Mutagenetix > Incidental Mutation

Incidental Mutation 'R2103:Efhc1'

230643

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

040107-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.079) question?

Stock #

R2103 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

21021850-21061065 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 21059784 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 611 (C611*)

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
AA Change: C611*

SMART Domains

Protein: ENSMUSP00000042343
Gene: ENSMUSG00000041809
AA Change: C611*

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

0.9755

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.2%
20x: 94.9%

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: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadac	C	A	3: 59,947,235 (GRCm39)	P311Q	probably damaging	Het
Acoxl	T	A	2: 127,814,526 (GRCm39)	M314K	probably damaging	Het
Agmat	A	T	4: 141,483,214 (GRCm39)	D216V	probably damaging	Het
Aida	A	T	1: 183,094,627 (GRCm39)	E107D	probably benign	Het
Ano5	A	G	7: 51,187,561 (GRCm39)	K50R	possibly damaging	Het
Anxa2	A	T	9: 69,391,098 (GRCm39)	D95V	probably damaging	Het
Aspm	G	A	1: 139,419,403 (GRCm39)	V3023M	probably damaging	Het
Atg16l2	A	G	7: 100,939,568 (GRCm39)		probably null	Het
B3galt4	G	A	17: 34,169,813 (GRCm39)	R142C	probably damaging	Het
B3galt5	A	T	16: 96,117,225 (GRCm39)	K286M	probably damaging	Het
Best3	A	C	10: 116,838,499 (GRCm39)	I186L	probably benign	Het
Blm	G	T	7: 80,155,697 (GRCm39)		probably null	Het
Cat	A	T	2: 103,293,660 (GRCm39)	D389E	probably damaging	Het
Cert1	T	A	13: 96,771,394 (GRCm39)	N550K	probably damaging	Het
Cluh	C	A	11: 74,550,355 (GRCm39)	C222*	probably null	Het
Cntnap2	G	A	6: 47,275,522 (GRCm39)	E1325K	probably damaging	Het
Col14a1	A	T	15: 55,313,336 (GRCm39)	D1320V	unknown	Het
Cpne7	A	G	8: 123,854,176 (GRCm39)	K288E	possibly damaging	Het
Cyp26b1	A	G	6: 84,552,032 (GRCm39)	S369P	possibly damaging	Het
Cyp2j9	T	A	4: 96,460,201 (GRCm39)	K434M	probably damaging	Het
Dpyd	G	C	3: 118,858,601 (GRCm39)	S605T	probably benign	Het
Dst	A	G	1: 34,229,339 (GRCm39)	T1986A	probably benign	Het
Ebf2	T	A	14: 67,625,391 (GRCm39)	V233D	probably damaging	Het
Ecm2	A	G	13: 49,683,732 (GRCm39)	D570G	probably benign	Het
Epop	T	C	11: 97,519,480 (GRCm39)	T210A	probably benign	Het
Fdxacb1	A	T	9: 50,682,946 (GRCm39)	N101I	probably benign	Het
Fezf1	A	G	6: 23,247,331 (GRCm39)	F248S	possibly damaging	Het
Galnt16	A	G	12: 80,630,430 (GRCm39)	D262G	probably damaging	Het
Gm9507	T	A	10: 77,647,500 (GRCm39)		probably benign	Het
Grin2b	A	T	6: 135,757,138 (GRCm39)	I441N	probably benign	Het
H2-Eb2	A	G	17: 34,553,278 (GRCm39)	I155V	probably benign	Het
Hectd4	C	A	5: 121,493,692 (GRCm39)	D3811E	probably benign	Het
Herc4	T	C	10: 63,081,889 (GRCm39)	S71P	probably benign	Het
Hhipl1	A	G	12: 108,293,977 (GRCm39)	T628A	probably benign	Het
Hoga1	A	C	19: 42,048,459 (GRCm39)		probably null	Het
Igf2bp1	A	G	11: 95,866,122 (GRCm39)	V122A	probably damaging	Het
Il10ra	C	A	9: 45,167,109 (GRCm39)	A481S	probably benign	Het
Klk1b26	A	T	7: 43,666,324 (GRCm39)	T256S	probably damaging	Het
Kndc1	C	T	7: 139,501,150 (GRCm39)	T813I	probably benign	Het
Limch1	A	G	5: 67,156,072 (GRCm39)	K394R	probably benign	Het
Lrrc37a	T	C	11: 103,391,087 (GRCm39)	E1446G	probably benign	Het
Lrrc47	C	T	4: 154,100,350 (GRCm39)	R287W	probably damaging	Het
Mdn1	T	A	4: 32,738,712 (GRCm39)	L3555Q	possibly damaging	Het
Mei1	A	G	15: 81,987,405 (GRCm39)	H399R	possibly damaging	Het
Mei1	G	T	15: 81,991,237 (GRCm39)	V472F	probably damaging	Het
Mrps34	T	A	17: 25,114,464 (GRCm39)		probably null	Het
Myom3	A	G	4: 135,503,723 (GRCm39)	T391A	probably benign	Het
Nfib	G	A	4: 82,248,645 (GRCm39)	T314I	possibly damaging	Het
Or5b99	T	C	19: 12,976,866 (GRCm39)	V172A	possibly damaging	Het
Or5p73	A	G	7: 108,064,810 (GRCm39)	N93S	probably benign	Het
Or6c5	T	C	10: 129,074,368 (GRCm39)	S117P	probably damaging	Het
Or9a2	A	G	6: 41,748,939 (GRCm39)	I98T	probably benign	Het
Pdia3	G	C	2: 121,264,474 (GRCm39)	G346A	probably damaging	Het
Plce1	T	C	19: 38,766,368 (GRCm39)	F2117S	probably damaging	Het
Plec	A	G	15: 76,057,743 (GRCm39)	F4055L	probably damaging	Het
Ppip5k1	A	T	2: 121,152,134 (GRCm39)		probably null	Het
Psma6	T	C	12: 55,454,842 (GRCm39)	I57T	probably benign	Het
Psme2	A	T	14: 55,828,297 (GRCm39)		probably null	Het
Reln	A	T	5: 22,174,358 (GRCm39)	D1948E	possibly damaging	Het
Rsf1	GGCG	GGCGACGGCAGCG	7: 97,229,113 (GRCm39)		probably benign	Het
Sbno1	G	T	5: 124,532,000 (GRCm39)	S727R	probably damaging	Het
Serpina3m	C	A	12: 104,355,958 (GRCm39)	Y208*	probably null	Het
Serpind1	T	C	16: 17,160,808 (GRCm39)	V446A	probably benign	Het
Shc3	T	A	13: 51,596,872 (GRCm39)	M384L	probably benign	Het
Slc38a11	A	G	2: 65,160,683 (GRCm39)	F304L	probably benign	Het
Slc4a5	A	C	6: 83,201,663 (GRCm39)	D4A	probably benign	Het
Slc4a5	G	A	6: 83,274,360 (GRCm39)	A1076T	probably benign	Het
Slpi	C	T	2: 164,197,463 (GRCm39)	C28Y	probably damaging	Het
Sptan1	T	C	2: 29,920,483 (GRCm39)	S2320P	probably damaging	Het
Stim2	A	G	5: 54,262,591 (GRCm39)	T278A	possibly damaging	Het
Sympk	T	A	7: 18,788,041 (GRCm39)	S1186T	probably benign	Het
Tbrg1	T	C	9: 37,560,715 (GRCm39)	D387G	probably benign	Het
Tns2	A	T	15: 102,021,100 (GRCm39)		probably null	Het
Tnxb	A	G	17: 34,901,225 (GRCm39)	Y1013C	probably damaging	Het
Tpsg1	T	C	17: 25,592,267 (GRCm39)	S41P	possibly damaging	Het
Trim36	T	C	18: 46,329,149 (GRCm39)	N85S	probably benign	Het
Trpm6	A	T	19: 18,773,648 (GRCm39)	H380L	probably benign	Het
Tssk4	A	G	14: 55,888,997 (GRCm39)	I174M	probably damaging	Het
Ttn	C	T	2: 76,776,735 (GRCm39)		probably null	Het
Vmn2r114	ATTT	ATT	17: 23,509,906 (GRCm39)		probably null	Het
Vmn2r4	T	A	3: 64,322,704 (GRCm39)	N5I	possibly damaging	Het
Vps11	G	A	9: 44,270,524 (GRCm39)	H183Y	probably damaging	Het
Vsig10l	A	G	7: 43,116,892 (GRCm39)	T476A	possibly damaging	Het
Vwa8	C	T	14: 79,145,670 (GRCm39)	R116C	probably damaging	Het
Vwf	G	A	6: 125,623,293 (GRCm39)	V1797I	probably benign	Het
Wasl	A	T	6: 24,618,377 (GRCm39)	S447T	unknown	Het
Whamm	C	T	7: 81,241,519 (GRCm39)	R277*	probably null	Het
Zfp874a	T	A	13: 67,590,623 (GRCm39)	I354F	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
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
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'- TACAGGAGAACCCATGGTGC -3'
(R):5'- TAAGAGACTCCCGCTGCAAC -3'

Sequencing Primer
(F):5'- AACCCATGGTGCAGGGTAC -3'
(R):5'- ATCCTGTGACGTGGGAAATCC -3'

Posted On

2014-09-18