Incidental Mutation 'IGL03264:Efhc1'
| ID |
415000 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Efhc1
|
| Ensembl Gene |
ENSMUSG00000041809 |
| Gene Name |
EF-hand domain (C-terminal) containing 1 |
| Synonyms |
1700029F22Rik, myoclonin1, mRib72-1 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.088)
|
| Stock # |
IGL03264
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
21021850-21061065 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 21037715 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Isoleucine
at position 297
(M297I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000042343
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038447]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000038447
AA Change: M297I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000042343
Gene: ENSMUSG00000041809
AA Change: M297I
| Domain | Start | End | E-Value | Type |
|---|
|
DM10
|
93 |
198 |
2.74e-52 |
SMART |
|
DM10
|
239 |
359 |
3.04e-59 |
SMART |
|
DM10
|
416 |
520 |
8.05e-50 |
SMART |
|
SCOP:d1sra__
|
538 |
646 |
2e-12 |
SMART |
|
| 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 an EF-hand-containing calcium binding protein. The encoded protein likely plays a role in calcium homeostasis. Mutations in this gene have been associated with susceptibility to juvenile myoclonic epilepsy and juvenile absence epilepsy. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2010]
PHENOTYPE: Mice homozygous or heterozygous for a null mutation display myoclonus and increased susceptibility to pharmacologically induced seizures. Homozygous mice also display enlarged brain ventricles and reduced hippocampal size. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg1 |
T |
G |
17: 31,283,428 (GRCm39) |
S38A |
probably benign |
Het |
| Alkbh1 |
T |
G |
12: 87,478,197 (GRCm39) |
D238A |
probably damaging |
Het |
| Arhgef17 |
A |
T |
7: 100,529,220 (GRCm39) |
D1531E |
probably benign |
Het |
| Bltp1 |
A |
T |
3: 37,056,784 (GRCm39) |
I3152F |
probably damaging |
Het |
| Cacng3 |
G |
T |
7: 122,271,180 (GRCm39) |
G62W |
probably damaging |
Het |
| Cdh22 |
T |
C |
2: 164,958,093 (GRCm39) |
I625V |
probably benign |
Het |
| Ces5a |
T |
C |
8: 94,228,898 (GRCm39) |
N444S |
possibly damaging |
Het |
| Chst13 |
A |
T |
6: 90,286,193 (GRCm39) |
Y256* |
probably null |
Het |
| Clcn5 |
T |
A |
X: 7,044,613 (GRCm39) |
H177L |
probably benign |
Het |
| Dars1 |
G |
A |
1: 128,341,427 (GRCm39) |
R63C |
probably damaging |
Het |
| Dcun1d4 |
A |
G |
5: 73,677,572 (GRCm39) |
S84G |
probably benign |
Het |
| Dcxr |
T |
C |
11: 120,617,298 (GRCm39) |
N82D |
probably damaging |
Het |
| Eef1a2 |
C |
A |
2: 180,790,527 (GRCm39) |
K376N |
possibly damaging |
Het |
| Etfb |
G |
T |
7: 43,101,897 (GRCm39) |
V64F |
probably damaging |
Het |
| Fam135b |
A |
C |
15: 71,334,637 (GRCm39) |
N852K |
probably benign |
Het |
| Gigyf2 |
T |
C |
1: 87,376,790 (GRCm39) |
|
probably benign |
Het |
| Gria4 |
T |
C |
9: 4,513,288 (GRCm39) |
K274E |
probably benign |
Het |
| Irag1 |
A |
T |
7: 110,525,553 (GRCm39) |
S200T |
probably benign |
Het |
| Itgae |
A |
G |
11: 73,006,400 (GRCm39) |
E356G |
possibly damaging |
Het |
| Med12l |
C |
T |
3: 59,208,788 (GRCm39) |
Q2139* |
probably null |
Het |
| Plxna4 |
A |
G |
6: 32,155,337 (GRCm39) |
F1536L |
possibly damaging |
Het |
| Pramel19 |
A |
T |
4: 101,798,329 (GRCm39) |
Q100L |
probably damaging |
Het |
| Rmnd5a |
A |
G |
6: 71,370,119 (GRCm39) |
I389T |
probably damaging |
Het |
| Rnf128 |
T |
G |
X: 138,511,985 (GRCm39) |
V144G |
probably damaging |
Het |
| Rpgrip1 |
A |
G |
14: 52,378,109 (GRCm39) |
T486A |
possibly damaging |
Het |
| Rps6kc1 |
T |
C |
1: 190,604,026 (GRCm39) |
T199A |
probably benign |
Het |
| Skint5 |
T |
A |
4: 113,343,854 (GRCm39) |
D1338V |
unknown |
Het |
| Slc35g2 |
A |
T |
9: 100,434,699 (GRCm39) |
I324K |
possibly damaging |
Het |
| Slc4a5 |
G |
A |
6: 83,238,507 (GRCm39) |
R225H |
probably damaging |
Het |
| Srgap3 |
A |
T |
6: 112,793,636 (GRCm39) |
H113Q |
probably damaging |
Het |
| Stpg2 |
A |
C |
3: 139,014,970 (GRCm39) |
K378N |
possibly damaging |
Het |
| Svep1 |
A |
G |
4: 58,066,422 (GRCm39) |
|
probably benign |
Het |
| Utp11 |
T |
C |
4: 124,573,521 (GRCm39) |
K218E |
probably damaging |
Het |
| Vmn2r53 |
T |
A |
7: 12,315,819 (GRCm39) |
I667F |
possibly damaging |
Het |
| Wdfy3 |
A |
G |
5: 102,048,016 (GRCm39) |
L1763P |
probably damaging |
Het |
| Wnt2 |
A |
G |
6: 17,989,959 (GRCm39) |
Y313H |
probably benign |
Het |
| Zfp638 |
T |
C |
6: 83,923,229 (GRCm39) |
S676P |
probably benign |
Het |
| Zfp747l1 |
A |
G |
7: 126,984,811 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Efhc1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00514:Efhc1
|
APN |
1 |
21,049,705 (GRCm39) |
nonsense |
probably null |
|
|
IGL00549:Efhc1
|
APN |
1 |
21,049,705 (GRCm39) |
nonsense |
probably null |
|
|
IGL01611:Efhc1
|
APN |
1 |
21,060,911 (GRCm39) |
makesense |
probably null |
|
|
IGL01916:Efhc1
|
APN |
1 |
21,048,973 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02366:Efhc1
|
APN |
1 |
21,030,486 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02567:Efhc1
|
APN |
1 |
21,043,188 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02590:Efhc1
|
APN |
1 |
21,037,608 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02869:Efhc1
|
APN |
1 |
21,037,567 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL03292:Efhc1
|
APN |
1 |
21,030,496 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL03097:Efhc1
|
UTSW |
1 |
21,043,049 (GRCm39) |
missense |
probably damaging |
1.00 |
|
P0023:Efhc1
|
UTSW |
1 |
21,025,751 (GRCm39) |
missense |
probably benign |
|
|
R0180:Efhc1
|
UTSW |
1 |
21,037,713 (GRCm39) |
missense |
probably benign |
|
|
R0220:Efhc1
|
UTSW |
1 |
21,037,582 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0391:Efhc1
|
UTSW |
1 |
21,030,412 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0765:Efhc1
|
UTSW |
1 |
21,048,876 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1293:Efhc1
|
UTSW |
1 |
21,048,996 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1414:Efhc1
|
UTSW |
1 |
21,031,513 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1644:Efhc1
|
UTSW |
1 |
21,037,625 (GRCm39) |
nonsense |
probably null |
|
|
R1799:Efhc1
|
UTSW |
1 |
21,049,762 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1932:Efhc1
|
UTSW |
1 |
21,037,624 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1991:Efhc1
|
UTSW |
1 |
21,059,784 (GRCm39) |
nonsense |
probably null |
|
|
R2103:Efhc1
|
UTSW |
1 |
21,059,784 (GRCm39) |
nonsense |
probably null |
|
|
R3956:Efhc1
|
UTSW |
1 |
21,048,890 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4812:Efhc1
|
UTSW |
1 |
21,060,871 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5064:Efhc1
|
UTSW |
1 |
21,045,187 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R5562:Efhc1
|
UTSW |
1 |
21,043,104 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5800:Efhc1
|
UTSW |
1 |
21,049,005 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5948:Efhc1
|
UTSW |
1 |
21,043,052 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5977:Efhc1
|
UTSW |
1 |
21,030,442 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6313:Efhc1
|
UTSW |
1 |
21,049,652 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R6375:Efhc1
|
UTSW |
1 |
21,043,164 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6512:Efhc1
|
UTSW |
1 |
21,030,573 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6530:Efhc1
|
UTSW |
1 |
21,031,366 (GRCm39) |
splice site |
probably null |
|
|
R6865:Efhc1
|
UTSW |
1 |
21,030,442 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7398:Efhc1
|
UTSW |
1 |
21,059,744 (GRCm39) |
missense |
probably benign |
|
|
R7656:Efhc1
|
UTSW |
1 |
21,031,281 (GRCm39) |
splice site |
probably null |
|
|
R7676:Efhc1
|
UTSW |
1 |
21,037,593 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7719:Efhc1
|
UTSW |
1 |
21,049,744 (GRCm39) |
missense |
probably benign |
|
|
R7775:Efhc1
|
UTSW |
1 |
21,049,685 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7778:Efhc1
|
UTSW |
1 |
21,049,685 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7824:Efhc1
|
UTSW |
1 |
21,049,685 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7857:Efhc1
|
UTSW |
1 |
21,045,226 (GRCm39) |
missense |
probably benign |
0.11 |
|
R7970:Efhc1
|
UTSW |
1 |
21,022,019 (GRCm39) |
missense |
probably benign |
0.12 |
|
R8187:Efhc1
|
UTSW |
1 |
21,030,396 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8485:Efhc1
|
UTSW |
1 |
21,030,460 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8752:Efhc1
|
UTSW |
1 |
21,059,692 (GRCm39) |
missense |
probably benign |
|
|
R8862:Efhc1
|
UTSW |
1 |
21,037,573 (GRCm39) |
missense |
|
|
|
R9086:Efhc1
|
UTSW |
1 |
21,025,592 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9328:Efhc1
|
UTSW |
1 |
21,030,598 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9619:Efhc1
|
UTSW |
1 |
21,037,603 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9625:Efhc1
|
UTSW |
1 |
21,049,738 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9747:Efhc1
|
UTSW |
1 |
21,048,928 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation