Incidental Mutation 'R2310:Efhd1'
| ID |
244722 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Efhd1
|
| Ensembl Gene |
ENSMUSG00000026255 |
| Gene Name |
EF hand domain containing 1 |
| Synonyms |
PP3051, mitocalcin, 4931430I01Rik |
| MMRRC Submission |
040309-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2310 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
87192085-87238561 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 87192350 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 60
(L60P)
|
| 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: L60P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000027472
Gene: ENSMUSG00000026255
AA Change: L60P
| 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: L60P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112980
Gene: ENSMUSG00000026255
AA Change: L60P
| 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
|
| Meta Mutation Damage Score |
0.1270 |
| Coding Region Coverage |
- 1x: 99.5%
- 3x: 98.7%
- 10x: 97.2%
- 20x: 94.5%
|
| Validation Efficiency |
100% (39/39) |
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgef10l |
A |
C |
4: 140,320,429 (GRCm39) |
C136W |
probably damaging |
Het |
| Ascc3 |
T |
A |
10: 50,624,988 (GRCm39) |
H1625Q |
probably benign |
Het |
| Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
| Cpa3 |
C |
T |
3: 20,281,387 (GRCm39) |
C173Y |
probably damaging |
Het |
| Cyp2c65 |
A |
G |
19: 39,081,826 (GRCm39) |
T451A |
probably benign |
Het |
| Ddx41 |
G |
A |
13: 55,682,293 (GRCm39) |
R205W |
possibly damaging |
Het |
| Flrt2 |
A |
G |
12: 95,746,864 (GRCm39) |
T401A |
probably benign |
Het |
| Frmd4a |
GAA |
G |
2: 4,577,210 (GRCm39) |
|
probably null |
Het |
| Gas2l2 |
A |
G |
11: 83,318,265 (GRCm39) |
V148A |
possibly damaging |
Het |
| Golga5 |
A |
G |
12: 102,458,420 (GRCm39) |
E621G |
probably damaging |
Het |
| Gsap |
A |
T |
5: 21,401,088 (GRCm39) |
R74* |
probably null |
Het |
| Intu |
C |
T |
3: 40,608,243 (GRCm39) |
A85V |
probably benign |
Het |
| Kansl3 |
T |
A |
1: 36,382,445 (GRCm39) |
I860F |
probably damaging |
Het |
| Kif23 |
A |
G |
9: 61,831,426 (GRCm39) |
S715P |
probably damaging |
Het |
| Map3k8 |
A |
T |
18: 4,349,001 (GRCm39) |
C106S |
probably benign |
Het |
| Mcc |
T |
C |
18: 44,564,433 (GRCm39) |
E934G |
probably damaging |
Het |
| Mrpl19 |
A |
T |
6: 81,941,054 (GRCm39) |
|
probably null |
Het |
| Msl3l2 |
C |
A |
10: 55,991,421 (GRCm39) |
R49S |
probably benign |
Het |
| Muc6 |
T |
A |
7: 141,217,444 (GRCm39) |
I2410F |
possibly damaging |
Het |
| Or2t6 |
A |
G |
14: 14,175,836 (GRCm38) |
V82A |
probably benign |
Het |
| Or4a73 |
A |
G |
2: 89,420,794 (GRCm39) |
S222P |
probably damaging |
Het |
| Pip5k1c |
T |
G |
10: 81,142,142 (GRCm39) |
S117R |
probably damaging |
Het |
| Ppfia2 |
T |
C |
10: 106,690,841 (GRCm39) |
S561P |
probably damaging |
Het |
| Pramel13 |
A |
T |
4: 144,119,475 (GRCm39) |
|
probably null |
Het |
| Rassf5 |
A |
T |
1: 131,172,477 (GRCm39) |
W131R |
probably damaging |
Het |
| Shq1 |
C |
T |
6: 100,607,963 (GRCm39) |
W316* |
probably null |
Het |
| Slc45a4 |
A |
G |
15: 73,461,409 (GRCm39) |
Y87H |
probably damaging |
Het |
| Sptbn2 |
A |
G |
19: 4,768,963 (GRCm39) |
D32G |
probably benign |
Het |
| Tjp1 |
C |
T |
7: 64,979,490 (GRCm39) |
R345Q |
possibly damaging |
Het |
| Tnrc18 |
C |
G |
5: 142,774,308 (GRCm39) |
V174L |
probably damaging |
Het |
| Trmt6 |
G |
T |
2: 132,650,832 (GRCm39) |
P259T |
probably damaging |
Het |
| Ubap1 |
T |
A |
4: 41,379,341 (GRCm39) |
V185E |
possibly damaging |
Het |
| Ulk1 |
C |
T |
5: 110,937,223 (GRCm39) |
R691Q |
probably benign |
Het |
| Vmn2r112 |
T |
A |
17: 22,822,096 (GRCm39) |
V258E |
probably damaging |
Het |
| Wnk2 |
T |
C |
13: 49,204,053 (GRCm39) |
T1979A |
probably damaging |
Het |
| Xirp2 |
A |
G |
2: 67,356,591 (GRCm39) |
D3784G |
probably benign |
Het |
| Zfp119a |
A |
T |
17: 56,172,440 (GRCm39) |
Y468N |
probably benign |
Het |
|
| Other mutations in Efhd1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
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 |
|
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'- AAGAGCGCACAACTCTCTG -3'
(R):5'- AACTTGATGCGCACGATCTG -3'
Sequencing Primer
(F):5'- TACCGGATCGCGAACCTCAG -3'
(R):5'- ACTTGGCCAGATGCTCAGTG -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation