Incidental Mutation 'R1293:Efhc1'
ID |
150687 |
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 |
039359-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.079)
|
Stock # |
R1293 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
21021850-21061065 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 21048996 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 470
(T470A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000042343
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038447]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000038447
AA Change: T470A
PolyPhen 2
Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000042343 Gene: ENSMUSG00000041809 AA Change: T470A
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 |
- 1x: 98.9%
- 3x: 98.1%
- 10x: 95.7%
- 20x: 90.5%
|
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: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acss2 |
G |
A |
2: 155,393,141 (GRCm39) |
R289Q |
probably benign |
Het |
Adgrl4 |
G |
A |
3: 151,213,081 (GRCm39) |
E374K |
probably benign |
Het |
Ate1 |
G |
A |
7: 129,996,455 (GRCm39) |
R505C |
probably benign |
Het |
Cntn4 |
T |
C |
6: 106,330,685 (GRCm39) |
I101T |
probably benign |
Het |
Dmtf1 |
T |
A |
5: 9,190,383 (GRCm39) |
|
probably null |
Het |
Dnah17 |
C |
A |
11: 118,017,963 (GRCm39) |
|
probably null |
Het |
Fam118b |
A |
T |
9: 35,132,721 (GRCm39) |
Y313N |
probably damaging |
Het |
Gm10142 |
T |
C |
10: 77,551,869 (GRCm39) |
S77P |
probably benign |
Het |
Kat8 |
T |
C |
7: 127,521,422 (GRCm39) |
|
probably null |
Het |
Lrp2 |
T |
C |
2: 69,353,646 (GRCm39) |
|
probably null |
Het |
Lrrc10 |
A |
G |
10: 116,881,838 (GRCm39) |
T171A |
probably benign |
Het |
Mcidas |
A |
G |
13: 113,133,926 (GRCm39) |
T137A |
probably benign |
Het |
Med1 |
G |
A |
11: 98,047,862 (GRCm39) |
T978I |
possibly damaging |
Het |
Muc6 |
C |
A |
7: 141,238,255 (GRCm39) |
C75F |
probably damaging |
Het |
Olfm3 |
A |
G |
3: 114,895,579 (GRCm39) |
I154V |
possibly damaging |
Het |
Or2ag15 |
A |
G |
7: 106,341,058 (GRCm39) |
C28R |
probably damaging |
Het |
Or2y12 |
G |
A |
11: 49,426,393 (GRCm39) |
C127Y |
probably damaging |
Het |
Or5ak22 |
T |
A |
2: 85,230,697 (GRCm39) |
|
probably null |
Het |
Or7g30 |
A |
T |
9: 19,352,728 (GRCm39) |
E173V |
probably benign |
Het |
Rsrc1 |
G |
A |
3: 67,263,612 (GRCm39) |
R324Q |
probably damaging |
Het |
Samd9l |
G |
T |
6: 3,373,947 (GRCm39) |
P1105T |
possibly damaging |
Het |
Sgcb |
C |
A |
5: 73,792,870 (GRCm39) |
V311F |
probably benign |
Het |
Siglec1 |
A |
G |
2: 130,915,451 (GRCm39) |
V1380A |
probably benign |
Het |
Spred1 |
C |
T |
2: 117,007,889 (GRCm39) |
P265L |
probably damaging |
Het |
Unc13b |
T |
A |
4: 43,235,190 (GRCm39) |
H3259Q |
probably damaging |
Het |
Unc13c |
C |
T |
9: 73,481,356 (GRCm39) |
D1694N |
probably benign |
Het |
Usp24 |
A |
G |
4: 106,280,750 (GRCm39) |
R2355G |
probably benign |
Het |
Vmn1r53 |
T |
A |
6: 90,201,196 (GRCm39) |
N43Y |
possibly damaging |
Het |
Wtip |
T |
C |
7: 33,809,646 (GRCm39) |
S359G |
possibly damaging |
Het |
Zfp984 |
T |
A |
4: 147,840,398 (GRCm39) |
K151M |
possibly damaging |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TCCTGAGATGAAGCCTGTCTGTCC -3'
(R):5'- GCTTAAGAATGCAGTGTGTCACAGC -3'
Sequencing Primer
(F):5'- TGGACCCTCAATACATGGAATG -3'
(R):5'- GCTACAAAGAATCCATTTTCCAGGG -3'
|
Posted On |
2014-01-29 |