Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02567:Efhc1'

298874

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Efhc1

Ensembl Gene

ENSMUSG00000041809

Gene Name

EF-hand domain (C-terminal) containing 1

Synonyms

mRib72-1, myoclonin1, 1700029F22Rik

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.092) question?

Stock #

IGL02567

Quality Score

Status

Chromosome

Chromosomal Location

20951626-20990841 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 20972964 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 369 (V369E)

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: V369E

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000042343
Gene: ENSMUSG00000041809
AA Change: V369E

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aff4	C	A	11: 53,372,751	S199R	possibly damaging	Het
Ano1	A	G	7: 144,611,625	L621P	probably damaging	Het
Calcr	C	T	6: 3,691,564	V404M	probably damaging	Het
Carmil3	A	G	14: 55,498,882	S635G	possibly damaging	Het
Ccl12	C	A	11: 82,102,621	S28R	possibly damaging	Het
Cdc45	C	T	16: 18,798,729	M200I	probably benign	Het
Cdhr3	T	C	12: 33,038,901	N761D	probably benign	Het
Col14a1	T	C	15: 55,344,961		probably null	Het
Col28a1	T	C	6: 8,014,819	K862R	possibly damaging	Het
Cyp2c66	C	T	19: 39,186,640		probably benign	Het
D5Ertd615e	T	C	5: 45,163,416		noncoding transcript	Het
Deup1	T	C	9: 15,575,283	E367G	probably damaging	Het
Dpp8	T	G	9: 65,078,776	Y849*	probably null	Het
Epg5	A	G	18: 78,033,073	Y2562C	probably damaging	Het
Fam189a1	T	A	7: 64,786,731	M101L	possibly damaging	Het
Fbln5	A	G	12: 101,761,800		probably null	Het
Frem1	A	T	4: 83,000,055	M551K	probably damaging	Het
Gba2	T	C	4: 43,567,281	S889G	probably benign	Het
Golph3	C	T	15: 12,349,421	R176*	probably null	Het
Got2	A	T	8: 95,872,201	F191Y	probably benign	Het
Gtf2ird2	G	T	5: 134,213,048		probably benign	Het
Hist4h4	G	A	6: 136,804,274	R36W	probably damaging	Het
Hivep3	A	G	4: 120,133,956	T2218A	probably damaging	Het
Htr1f	C	T	16: 64,926,248	G227D	probably benign	Het
Ifi202b	C	T	1: 173,963,804	S436N	possibly damaging	Het
Nf1	T	A	11: 79,547,143	V2109D	probably damaging	Het
Opa1	C	A	16: 29,588,286	D29E	probably benign	Het
Papln	C	T	12: 83,778,837	P631S	probably benign	Het
Pde4c	T	A	8: 70,747,921	M352K	probably benign	Het
Pigu	T	C	2: 155,331,192	T129A	possibly damaging	Het
Pla2g4c	T	A	7: 13,346,040	H424Q	probably damaging	Het
Ptpn13	T	G	5: 103,562,291	L1564R	probably damaging	Het
Rbm5	T	C	9: 107,744,274	D642G	probably damaging	Het
Rnf111	T	C	9: 70,459,005	T384A	probably damaging	Het
Scn11a	T	C	9: 119,804,489	T393A	probably damaging	Het
Sned1	A	T	1: 93,274,347	K619M	probably damaging	Het
Srrm1	G	A	4: 135,325,104	P658L	unknown	Het
Syt9	A	G	7: 107,436,661	Y295C	probably damaging	Het
Taar7f	T	A	10: 24,050,425	Y306N	probably damaging	Het
Tmem107	T	G	11: 69,071,019	L25V	possibly damaging	Het
Wdr24	T	G	17: 25,824,348	I48S	probably damaging	Het
Zc3hc1	T	C	6: 30,374,849	D231G	probably benign	Het
Zfp142	T	A	1: 74,578,147	S342C	possibly damaging	Het
Zfp142	T	G	1: 74,578,149	K341T	possibly damaging	Het
Zfp142	T	C	1: 74,578,150	K341E	possibly damaging	Het
Zfp804b	T	A	5: 6,769,989	I989L	probably benign	Het
Zfyve9	A	C	4: 108,674,523	V1095G	probably damaging	Het

Other mutations in Efhc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00514:Efhc1	APN	1	20979481	nonsense	probably null
IGL00549:Efhc1	APN	1	20979481	nonsense	probably null
IGL01611:Efhc1	APN	1	20990687	makesense	probably null
IGL01916:Efhc1	APN	1	20978749	missense	probably damaging	1.00
IGL02366:Efhc1	APN	1	20960262	missense	probably damaging	0.99
IGL02590:Efhc1	APN	1	20967384	missense	probably damaging	1.00
IGL02869:Efhc1	APN	1	20967343	missense	probably damaging	0.96
IGL03264:Efhc1	APN	1	20967491	missense	probably benign
IGL03292:Efhc1	APN	1	20960272	missense	possibly damaging	0.89
IGL03097:Efhc1	UTSW	1	20972825	missense	probably damaging	1.00
P0023:Efhc1	UTSW	1	20955527	missense	probably benign
R0180:Efhc1	UTSW	1	20967489	missense	probably benign
R0220:Efhc1	UTSW	1	20967358	missense	probably damaging	0.98
R0391:Efhc1	UTSW	1	20960188	missense	probably damaging	1.00
R0765:Efhc1	UTSW	1	20978652	missense	probably benign	0.00
R1293:Efhc1	UTSW	1	20978772	missense	probably damaging	0.96
R1414:Efhc1	UTSW	1	20961289	missense	probably damaging	1.00
R1644:Efhc1	UTSW	1	20967401	nonsense	probably null
R1799:Efhc1	UTSW	1	20979538	missense	probably benign	0.00
R1932:Efhc1	UTSW	1	20967400	missense	probably damaging	1.00
R1991:Efhc1	UTSW	1	20989560	nonsense	probably null
R2103:Efhc1	UTSW	1	20989560	nonsense	probably null
R3956:Efhc1	UTSW	1	20978666	missense	probably damaging	0.96
R4812:Efhc1	UTSW	1	20990647	missense	probably damaging	0.99
R5064:Efhc1	UTSW	1	20974963	missense	possibly damaging	0.91
R5562:Efhc1	UTSW	1	20972880	missense	probably damaging	0.98
R5800:Efhc1	UTSW	1	20978781	missense	probably benign	0.00
R5948:Efhc1	UTSW	1	20972828	missense	probably damaging	0.99
R5977:Efhc1	UTSW	1	20960218	missense	probably damaging	1.00
R6313:Efhc1	UTSW	1	20979428	missense	possibly damaging	0.69
R6375:Efhc1	UTSW	1	20972940	missense	probably benign	0.05
R6512:Efhc1	UTSW	1	20960349	missense	probably damaging	0.99
R6530:Efhc1	UTSW	1	20961142	splice site	probably null
R6865:Efhc1	UTSW	1	20960218	missense	probably damaging	1.00
R7398:Efhc1	UTSW	1	20989520	missense	probably benign
R7656:Efhc1	UTSW	1	20961057	splice site	probably null
R7676:Efhc1	UTSW	1	20967369	missense	probably damaging	1.00
R7719:Efhc1	UTSW	1	20979520	missense	probably benign
R7775:Efhc1	UTSW	1	20979461	missense	probably damaging	1.00
R7778:Efhc1	UTSW	1	20979461	missense	probably damaging	1.00
R7824:Efhc1	UTSW	1	20979461	missense	probably damaging	1.00
R7857:Efhc1	UTSW	1	20975002	missense	probably benign	0.11
R7970:Efhc1	UTSW	1	20951795	missense	probably benign	0.12
R8187:Efhc1	UTSW	1	20960172	missense	probably damaging	1.00
R8485:Efhc1	UTSW	1	20960236	missense	possibly damaging	0.95
R8752:Efhc1	UTSW	1	20989468	missense	probably benign
R8862:Efhc1	UTSW	1	20967349	missense
R9086:Efhc1	UTSW	1	20955368	missense	probably damaging	1.00
R9328:Efhc1	UTSW	1	20960374	missense	probably damaging	1.00

Posted On

2015-04-16