Incidental Mutation 'IGL00514:Efhc1'
ID |
277708 |
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: 0.079)
|
Stock # |
IGL00514
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
21021850-21061065 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
C to T
at 21049705 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Stop codon
at position 522
(Q522*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000042343
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038447]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably null
Transcript: ENSMUST00000038447
AA Change: Q522*
|
SMART Domains |
Protein: ENSMUSP00000042343 Gene: ENSMUSG00000041809 AA Change: Q522*
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: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933409G03Rik |
A |
G |
2: 68,432,141 (GRCm39) |
E75G |
unknown |
Het |
Ank3 |
T |
C |
10: 69,818,035 (GRCm39) |
|
probably benign |
Het |
Aplf |
A |
G |
6: 87,645,390 (GRCm39) |
|
probably benign |
Het |
Baz2b |
A |
T |
2: 59,792,821 (GRCm39) |
F436I |
probably benign |
Het |
Blmh |
A |
G |
11: 76,857,839 (GRCm39) |
D327G |
probably damaging |
Het |
Bmt2 |
A |
T |
6: 13,628,752 (GRCm39) |
H310Q |
probably damaging |
Het |
Cfap46 |
C |
T |
7: 139,240,605 (GRCm39) |
S56N |
probably damaging |
Het |
Col19a1 |
T |
C |
1: 24,576,013 (GRCm39) |
K110E |
unknown |
Het |
Cyp2c68 |
T |
C |
19: 39,700,939 (GRCm39) |
D293G |
probably damaging |
Het |
Ears2 |
T |
A |
7: 121,638,985 (GRCm39) |
K480* |
probably null |
Het |
Ehd4 |
G |
A |
2: 119,921,694 (GRCm39) |
P521S |
probably damaging |
Het |
Endov |
G |
T |
11: 119,382,291 (GRCm39) |
|
probably benign |
Het |
Fgfr2 |
T |
G |
7: 129,769,441 (GRCm39) |
T648P |
probably benign |
Het |
Hsf5 |
A |
G |
11: 87,513,922 (GRCm39) |
Y329C |
probably damaging |
Het |
Kntc1 |
T |
A |
5: 123,929,590 (GRCm39) |
S1308T |
probably benign |
Het |
Mill1 |
A |
T |
7: 17,998,566 (GRCm39) |
T259S |
possibly damaging |
Het |
Ms4a4c |
C |
T |
19: 11,396,400 (GRCm39) |
A111V |
probably damaging |
Het |
Myh1 |
G |
T |
11: 67,110,610 (GRCm39) |
R1507M |
probably damaging |
Het |
Nbeal1 |
G |
A |
1: 60,256,384 (GRCm39) |
D210N |
probably benign |
Het |
Neo1 |
G |
T |
9: 58,829,202 (GRCm39) |
|
probably benign |
Het |
Nipsnap2 |
A |
G |
5: 129,831,915 (GRCm39) |
D236G |
probably damaging |
Het |
Plekhh2 |
G |
T |
17: 84,903,734 (GRCm39) |
|
probably null |
Het |
Prox2 |
A |
T |
12: 85,141,552 (GRCm39) |
M217K |
probably benign |
Het |
Rgl2 |
G |
A |
17: 34,152,110 (GRCm39) |
G299E |
probably benign |
Het |
Rragb |
T |
G |
X: 151,954,294 (GRCm39) |
C370W |
possibly damaging |
Het |
Scn9a |
A |
T |
2: 66,393,945 (GRCm39) |
N209K |
probably damaging |
Het |
Sec61g |
A |
T |
11: 16,451,817 (GRCm39) |
|
probably benign |
Het |
Slc38a7 |
A |
G |
8: 96,567,105 (GRCm39) |
|
probably benign |
Het |
Smcr8 |
A |
T |
11: 60,669,193 (GRCm39) |
K114* |
probably null |
Het |
Stag3 |
T |
C |
5: 138,298,397 (GRCm39) |
L730P |
probably damaging |
Het |
Syn3 |
A |
G |
10: 86,190,280 (GRCm39) |
L183P |
probably damaging |
Het |
Tbk1 |
A |
T |
10: 121,388,155 (GRCm39) |
C637S |
probably benign |
Het |
Tmem30c |
A |
T |
16: 57,090,437 (GRCm39) |
Y257N |
probably damaging |
Het |
Trpm3 |
C |
T |
19: 22,965,023 (GRCm39) |
T1506M |
probably benign |
Het |
Yes1 |
A |
C |
5: 32,812,473 (GRCm39) |
K248Q |
probably benign |
Het |
Zfp638 |
A |
T |
6: 83,933,680 (GRCm39) |
K811N |
probably damaging |
Het |
|
Other mutations in Efhc1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
IGL03264:Efhc1
|
APN |
1 |
21,037,715 (GRCm39) |
missense |
probably benign |
|
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 |
2015-04-16 |