Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02958:Efhc2'

365242

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Efhc2

Ensembl Gene

ENSMUSG00000025038

Gene Name

EF-hand domain (C-terminal) containing 2

Synonyms

mRib72-2, 4933407D04Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.174) question?

Stock #

IGL02958

Quality Score

Status

Chromosome

Chromosomal Location

16998288-17185607 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

C to T at 17027485 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000026014 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026014]

AlphaFold

Q9D485

Predicted Effect

probably benign
Transcript: ENSMUST00000026014

SMART Domains

Protein: ENSMUSP00000026014
Gene: ENSMUSG00000025038

Domain	Start	End	E-Value	Type
DM10	75	182	2.04e-51	SMART
DM10	226	368	6.9e-49	SMART
DM10	430	537	2.52e-42	SMART
SCOP:d2mysb_	560	693	9e-5	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 a protein which contains three DM10 domains and three calcium-binding EF-hand motifs. A related protein is encoded by a gene on chromosome 6. It has been suggested that both proteins are involved in the development of epilepsy (PMID: 15258581, 16112844) and that this gene may be associated with fear recognition in individuals with Turner syndrome. [provided by RefSeq, Aug 2011]

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars2	G	T	17: 45,829,098 (GRCm39)	V755L	probably benign	Het
Abhd15	T	C	11: 77,406,791 (GRCm39)	V256A	possibly damaging	Het
Agtr1b	A	T	3: 20,370,258 (GRCm39)	V116E	possibly damaging	Het
Ahi1	A	T	10: 20,839,698 (GRCm39)	D203V	probably damaging	Het
Aplp2	G	T	9: 31,075,972 (GRCm39)		probably benign	Het
Arid4a	T	C	12: 71,144,337 (GRCm39)	S1249P	probably benign	Het
Asz1	T	A	6: 18,073,813 (GRCm39)	K298M	possibly damaging	Het
C4bp	A	G	1: 130,564,532 (GRCm39)	I384T	probably damaging	Het
Cacna1e	C	A	1: 154,341,487 (GRCm39)	A1236S	probably damaging	Het
Cdh13	T	C	8: 120,039,460 (GRCm39)	I634T	possibly damaging	Het
Cemip	A	T	7: 83,624,263 (GRCm39)	F524L	probably damaging	Het
Dnah7c	G	A	1: 46,696,271 (GRCm39)	R2051H	probably damaging	Het
Dnajc17	T	C	2: 119,016,243 (GRCm39)	K77E	probably benign	Het
Ergic2	A	T	6: 148,083,441 (GRCm39)	*50K	probably null	Het
Fam83g	C	T	11: 61,598,548 (GRCm39)	P812S	probably damaging	Het
Flg2	C	T	3: 93,110,920 (GRCm39)	R983W	unknown	Het
Itih3	T	C	14: 30,635,139 (GRCm39)	T73A	probably benign	Het
Kcnj1	A	G	9: 32,307,851 (GRCm39)	S72G	probably damaging	Het
Kcnn4	T	C	7: 24,074,170 (GRCm39)	V78A	probably benign	Het
Lrp1b	T	A	2: 41,192,928 (GRCm39)	D1353V	probably damaging	Het
Lrrc2	T	A	9: 110,791,741 (GRCm39)		probably null	Het
Mplkipl1	G	T	19: 61,164,118 (GRCm39)	Q106K	possibly damaging	Het
Ndufs8	T	C	19: 3,961,232 (GRCm39)	E45G	probably benign	Het
Nell1	G	A	7: 49,870,085 (GRCm39)		probably null	Het
Nxt1	A	G	2: 148,517,692 (GRCm39)		probably benign	Het
Or2y17	A	G	11: 49,232,127 (GRCm39)	Y256C	probably benign	Het
Or5al5	T	A	2: 85,961,351 (GRCm39)	I219F	probably benign	Het
Pdzd8	A	T	19: 59,288,804 (GRCm39)	C865*	probably null	Het
Pop1	G	T	15: 34,530,509 (GRCm39)	C969F	probably damaging	Het
Rc3h2	A	C	2: 37,304,712 (GRCm39)	I16S	probably damaging	Het
Shank1	T	C	7: 44,003,897 (GRCm39)	V1863A	possibly damaging	Het
Slc15a4	A	T	5: 127,681,729 (GRCm39)	L296Q	possibly damaging	Het
Spmip1	G	A	6: 29,471,625 (GRCm39)	G34R	probably damaging	Het
Ssr4	T	C	X: 72,830,856 (GRCm39)		probably benign	Het
Supt20	T	A	3: 54,621,144 (GRCm39)		probably benign	Het
Ttc8	A	T	12: 98,930,803 (GRCm39)	K282N	probably benign	Het
Usp40	A	T	1: 87,906,207 (GRCm39)	V676E	probably damaging	Het
Vmn1r43	T	C	6: 89,847,031 (GRCm39)	I152V	probably benign	Het
Vmn2r61	A	T	7: 41,949,361 (GRCm39)	I594F	probably benign	Het
Vps53	A	C	11: 76,008,537 (GRCm39)	I261S	probably damaging	Het
Wdr19	T	A	5: 65,370,150 (GRCm39)		probably null	Het
Zc3hav1	T	A	6: 38,309,919 (GRCm39)	D301V	probably damaging	Het

Other mutations in Efhc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01293:Efhc2	APN	X	17,073,934 (GRCm39)	missense	probably benign	0.04
IGL01317:Efhc2	APN	X	17,071,198 (GRCm39)	splice site	probably benign
IGL02215:Efhc2	APN	X	17,096,817 (GRCm39)	missense	probably damaging	1.00
R2867:Efhc2	UTSW	X	17,027,484 (GRCm39)	splice site	probably benign
R4052:Efhc2	UTSW	X	17,096,789 (GRCm39)	missense	possibly damaging	0.94
R4207:Efhc2	UTSW	X	17,096,789 (GRCm39)	missense	possibly damaging	0.94
R4208:Efhc2	UTSW	X	17,096,789 (GRCm39)	missense	possibly damaging	0.94
X0063:Efhc2	UTSW	X	17,029,059 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-12-18