Incidental Mutation 'R1644:Efhc1'
| ID |
173728 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Efhc1
|
| Ensembl Gene |
ENSMUSG00000041809 |
| Gene Name |
EF-hand domain (C-terminal) containing 1 |
| Synonyms |
1700029F22Rik, myoclonin1, mRib72-1 |
| MMRRC Submission |
039680-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.088)
|
| Stock # |
R1644 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
21021850-21061065 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to A
at 21037625 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 267
(Y267*)
|
| 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: Y267*
|
| SMART Domains |
Protein: ENSMUSP00000042343
Gene: ENSMUSG00000041809
AA Change: Y267*
| 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 |
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.0%
- 20x: 91.6%
|
| Validation Efficiency |
98% (62/63) |
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A830018L16Rik |
C |
T |
1: 11,484,814 (GRCm39) |
R8* |
probably null |
Het |
| Acacb |
A |
T |
5: 114,333,346 (GRCm39) |
H490L |
probably damaging |
Het |
| Ace |
C |
A |
11: 105,875,932 (GRCm39) |
H417N |
probably damaging |
Het |
| Adamtsl3 |
A |
G |
7: 82,099,298 (GRCm39) |
N151D |
possibly damaging |
Het |
| Agap1 |
A |
G |
1: 89,591,452 (GRCm39) |
N114S |
probably damaging |
Het |
| Arap3 |
A |
T |
18: 38,117,298 (GRCm39) |
V926D |
probably damaging |
Het |
| Arhgap12 |
A |
T |
18: 6,112,340 (GRCm39) |
I8N |
probably benign |
Het |
| Arhgef17 |
A |
T |
7: 100,578,711 (GRCm39) |
F746I |
probably damaging |
Het |
| Atp6v0a1 |
T |
C |
11: 100,929,612 (GRCm39) |
S471P |
possibly damaging |
Het |
| Bdp1 |
A |
G |
13: 100,197,448 (GRCm39) |
V979A |
probably benign |
Het |
| Ccdc88c |
C |
A |
12: 100,879,733 (GRCm39) |
R1789L |
probably damaging |
Het |
| Cckar |
A |
T |
5: 53,857,215 (GRCm39) |
N327K |
probably benign |
Het |
| Cfap65 |
T |
C |
1: 74,956,334 (GRCm39) |
T1082A |
probably damaging |
Het |
| Clcn7 |
T |
A |
17: 25,378,672 (GRCm39) |
I719N |
probably damaging |
Het |
| Col27a1 |
C |
G |
4: 63,246,868 (GRCm39) |
|
probably benign |
Het |
| Cspp1 |
C |
T |
1: 10,196,663 (GRCm39) |
T179I |
probably damaging |
Het |
| Dnah1 |
C |
T |
14: 31,024,249 (GRCm39) |
|
probably benign |
Het |
| Dnah6 |
A |
G |
6: 73,132,279 (GRCm39) |
V1141A |
probably benign |
Het |
| Dusp4 |
A |
G |
8: 35,285,633 (GRCm39) |
Y298C |
probably damaging |
Het |
| Eif2s1 |
T |
A |
12: 78,913,295 (GRCm39) |
|
probably null |
Het |
| Epo |
A |
G |
5: 137,481,417 (GRCm39) |
V169A |
possibly damaging |
Het |
| Esr1 |
A |
T |
10: 4,951,380 (GRCm39) |
Y586F |
probably benign |
Het |
| Fat2 |
T |
C |
11: 55,178,609 (GRCm39) |
T1484A |
possibly damaging |
Het |
| Fat2 |
T |
C |
11: 55,187,007 (GRCm39) |
T1280A |
possibly damaging |
Het |
| Gm5828 |
T |
C |
1: 16,839,485 (GRCm39) |
|
noncoding transcript |
Het |
| Idh3b |
T |
C |
2: 130,123,430 (GRCm39) |
I187V |
possibly damaging |
Het |
| Kif13a |
A |
C |
13: 46,947,398 (GRCm39) |
V862G |
probably benign |
Het |
| Kndc1 |
A |
G |
7: 139,510,669 (GRCm39) |
D1327G |
probably damaging |
Het |
| Mfsd9 |
T |
A |
1: 40,812,958 (GRCm39) |
R452S |
probably benign |
Het |
| Myh15 |
C |
T |
16: 48,952,566 (GRCm39) |
R879C |
probably benign |
Het |
| Naip2 |
T |
C |
13: 100,319,437 (GRCm39) |
R260G |
possibly damaging |
Het |
| Npat |
T |
G |
9: 53,481,472 (GRCm39) |
L1060R |
probably damaging |
Het |
| Or2aj4 |
T |
A |
16: 19,385,156 (GRCm39) |
H159L |
probably benign |
Het |
| Or4c126 |
A |
T |
2: 89,824,297 (GRCm39) |
T187S |
possibly damaging |
Het |
| Or4c15 |
A |
T |
2: 88,759,731 (GRCm39) |
D309E |
probably benign |
Het |
| Or52n2b |
A |
C |
7: 104,566,015 (GRCm39) |
F163V |
probably benign |
Het |
| Or6f2 |
T |
C |
7: 139,756,561 (GRCm39) |
V176A |
probably benign |
Het |
| Pld5 |
T |
C |
1: 175,803,192 (GRCm39) |
T296A |
possibly damaging |
Het |
| Polq |
C |
T |
16: 36,880,626 (GRCm39) |
A651V |
probably damaging |
Het |
| Polr3a |
G |
A |
14: 24,520,692 (GRCm39) |
P607S |
probably damaging |
Het |
| Ranbp9 |
G |
A |
13: 43,566,015 (GRCm39) |
R424C |
probably damaging |
Het |
| Rsl1 |
G |
A |
13: 67,325,229 (GRCm39) |
|
probably benign |
Het |
| Sema4c |
A |
G |
1: 36,589,885 (GRCm39) |
S490P |
probably damaging |
Het |
| Setd3 |
A |
T |
12: 108,079,603 (GRCm39) |
L300Q |
possibly damaging |
Het |
| Slc15a3 |
T |
C |
19: 10,834,595 (GRCm39) |
I492T |
possibly damaging |
Het |
| Stag1 |
T |
C |
9: 100,762,953 (GRCm39) |
|
probably benign |
Het |
| Tgm4 |
A |
G |
9: 122,880,481 (GRCm39) |
Y294C |
probably damaging |
Het |
| Tm9sf1 |
A |
G |
14: 55,878,757 (GRCm39) |
S212P |
probably benign |
Het |
| Tmcc1 |
A |
G |
6: 116,110,826 (GRCm39) |
S156P |
probably damaging |
Het |
| Vmn1r184 |
A |
C |
7: 25,966,670 (GRCm39) |
M139L |
probably benign |
Het |
| Vmn1r209 |
A |
C |
13: 22,990,652 (GRCm39) |
F13V |
possibly damaging |
Het |
| Xkr5 |
T |
C |
8: 18,984,141 (GRCm39) |
E467G |
probably benign |
Het |
| Zdbf2 |
C |
T |
1: 63,348,131 (GRCm39) |
S2170L |
possibly damaging |
Het |
| Zfp277 |
G |
T |
12: 40,379,609 (GRCm39) |
|
probably null |
Het |
| Zfp62 |
T |
C |
11: 49,106,596 (GRCm39) |
I229T |
probably damaging |
Het |
| Zfp810 |
A |
G |
9: 22,190,324 (GRCm39) |
S195P |
possibly damaging |
Het |
| Zfp94 |
G |
A |
7: 24,010,927 (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 |
|
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 |
|
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 |
|
| Predicted Primers |
|
| Posted On |
2014-04-24 |
Incidental Mutation