Mutagenetix > Incidental Mutation

Incidental Mutation 'R0180:Efhc1'

23793

Institutional Source

Beutler Lab

Gene Symbol

Efhc1

Ensembl Gene

ENSMUSG00000041809

Gene Name

EF-hand domain (C-terminal) containing 1

Synonyms

1700029F22Rik, myoclonin1, mRib72-1

Accession Numbers

Essential gene?

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

Stock #

R0180 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

21021850-21061065 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 21037713 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 297 (M297V)

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: M297V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000042343
Gene: ENSMUSG00000041809
AA Change: M297V

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

0.0898

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.8%
20x: 89.5%

Validation Efficiency

77% (53/69)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110059E24Rik	T	A	19: 21,630,003 (GRCm39)	N24Y	probably damaging	Het
2810408A11Rik	A	T	11: 69,789,702 (GRCm39)	M311K	probably benign	Het
Ackr2	T	C	9: 121,737,982 (GRCm39)	I119T	probably benign	Het
Adamtsl3	A	G	7: 82,225,198 (GRCm39)	M336V	probably benign	Het
Adhfe1	T	A	1: 9,634,082 (GRCm39)	F374I	probably benign	Het
Apob	C	T	12: 8,058,285 (GRCm39)	Q2256*	probably null	Het
Arg1	T	C	10: 24,792,728 (GRCm39)	I169V	probably benign	Het
Atxn1	A	G	13: 45,711,024 (GRCm39)	V636A	probably damaging	Het
B3gnt5	T	A	16: 19,587,850 (GRCm39)	I23K	possibly damaging	Het
Catsperg1	A	T	7: 28,889,856 (GRCm39)		probably null	Het
Celf3	T	A	3: 94,392,647 (GRCm39)	F115L	probably damaging	Het
Cep192	T	A	18: 67,968,559 (GRCm39)	H984Q	probably damaging	Het
Col18a1	A	G	10: 76,932,351 (GRCm39)	V493A	probably benign	Het
Col5a2	C	T	1: 45,450,620 (GRCm39)	G376S	probably damaging	Het
Colec12	A	G	18: 9,848,890 (GRCm39)	H356R	probably damaging	Het
Colec12	C	T	18: 9,858,921 (GRCm39)	P568L	unknown	Het
Cracr2a	T	C	6: 127,581,037 (GRCm39)		probably null	Het
Ctsr	T	C	13: 61,310,559 (GRCm39)	H62R	probably damaging	Het
Cyp4f40	G	T	17: 32,878,641 (GRCm39)	W61L	probably benign	Het
Dnah9	T	G	11: 66,038,116 (GRCm39)	H140P	probably damaging	Het
Dnai7	A	G	6: 145,128,944 (GRCm39)		probably benign	Het
Dnm1	T	G	2: 32,218,005 (GRCm39)	I464L	probably damaging	Het
Dnmt1	G	A	9: 20,819,916 (GRCm39)	T1409I	probably damaging	Het
Dock1	G	A	7: 134,700,566 (GRCm39)	D1109N	probably damaging	Het
Emcn	A	T	3: 137,124,755 (GRCm39)		probably null	Het
Ephb1	A	T	9: 101,804,703 (GRCm39)	M905K	probably damaging	Het
Fbxw10	A	G	11: 62,743,922 (GRCm39)	Y276C	probably benign	Het
Fermt3	C	A	19: 6,979,711 (GRCm39)	S474I	possibly damaging	Het
Frg1	T	A	8: 41,852,105 (GRCm39)		probably null	Het
Gbf1	T	C	19: 46,274,161 (GRCm39)	S1732P	probably benign	Het
Gbp8	A	C	5: 105,179,142 (GRCm39)	L119R	probably damaging	Het
Gldc	C	T	19: 30,078,217 (GRCm39)	A927T	possibly damaging	Het
Gm8836	T	A	6: 70,237,389 (GRCm39)		probably benign	Het
Grhl3	C	T	4: 135,281,841 (GRCm39)	V344I	probably benign	Het
Hhipl1	T	A	12: 108,294,329 (GRCm39)	L745H	probably damaging	Het
Ido1	T	C	8: 25,083,156 (GRCm39)	I90V	possibly damaging	Het
Itpr2	T	A	6: 146,403,407 (GRCm39)		probably benign	Het
Kif1b	T	G	4: 149,298,116 (GRCm39)	S1029R	probably damaging	Het
Kmt2a	G	A	9: 44,738,148 (GRCm39)		probably benign	Het
Limk1	T	C	5: 134,698,115 (GRCm39)	N215D	probably damaging	Het
Lims2	A	G	18: 32,089,368 (GRCm39)	K144E	probably benign	Het
Mfsd6l	A	T	11: 68,447,371 (GRCm39)	Q74L	possibly damaging	Het
Mroh1	T	A	15: 76,312,450 (GRCm39)	S546T	probably damaging	Het
Ncbp3	T	A	11: 72,955,804 (GRCm39)		probably null	Het
Nlrx1	G	A	9: 44,166,756 (GRCm39)	H776Y	possibly damaging	Het
Nptxr	T	C	15: 79,678,604 (GRCm39)	M228V	probably benign	Het
Nsf	T	A	11: 103,821,606 (GRCm39)	L13F	probably damaging	Het
Nyap1	T	C	5: 137,736,283 (GRCm39)	E68G	probably damaging	Het
Or10p22	A	T	10: 128,826,703 (GRCm39)	R307S	possibly damaging	Het
Or51r1	A	G	7: 102,228,239 (GRCm39)	Y179C	probably damaging	Het
Pcdhb9	A	G	18: 37,535,307 (GRCm39)	N434D	probably damaging	Het
Pgm5	T	C	19: 24,793,127 (GRCm39)	D313G	probably damaging	Het
Pkdcc	G	A	17: 83,529,299 (GRCm39)		probably null	Het
Pkp1	T	C	1: 135,814,538 (GRCm39)	K261R	probably benign	Het
Pnpla6	A	G	8: 3,574,250 (GRCm39)		probably null	Het
Polr3b	A	G	10: 84,458,379 (GRCm39)	T17A	probably benign	Het
Ppt2	A	T	17: 34,845,477 (GRCm39)	M98K	probably damaging	Het
Rasal3	T	C	17: 32,618,379 (GRCm39)	D142G	probably benign	Het
Rbm17	G	A	2: 11,592,590 (GRCm39)	S295L	probably benign	Het
Rhbdf1	A	T	11: 32,160,042 (GRCm39)	V153D	possibly damaging	Het
Slc6a3	C	T	13: 73,710,455 (GRCm39)	T355M	probably damaging	Het
Snrnp35	A	T	5: 124,628,883 (GRCm39)		probably benign	Het
Sorcs2	A	T	5: 36,311,189 (GRCm39)	I37N	probably damaging	Het
Tecta	G	T	9: 42,278,109 (GRCm39)	P1133Q	probably benign	Het
Tmem145	A	G	7: 25,014,124 (GRCm39)	I413V	probably benign	Het
Trappc11	G	T	8: 47,981,009 (GRCm39)	T144K	possibly damaging	Het
Triml2	A	T	8: 43,643,346 (GRCm39)	I223L	probably benign	Het
Ube2g2	T	A	10: 77,466,573 (GRCm39)	N19K	possibly damaging	Het
Ubqln3	A	G	7: 103,791,047 (GRCm39)	Y348H	probably damaging	Het
Wfs1	A	G	5: 37,124,372 (GRCm39)	F840L	probably damaging	Het
Zc3h11a	T	C	1: 133,549,349 (GRCm39)	I771V	probably benign	Het
Zdhhc23	G	A	16: 43,794,066 (GRCm39)	P203S	probably benign	Het
Zfp106	T	G	2: 120,364,356 (GRCm39)	T684P	probably damaging	Het
Zfp217	A	T	2: 169,962,057 (GRCm39)	L90Q	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
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
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'- GATTCTATGCCATCTGGGACGACAC -3'
(R):5'- CAGGTTCAGTCTAGAAGCCTTGCTC -3'

Sequencing Primer
(F):5'- ACACGGATAGCTTGTTCGG -3'
(R):5'- GTCAAACCATCTCTACTGGTGTATG -3'

Posted On

2013-04-16