Incidental Mutation 'R9086:Efhc1'
ID |
690573 |
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 |
068905-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.079)
|
Stock # |
R9086 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
21021850-21061065 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 21025592 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 33
(Y33H)
|
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: Y33H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000042343 Gene: ENSMUSG00000041809 AA Change: Y33H
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: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
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: 69 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca9 |
T |
C |
11: 109,992,879 (GRCm39) |
E1595G |
probably damaging |
Het |
Ank1 |
T |
C |
8: 23,589,636 (GRCm39) |
V608A |
probably damaging |
Het |
Arl14epl |
T |
C |
18: 47,065,661 (GRCm39) |
V142A |
possibly damaging |
Het |
Atp8a1 |
T |
C |
5: 67,932,159 (GRCm39) |
D210G |
|
Het |
Baz1b |
T |
C |
5: 135,260,538 (GRCm39) |
F1112L |
probably damaging |
Het |
Cage1 |
T |
A |
13: 38,206,898 (GRCm39) |
I316F |
probably damaging |
Het |
Car2 |
A |
C |
3: 14,952,968 (GRCm39) |
T37P |
probably benign |
Het |
Catsper2 |
TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT |
TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT |
2: 121,228,053 (GRCm39) |
|
probably benign |
Het |
Cntnap3 |
T |
A |
13: 64,929,573 (GRCm39) |
D542V |
probably damaging |
Het |
Coro1b |
T |
C |
19: 4,202,525 (GRCm39) |
Y338H |
probably damaging |
Het |
Ctdspl2 |
G |
A |
2: 121,838,298 (GRCm39) |
|
probably null |
Het |
Cyp2a12 |
T |
C |
7: 26,735,944 (GRCm39) |
F451S |
probably damaging |
Het |
Dpm2 |
T |
C |
2: 32,462,391 (GRCm39) |
L59P |
probably damaging |
Het |
Duoxa2 |
A |
G |
2: 122,131,821 (GRCm39) |
Y170C |
probably damaging |
Het |
Dus2 |
T |
A |
8: 106,742,573 (GRCm39) |
Y34* |
probably null |
Het |
Dzip3 |
A |
G |
16: 48,781,493 (GRCm39) |
I266T |
possibly damaging |
Het |
Ebf3 |
T |
C |
7: 136,800,994 (GRCm39) |
T455A |
possibly damaging |
Het |
Echdc2 |
C |
T |
4: 108,027,076 (GRCm39) |
Q74* |
probably null |
Het |
Fam20a |
A |
T |
11: 109,566,754 (GRCm39) |
C378* |
probably null |
Het |
Fbxo25 |
C |
A |
8: 13,989,621 (GRCm39) |
P356Q |
probably damaging |
Het |
Fig4 |
G |
T |
10: 41,161,399 (GRCm39) |
T59K |
possibly damaging |
Het |
Gbp10 |
T |
A |
5: 105,366,369 (GRCm39) |
M512L |
probably benign |
Het |
Gdf10 |
T |
A |
14: 33,654,221 (GRCm39) |
Y243N |
probably damaging |
Het |
Golga5 |
T |
A |
12: 102,458,476 (GRCm39) |
S640T |
probably benign |
Het |
H1f9 |
A |
T |
11: 94,859,083 (GRCm39) |
K126M |
possibly damaging |
Het |
Ints1 |
A |
T |
5: 139,743,947 (GRCm39) |
H1540Q |
probably benign |
Het |
Lipo3 |
A |
T |
19: 33,534,529 (GRCm39) |
L310Q |
probably benign |
Het |
Lrrk2 |
A |
G |
15: 91,640,051 (GRCm39) |
K1532R |
probably benign |
Het |
Ltc4s |
T |
C |
11: 50,128,074 (GRCm39) |
Y59C |
probably damaging |
Het |
Macf1 |
T |
A |
4: 123,377,944 (GRCm39) |
H1427L |
probably damaging |
Het |
Mroh2b |
A |
G |
15: 4,982,754 (GRCm39) |
|
probably null |
Het |
Mthfd1l |
A |
T |
10: 3,923,412 (GRCm39) |
D53V |
probably benign |
Het |
Muc4 |
C |
A |
16: 32,577,842 (GRCm39) |
P303Q |
|
Het |
Nrxn1 |
A |
G |
17: 90,469,792 (GRCm39) |
F1293S |
probably damaging |
Het |
Nrxn2 |
G |
A |
19: 6,540,108 (GRCm39) |
E803K |
probably damaging |
Het |
Nup155 |
A |
G |
15: 8,177,830 (GRCm39) |
D1071G |
possibly damaging |
Het |
Or1l4b |
T |
A |
2: 37,036,426 (GRCm39) |
D67E |
probably damaging |
Het |
Or2ag18 |
A |
T |
7: 106,405,126 (GRCm39) |
I181N |
probably benign |
Het |
Or2ak6 |
T |
A |
11: 58,592,955 (GRCm39) |
S143T |
possibly damaging |
Het |
Papln |
A |
G |
12: 83,821,633 (GRCm39) |
E287G |
probably damaging |
Het |
Pex13 |
C |
A |
11: 23,615,760 (GRCm39) |
G29C |
probably damaging |
Het |
Phrf1 |
C |
A |
7: 140,839,412 (GRCm39) |
T869K |
unknown |
Het |
Pitrm1 |
A |
G |
13: 6,627,517 (GRCm39) |
T912A |
probably benign |
Het |
Pla2g4c |
A |
G |
7: 13,071,692 (GRCm39) |
K171E |
probably benign |
Het |
Pnpla7 |
A |
T |
2: 24,929,709 (GRCm39) |
T833S |
probably damaging |
Het |
Por |
G |
T |
5: 135,744,918 (GRCm39) |
|
probably null |
Het |
Rab3ip |
G |
A |
10: 116,775,310 (GRCm39) |
S16L |
probably damaging |
Het |
Rabgef1 |
A |
T |
5: 130,240,792 (GRCm39) |
I304F |
probably benign |
Het |
Rbbp8 |
T |
C |
18: 11,875,736 (GRCm39) |
V883A |
possibly damaging |
Het |
Rnase4 |
A |
G |
14: 51,342,429 (GRCm39) |
D51G |
possibly damaging |
Het |
Rnf13 |
A |
C |
3: 57,740,997 (GRCm39) |
D291A |
probably benign |
Het |
Rps6kb2 |
A |
T |
19: 4,209,270 (GRCm39) |
I191N |
probably damaging |
Het |
Scn1a |
A |
G |
2: 66,181,358 (GRCm39) |
L55S |
probably benign |
Het |
Son |
T |
A |
16: 91,467,418 (GRCm39) |
F2260I |
unknown |
Het |
Spata31h1 |
C |
T |
10: 82,124,577 (GRCm39) |
S2811N |
probably benign |
Het |
Ssr1 |
A |
G |
13: 38,167,449 (GRCm39) |
I238T |
probably benign |
Het |
Stk11ip |
A |
G |
1: 75,506,818 (GRCm39) |
E633G |
possibly damaging |
Het |
Svs3a |
A |
G |
2: 164,132,062 (GRCm39) |
Y211C |
probably benign |
Het |
Sytl1 |
T |
A |
4: 132,988,175 (GRCm39) |
E60D |
possibly damaging |
Het |
Tlcd5 |
C |
T |
9: 43,022,664 (GRCm39) |
R230Q |
probably benign |
Het |
Tlr1 |
T |
C |
5: 65,083,198 (GRCm39) |
I460V |
probably damaging |
Het |
Tmem64 |
T |
C |
4: 15,266,718 (GRCm39) |
I256T |
probably damaging |
Het |
Ttll5 |
G |
A |
12: 85,964,516 (GRCm39) |
A553T |
possibly damaging |
Het |
Ttll5 |
A |
T |
12: 86,071,107 (GRCm39) |
T1327S |
probably benign |
Het |
Upp2 |
T |
A |
2: 58,680,177 (GRCm39) |
C334* |
probably null |
Het |
Wdr74 |
C |
A |
19: 8,713,358 (GRCm39) |
N24K |
possibly damaging |
Het |
Zbtb42 |
G |
A |
12: 112,645,848 (GRCm39) |
V8I |
probably benign |
Het |
Zfp541 |
T |
A |
7: 15,824,329 (GRCm39) |
L1078Q |
probably damaging |
Het |
Zfr2 |
T |
C |
10: 81,076,029 (GRCm39) |
V212A |
probably 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 |
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 |
|
|
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'- GCAGCAAAACATGTTGATGTAC -3'
(R):5'- GCAGGAACAAACTCTGCAAG -3'
Sequencing Primer
(F):5'- CTGACCATCCAGGAGATCTGAG -3'
(R):5'- CAAACTCTGCAAGTGGGGC -3'
|
Posted On |
2021-12-30 |