Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00549:Efhc1'

277738

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL00549

Quality Score

Status

Chromosome

Chromosomal Location

21021850-21061065 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 21049705 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 522 (Q522*)

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: Q522*

SMART Domains

Protein: ENSMUSP00000042343
Gene: ENSMUSG00000041809
AA Change: Q522*

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

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: 14 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd33	C	T	15: 101,014,840 (GRCm39)	L76F	probably damaging	Het
Ccdc149	C	T	5: 52,533,664 (GRCm39)	V501I	probably benign	Het
Exoc8	A	T	8: 125,623,611 (GRCm39)	I252N	probably damaging	Het
Gucy1a2	T	A	9: 3,759,418 (GRCm39)	M408K	probably damaging	Het
Igkv4-70	A	G	6: 69,245,075 (GRCm39)	S49P	probably damaging	Het
Itga1	C	T	13: 115,185,832 (GRCm39)	E57K	possibly damaging	Het
Mavs	T	C	2: 131,088,636 (GRCm39)	L480P	probably damaging	Het
Orc2	T	A	1: 58,520,201 (GRCm39)	Q160L	probably benign	Het
Phldb1	A	G	9: 44,622,443 (GRCm39)		probably null	Het
Pkd1	T	A	17: 24,791,735 (GRCm39)	S1141T	probably benign	Het
Slc8a1	A	G	17: 81,956,600 (GRCm39)	I146T	probably damaging	Het
Specc1l	G	A	10: 75,082,055 (GRCm39)	V501I	probably benign	Het
Taf2	T	C	15: 54,894,511 (GRCm39)	T937A	probably benign	Het
Vps9d1	C	A	8: 123,971,937 (GRCm39)	R556L	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
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
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

Posted On

2015-04-16