Incidental Mutation 'IGL01293:Efhc2'
ID 73003
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Efhc2
Ensembl Gene ENSMUSG00000025038
Gene Name EF-hand domain (C-terminal) containing 2
Synonyms mRib72-2, 4933407D04Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.174) question?
Stock # IGL01293
Quality Score
Status
Chromosome X
Chromosomal Location 16998288-17185607 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 17073934 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Leucine at position 469 (I469L)
Ref Sequence ENSEMBL: ENSMUSP00000026014 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026014]
AlphaFold Q9D485
Predicted Effect probably benign
Transcript: ENSMUST00000026014
AA Change: I469L

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000026014
Gene: ENSMUSG00000025038
AA Change: I469L

DomainStartEndE-ValueType
DM10 75 182 2.04e-51 SMART
DM10 226 368 6.9e-49 SMART
DM10 430 537 2.52e-42 SMART
SCOP:d2mysb_ 560 693 9e-5 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein which contains three DM10 domains and three calcium-binding EF-hand motifs. A related protein is encoded by a gene on chromosome 6. It has been suggested that both proteins are involved in the development of epilepsy (PMID: 15258581, 16112844) and that this gene may be associated with fear recognition in individuals with Turner syndrome. [provided by RefSeq, Aug 2011]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl3 A G 4: 144,190,226 (GRCm39) V25A probably benign Het
Aadacl4fm5 G T 4: 144,504,159 (GRCm39) H331N probably benign Het
Aagab T C 9: 63,543,751 (GRCm39) V235A probably benign Het
Ash1l T C 3: 88,890,836 (GRCm39) V905A probably benign Het
Atrx A G X: 104,919,801 (GRCm39) S641P probably benign Het
Bnc1 T C 7: 81,624,237 (GRCm39) E330G probably damaging Het
Cenpq A T 17: 41,244,067 (GRCm39) S4T possibly damaging Het
Clvs1 T A 4: 9,281,559 (GRCm39) M1K probably null Het
Cul2 A G 18: 3,419,426 (GRCm39) K196E probably damaging Het
Cyp2d10 A T 15: 82,287,210 (GRCm39) V471E possibly damaging Het
Fhod3 C T 18: 25,153,709 (GRCm39) probably benign Het
Gm1968 A G 16: 29,777,632 (GRCm39) noncoding transcript Het
Hpdl T A 4: 116,678,141 (GRCm39) T107S possibly damaging Het
Il1rl1 G A 1: 40,485,376 (GRCm39) G276D possibly damaging Het
Irgq A G 7: 24,233,149 (GRCm39) D330G probably damaging Het
Kdm4b A G 17: 56,660,019 (GRCm39) D62G probably benign Het
Lama2 T C 10: 27,107,632 (GRCm39) T793A probably benign Het
Lrrk2 T C 15: 91,610,340 (GRCm39) F691L probably benign Het
Macf1 C T 4: 123,365,104 (GRCm39) G1654E probably benign Het
Mgat4c A T 10: 102,224,086 (GRCm39) Y100F probably benign Het
Ncapg A G 5: 45,839,196 (GRCm39) N532S probably benign Het
Nfkb1 T C 3: 135,296,600 (GRCm39) D782G probably damaging Het
Nthl1 G T 17: 24,857,683 (GRCm39) C294F probably damaging Het
Obp2b A G 2: 25,627,719 (GRCm39) H45R probably benign Het
Olfm1 A G 2: 28,104,715 (GRCm39) E156G probably damaging Het
Or14j2 A G 17: 37,886,308 (GRCm39) I2T probably benign Het
Or7g29 C A 9: 19,286,632 (GRCm39) A182S probably benign Het
Otud6b A G 4: 14,822,682 (GRCm39) probably benign Het
Patl2 T C 2: 121,954,291 (GRCm39) T427A probably benign Het
Pdzd8 T A 19: 59,288,218 (GRCm39) R1061W probably damaging Het
Plk3 A T 4: 116,990,194 (GRCm39) L137* probably null Het
Rps6ka6 T C X: 110,360,059 (GRCm39) probably benign Het
Shank1 T C 7: 44,003,660 (GRCm39) V1784A possibly damaging Het
Smc1b A T 15: 85,016,099 (GRCm39) S14T probably damaging Het
Sox4 C A 13: 29,136,664 (GRCm39) R114L probably damaging Het
Speg C T 1: 75,364,746 (GRCm39) R221W probably damaging Het
Tram1l1 T C 3: 124,115,788 (GRCm39) V316A probably benign Het
Virma G T 4: 11,521,114 (GRCm39) K840N probably damaging Het
Vmn1r49 A T 6: 90,049,394 (GRCm39) S203T probably damaging Het
Wdr1 T C 5: 38,686,886 (GRCm39) T293A probably benign Het
Xirp2 C T 2: 67,345,528 (GRCm39) P2590S possibly damaging Het
Zfp106 T C 2: 120,365,516 (GRCm39) Y297C possibly damaging Het
Zfp128 A G 7: 12,625,351 (GRCm39) *573W probably null Het
Zfp575 G A 7: 24,285,182 (GRCm39) P153L probably damaging Het
Other mutations in Efhc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01317:Efhc2 APN X 17,071,198 (GRCm39) splice site probably benign
IGL02215:Efhc2 APN X 17,096,817 (GRCm39) missense probably damaging 1.00
IGL02958:Efhc2 APN X 17,027,485 (GRCm39) splice site probably benign
R2867:Efhc2 UTSW X 17,027,484 (GRCm39) splice site probably benign
R4052:Efhc2 UTSW X 17,096,789 (GRCm39) missense possibly damaging 0.94
R4207:Efhc2 UTSW X 17,096,789 (GRCm39) missense possibly damaging 0.94
R4208:Efhc2 UTSW X 17,096,789 (GRCm39) missense possibly damaging 0.94
X0063:Efhc2 UTSW X 17,029,059 (GRCm39) missense probably damaging 1.00
Posted On 2013-10-07