Mutagenetix > Incidental Mutation

Incidental Mutation 'R1115:Efcab2'

97109

Institutional Source

Beutler Lab

Gene Symbol

Efcab2

Ensembl Gene

ENSMUSG00000026495

Gene Name

EF-hand calcium binding domain 2

Synonyms

D830011E08Rik, 1700073K01Rik

MMRRC Submission

039188-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1115 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

178233650-178312078 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 178265062 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000027775 (fasta)

Gene Model

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

AlphaFold

Q9CQ46

Predicted Effect

probably benign
Transcript: ENSMUST00000027775

SMART Domains

Protein: ENSMUSP00000027775
Gene: ENSMUSG00000026495

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194861

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.9%
20x: 91.8%

Validation Efficiency

100% (34/34)

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acly	C	A	11: 100,370,081 (GRCm39)	V994F	probably damaging	Het
Arfgap3	T	C	15: 83,214,741 (GRCm39)	T182A	probably benign	Het
Bcl2l14	T	C	6: 134,409,102 (GRCm39)		probably benign	Het
Cabin1	T	C	10: 75,553,511 (GRCm39)	M1183V	possibly damaging	Het
Ccr7	A	T	11: 99,036,103 (GRCm39)	I273K	possibly damaging	Het
Cd40	A	G	2: 164,912,681 (GRCm39)	M211V	possibly damaging	Het
Coro2b	T	G	9: 62,338,609 (GRCm39)	E208A	probably damaging	Het
Dennd5a	A	C	7: 109,517,968 (GRCm39)	M556R	probably damaging	Het
Fastkd2	T	C	1: 63,787,114 (GRCm39)		probably benign	Het
Fbxw8	A	C	5: 118,215,636 (GRCm39)		probably benign	Het
Fhip1a	T	C	3: 85,629,802 (GRCm39)	E263G	probably benign	Het
Frem1	T	C	4: 82,939,007 (GRCm39)	D25G	probably benign	Het
Gtf3c3	C	T	1: 54,456,937 (GRCm39)	A488T	probably damaging	Het
Ift52	A	G	2: 162,871,702 (GRCm39)	K178R	probably benign	Het
Kit	T	C	5: 75,810,192 (GRCm39)		probably benign	Het
Map1a	T	C	2: 121,137,859 (GRCm39)		probably null	Het
Mxra7	G	T	11: 116,701,696 (GRCm39)		probably benign	Het
Myt1	C	A	2: 181,453,024 (GRCm39)	S7*	probably null	Het
Nphs1	C	T	7: 30,180,803 (GRCm39)		probably benign	Het
Or10h28	C	T	17: 33,487,940 (GRCm39)	R81*	probably null	Het
Or1l8	C	A	2: 36,817,514 (GRCm39)	G204V	possibly damaging	Het
Osgin2	A	T	4: 15,998,085 (GRCm39)	D512E	possibly damaging	Het
Pde4b	T	A	4: 102,399,352 (GRCm39)		probably benign	Het
Rasef	G	T	4: 73,666,841 (GRCm39)	T146K	possibly damaging	Het
Ren1	T	A	1: 133,284,256 (GRCm39)	V207D	probably damaging	Het
S100a8	A	G	3: 90,577,180 (GRCm39)	D59G	probably damaging	Het
Sdcbp	G	A	4: 6,377,143 (GRCm39)		probably null	Het
Sdk2	C	T	11: 113,729,472 (GRCm39)		silent	Het
Slamf7	A	T	1: 171,466,751 (GRCm39)	D151E	probably benign	Het
Slco1b2	A	G	6: 141,628,980 (GRCm39)	M561V	probably benign	Het
Sned1	G	A	1: 93,209,376 (GRCm39)	V830M	possibly damaging	Het
Stard9	T	C	2: 120,523,331 (GRCm39)	I662T	probably benign	Het
Vwf	T	A	6: 125,632,028 (GRCm39)	V20D	unknown	Het
Znhit6	G	T	3: 145,300,440 (GRCm39)		probably null	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
IGL03122:Efcab2	APN	1	178,265,042 (GRCm39)	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- CCGGAGTCTGTGCATTGAGATTGAAAG -3'
(R):5'- GTACCAAACATGTGGCATCACTAAAGC -3'

Sequencing Primer
(F):5'- TGTCTCACAGCAGACAGATGG -3'
(R):5'- GTGGCATCACTAAAGCTATAATGAAG -3'

Posted On

2014-01-05