Incidental Mutation 'R5508:Efhd1'
| ID |
431015 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Efhd1
|
| Ensembl Gene |
ENSMUSG00000026255 |
| Gene Name |
EF hand domain containing 1 |
| Synonyms |
PP3051, mitocalcin, 4931430I01Rik |
| MMRRC Submission |
043069-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5508 (G1)
|
| Quality Score |
209 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
87192085-87238561 bp(+) (GRCm39) |
| Type of Mutation |
makesense |
| DNA Base Change (assembly) |
A to G
at 87237516 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Stop codon to Tryptophan
at position 241
(*241W)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112980
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027472]
[ENSMUST00000118687]
|
| AlphaFold |
Q9D4J1 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000027472
AA Change: *241W
|
| SMART Domains |
Protein: ENSMUSP00000027472
Gene: ENSMUSG00000026255
AA Change: *241W
| 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 null
Transcript: ENSMUST00000118687
AA Change: *241W
|
| SMART Domains |
Protein: ENSMUSP00000112980
Gene: ENSMUSG00000026255
AA Change: *241W
| 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: ENSMUST00000150831
|
| Coding Region Coverage |
- 1x: 98.4%
- 3x: 97.4%
- 10x: 95.7%
- 20x: 92.5%
|
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ank3 |
G |
A |
10: 69,838,395 (GRCm39) |
R1566K |
possibly damaging |
Het |
| Apc |
A |
G |
18: 34,431,633 (GRCm39) |
D344G |
probably damaging |
Het |
| Asphd2 |
A |
T |
5: 112,534,649 (GRCm39) |
F300I |
probably damaging |
Het |
| BC016579 |
T |
A |
16: 45,453,369 (GRCm39) |
T149S |
possibly damaging |
Het |
| Bcl6b |
A |
T |
11: 70,116,919 (GRCm39) |
H453Q |
probably damaging |
Het |
| Ccdc192 |
G |
A |
18: 57,671,156 (GRCm39) |
|
probably null |
Het |
| Clec4b2 |
A |
G |
6: 123,150,001 (GRCm39) |
|
probably benign |
Het |
| Crispld1 |
G |
T |
1: 17,823,207 (GRCm39) |
C396F |
probably damaging |
Het |
| Dnase1l3 |
A |
G |
14: 7,968,146 (GRCm38) |
V253A |
probably damaging |
Het |
| Flvcr1 |
C |
T |
1: 190,757,656 (GRCm39) |
G212D |
probably damaging |
Het |
| Golga2 |
T |
A |
2: 32,178,199 (GRCm39) |
L36* |
probably null |
Het |
| Gprc5c |
G |
T |
11: 114,755,093 (GRCm39) |
V257L |
possibly damaging |
Het |
| Gtf3c2 |
G |
T |
5: 31,331,805 (GRCm39) |
C4* |
probably null |
Het |
| Kit |
G |
T |
5: 75,810,208 (GRCm39) |
C786F |
probably damaging |
Het |
| Klf14 |
T |
C |
6: 30,934,977 (GRCm39) |
H219R |
probably damaging |
Het |
| Large2 |
A |
G |
2: 92,200,248 (GRCm39) |
V122A |
possibly damaging |
Het |
| Lct |
G |
A |
1: 128,221,868 (GRCm39) |
A1557V |
probably damaging |
Het |
| Lrp6 |
T |
G |
6: 134,441,479 (GRCm39) |
K1162N |
probably benign |
Het |
| Mtmr11 |
G |
A |
3: 96,071,084 (GRCm39) |
R147Q |
probably damaging |
Het |
| Pbld2 |
T |
A |
10: 62,902,444 (GRCm39) |
|
probably null |
Het |
| Pcdhb3 |
A |
T |
18: 37,434,179 (GRCm39) |
L48F |
probably damaging |
Het |
| Pdcd2 |
C |
T |
17: 15,742,001 (GRCm39) |
D310N |
probably damaging |
Het |
| Phlpp1 |
G |
T |
1: 106,292,120 (GRCm39) |
R993L |
probably benign |
Het |
| Prr36 |
G |
A |
8: 4,266,488 (GRCm39) |
P21S |
probably damaging |
Het |
| Ptprq |
C |
A |
10: 107,522,092 (GRCm39) |
V620L |
probably benign |
Het |
| Ranbp2 |
T |
A |
10: 58,315,827 (GRCm39) |
D2182E |
probably damaging |
Het |
| Sass6 |
G |
A |
3: 116,413,752 (GRCm39) |
R485K |
probably benign |
Het |
| Scoc |
A |
T |
8: 84,162,571 (GRCm39) |
S68T |
probably damaging |
Het |
| Speer3 |
T |
A |
5: 13,844,678 (GRCm39) |
L114I |
probably damaging |
Het |
| Ss18l1 |
C |
G |
2: 179,699,446 (GRCm39) |
Q215E |
probably damaging |
Het |
| Stab2 |
T |
C |
10: 86,796,143 (GRCm39) |
N368S |
probably benign |
Het |
| Trim80 |
T |
A |
11: 115,335,904 (GRCm39) |
S275R |
probably benign |
Het |
| Tubb5 |
T |
C |
17: 36,145,962 (GRCm39) |
N416S |
probably benign |
Het |
| Ugt2a3 |
A |
T |
5: 87,475,059 (GRCm39) |
M395K |
probably damaging |
Het |
| Vmn2r61 |
T |
A |
7: 41,916,242 (GRCm39) |
M285K |
possibly damaging |
Het |
| Xpo1 |
A |
G |
11: 23,244,645 (GRCm39) |
I1008V |
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 |
|
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 |
|
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'- TGGTCCAAGCTTTGCATGGC -3'
(R):5'- AAACCGTTTGGAAGGGACC -3'
Sequencing Primer
(F):5'- GGTGCCAGTACCCCCATATC -3'
(R):5'- CCGTTTGGAAGGGACCAGGAC -3'
|
| Posted On |
2016-10-05 |
Incidental Mutation