Incidental Mutation 'R7970:Efhc1'
| ID |
650529 |
| 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 |
046013-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.079)
|
| Stock # |
R7970 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
21021850-21061065 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 21022019 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 21
(T21M)
|
| 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: T21M
PolyPhen 2
Score 0.121 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000042343
Gene: ENSMUSG00000041809
AA Change: T21M
| 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: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (57/57) |
| 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 |
|---|
| Acnat1 |
A |
G |
4: 49,449,266 (GRCm39) |
F167L |
probably damaging |
Het |
| Acsbg2 |
A |
G |
17: 57,156,728 (GRCm39) |
Y437H |
probably benign |
Het |
| Amotl2 |
C |
T |
9: 102,600,968 (GRCm39) |
T345I |
probably benign |
Het |
| Anapc2 |
T |
C |
2: 25,163,299 (GRCm39) |
S179P |
possibly damaging |
Het |
| Aopep |
A |
G |
13: 63,180,974 (GRCm39) |
N312S |
probably benign |
Het |
| Arhgef1 |
G |
A |
7: 24,616,306 (GRCm39) |
D317N |
probably damaging |
Het |
| Arrdc4 |
G |
A |
7: 68,390,820 (GRCm39) |
P307S |
probably damaging |
Het |
| B3gnt2 |
T |
C |
11: 22,786,255 (GRCm39) |
Y311C |
probably damaging |
Het |
| Brf1 |
T |
C |
12: 112,927,820 (GRCm39) |
D453G |
probably damaging |
Het |
| Clpsl2 |
G |
A |
17: 28,769,702 (GRCm39) |
G55R |
probably damaging |
Het |
| Dao |
AGG |
AG |
5: 114,153,270 (GRCm39) |
|
probably benign |
Het |
| Dst |
G |
T |
1: 34,221,828 (GRCm39) |
C2544F |
possibly damaging |
Het |
| Efs |
A |
G |
14: 55,157,960 (GRCm39) |
|
probably null |
Het |
| Elp1 |
A |
T |
4: 56,771,466 (GRCm39) |
Y944N |
probably damaging |
Het |
| Evl |
C |
T |
12: 108,647,783 (GRCm39) |
R295* |
probably null |
Het |
| Fam171a2 |
A |
T |
11: 102,328,692 (GRCm39) |
V689E |
possibly damaging |
Het |
| Fam184a |
T |
C |
10: 53,575,421 (GRCm39) |
T63A |
probably damaging |
Het |
| Fam186a |
T |
C |
15: 99,831,467 (GRCm39) |
D2897G |
unknown |
Het |
| Fbxw11 |
T |
G |
11: 32,672,101 (GRCm39) |
S224A |
probably benign |
Het |
| Flnc |
G |
T |
6: 29,447,525 (GRCm39) |
E1109D |
possibly damaging |
Het |
| Foxn4 |
A |
G |
5: 114,401,068 (GRCm39) |
|
probably null |
Het |
| Gm19410 |
A |
G |
8: 36,282,801 (GRCm39) |
E2009G |
probably benign |
Het |
| Gm9958 |
A |
G |
5: 90,515,568 (GRCm39) |
|
probably benign |
Het |
| Gprin3 |
C |
T |
6: 59,330,150 (GRCm39) |
R719Q |
possibly damaging |
Het |
| Grip2 |
A |
T |
6: 91,763,513 (GRCm39) |
I147N |
probably benign |
Het |
| H2-DMb2 |
A |
G |
17: 34,369,572 (GRCm39) |
R239G |
probably benign |
Het |
| Hydin |
A |
C |
8: 111,035,723 (GRCm39) |
D138A |
probably damaging |
Het |
| Kctd17 |
CAGCTGGAGGAGC |
CAGC |
15: 78,321,113 (GRCm39) |
|
probably benign |
Het |
| Lgr6 |
A |
G |
1: 134,921,723 (GRCm39) |
I484T |
probably benign |
Het |
| Mkrn2 |
T |
A |
6: 115,594,269 (GRCm39) |
C327S |
probably damaging |
Het |
| Mnt |
C |
T |
11: 74,733,036 (GRCm39) |
A288V |
probably damaging |
Het |
| Nckap5 |
T |
A |
1: 125,952,758 (GRCm39) |
K1265* |
probably null |
Het |
| Ncoa3 |
A |
T |
2: 165,893,277 (GRCm39) |
H194L |
probably benign |
Het |
| Ogn |
A |
T |
13: 49,762,742 (GRCm39) |
H28L |
probably benign |
Het |
| Or56a41 |
C |
A |
7: 104,740,556 (GRCm39) |
V97L |
probably benign |
Het |
| Or5b101 |
T |
A |
19: 13,005,058 (GRCm39) |
I212F |
probably damaging |
Het |
| Or9m1b |
A |
T |
2: 87,836,169 (GRCm39) |
F309I |
probably benign |
Het |
| Pclo |
T |
C |
5: 14,764,492 (GRCm39) |
S1037P |
|
Het |
| Phlpp1 |
T |
A |
1: 106,101,015 (GRCm39) |
Y428N |
probably damaging |
Het |
| Ptpre |
A |
G |
7: 135,280,048 (GRCm39) |
T591A |
possibly damaging |
Het |
| Rtn1 |
A |
T |
12: 72,355,648 (GRCm39) |
D99E |
probably benign |
Het |
| Scn7a |
A |
T |
2: 66,506,173 (GRCm39) |
I1572N |
probably damaging |
Het |
| Sema3a |
T |
A |
5: 13,649,375 (GRCm39) |
M708K |
possibly damaging |
Het |
| Slc12a4 |
G |
A |
8: 106,678,237 (GRCm39) |
R319W |
possibly damaging |
Het |
| Slc9a2 |
T |
C |
1: 40,765,374 (GRCm39) |
Y255H |
probably damaging |
Het |
| Spock3 |
T |
C |
8: 63,798,749 (GRCm39) |
F254L |
probably damaging |
Het |
| St6gal1 |
G |
A |
16: 23,176,585 (GRCm39) |
A393T |
probably benign |
Het |
| St6galnac2 |
T |
C |
11: 116,581,169 (GRCm39) |
D51G |
probably benign |
Het |
| Stard13 |
T |
A |
5: 150,986,726 (GRCm39) |
K261N |
possibly damaging |
Het |
| Tlk1 |
T |
C |
2: 70,582,644 (GRCm39) |
R162G |
possibly damaging |
Het |
| Tlr2 |
T |
C |
3: 83,745,201 (GRCm39) |
D294G |
probably benign |
Het |
| Tnks |
A |
G |
8: 35,323,080 (GRCm39) |
|
probably null |
Het |
| Trip4 |
A |
G |
9: 65,746,298 (GRCm39) |
S533P |
probably damaging |
Het |
| Ttc3 |
T |
A |
16: 94,258,223 (GRCm39) |
W1674R |
probably damaging |
Het |
| Tut4 |
G |
A |
4: 108,343,651 (GRCm39) |
S221N |
probably benign |
Het |
| Vmn2r114 |
T |
C |
17: 23,530,186 (GRCm39) |
N74D |
probably benign |
Het |
| Zdbf2 |
T |
C |
1: 63,343,330 (GRCm39) |
Y570H |
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 |
|
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 |
|
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'- AGAGTCAGTAGTGCTGTGCG -3'
(R):5'- AAGGCGCTGAGTAGGGTTAC -3'
Sequencing Primer
(F):5'- CCCTCTCTCGACTAGTGTGTTTGG -3'
(R):5'- CTGAGTAGGGTTACAGTGCAGC -3'
|
| Posted On |
2020-09-15 |
Incidental Mutation