Incidental Mutation 'P0023:Efhc1'
ID 15776
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 038276-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.079) question?
Stock # P0023 (G1)
Quality Score
Status Validated
Chromosome 1
Chromosomal Location 21021850-21061065 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 21025751 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 86 (V86I)
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: V86I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000042343
Gene: ENSMUSG00000041809
AA Change: V86I

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160782
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 85.1%
  • 3x: 76.2%
  • 10x: 34.8%
  • 20x: 2.4%
Validation Efficiency 97% (62/64)
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: 19 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actr3 A T 1: 125,322,803 (GRCm39) probably null Het
Chp2 A G 7: 121,821,361 (GRCm39) N185S probably benign Het
Cited2 A G 10: 17,600,463 (GRCm39) D257G probably damaging Het
Clptm1l G T 13: 73,753,071 (GRCm39) R62L possibly damaging Het
Cmya5 C T 13: 93,225,854 (GRCm39) S3078N probably benign Het
Dcaf1 T A 9: 106,737,650 (GRCm39) F1169I probably benign Het
Fanci A C 7: 79,052,048 (GRCm39) D107A probably benign Het
Fyb1 A T 15: 6,681,335 (GRCm39) K74M probably damaging Het
Gapvd1 A G 2: 34,596,700 (GRCm39) probably benign Het
Gm11992 T C 11: 9,002,846 (GRCm39) Y70H probably damaging Het
Lrba A G 3: 86,325,242 (GRCm39) E1900G probably damaging Het
Lrpprc G A 17: 85,033,766 (GRCm39) T1037M probably benign Het
Or8b50 A G 9: 38,517,941 (GRCm39) Y60C probably damaging Het
Piezo2 A G 18: 63,519,271 (GRCm39) probably benign Het
Pld1 T C 3: 28,102,274 (GRCm39) S342P probably damaging Het
Prkag3 A G 1: 74,779,898 (GRCm39) L479P probably damaging Het
Rsf1 T C 7: 97,311,478 (GRCm39) I736T probably damaging Het
Tet2 C A 3: 133,192,654 (GRCm39) M593I probably benign Het
Ttpal T C 2: 163,453,729 (GRCm39) Y167H probably 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
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
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
Posted On 2012-12-21