Incidental Mutation 'R1673:Efhd1'
ID 187773
Institutional Source Beutler Lab
Gene Symbol Efhd1
Ensembl Gene ENSMUSG00000026255
Gene Name EF hand domain containing 1
Synonyms PP3051, mitocalcin, 4931430I01Rik
MMRRC Submission 039709-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1673 (G1)
Quality Score 95
Status Not validated
Chromosome 1
Chromosomal Location 87192085-87238561 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 87192404 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 78 (V78D)
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: V78D

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000027472
Gene: ENSMUSG00000026255
AA Change: V78D

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: V78D

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000112980
Gene: ENSMUSG00000026255
AA Change: V78D

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
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.1%
  • 20x: 91.9%
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca6 T C 11: 110,103,165 (GRCm39) S809G probably benign Het
Ap4b1 T A 3: 103,725,161 (GRCm39) probably null Het
Aqp12 A G 1: 92,934,606 (GRCm39) Q161R possibly damaging Het
Atp8a2 A G 14: 60,028,689 (GRCm39) I926T probably benign Het
Cacna2d1 A T 5: 16,504,988 (GRCm39) N314I probably damaging Het
Cd209d A G 8: 3,927,113 (GRCm39) S81P probably damaging Het
Cdcp1 T A 9: 123,007,086 (GRCm39) K554* probably null Het
Celsr1 A G 15: 85,816,658 (GRCm39) Y1762H probably benign Het
Cklf A G 8: 104,983,983 (GRCm39) T49A possibly damaging Het
Col12a1 T G 9: 79,600,820 (GRCm39) I755L probably benign Het
Cts3 G A 13: 61,715,368 (GRCm39) Q140* probably null Het
Ddx1 A T 12: 13,294,967 (GRCm39) probably null Het
Dnah3 C A 7: 119,570,402 (GRCm39) E2262* probably null Het
Dnah5 A G 15: 28,290,294 (GRCm39) N1228S probably benign Het
Dsg1a G A 18: 20,464,561 (GRCm39) R352Q probably damaging Het
Efcab5 A G 11: 77,042,679 (GRCm39) F25L probably damaging Het
Eif5a2 T C 3: 28,847,967 (GRCm39) probably null Het
Elp2 T A 18: 24,744,983 (GRCm39) V101D possibly damaging Het
Enpp2 A T 15: 54,773,592 (GRCm39) probably null Het
F5 A G 1: 164,007,089 (GRCm39) T298A probably damaging Het
Fbxo21 G T 5: 118,146,129 (GRCm39) R584L probably benign Het
Fbxw22 G T 9: 109,211,196 (GRCm39) F368L possibly damaging Het
Gcn1 T C 5: 115,720,356 (GRCm39) I409T probably benign Het
Gm12887 T C 4: 121,473,655 (GRCm39) Y65C probably damaging Het
Gria4 G A 9: 4,537,637 (GRCm39) Q224* probably null Het
Hdac5 C T 11: 102,089,631 (GRCm39) V860M probably damaging Het
Ino80 G A 2: 119,212,417 (GRCm39) R1302C probably damaging Het
Kcns2 A T 15: 34,838,966 (GRCm39) I110F probably damaging Het
Lrig3 A G 10: 125,846,036 (GRCm39) T822A probably damaging Het
Mapk6 T C 9: 75,302,851 (GRCm39) D214G probably damaging Het
Mcm2 A T 6: 88,869,060 (GRCm39) L264Q probably benign Het
Mpnd A T 17: 56,317,455 (GRCm39) Y64F probably damaging Het
Muc1 T A 3: 89,139,079 (GRCm39) M520K possibly damaging Het
Muc4 T A 16: 32,577,276 (GRCm39) S189T probably benign Het
Myh13 T C 11: 67,242,945 (GRCm39) S953P possibly damaging Het
Ncf2 A T 1: 152,706,230 (GRCm39) M281L probably benign Het
Nipal2 A G 15: 34,648,841 (GRCm39) I116T probably damaging Het
Nptn T C 9: 58,531,015 (GRCm39) L46P probably benign Het
Or2b6 A T 13: 21,823,214 (GRCm39) S160T probably damaging Het
Or4k77 A G 2: 111,199,552 (GRCm39) T192A probably benign Het
Or51ag1 C A 7: 103,155,896 (GRCm39) V86F probably damaging Het
Or5ae1 T A 7: 84,565,325 (GRCm39) F113I probably damaging Het
Pgr A T 9: 8,902,069 (GRCm39) Y534F possibly damaging Het
Pip4k2a A T 2: 18,877,093 (GRCm39) probably null Het
Pkd1l2 C G 8: 117,767,514 (GRCm39) V1259L probably benign Het
Ppp1r12a A G 10: 108,085,426 (GRCm39) E457G probably damaging Het
Rasa4 T A 5: 136,133,491 (GRCm39) V650D probably benign Het
Rem2 C T 14: 54,713,766 (GRCm39) probably benign Het
Rps18-ps6 A T 13: 97,896,868 (GRCm39) Y77N possibly damaging Het
Sdc1 G A 12: 8,840,409 (GRCm39) R62Q possibly damaging Het
Sdk1 A G 5: 141,934,261 (GRCm39) E366G possibly damaging Het
Setd2 T A 9: 110,433,248 (GRCm39) H2406Q probably damaging Het
Slc30a5 A G 13: 100,949,891 (GRCm39) V397A probably benign Het
Slc36a2 A T 11: 55,075,739 (GRCm39) L16H possibly damaging Het
Slc44a1 T C 4: 53,542,468 (GRCm39) V334A probably benign Het
Sox8 A T 17: 25,786,456 (GRCm39) Y416N possibly damaging Het
Speg T C 1: 75,387,807 (GRCm39) V1416A possibly damaging Het
Stimate T C 14: 30,586,391 (GRCm39) L72S possibly damaging Het
Stk24 T A 14: 121,574,983 (GRCm39) I42F probably damaging Het
Tasor2 A G 13: 3,634,498 (GRCm39) probably null Het
Tcerg1 T A 18: 42,685,646 (GRCm39) L661Q possibly damaging Het
Tpp1 G A 7: 105,396,880 (GRCm39) R417W probably damaging Het
Trim12a T A 7: 103,955,264 (GRCm39) D153V possibly damaging Het
Trpm2 T C 10: 77,778,778 (GRCm39) N396S probably benign Het
Ttn T C 2: 76,637,427 (GRCm39) K5695R probably damaging Het
Ttn G A 2: 76,640,631 (GRCm39) R11960C probably damaging Het
Tulp3 A C 6: 128,310,906 (GRCm39) probably null Het
Uaca T A 9: 60,779,438 (GRCm39) L1273H probably damaging Het
Usp33 A G 3: 152,073,919 (GRCm39) E255G probably damaging Het
Vmn2r54 T G 7: 12,350,138 (GRCm39) probably null Het
Vwa8 C T 14: 79,145,670 (GRCm39) R116C probably damaging Het
Wnt5b A T 6: 119,423,315 (GRCm39) F116L probably benign Het
Zbtb12 CTTCAT CTTCATTCAT 17: 35,115,284 (GRCm39) probably null Het
Zbtb12 TCATC TCATCCATC 17: 35,115,286 (GRCm39) probably null Het
Zfp408 G A 2: 91,476,353 (GRCm39) T367I probably damaging Het
Zfp512b G A 2: 181,230,286 (GRCm39) A480V possibly damaging Het
Zfp560 T C 9: 20,258,949 (GRCm39) T638A probably benign Het
Zfp932 G T 5: 110,156,854 (GRCm39) G151V probably damaging Het
Zpbp T C 11: 11,302,696 (GRCm39) K320E probably damaging Het
Zranb2 C T 3: 157,243,277 (GRCm39) P91L probably damaging Het
Other mutations in Efhd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02022:Efhd1 APN 1 87,192,334 (GRCm39) missense probably damaging 1.00
IGL03062:Efhd1 APN 1 87,192,406 (GRCm39) missense possibly damaging 0.55
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
Predicted Primers PCR Primer
(F):5'- ATTCCACCGAGCGTCAGAAAGC -3'
(R):5'- CGGGAGCAAATCTCTGGATCTGTG -3'

Sequencing Primer
(F):5'- CATCATGTCCAGCGAGGAG -3'
(R):5'- CGCGCAATGAACTTGATGC -3'
Posted On 2014-05-09