Mutagenetix > Incidental Mutation

Incidental Mutation 'R5800:Efhc1'

447328

Institutional Source

Beutler Lab

Gene Symbol

Efhc1

Ensembl Gene

ENSMUSG00000041809

Gene Name

EF-hand domain (C-terminal) containing 1

Synonyms

mRib72-1, myoclonin1, 1700029F22Rik

MMRRC Submission

043389-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.115) question?

Stock #

R5800 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

20951626-20990841 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 20978781 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 473 (V473I)

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: V473I

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000042343
Gene: ENSMUSG00000041809
AA Change: V473I

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

0.0594

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.4%

Validation Efficiency

96% (50/52)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1520401A03Rik	G	A	17: 23,717,992	P72S	probably damaging	Het
4932438A13Rik	A	G	3: 37,052,443	D4974G	probably damaging	Het
Abca12	A	T	1: 71,321,432	V540D	possibly damaging	Het
Adamts8	A	T	9: 30,954,482	D442V	probably damaging	Het
Casp4	G	A	9: 5,308,915		probably null	Het
Cfap45	T	A	1: 172,538,600	V30E	probably damaging	Het
Col6a4	A	G	9: 106,080,275	F117L	probably damaging	Het
Dnah7c	A	T	1: 46,647,015	T1810S	probably benign	Het
Drosha	C	T	15: 12,865,067	T627M	probably damaging	Het
Drosha	C	A	15: 12,902,647	A1001D	probably damaging	Het
Ephx2	T	C	14: 66,107,302	K191R	probably benign	Het
Ero1lb	T	A	13: 12,602,301		probably null	Het
Esyt2	A	T	12: 116,370,188	D837V	possibly damaging	Het
Fip1l1	T	A	5: 74,546,081	D126E	possibly damaging	Het
Fyttd1	C	T	16: 32,891,288	R86C	probably damaging	Het
Gm12888	T	A	4: 121,319,428	T59S	probably damaging	Het
Gm34653	T	C	2: 34,838,642	F151S	possibly damaging	Het
Gm7353	A	T	7: 3,110,168		noncoding transcript	Het
Gpr153	C	T	4: 152,280,077	Q197*	probably null	Het
H2-T23	G	T	17: 36,031,604		probably benign	Het
Ighv1-16	T	A	12: 114,665,911	R85S	probably benign	Het
Ipcef1	T	A	10: 6,890,569	D376V	probably damaging	Het
Kdm1a	T	A	4: 136,573,070		probably null	Het
Klk1b27	A	T	7: 44,055,664	Q85L	probably benign	Het
Krt39	A	T	11: 99,521,145	D38E	probably benign	Het
L1td1	T	C	4: 98,733,762	L187P	possibly damaging	Het
Lrrc8b	C	T	5: 105,481,342	S518L	probably benign	Het
Lyg1	C	T	1: 37,946,953	D176N	probably damaging	Het
Mctp1	A	G	13: 76,688,559	N82D	probably damaging	Het
Muc6	T	C	7: 141,640,423		probably benign	Het
Nynrin	T	C	14: 55,870,631	L1065P	probably damaging	Het
Olfr1474	T	C	19: 13,471,896	S309P	probably benign	Het
Pcdh7	T	A	5: 57,722,225	S1041T	probably damaging	Het
Pkd1l1	T	A	11: 8,861,302	M1518L	probably benign	Het
Prl8a6	G	T	13: 27,435,470	Q90K	probably benign	Het
Ptcd1	T	A	5: 145,159,665	D206V	probably damaging	Het
Rap1gap	C	A	4: 137,720,377	D478E	probably benign	Het
Scn5a	A	G	9: 119,501,666	Y1269H	probably damaging	Het
Sdc2	A	T	15: 33,028,144	H136L	probably benign	Het
Senp6	A	T	9: 80,126,433	I120F	probably damaging	Het
Shisa5	G	A	9: 109,056,094		probably null	Het
Slc19a1	A	G	10: 77,042,269	S213G	probably null	Het
Smim8	TTTAATGAAGAGCT	TT	4: 34,771,261		probably benign	Het
Tbc1d20	T	A	2: 152,308,325		probably null	Het
Tll2	T	C	19: 41,104,934	H481R	probably benign	Het
Tmc7	A	G	7: 118,539,440	V692A	probably benign	Het
Tmem234	T	C	4: 129,607,131		probably null	Het
Vmn1r237	C	G	17: 21,314,807	T264S	probably benign	Het
Vmn2r98	A	T	17: 19,065,998	T253S	probably benign	Het
Zfyve27	T	C	19: 42,182,663	Y191H	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
IGL02567:Efhc1	APN	1	20972964	missense	probably damaging	0.98
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
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
R9619:Efhc1	UTSW	1	20967379	missense	probably benign	0.03
R9625:Efhc1	UTSW	1	20979514	missense	probably benign	0.00
R9747:Efhc1	UTSW	1	20978704	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCTGGACCCTCAATACATGG -3'
(R):5'- ACAGTCAACTACCTCTTATAAGGC -3'

Sequencing Primer
(F):5'- CATTTGGCGTCCTAGAAAGATC -3'
(R):5'- CTTAAGAATGCAGTGTGTCACAGC -3'

Posted On

2016-12-15