Incidental Mutation 'R8752:Efhc1'
| ID |
663889 |
| 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 |
068595-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.079)
|
| Stock # |
R8752 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
21021850-21061065 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 21059692 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Tyrosine
at position 581
(N581Y)
|
| 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: N581Y
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000042343
Gene: ENSMUSG00000041809
AA Change: N581Y
| 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 |
0.0846 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
100% (55/55) |
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700012B07Rik |
T |
C |
11: 109,704,396 (GRCm39) |
K82R |
probably damaging |
Het |
| Acad8 |
A |
T |
9: 26,896,853 (GRCm39) |
M202K |
probably damaging |
Het |
| Adam29 |
A |
T |
8: 56,325,328 (GRCm39) |
C375* |
probably null |
Het |
| Adat2 |
A |
T |
10: 13,432,604 (GRCm39) |
E35D |
probably benign |
Het |
| Afm |
A |
C |
5: 90,700,424 (GRCm39) |
E600D |
probably benign |
Het |
| Ahnak |
T |
A |
19: 8,992,901 (GRCm39) |
D4728E |
probably damaging |
Het |
| Ak7 |
AAGGAG |
AAG |
12: 105,713,476 (GRCm39) |
|
probably benign |
Het |
| Ankrd28 |
C |
A |
14: 31,477,699 (GRCm39) |
|
probably benign |
Het |
| Ankrd31 |
A |
T |
13: 96,916,879 (GRCm39) |
H131L |
probably damaging |
Het |
| Ano5 |
T |
C |
7: 51,196,617 (GRCm39) |
F183L |
probably damaging |
Het |
| Asah1 |
G |
A |
8: 41,813,314 (GRCm39) |
S33L |
possibly damaging |
Het |
| Catsperg2 |
T |
C |
7: 29,404,744 (GRCm39) |
D773G |
possibly damaging |
Het |
| Ccdc47 |
A |
G |
11: 106,095,818 (GRCm39) |
Y293H |
probably damaging |
Het |
| Cd302 |
A |
G |
2: 60,102,529 (GRCm39) |
F30S |
probably damaging |
Het |
| Ces1c |
C |
G |
8: 93,846,964 (GRCm39) |
A243P |
probably damaging |
Het |
| Deptor |
A |
T |
15: 55,044,280 (GRCm39) |
T149S |
probably benign |
Het |
| Dnah14 |
G |
A |
1: 181,455,581 (GRCm39) |
R902H |
probably benign |
Het |
| Dnah5 |
A |
G |
15: 28,290,365 (GRCm39) |
I1252V |
probably benign |
Het |
| Dnah7c |
A |
G |
1: 46,711,701 (GRCm39) |
I2643V |
probably benign |
Het |
| Dnajc4 |
C |
T |
19: 6,966,801 (GRCm39) |
V177I |
probably benign |
Het |
| Espl1 |
A |
G |
15: 102,214,759 (GRCm39) |
T767A |
probably damaging |
Het |
| Etv6 |
A |
G |
6: 134,243,391 (GRCm39) |
E382G |
probably benign |
Het |
| Foxd4 |
A |
T |
19: 24,878,094 (GRCm39) |
D35E |
probably damaging |
Het |
| Gata2 |
T |
C |
6: 88,177,513 (GRCm39) |
V181A |
possibly damaging |
Het |
| Gm5114 |
A |
T |
7: 39,057,927 (GRCm39) |
M564K |
probably damaging |
Het |
| Gpr45 |
A |
T |
1: 43,071,842 (GRCm39) |
I162F |
possibly damaging |
Het |
| Hic1 |
A |
G |
11: 75,060,206 (GRCm39) |
F47S |
probably benign |
Het |
| Hsf1 |
C |
A |
15: 76,384,344 (GRCm39) |
S417* |
probably null |
Het |
| Id4 |
A |
T |
13: 48,415,065 (GRCm39) |
H31L |
possibly damaging |
Het |
| Il12rb2 |
T |
C |
6: 67,328,265 (GRCm39) |
S322G |
probably damaging |
Het |
| Lcn11 |
T |
C |
2: 25,668,138 (GRCm39) |
Y99H |
probably damaging |
Het |
| Mipol1 |
G |
A |
12: 57,372,367 (GRCm39) |
R142Q |
probably damaging |
Het |
| Mpp2 |
A |
G |
11: 101,976,129 (GRCm39) |
S10P |
probably benign |
Het |
| Muc15 |
A |
T |
2: 110,561,758 (GRCm39) |
N65Y |
possibly damaging |
Het |
| Nav3 |
T |
C |
10: 109,596,165 (GRCm39) |
|
probably benign |
Het |
| Ndst3 |
C |
T |
3: 123,342,684 (GRCm39) |
R709Q |
probably damaging |
Het |
| Nek11 |
G |
T |
9: 105,225,207 (GRCm39) |
Q102K |
probably benign |
Het |
| Nhsl1 |
A |
G |
10: 18,407,113 (GRCm39) |
N1416D |
probably benign |
Het |
| Or13p3 |
A |
C |
4: 118,567,083 (GRCm39) |
T160P |
probably damaging |
Het |
| Or2v1 |
T |
A |
11: 49,025,505 (GRCm39) |
V162E |
possibly damaging |
Het |
| Or4c111 |
T |
C |
2: 88,844,231 (GRCm39) |
Y59C |
probably damaging |
Het |
| Or5p72 |
T |
C |
7: 108,022,480 (GRCm39) |
I234T |
probably benign |
Het |
| Or5w20 |
T |
C |
2: 87,726,591 (GRCm39) |
I16T |
possibly damaging |
Het |
| Parp4 |
G |
T |
14: 56,886,073 (GRCm39) |
E1717D |
unknown |
Het |
| Pla2g4d |
A |
T |
2: 120,099,248 (GRCm39) |
|
probably null |
Het |
| Pramel52-ps |
A |
T |
5: 94,529,354 (GRCm39) |
R41S |
possibly damaging |
Het |
| Psmc2 |
A |
G |
5: 22,001,533 (GRCm39) |
I107V |
probably benign |
Het |
| Rhod |
G |
T |
19: 4,476,121 (GRCm39) |
T210N |
probably damaging |
Het |
| Setx |
A |
T |
2: 29,048,992 (GRCm39) |
D2006V |
probably damaging |
Het |
| Sfpq |
T |
A |
4: 126,919,969 (GRCm39) |
M541K |
possibly damaging |
Het |
| Sorbs1 |
C |
T |
19: 40,349,872 (GRCm39) |
|
probably null |
Het |
| Sv2b |
C |
A |
7: 74,855,842 (GRCm39) |
M149I |
possibly damaging |
Het |
| Svil |
T |
A |
18: 5,060,366 (GRCm39) |
|
probably benign |
Het |
| Vmn1r216 |
G |
T |
13: 23,283,880 (GRCm39) |
V188F |
probably damaging |
Het |
| Vmn2r27 |
A |
G |
6: 124,201,018 (GRCm39) |
F313S |
probably benign |
Het |
| Vmn2r44 |
A |
G |
7: 8,370,805 (GRCm39) |
F747S |
probably damaging |
Het |
| Vmn2r95 |
T |
C |
17: 18,661,738 (GRCm39) |
S495P |
probably damaging |
Het |
| Xpo5 |
C |
T |
17: 46,547,838 (GRCm39) |
|
probably benign |
Het |
| Zscan20 |
A |
C |
4: 128,479,480 (GRCm39) |
C1004G |
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 |
|
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'- AGGCTCCGTGTTACAACTG -3'
(R):5'- CCTGTGCAATCAGGCCAAAC -3'
Sequencing Primer
(F):5'- AGGAGCTTCCCAGATTTCAC -3'
(R):5'- TGCAATCAGGCCAAACCACAATC -3'
|
| Posted On |
2021-03-08 |
Incidental Mutation