Incidental Mutation 'R5977:Efhc1'
| ID |
481164 |
| 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 |
044159-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.079)
|
| Stock # |
R5977 (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 G
at 21030442 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 125
(Y125C)
|
| 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: Y125C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000042343
Gene: ENSMUSG00000041809
AA Change: Y125C
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160782
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.3%
|
| Validation Efficiency |
97% (72/74) |
| 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: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700017N19Rik |
A |
T |
10: 100,451,106 (GRCm39) |
R446S |
probably damaging |
Het |
| 2900092C05Rik |
A |
T |
7: 12,288,664 (GRCm39) |
H159L |
probably benign |
Het |
| 4933405O20Rik |
G |
A |
7: 50,249,838 (GRCm39) |
V291I |
probably damaging |
Het |
| A2ml1 |
A |
G |
6: 128,558,085 (GRCm39) |
Y24H |
probably damaging |
Het |
| Adgrv1 |
C |
T |
13: 81,583,678 (GRCm39) |
|
probably null |
Het |
| Ankrd52 |
C |
T |
10: 128,218,566 (GRCm39) |
H351Y |
probably damaging |
Het |
| Anks6 |
C |
A |
4: 47,035,748 (GRCm39) |
A588S |
probably benign |
Het |
| Arl15 |
T |
G |
13: 114,070,645 (GRCm39) |
V80G |
probably damaging |
Het |
| Atp8a1 |
A |
G |
5: 67,904,628 (GRCm39) |
I532T |
possibly damaging |
Het |
| Birc6 |
T |
C |
17: 74,910,031 (GRCm39) |
C1475R |
probably damaging |
Het |
| Carmil1 |
C |
T |
13: 24,253,719 (GRCm39) |
R394Q |
probably damaging |
Het |
| Cbfa2t2 |
T |
C |
2: 154,359,697 (GRCm39) |
I254T |
probably damaging |
Het |
| Cemip2 |
A |
G |
19: 21,803,447 (GRCm39) |
T827A |
probably benign |
Het |
| Col6a3 |
A |
G |
1: 90,749,571 (GRCm39) |
V421A |
possibly damaging |
Het |
| Cped1 |
T |
C |
6: 22,254,607 (GRCm39) |
V1000A |
probably damaging |
Het |
| Cr1l |
A |
T |
1: 194,797,076 (GRCm39) |
Y282* |
probably null |
Het |
| Cryl1 |
G |
T |
14: 57,620,236 (GRCm39) |
T43K |
probably benign |
Het |
| Csmd2 |
C |
T |
4: 127,952,827 (GRCm39) |
P92L |
probably damaging |
Het |
| Ddx60 |
G |
A |
8: 62,474,444 (GRCm39) |
|
probably null |
Het |
| Dhrs7b |
C |
T |
11: 60,743,328 (GRCm39) |
R187* |
probably null |
Het |
| Dmtf1 |
T |
C |
5: 9,190,451 (GRCm39) |
T88A |
probably damaging |
Het |
| Dnah2 |
T |
C |
11: 69,411,707 (GRCm39) |
E305G |
possibly damaging |
Het |
| Dscaml1 |
A |
C |
9: 45,632,596 (GRCm39) |
N1154T |
probably benign |
Het |
| Egflam |
T |
A |
15: 7,347,726 (GRCm39) |
Y68F |
possibly damaging |
Het |
| Gcm2 |
A |
G |
13: 41,256,603 (GRCm39) |
V382A |
probably damaging |
Het |
| Gm18358 |
A |
G |
7: 84,739,756 (GRCm39) |
|
noncoding transcript |
Het |
| Gm3443 |
T |
G |
19: 21,534,960 (GRCm39) |
I75S |
probably benign |
Het |
| Gpr182 |
C |
A |
10: 127,586,748 (GRCm39) |
V68F |
possibly damaging |
Het |
| Herc1 |
T |
A |
9: 66,340,604 (GRCm39) |
M1651K |
possibly damaging |
Het |
| Hey1 |
A |
T |
3: 8,731,418 (GRCm39) |
|
probably null |
Het |
| Ighv1-43 |
A |
C |
12: 114,909,829 (GRCm39) |
V31G |
probably benign |
Het |
| Il17rc |
T |
C |
6: 113,459,692 (GRCm39) |
V450A |
probably damaging |
Het |
| Kbtbd4 |
T |
G |
2: 90,736,487 (GRCm39) |
V166G |
probably benign |
Het |
| Marveld2 |
T |
C |
13: 100,748,197 (GRCm39) |
N294S |
possibly damaging |
Het |
| Mtdh |
A |
G |
15: 34,099,720 (GRCm39) |
K61E |
probably damaging |
Het |
| Muc5ac |
T |
C |
7: 141,350,104 (GRCm39) |
S616P |
possibly damaging |
Het |
| Myh15 |
T |
C |
16: 48,973,866 (GRCm39) |
L1292P |
probably damaging |
Het |
| Nek8 |
C |
T |
11: 78,058,651 (GRCm39) |
V550M |
probably benign |
Het |
| Nup155 |
T |
A |
15: 8,159,721 (GRCm39) |
|
probably null |
Het |
| Or2y17 |
G |
A |
11: 49,231,592 (GRCm39) |
V78M |
probably damaging |
Het |
| Or7c70 |
A |
T |
10: 78,683,572 (GRCm39) |
M59K |
possibly damaging |
Het |
| Or8b36 |
ATTGCTGTTT |
ATTGCTGTTTGCTGTTT |
9: 37,937,836 (GRCm39) |
|
probably null |
Het |
| Papln |
G |
A |
12: 83,831,143 (GRCm39) |
W1099* |
probably null |
Het |
| Pcdhb17 |
A |
G |
18: 37,618,720 (GRCm39) |
Y170C |
probably damaging |
Het |
| Pramel12 |
T |
C |
4: 143,144,229 (GRCm39) |
Y192H |
probably benign |
Het |
| Prss39 |
T |
G |
1: 34,541,783 (GRCm39) |
C287G |
probably damaging |
Het |
| Pyroxd2 |
A |
G |
19: 42,723,911 (GRCm39) |
V338A |
probably damaging |
Het |
| Rab19 |
T |
A |
6: 39,360,860 (GRCm39) |
F3I |
probably benign |
Het |
| Relt |
A |
G |
7: 100,512,355 (GRCm39) |
|
probably benign |
Het |
| Sbf2 |
T |
A |
7: 109,977,193 (GRCm39) |
H647L |
probably benign |
Het |
| Scube1 |
C |
T |
15: 83,513,689 (GRCm39) |
C327Y |
probably damaging |
Het |
| Sec14l4 |
A |
C |
11: 3,990,055 (GRCm39) |
Q118P |
possibly damaging |
Het |
| Shisa9 |
C |
G |
16: 12,085,292 (GRCm39) |
D300E |
probably benign |
Het |
| Smg1 |
A |
G |
7: 117,740,580 (GRCm39) |
|
probably benign |
Het |
| Sncaip |
A |
G |
18: 53,002,393 (GRCm39) |
T305A |
probably benign |
Het |
| Sorcs3 |
T |
C |
19: 48,784,889 (GRCm39) |
V1104A |
probably damaging |
Het |
| Ugt1a6b |
C |
T |
1: 88,143,982 (GRCm39) |
R201C |
probably damaging |
Het |
| Unc119b |
A |
G |
5: 115,268,612 (GRCm39) |
V91A |
probably benign |
Het |
| Uvssa |
A |
G |
5: 33,547,204 (GRCm39) |
K257E |
probably damaging |
Het |
| Vmn1r199 |
A |
C |
13: 22,567,416 (GRCm39) |
M237L |
probably benign |
Het |
| Vmn1r69 |
G |
A |
7: 10,314,417 (GRCm39) |
R26W |
probably damaging |
Het |
| Vmn2r54 |
A |
G |
7: 12,366,143 (GRCm39) |
F264L |
probably damaging |
Het |
| Vmn2r7 |
C |
T |
3: 64,623,464 (GRCm39) |
W285* |
probably null |
Het |
| Vmn2r78 |
T |
A |
7: 86,569,541 (GRCm39) |
S145T |
possibly damaging |
Het |
| Vmn2r78 |
T |
A |
7: 86,604,115 (GRCm39) |
N764K |
probably benign |
Het |
| Wdr5b |
T |
G |
16: 35,862,374 (GRCm39) |
H164Q |
probably damaging |
Het |
| Zcchc7 |
G |
A |
4: 44,894,982 (GRCm39) |
V236I |
possibly damaging |
Het |
| Zfp729b |
G |
A |
13: 67,739,740 (GRCm39) |
R842C |
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 |
|
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'- CAGGACACTAGTTCCACTCTTC -3'
(R):5'- ACGGAGAATGCACTCTACCTG -3'
Sequencing Primer
(F):5'- AGTTCCACTCTTCCTGGATTGTG -3'
(R):5'- GTCAACAATTCGGAAGGTTTTGCC -3'
|
| Posted On |
2017-06-26 |
Incidental Mutation