Incidental Mutation 'R6375:Efhc1'
ID 514895
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 044525-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.079) question?
Stock # R6375 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 21021850-21061065 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 21043164 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 361 (M361K)
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: M361K

PolyPhen 2 Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000042343
Gene: ENSMUSG00000041809
AA Change: M361K

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.2%
  • 20x: 97.2%
Validation Efficiency 100% (45/45)
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca3 T A 17: 24,606,536 (GRCm39) I797N possibly damaging Het
Actbl2 A G 13: 111,392,478 (GRCm39) E271G probably damaging Het
Aplp2 T C 9: 31,069,084 (GRCm39) N526D probably benign Het
Cacna1e A C 1: 154,355,051 (GRCm39) N389K probably damaging Het
Ccdc18 T C 5: 108,322,820 (GRCm39) I640T possibly damaging Het
Ccdc39 T A 3: 33,868,516 (GRCm39) T857S probably benign Het
Ccser1 T A 6: 61,288,152 (GRCm39) L105* probably null Het
Eml5 T C 12: 98,765,127 (GRCm39) Het
Fgfr2 C A 7: 129,769,475 (GRCm39) L637F probably damaging Het
Fmo9 A G 1: 166,492,164 (GRCm39) probably null Het
Gm4302 A G 10: 100,177,258 (GRCm39) T181A probably benign Het
Gpat2 G C 2: 127,273,838 (GRCm39) G294R possibly damaging Het
Hoxb4 A G 11: 96,211,153 (GRCm39) *251W probably null Het
Il1r1 T A 1: 40,334,050 (GRCm39) Y207N probably damaging Het
Kcnc2 C T 10: 112,299,094 (GRCm39) T622M possibly damaging Het
Kcnk9 C T 15: 72,418,092 (GRCm39) A13T probably benign Het
Kdm4c C T 4: 74,248,952 (GRCm39) P69S probably damaging Het
Kmt2e T C 5: 23,704,517 (GRCm39) S1237P probably benign Het
Lrrc37a G A 11: 103,391,915 (GRCm39) T1170I probably benign Het
Lyn T A 4: 3,745,527 (GRCm39) F109I probably damaging Het
Lynx1 T C 15: 74,623,168 (GRCm39) Y88C probably damaging Het
Mon1b T A 8: 114,364,709 (GRCm39) I162N probably damaging Het
Muc4 A G 16: 32,555,061 (GRCm39) probably benign Het
Nbn T A 4: 15,979,327 (GRCm39) F437L probably benign Het
Neil3 T C 8: 54,040,311 (GRCm39) K564E possibly damaging Het
Nfe2l1 A T 11: 96,710,877 (GRCm39) S293T probably damaging Het
Or10al5 T A 17: 38,062,990 (GRCm39) S82T probably benign Het
Or14c39 C T 7: 86,344,267 (GRCm39) A201V probably benign Het
Or2ag2 C A 7: 106,485,221 (GRCm39) A268S probably benign Het
Or51g2 T C 7: 102,622,960 (GRCm39) T80A probably damaging Het
Pcdhb22 A T 18: 37,651,357 (GRCm39) probably benign Het
Pcdhgb6 A G 18: 37,875,678 (GRCm39) N129D probably damaging Het
Pias2 C T 18: 77,240,366 (GRCm39) T574M possibly damaging Het
Plec G A 15: 76,061,840 (GRCm39) T2564I probably damaging Het
Qrich2 A G 11: 116,349,054 (GRCm39) probably benign Het
Scgb1b12 T A 7: 32,033,884 (GRCm39) V48E probably damaging Het
Scn5a A T 9: 119,372,422 (GRCm39) L224Q probably damaging Het
Snx3 T A 10: 42,410,727 (GRCm39) Y132* probably null Het
Stk39 T A 2: 68,222,582 (GRCm39) I161F probably benign Het
Tcaf2 A C 6: 42,603,112 (GRCm39) L816R probably damaging Het
Thap4 C A 1: 93,652,878 (GRCm39) probably null Het
Tmc5 T A 7: 118,256,037 (GRCm39) V704E probably damaging Het
Tmem39a A G 16: 38,405,599 (GRCm39) T59A probably benign Het
Tshz2 A G 2: 169,727,939 (GRCm39) N376S probably damaging Het
Vmn1r60 T C 7: 5,548,017 (GRCm39) N28D probably damaging Het
Zfp637 C T 6: 117,822,285 (GRCm39) R138W 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
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
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
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'- GTACTCAGCTCTCATGTCAAGC -3'
(R):5'- ACTTTCATAGAGTGATGGGCTC -3'

Sequencing Primer
(F):5'- AACCCTGTCTCCTATTAGAGAATTTC -3'
(R):5'- CATAGAGTGATGGGCTCTGTATTTC -3'
Posted On 2018-05-04