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)
|
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |