Incidental Mutation 'R7656:Efhc1'
| ID |
628377 |
| 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 |
045732-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.088)
|
| Stock # |
R7656 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
21021850-21061065 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 21031281 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| 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
|
| SMART Domains |
Protein: ENSMUSP00000042343
Gene: ENSMUSG00000041809
| 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: 98.9%
|
| Validation Efficiency |
100% (66/66) |
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abitram |
A |
G |
4: 56,804,218 (GRCm39) |
I78V |
probably benign |
Het |
| Acot2 |
A |
G |
12: 84,039,691 (GRCm39) |
Y400C |
probably benign |
Het |
| Agbl1 |
A |
G |
7: 76,059,080 (GRCm39) |
M237V |
|
Het |
| Atrnl1 |
C |
A |
19: 57,599,811 (GRCm39) |
S9* |
probably null |
Het |
| BC031181 |
A |
T |
18: 75,142,406 (GRCm39) |
K71* |
probably null |
Het |
| Bmal2 |
A |
G |
6: 146,707,940 (GRCm39) |
T21A |
probably benign |
Het |
| Brpf1 |
A |
T |
6: 113,291,835 (GRCm39) |
M294L |
probably benign |
Het |
| Camk2g |
T |
G |
14: 20,789,410 (GRCm39) |
D382A |
possibly damaging |
Het |
| Ccdc33 |
T |
A |
9: 58,025,748 (GRCm39) |
R94W |
probably damaging |
Het |
| Cd244a |
T |
A |
1: 171,404,823 (GRCm39) |
L225Q |
probably damaging |
Het |
| Chsy1 |
G |
T |
7: 65,820,778 (GRCm39) |
V338F |
probably damaging |
Het |
| Col14a1 |
A |
G |
15: 55,225,846 (GRCm39) |
I170V |
unknown |
Het |
| Col6a2 |
G |
T |
10: 76,443,590 (GRCm39) |
Q492K |
probably benign |
Het |
| Dnah12 |
G |
T |
14: 26,581,273 (GRCm39) |
V3168L |
probably benign |
Het |
| Dnah7a |
T |
C |
1: 53,535,164 (GRCm39) |
S2699G |
possibly damaging |
Het |
| Fsip2 |
A |
G |
2: 82,807,886 (GRCm39) |
K1402E |
possibly damaging |
Het |
| Ghdc |
C |
T |
11: 100,660,493 (GRCm39) |
A127T |
probably benign |
Het |
| Glp1r |
T |
C |
17: 31,149,572 (GRCm39) |
|
probably null |
Het |
| Gm19410 |
A |
T |
8: 36,276,253 (GRCm39) |
M1637L |
probably benign |
Het |
| Grm5 |
T |
G |
7: 87,779,459 (GRCm39) |
D998E |
probably benign |
Het |
| Krtcap3 |
A |
G |
5: 31,409,904 (GRCm39) |
T157A |
probably damaging |
Het |
| Ltf |
A |
T |
9: 110,853,462 (GRCm39) |
K18* |
probably null |
Het |
| Luc7l2 |
A |
G |
6: 38,580,399 (GRCm39) |
R333G |
unknown |
Het |
| Mdc1 |
T |
G |
17: 36,161,773 (GRCm39) |
S895R |
probably benign |
Het |
| Mef2a |
G |
A |
7: 66,945,142 (GRCm39) |
T80M |
probably damaging |
Het |
| Mitd1 |
T |
A |
1: 37,924,356 (GRCm39) |
I65F |
probably benign |
Het |
| Mms19 |
A |
G |
19: 41,933,011 (GRCm39) |
L1026P |
probably damaging |
Het |
| Mtbp |
G |
T |
15: 55,472,922 (GRCm39) |
V629L |
unknown |
Het |
| Ncapd3 |
T |
A |
9: 26,966,801 (GRCm39) |
I545N |
possibly damaging |
Het |
| Nin |
G |
A |
12: 70,089,542 (GRCm39) |
T1291M |
|
Het |
| Or10z1 |
T |
A |
1: 174,077,784 (GRCm39) |
K236N |
probably damaging |
Het |
| Or5b123 |
A |
T |
19: 13,597,197 (GRCm39) |
I181F |
probably damaging |
Het |
| Orc3 |
G |
T |
4: 34,587,032 (GRCm39) |
C352* |
probably null |
Het |
| Oxct2b |
G |
A |
4: 123,011,550 (GRCm39) |
G490D |
probably benign |
Het |
| Pcdhb16 |
A |
T |
18: 37,612,458 (GRCm39) |
T473S |
probably benign |
Het |
| Phkg2 |
G |
A |
7: 127,182,074 (GRCm39) |
G365D |
probably damaging |
Het |
| Pira1 |
T |
C |
7: 3,742,281 (GRCm39) |
E82G |
probably damaging |
Het |
| Plekhd1 |
A |
G |
12: 80,768,934 (GRCm39) |
|
probably null |
Het |
| Ppp2r3d |
A |
T |
9: 101,088,911 (GRCm39) |
F471I |
probably benign |
Het |
| Prl3d1 |
T |
C |
13: 27,284,018 (GRCm39) |
C196R |
possibly damaging |
Het |
| Prmt1 |
A |
T |
7: 44,633,552 (GRCm39) |
F14L |
probably benign |
Het |
| Prox1 |
A |
G |
1: 189,894,418 (GRCm39) |
L9P |
probably damaging |
Het |
| Ptpn13 |
T |
A |
5: 103,688,849 (GRCm39) |
F881I |
probably benign |
Het |
| Rab3ip |
A |
G |
10: 116,750,044 (GRCm39) |
I363T |
probably benign |
Het |
| Rapgef3 |
T |
C |
15: 97,659,090 (GRCm39) |
E134G |
probably damaging |
Het |
| Rapgef6 |
C |
T |
11: 54,585,279 (GRCm39) |
P1559L |
probably benign |
Het |
| Rnf180 |
T |
C |
13: 105,304,096 (GRCm39) |
K507E |
probably damaging |
Het |
| Rpl3l |
T |
C |
17: 24,949,960 (GRCm39) |
I53T |
probably benign |
Het |
| Rtl1 |
T |
C |
12: 109,557,442 (GRCm39) |
I1466V |
unknown |
Het |
| Saxo2 |
A |
G |
7: 82,284,559 (GRCm39) |
Y100H |
probably damaging |
Het |
| Selenoh |
G |
T |
2: 84,500,724 (GRCm39) |
R39S |
probably damaging |
Het |
| Sgsm2 |
A |
G |
11: 74,756,323 (GRCm39) |
V342A |
probably damaging |
Het |
| Slc26a9 |
T |
A |
1: 131,690,982 (GRCm39) |
F587I |
possibly damaging |
Het |
| Smoc1 |
A |
T |
12: 81,152,682 (GRCm39) |
Q91L |
possibly damaging |
Het |
| Spag9 |
A |
C |
11: 93,887,389 (GRCm39) |
H98P |
possibly damaging |
Het |
| Spata31e3 |
T |
G |
13: 50,401,122 (GRCm39) |
K401N |
probably benign |
Het |
| T2 |
T |
A |
17: 8,637,047 (GRCm39) |
C337* |
probably null |
Het |
| Tbc1d19 |
A |
G |
5: 54,054,377 (GRCm39) |
Y455C |
probably damaging |
Het |
| Thbd |
A |
G |
2: 148,249,340 (GRCm39) |
L176P |
probably damaging |
Het |
| Tmem116 |
A |
G |
5: 121,590,252 (GRCm39) |
|
probably null |
Het |
| Tmem25 |
C |
T |
9: 44,709,640 (GRCm39) |
V54I |
possibly damaging |
Het |
| Trpm4 |
C |
T |
7: 44,971,233 (GRCm39) |
V378I |
probably benign |
Het |
| Trrap |
G |
T |
5: 144,779,422 (GRCm39) |
W3129C |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,558,660 (GRCm39) |
D29740E |
probably damaging |
Het |
| Vcan |
C |
T |
13: 89,833,233 (GRCm39) |
C3073Y |
probably damaging |
Het |
| Xrra1 |
T |
A |
7: 99,560,189 (GRCm39) |
D388E |
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 |
|
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 |
|
|
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'- GCCTTCCTACTATATAAGTGTGCG -3'
(R):5'- CCGGAGTTGAGTGTAAGGATC -3'
Sequencing Primer
(F):5'- GTGTGCGtatatatgtatgtctat -3'
(R):5'- AAGGATCCAGGGGTATCTTCTC -3'
|
| Posted On |
2020-03-18 |
Incidental Mutation