1 T A 7: 44,657,443 (GRCm39) I479F probably damaging Het
Septin8 A G 11: 53,425,310 (GRCm39) T68A probably benign Het
Sh3rf1 A T 8: 61,825,661 (GRCm39) N552I probably damaging Het
Shoc1 A T 4: 59,099,383 (GRCm39) V103D possibly damaging Het
Slc1a3 A G 15: 8,717,888 (GRCm39) L68P probably damaging Het
Slc39a6 G A 18: 24,718,524 (GRCm39) P511L probably benign Het
Slc9c1 A G 16: 45,374,652 (GRCm39) Y339C probably damaging Het
Smarcal1 G T 1: 72,625,120 (GRCm39) C89F probably damaging Het
Smu1 A T 4: 40,745,537 (GRCm39) M261K probably damaging Het
Spag8 T G 4: 43,653,087 (GRCm39) probably benign Het
Spag8 T C 4: 43,653,345 (GRCm39) probably benign Het
Spata31d1a T C 13: 59,851,216 (GRCm39) D304G probably benign Het
Spdl1 A T 11: 34,711,856 (GRCm39) L298* probably null Het
Stac2 C T 11: 97,930,444 (GRCm39) probably null Het
Stag1 A G 9: 100,835,515 (GRCm39) probably null Het
Stpg2 C T 3: 139,125,542 (GRCm39) P445L probably damaging Het
Sult2a8 A T 7: 14,157,451 (GRCm39) V128E probably damaging Het
Synm A G 7: 67,385,707 (GRCm39) F210L probably damaging Het
Tbck C G 3: 132,480,263 (GRCm39) A714G probably benign Het
Tcerg1 A T 18: 42,694,012 (GRCm39) Y711F possibly damaging Het
Tnfrsf25 A G 4: 152,201,465 (GRCm39) T98A probably benign Het
Togaram2 T C 17: 71,998,450 (GRCm39) S218P probably damaging Het
Tpp1 A T 7: 105,399,515 (GRCm39) D84E probably benign Het
Trim30d G T 7: 104,132,682 (GRCm39) Q202K probably damaging Het
Trim37 T A 11: 87,068,845 (GRCm39) V397E probably damaging Het
Triml1 A T 8: 43,583,512 (GRCm39) I363N probably damaging Het
Trpm6 T A 19: 18,869,363 (GRCm39) probably null Het
Tsc2 T C 17: 24,823,382 (GRCm39) S1055G probably benign Het
Ubr5 T C 15: 37,989,621 (GRCm39) D2065G probably damaging Het
Uggt2 G T 14: 119,269,688 (GRCm39) P948Q probably benign Het
Vps13c A T 9: 67,851,399 (GRCm39) S2345C probably damaging Het
Wtap G T 17: 13,199,771 (GRCm39) R48S possibly damaging Het
Zbtb38 A G 9: 96,570,934 (GRCm39) V50A probably damaging Het
Zcchc2 T A 1: 105,958,017 (GRCm39) S829R probably benign Het
Zfp385b T C 2: 77,246,316 (GRCm39) D237G probably benign Het
Other mutations in Efhc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00514:Efhc1 APN 1 21,049,705 (GRCm39) nonsense probably null
IGL00549:Efhc1 APN 1 21,049,705 (GRCm39) nonsense probably null
IGL01611:Efhc1 APN 1 21,060,911 (GRCm39) makesense probably null
IGL01916:Efhc1 APN 1 21,048,973 (GRCm39) missense probably damaging 1.00
IGL02366:Efhc1 APN 1 21,030,486 (GRCm39) missense probably damaging 0.99
IGL02567:Efhc1 APN 1 21,043,188 (GRCm39) missense probably damaging 0.98
IGL02590:Efhc1 APN 1 21,037,608 (GRCm39) missense probably damaging 1.00
IGL02869:Efhc1 APN 1 21,037,567 (GRCm39) missense probably damaging 0.96
IGL03264:Efhc1 APN 1 21,037,715 (GRCm39) missense probably benign
IGL03292:Efhc1 APN 1 21,030,496 (GRCm39) missense possibly damaging 0.89
IGL03097:Efhc1 UTSW 1 21,043,049 (GRCm39) missense probably damaging 1.00
P0023:Efhc1 UTSW 1 21,025,751 (GRCm39) missense probably benign
R0180:Efhc1 UTSW 1 21,037,713 (GRCm39) missense probably benign
R0220:Efhc1 UTSW 1 21,037,582 (GRCm39) missense probably damaging 0.98
R0391:Efhc1 UTSW 1 21,030,412 (GRCm39) missense probably damaging 1.00
R0765:Efhc1 UTSW 1 21,048,876 (GRCm39) missense probably benign 0.00
R1293:Efhc1 UTSW 1 21,048,996 (GRCm39) missense probably damaging 0.96
R1414:Efhc1 UTSW 1 21,031,513 (GRCm39) missense probably damaging 1.00
R1644:Efhc1 UTSW 1 21,037,625 (GRCm39) nonsense probably null
R1932:Efhc1 UTSW 1 21,037,624 (GRCm39) missense probably damaging 1.00
R1991:Efhc1 UTSW 1 21,059,784 (GRCm39) nonsense probably null
R2103:Efhc1 UTSW 1 21,059,784 (GRCm39) nonsense probably null
R3956:Efhc1 UTSW 1 21,048,890 (GRCm39) missense probably damaging 0.96
R4812:Efhc1 UTSW 1 21,060,871 (GRCm39) missense probably damaging 0.99
R5064:Efhc1 UTSW 1 21,045,187 (GRCm39) missense possibly damaging 0.91
R5562:Efhc1 UTSW 1 21,043,104 (GRCm39) missense probably damaging 0.98
R5800:Efhc1 UTSW 1 21,049,005 (GRCm39) missense probably benign 0.00
R5948:Efhc1 UTSW 1 21,043,052 (GRCm39) missense probably damaging 0.99
R5977:Efhc1 UTSW 1 21,030,442 (GRCm39) missense probably damaging 1.00
R6313:Efhc1 UTSW 1 21,049,652 (GRCm39) missense possibly damaging 0.69
R6375:Efhc1 UTSW 1 21,043,164 (GRCm39) missense probably benign 0.05
R6512:Efhc1 UTSW 1 21,030,573 (GRCm39) missense probably damaging 0.99
R6530:Efhc1 UTSW 1 21,031,366 (GRCm39) splice site probably null
R6865:Efhc1 UTSW 1 21,030,442 (GRCm39) missense probably damaging 1.00
R7398:Efhc1 UTSW 1 21,059,744 (GRCm39) missense probably benign
R7656:Efhc1 UTSW 1 21,031,281 (GRCm39) splice site probably null
R7676:Efhc1 UTSW 1 21,037,593 (GRCm39) missense probably damaging 1.00
R7719:Efhc1 UTSW 1 21,049,744 (GRCm39) missense probably benign
R7775:Efhc1 UTSW 1 21,049,685 (GRCm39) missense probably damaging 1.00
R7778:Efhc1 UTSW 1 21,049,685 (GRCm39) missense probably damaging 1.00
R7824:Efhc1 UTSW 1 21,049,685 (GRCm39) missense probably damaging 1.00
R7857:Efhc1 UTSW 1 21,045,226 (GRCm39) missense probably benign 0.11
R7970:Efhc1 UTSW 1 21,022,019 (GRCm39) missense probably benign 0.12
R8187:Efhc1 UTSW 1 21,030,396 (GRCm39) missense probably damaging 1.00
R8485:Efhc1 UTSW 1 21,030,460 (GRCm39) missense possibly damaging 0.95
R8752:Efhc1 UTSW 1 21,059,692 (GRCm39) missense probably benign
R8862:Efhc1 UTSW 1 21,037,573 (GRCm39) missense
R9086:Efhc1 UTSW 1 21,025,592 (GRCm39) missense probably damaging 1.00
R9328:Efhc1 UTSW 1 21,030,598 (GRCm39) missense probably damaging 1.00
R9619:Efhc1 UTSW 1 21,037,603 (GRCm39) missense probably benign 0.03
R9625:Efhc1 UTSW 1 21,049,738 (GRCm39) missense probably benign 0.00
R9747:Efhc1 UTSW 1 21,048,928 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTGCTCCTGCTTGCATGAG -3'
(R):5'- GTCTGCCCAACAGCTTCTAC -3'

Sequencing Primer
(F):5'- GCTCCTGCTTGCATGAGAGAAAC -3'
(R):5'- GATACTTAAGGGTCTCCTCAGGC -3'
Posted On 2014-06-23