Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03122:Efcab2'

410018

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Efcab2

Ensembl Gene

ENSMUSG00000026495

Gene Name

EF-hand calcium binding domain 2

Synonyms

D830011E08Rik, 1700073K01Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03122

Quality Score

Status

Chromosome

Chromosomal Location

178233650-178312078 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 178265042 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 36 (V36E)

Ref Sequence

ENSEMBL: ENSMUSP00000027775 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027775]

AlphaFold

Q9CQ46

Predicted Effect

probably damaging
Transcript: ENSMUST00000027775
AA Change: V36E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000027775
Gene: ENSMUSG00000026495
AA Change: V36E

Domain	Start	End	E-Value	Type
EFh	20	48	1.4e0	SMART
EFh	98	126	2.63e0	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194861

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The gene encodes a protein that contains two EF-hand calcium-binding domains although its function has yet to be determined. Alternatively spliced transcripts have been observed. [provided by RefSeq, Mar 2014]

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrg7	G	A	16: 56,590,725 (GRCm39)		probably benign	Het
Afap1l1	T	C	18: 61,866,902 (GRCm39)	D719G	probably benign	Het
Amph	C	T	13: 19,287,113 (GRCm39)	T274M	probably damaging	Het
Atp2c2	T	A	8: 120,469,414 (GRCm39)	D396E	possibly damaging	Het
Atpaf1	T	C	4: 115,648,475 (GRCm39)	I164T	probably damaging	Het
Avpr1b	C	A	1: 131,528,257 (GRCm39)	P260Q	probably damaging	Het
Cacna1a	T	C	8: 85,189,305 (GRCm39)		probably benign	Het
Cald1	A	G	6: 34,741,963 (GRCm39)	I449V	probably damaging	Het
Ccdc24	A	G	4: 117,728,942 (GRCm39)		probably null	Het
Cdcp3	A	G	7: 130,798,243 (GRCm39)	Q84R	possibly damaging	Het
Cenpk	C	A	13: 104,378,885 (GRCm39)	Q134K	probably damaging	Het
Clasp1	A	G	1: 118,438,007 (GRCm39)	N373D	probably damaging	Het
Col7a1	T	A	9: 108,790,751 (GRCm39)	S1042T	unknown	Het
Cry2	G	A	2: 92,243,640 (GRCm39)	R439C	probably damaging	Het
Dip2a	G	T	10: 76,110,880 (GRCm39)	D1138E	probably benign	Het
Dlgap3	T	C	4: 127,089,018 (GRCm39)	S205P	possibly damaging	Het
Echdc2	T	A	4: 108,022,777 (GRCm39)	S18T	probably benign	Het
Galk1	A	T	11: 115,901,065 (GRCm39)		probably null	Het
Hoxc11	A	T	15: 102,863,390 (GRCm39)	N144Y	probably damaging	Het
Ift140	T	A	17: 25,305,884 (GRCm39)	C824S	probably damaging	Het
Inf2	A	G	12: 112,570,663 (GRCm39)	S401G	probably benign	Het
Kcnn1	T	G	8: 71,307,724 (GRCm39)	D106A	probably damaging	Het
Lama4	A	G	10: 38,943,959 (GRCm39)	N754S	probably benign	Het
Marchf6	A	G	15: 31,478,439 (GRCm39)		probably null	Het
Nlrp1b	A	C	11: 71,072,659 (GRCm39)	C395G	probably benign	Het
Or2n1d	T	C	17: 38,646,192 (GRCm39)	V48A	probably benign	Het
Or4k2	A	T	14: 50,424,461 (GRCm39)	M71K	probably damaging	Het
Or5ac15	T	C	16: 58,939,801 (GRCm39)	M211V	probably benign	Het
Or9q1	A	G	19: 13,805,014 (GRCm39)	S249P	possibly damaging	Het
Scel	A	G	14: 103,836,842 (GRCm39)	R477G	possibly damaging	Het
Sdk2	A	G	11: 113,732,894 (GRCm39)	S984P	probably damaging	Het
Slc4a7	C	T	14: 14,782,040 (GRCm38)		probably benign	Het
Tas2r103	A	G	6: 133,013,872 (GRCm39)	S65P	probably damaging	Het
Tnip2	T	C	5: 34,661,095 (GRCm39)	E119G	possibly damaging	Het
Zgrf1	T	A	3: 127,381,782 (GRCm39)	L310M	possibly damaging	Het

Other mutations in Efcab2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01576:Efcab2	APN	1	178,264,957 (GRCm39)	splice site	probably benign
IGL01865:Efcab2	APN	1	178,303,253 (GRCm39)	nonsense	probably null
R0153:Efcab2	UTSW	1	178,302,451 (GRCm39)	missense	possibly damaging	0.87
R0309:Efcab2	UTSW	1	178,303,469 (GRCm39)	splice site	probably benign
R0652:Efcab2	UTSW	1	178,308,911 (GRCm39)	missense	probably damaging	1.00
R1115:Efcab2	UTSW	1	178,265,062 (GRCm39)	splice site	probably benign
R5952:Efcab2	UTSW	1	178,303,439 (GRCm39)	missense	probably benign	0.09
R6313:Efcab2	UTSW	1	178,308,936 (GRCm39)	missense	probably benign	0.01
R6679:Efcab2	UTSW	1	178,264,969 (GRCm39)	missense	probably benign	0.00
R7021:Efcab2	UTSW	1	178,308,925 (GRCm39)	missense	probably benign	0.00
R8214:Efcab2	UTSW	1	178,265,015 (GRCm39)	missense	probably benign	0.16
R8442:Efcab2	UTSW	1	178,265,001 (GRCm39)	missense	probably benign	0.01
R9481:Efcab2	UTSW	1	178,308,887 (GRCm39)	missense	probably damaging	1.00
R9625:Efcab2	UTSW	1	178,302,505 (GRCm39)	missense	possibly damaging	0.77

Posted On

2016-08-02