Incidental Mutation 'R1293:Efhc1'
ID 150687
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 039359-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.079) question?
Stock # R1293 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 21021850-21061065 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 21048996 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 470 (T470A)
Ref Sequence ENSEMBL: ENSMUSP00000042343 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038447]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000038447
AA Change: T470A

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000042343
Gene: ENSMUSG00000041809
AA Change: T470A

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: 98.9%
  • 3x: 98.1%
  • 10x: 95.7%
  • 20x: 90.5%
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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acss2 G A 2: 155,393,141 (GRCm39) R289Q probably benign Het
Adgrl4 G A 3: 151,213,081 (GRCm39) E374K probably benign Het
Ate1 G A 7: 129,996,455 (GRCm39) R505C probably benign Het
Cntn4 T C 6: 106,330,685 (GRCm39) I101T probably benign Het
Dmtf1 T A 5: 9,190,383 (GRCm39) probably null Het
Dnah17 C A 11: 118,017,963 (GRCm39) probably null Het
Fam118b A T 9: 35,132,721 (GRCm39) Y313N probably damaging Het
Gm10142 T C 10: 77,551,869 (GRCm39) S77P probably benign Het
Kat8 T C 7: 127,521,422 (GRCm39) probably null Het
Lrp2 T C 2: 69,353,646 (GRCm39) probably null Het
Lrrc10 A G 10: 116,881,838 (GRCm39) T171A probably benign Het
Mcidas A G 13: 113,133,926 (GRCm39) T137A probably benign Het
Med1 G A 11: 98,047,862 (GRCm39) T978I possibly damaging Het
Muc6 C A 7: 141,238,255 (GRCm39) C75F probably damaging Het
Olfm3 A G 3: 114,895,579 (GRCm39) I154V possibly damaging Het
Or2ag15 A G 7: 106,341,058 (GRCm39) C28R probably damaging Het
Or2y12 G A 11: 49,426,393 (GRCm39) C127Y probably damaging Het
Or5ak22 T A 2: 85,230,697 (GRCm39) probably null Het
Or7g30 A T 9: 19,352,728 (GRCm39) E173V probably benign Het
Rsrc1 G A 3: 67,263,612 (GRCm39) R324Q probably damaging Het
Samd9l G T 6: 3,373,947 (GRCm39) P1105T possibly damaging Het
Sgcb C A 5: 73,792,870 (GRCm39) V311F probably benign Het
Siglec1 A G 2: 130,915,451 (GRCm39) V1380A probably benign Het
Spred1 C T 2: 117,007,889 (GRCm39) P265L probably damaging Het
Unc13b T A 4: 43,235,190 (GRCm39) H3259Q probably damaging Het
Unc13c C T 9: 73,481,356 (GRCm39) D1694N probably benign Het
Usp24 A G 4: 106,280,750 (GRCm39) R2355G probably benign Het
Vmn1r53 T A 6: 90,201,196 (GRCm39) N43Y possibly damaging Het
Wtip T C 7: 33,809,646 (GRCm39) S359G possibly damaging Het
Zfp984 T A 4: 147,840,398 (GRCm39) K151M possibly damaging 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
R1414:Efhc1 UTSW 1 21,031,513 (GRCm39) missense probably damaging 1.00
R1644:Efhc1 UTSW 1 21,037,625 (GRCm39) nonsense probably null
R1799:Efhc1 UTSW 1 21,049,762 (GRCm39) missense probably benign 0.00
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'- TCCTGAGATGAAGCCTGTCTGTCC -3'
(R):5'- GCTTAAGAATGCAGTGTGTCACAGC -3'

Sequencing Primer
(F):5'- TGGACCCTCAATACATGGAATG -3'
(R):5'- GCTACAAAGAATCCATTTTCCAGGG -3'
Posted On 2014-01-29