Incidental Mutation 'IGL03062:Efhd1'
ID 409503
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 # IGL03062
Quality Score
Status
Chromosome 1
Chromosomal Location 87192085-87238561 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 87192406 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 79 (F79L)
Ref Sequence ENSEMBL: ENSMUSP00000112980 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027472] [ENSMUST00000118687]
AlphaFold Q9D4J1
Predicted Effect possibly damaging
Transcript: ENSMUST00000027472
AA Change: F79L

PolyPhen 2 Score 0.552 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000027472
Gene: ENSMUSG00000026255
AA Change: F79L

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 possibly damaging
Transcript: ENSMUST00000118687
AA Change: F79L

PolyPhen 2 Score 0.552 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000112980
Gene: ENSMUSG00000026255
AA Change: F79L

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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb10 C T 8: 124,681,054 (GRCm39) R714Q possibly damaging Het
Abcb5 T A 12: 118,899,822 (GRCm39) I282L probably benign Het
Aox1 A T 1: 58,117,624 (GRCm39) E835D probably benign Het
Arhgap17 C T 7: 122,921,097 (GRCm39) probably null Het
Bltp1 T C 3: 37,092,666 (GRCm39) probably benign Het
Calcr C T 6: 3,693,718 (GRCm39) V359I probably benign Het
Chd9 T A 8: 91,741,895 (GRCm39) probably benign Het
Col28a1 T C 6: 8,017,029 (GRCm39) probably benign Het
Dnajc11 A G 4: 152,055,318 (GRCm39) E171G possibly damaging Het
Fam83a A T 15: 57,856,473 (GRCm39) probably null Het
Fam98a A G 17: 75,847,100 (GRCm39) probably benign Het
Ficd A G 5: 113,876,314 (GRCm39) Y163C probably damaging Het
Filip1l T C 16: 57,327,167 (GRCm39) S66P probably damaging Het
Fmo5 A G 3: 97,542,909 (GRCm39) Y73C probably damaging Het
Galnt12 C A 4: 47,122,566 (GRCm39) R574S possibly damaging Het
Klc3 C A 7: 19,128,987 (GRCm39) G461W probably damaging Het
Lmo7 A T 14: 102,149,515 (GRCm39) T973S possibly damaging Het
Loxl1 C A 9: 58,219,193 (GRCm39) G326V possibly damaging Het
Lrrc24 A G 15: 76,602,504 (GRCm39) V127A probably benign Het
Lyrm1 T C 7: 119,515,354 (GRCm39) probably benign Het
Med28 G A 5: 45,679,811 (GRCm39) V65I probably damaging Het
Mgat4c T C 10: 102,224,322 (GRCm39) Y179H probably damaging Het
Micall1 A C 15: 78,998,881 (GRCm39) N58T probably damaging Het
Mtcl3 T A 10: 29,074,945 (GRCm39) F911Y probably damaging Het
Ncoa4 T A 14: 31,895,377 (GRCm39) M72K possibly damaging Het
Nutm1 T C 2: 112,079,278 (GRCm39) Q879R probably benign Het
Or4d6 C T 19: 12,086,512 (GRCm39) V133I probably benign Het
Or8b12i T A 9: 20,082,463 (GRCm39) I135F probably damaging Het
Or8g52 T A 9: 39,631,331 (GRCm39) D269E probably benign Het
Phf11b T C 14: 59,562,373 (GRCm39) I177M probably damaging Het
Pin1rt1 T G 2: 104,545,052 (GRCm39) I27L probably benign Het
Plxna2 T C 1: 194,444,858 (GRCm39) V750A possibly damaging Het
Pou5f1 A T 17: 35,820,936 (GRCm39) N126I possibly damaging Het
Ptprn A T 1: 75,224,517 (GRCm39) H946Q possibly damaging Het
Rnf43 G T 11: 87,623,130 (GRCm39) G744* probably null Het
Rsbn1 C A 3: 103,860,945 (GRCm39) probably benign Het
Sars2 T A 7: 28,446,206 (GRCm39) I145N possibly damaging Het
Sh3tc2 A T 18: 62,144,951 (GRCm39) E1135V probably damaging Het
Shroom1 A G 11: 53,354,206 (GRCm39) D42G probably benign Het
Sidt2 A G 9: 45,853,981 (GRCm39) probably null Het
Slc39a8 T C 3: 135,592,558 (GRCm39) probably benign Het
Slc9c1 T C 16: 45,420,121 (GRCm39) S1059P probably benign Het
Socs6 A T 18: 88,887,970 (GRCm39) M315K probably benign Het
Speer2 T C 16: 69,654,865 (GRCm39) E200G probably damaging Het
Sult2a5 T A 7: 13,358,107 (GRCm39) probably null Het
Tmbim1 A T 1: 74,330,858 (GRCm39) I168N possibly damaging Het
Trim38 T C 13: 23,966,946 (GRCm39) V131A probably damaging Het
Ube2o A G 11: 116,432,468 (GRCm39) S833P probably damaging Het
Uggt2 T C 14: 119,312,758 (GRCm39) I350M probably damaging Het
Unc80 A G 1: 66,548,648 (GRCm39) D640G probably damaging Het
Vmn2r13 A G 5: 109,304,148 (GRCm39) F761S probably damaging Het
Vmn2r54 C T 7: 12,366,355 (GRCm39) C193Y probably damaging Het
Other mutations in Efhd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02022:Efhd1 APN 1 87,192,334 (GRCm39) missense probably damaging 1.00
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 2016-08-02