Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01865:Efcab2'

178473

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 #

IGL01865

Quality Score

Status

Chromosome

Chromosomal Location

178233650-178312078 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 178303253 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 91 (Y91*)

Ref Sequence

ENSEMBL: ENSMUSP00000027775 (fasta)

Gene Model

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

AlphaFold

Q9CQ46

Predicted Effect

probably null
Transcript: ENSMUST00000027775
AA Change: Y91*

SMART Domains

Protein: ENSMUSP00000027775
Gene: ENSMUSG00000026495
AA Change: Y91*

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192905

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130023H24Rik	T	C	7: 127,836,107 (GRCm39)	H162R	probably damaging	Het
Adamts10	T	A	17: 33,772,140 (GRCm39)	M1096K	probably damaging	Het
Asap3	G	T	4: 135,963,715 (GRCm39)	C325F	probably damaging	Het
Atm	T	C	9: 53,372,302 (GRCm39)	E2160G	probably damaging	Het
Col4a1	G	A	8: 11,251,790 (GRCm39)		probably benign	Het
Ctdp1	C	T	18: 80,499,199 (GRCm39)	G248S	probably damaging	Het
Dcaf5	A	T	12: 80,386,088 (GRCm39)	D679E	probably benign	Het
Eif3d	G	T	15: 77,851,546 (GRCm39)	T88K	probably benign	Het
Gapvd1	G	A	2: 34,585,515 (GRCm39)	A1049V	probably null	Het
Gm10717	C	T	9: 3,025,616 (GRCm39)	S67L	probably benign	Het
Gm10717	A	T	9: 3,026,287 (GRCm39)	Y195F	probably damaging	Het
Gm10718	A	T	9: 3,025,118 (GRCm39)	Y194F	probably benign	Het
Gm18856	T	A	13: 14,139,508 (GRCm39)		probably benign	Het
Gm21738	G	A	14: 19,416,979 (GRCm38)	S144L	probably benign	Het
Gm9991	A	G	1: 90,606,635 (GRCm39)		noncoding transcript	Het
Hapln1	T	C	13: 89,749,784 (GRCm39)	Y110H	probably damaging	Het
Htr1f	A	G	16: 64,746,282 (GRCm39)	Y337H	probably damaging	Het
Kirrel1	T	A	3: 86,993,731 (GRCm39)	S509C	probably damaging	Het
Limch1	A	T	5: 67,131,923 (GRCm39)	R138*	probably null	Het
Lypla1	A	C	1: 4,907,259 (GRCm39)	I108L	probably damaging	Het
Mc3r	A	G	2: 172,090,975 (GRCm39)	N66D	probably damaging	Het
Melk	T	A	4: 44,344,988 (GRCm39)	C373S	probably benign	Het
Myocd	C	A	11: 65,091,723 (GRCm39)	S73I	probably benign	Het
Nell2	A	G	15: 95,282,962 (GRCm39)	V360A	possibly damaging	Het
Npas4	G	A	19: 5,035,819 (GRCm39)	Q782*	probably null	Het
Or7a36	A	T	10: 78,820,512 (GRCm39)	D296V	possibly damaging	Het
Pdzd8	T	C	19: 59,288,077 (GRCm39)	K1108E	possibly damaging	Het
Per2	A	G	1: 91,349,239 (GRCm39)	I1044T	probably benign	Het
Pgm3	A	G	9: 86,437,371 (GRCm39)	F501S	possibly damaging	Het
Ppp1r3c	A	G	19: 36,711,578 (GRCm39)	V64A	probably benign	Het
Ptpn6	A	T	6: 124,709,428 (GRCm39)	I15N	probably damaging	Het
Pxk	T	C	14: 8,136,923 (GRCm38)	V148A	possibly damaging	Het
Rngtt	T	A	4: 33,325,157 (GRCm39)		probably benign	Het
Rtkn2	T	G	10: 67,871,705 (GRCm39)	S364R	probably benign	Het
Rtn1	A	C	12: 72,266,074 (GRCm39)	L167R	probably damaging	Het
Sp2	G	A	11: 96,851,868 (GRCm39)	T352I	probably damaging	Het
Tbc1d17	A	G	7: 44,492,113 (GRCm39)	M459T	possibly damaging	Het
Tbcd	T	A	11: 121,481,206 (GRCm39)	M694K	possibly damaging	Het
Tln2	G	A	9: 67,157,896 (GRCm39)	R1148*	probably null	Het
Trim27	T	C	13: 21,376,662 (GRCm39)	V294A	probably damaging	Het
Tspyl5	G	T	15: 33,687,858 (GRCm39)	A29E	unknown	Het
Vmn2r129	C	T	4: 156,690,549 (GRCm39)		noncoding transcript	Het
Vrk2	C	T	11: 26,485,560 (GRCm39)	V143I	possibly damaging	Het
Zfp952	G	A	17: 33,221,791 (GRCm39)	R52Q	probably benign	Het
Zfp979	A	T	4: 147,699,774 (GRCm39)	D55E	probably benign	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
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
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

2014-05-07