Incidental Mutation 'IGL02022:Efhd1'
ID 184012
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Efhd1
Ensembl Gene ENSMUSG00000026255
Gene Name EF hand domain containing 1
Synonyms PP3051, mitocalcin, 4931430I01Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02022
Quality Score
Status
Chromosome 1
Chromosomal Location 87192085-87238561 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 87192334 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Lysine at position 55 (E55K)
Ref Sequence ENSEMBL: ENSMUSP00000112980 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027472] [ENSMUST00000118687]
AlphaFold Q9D4J1
Predicted Effect probably damaging
Transcript: ENSMUST00000027472
AA Change: E55K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000027472
Gene: ENSMUSG00000026255
AA Change: E55K

DomainStartEndE-ValueType
low complexity region 34 52 N/A INTRINSIC
EFh 95 123 1.11e-3 SMART
EFh 131 159 2.64e-1 SMART
coiled coil region 203 237 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000118687
AA Change: E55K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000112980
Gene: ENSMUSG00000026255
AA Change: E55K

DomainStartEndE-ValueType
low complexity region 34 52 N/A INTRINSIC
EFh 95 123 1.11e-3 SMART
EFh 131 159 2.64e-1 SMART
coiled coil region 203 237 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138844
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 member of the EF-hand super family of calcium binding proteins, which are involved in a variety of cellular processes including mitosis, synaptic transmission, and cytoskeletal rearrangement. The protein encoded by this gene is composed of an N-terminal disordered region, proline-rich elements, two EF-hands, and a C-terminal coiled-coil domain. This protein has been shown to associate with the mitochondrial inner membrane, and in HeLa cells, acts as a novel mitochondrial calcium ion sensor for mitochondrial flash activation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2016]
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001J03Rik T C 5: 146,120,358 (GRCm39) Y160C probably damaging Het
Abi3bp T C 16: 56,412,999 (GRCm39) S314P probably damaging Het
Abra T C 15: 41,732,802 (GRCm39) H88R probably benign Het
Bsn A G 9: 107,987,617 (GRCm39) probably benign Het
Chd3 A C 11: 69,251,886 (GRCm39) C123G probably damaging Het
Clca3b A C 3: 144,547,171 (GRCm39) probably null Het
Cnot7 G T 8: 40,952,386 (GRCm39) P190T probably damaging Het
Cps1 A T 1: 67,212,031 (GRCm39) probably benign Het
Dennd2d A G 3: 106,407,220 (GRCm39) T424A probably benign Het
Dnhd1 C T 7: 105,327,516 (GRCm39) R54C probably damaging Het
Ep300 T C 15: 81,495,638 (GRCm39) probably benign Het
Ezh1 G T 11: 101,090,166 (GRCm39) H529Q probably damaging Het
Klhl3 A T 13: 58,198,878 (GRCm39) S201T possibly damaging Het
Krt1c A G 15: 101,724,953 (GRCm39) F219S probably damaging Het
Lrp1b C T 2: 41,172,172 (GRCm39) D751N probably damaging Het
Lyst T A 13: 13,838,629 (GRCm39) C1848* probably null Het
Macf1 A G 4: 123,284,842 (GRCm39) probably null Het
Med10 T C 13: 69,961,819 (GRCm39) probably benign Het
Msh4 T A 3: 153,592,593 (GRCm39) T170S probably damaging Het
Or52n3 T C 7: 104,530,141 (GRCm39) C76R probably damaging Het
Pelp1 T A 11: 70,297,153 (GRCm39) probably benign Het
Prex2 G A 1: 11,367,963 (GRCm39) V1595I probably benign Het
Prpf8 C T 11: 75,392,660 (GRCm39) R1617* probably null Het
Rabep1 T A 11: 70,825,385 (GRCm39) L684Q probably damaging Het
Slc22a4 G A 11: 53,874,435 (GRCm39) probably benign Het
Smox T C 2: 131,362,037 (GRCm39) F153S probably damaging Het
Tma16 A G 8: 66,939,062 (GRCm39) probably null Het
Unc80 G T 1: 66,665,675 (GRCm39) R1814L possibly damaging Het
Vmn2r108 C T 17: 20,691,987 (GRCm39) D179N possibly damaging Het
Washc2 A G 6: 116,236,126 (GRCm39) E1199G probably benign Het
Zic1 C A 9: 91,244,525 (GRCm39) probably null Het
Other mutations in Efhd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03062:Efhd1 APN 1 87,192,406 (GRCm39) missense possibly damaging 0.55
R1673:Efhd1 UTSW 1 87,192,404 (GRCm39) missense probably damaging 0.99
R2163:Efhd1 UTSW 1 87,217,195 (GRCm39) missense probably damaging 1.00
R2310:Efhd1 UTSW 1 87,192,350 (GRCm39) missense probably damaging 1.00
R2566:Efhd1 UTSW 1 87,237,477 (GRCm39) missense possibly damaging 0.72
R4996:Efhd1 UTSW 1 87,192,280 (GRCm39) missense possibly damaging 0.95
R5508:Efhd1 UTSW 1 87,237,516 (GRCm39) makesense probably null
R7090:Efhd1 UTSW 1 87,217,219 (GRCm39) missense probably damaging 0.96
R8065:Efhd1 UTSW 1 87,192,313 (GRCm39) missense probably benign 0.01
R8067:Efhd1 UTSW 1 87,192,313 (GRCm39) missense probably benign 0.01
R8935:Efhd1 UTSW 1 87,217,219 (GRCm39) missense probably damaging 0.96
Posted On 2014-05-07