Incidental Mutation 'IGL01293:Efhc2'
ID73003
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Efhc2
Ensembl Gene ENSMUSG00000025038
Gene NameEF-hand domain (C-terminal) containing 2
Synonyms4933407D04Rik, mRib72-2
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.168) question?
Stock #IGL01293
Quality Score
Status
ChromosomeX
Chromosomal Location17132049-17319368 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 17207695 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Leucine at position 469 (I469L)
Ref Sequence ENSEMBL: ENSMUSP00000026014 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026014]
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: 144,463,656 V25A probably benign Het
Aagab T C 9: 63,636,469 V235A probably benign Het
Ash1l T C 3: 88,983,529 V905A probably benign Het
Atrx A G X: 105,876,195 S641P probably benign Het
Bnc1 T C 7: 81,974,489 E330G probably damaging Het
Cenpq A T 17: 40,933,176 S4T possibly damaging Het
Clvs1 T A 4: 9,281,559 M1K probably null Het
Cul2 A G 18: 3,419,426 K196E probably damaging Het
Cyp2d10 A T 15: 82,403,009 V471E possibly damaging Het
Fhod3 C T 18: 25,020,652 probably benign Het
Gm1968 A G 16: 29,958,814 noncoding transcript Het
Gm438 G T 4: 144,777,589 H331N probably benign Het
Hpdl T A 4: 116,820,944 T107S possibly damaging Het
Il1rl1 G A 1: 40,446,216 G276D possibly damaging Het
Irgq A G 7: 24,533,724 D330G probably damaging Het
Kdm4b A G 17: 56,353,019 D62G probably benign Het
Lama2 T C 10: 27,231,636 T793A probably benign Het
Lrrk2 T C 15: 91,726,137 F691L probably benign Het
Macf1 C T 4: 123,471,311 G1654E probably benign Het
Mgat4c A T 10: 102,388,225 Y100F probably benign Het
Ncapg A G 5: 45,681,854 N532S probably benign Het
Nfkb1 T C 3: 135,590,839 D782G probably damaging Het
Nthl1 G T 17: 24,638,709 C294F probably damaging Het
Obp2b A G 2: 25,737,707 H45R probably benign Het
Olfm1 A G 2: 28,214,703 E156G probably damaging Het
Olfr113 A G 17: 37,575,417 I2T probably benign Het
Olfr847 C A 9: 19,375,336 A182S probably benign Het
Otud6b A G 4: 14,822,682 probably benign Het
Patl2 T C 2: 122,123,810 T427A probably benign Het
Pdzd8 T A 19: 59,299,786 R1061W probably damaging Het
Plk3 A T 4: 117,132,997 L137* probably null Het
Rps6ka6 T C X: 111,450,362 probably benign Het
Shank1 T C 7: 44,354,236 V1784A possibly damaging Het
Smc1b A T 15: 85,131,898 S14T probably damaging Het
Sox4 C A 13: 28,952,681 R114L probably damaging Het
Speg C T 1: 75,388,102 R221W probably damaging Het
Tram1l1 T C 3: 124,322,139 V316A probably benign Het
Virma G T 4: 11,521,114 K840N probably damaging Het
Vmn1r49 A T 6: 90,072,412 S203T probably damaging Het
Wdr1 T C 5: 38,529,543 T293A probably benign Het
Xirp2 C T 2: 67,515,184 P2590S possibly damaging Het
Zfp106 T C 2: 120,535,035 Y297C possibly damaging Het
Zfp128 A G 7: 12,891,424 *573W probably null Het
Zfp575 G A 7: 24,585,757 P153L probably damaging Het
Other mutations in Efhc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01317:Efhc2 APN X 17204959 splice site probably benign
IGL02215:Efhc2 APN X 17230578 missense probably damaging 1.00
IGL02958:Efhc2 APN X 17161246 splice site probably benign
R2867:Efhc2 UTSW X 17161245 splice site probably benign
R4052:Efhc2 UTSW X 17230550 missense possibly damaging 0.94
R4207:Efhc2 UTSW X 17230550 missense possibly damaging 0.94
R4208:Efhc2 UTSW X 17230550 missense possibly damaging 0.94
X0063:Efhc2 UTSW X 17162820 missense probably damaging 1.00
Posted On2013-10-07