Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02395:Efcab11'

294319

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Efcab11

Ensembl Gene

ENSMUSG00000021176

Gene Name

EF-hand calcium binding domain 11

Synonyms

2610110A13Rik, 2610021K21Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02395

Quality Score

Status

Chromosome

Chromosomal Location

99683790-99849701 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

C to A at 99820868 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000152734 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046485] [ENSMUST00000220875] [ENSMUST00000223114]

AlphaFold

Q9D0E5

Predicted Effect

probably null
Transcript: ENSMUST00000046485

SMART Domains

Protein: ENSMUSP00000044808
Gene: ENSMUSG00000021176

Domain	Start	End	E-Value	Type
EFh	22	50	4.67e-2	SMART
EFh	95	123	5.38e0	SMART
EFh	131	159	6.16e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000220875

Predicted Effect

probably null
Transcript: ENSMUST00000221929

Predicted Effect

probably null
Transcript: ENSMUST00000223114

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223298

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833420G17Rik	T	A	13: 119,617,496 (GRCm39)	C540S	probably damaging	Het
Cdk5	A	G	5: 24,624,635 (GRCm39)	V252A	possibly damaging	Het
Ddi2	C	T	4: 141,422,725 (GRCm39)	R329Q	possibly damaging	Het
Dennd2c	T	A	3: 103,065,081 (GRCm39)	F678I	probably benign	Het
Ect2	T	C	3: 27,204,255 (GRCm39)	D18G	probably damaging	Het
Eri2	T	C	7: 119,387,033 (GRCm39)	E162G	probably damaging	Het
Fam120b	T	C	17: 15,622,777 (GRCm39)	S252P	probably damaging	Het
Filip1	G	A	9: 79,805,692 (GRCm39)	P21S	probably benign	Het
Kmt5b	T	A	19: 3,864,887 (GRCm39)	D627E	probably benign	Het
Krt87	T	C	15: 101,385,833 (GRCm39)	D254G	probably benign	Het
Man1a2	T	C	3: 100,551,853 (GRCm39)		probably null	Het
Mapk15	T	C	15: 75,870,019 (GRCm39)	S380P	probably benign	Het
Mrpl48	G	T	7: 100,195,551 (GRCm39)		probably benign	Het
Nme8	T	A	13: 19,862,078 (GRCm39)	I184L	possibly damaging	Het
Nrk	A	G	X: 137,876,935 (GRCm39)	E712G	probably damaging	Het
Or4c110	T	A	2: 88,832,507 (GRCm39)	T42S	probably benign	Het
Or4k6	C	A	14: 50,475,886 (GRCm39)	G152V	probably damaging	Het
Or5m5	A	G	2: 85,814,426 (GRCm39)	T81A	possibly damaging	Het
Or6z6	C	T	7: 6,491,802 (GRCm39)	V17M	possibly damaging	Het
Plekho1	A	T	3: 95,902,876 (GRCm39)	Y36*	probably null	Het
Slco1a5	T	A	6: 142,221,213 (GRCm39)	H11L	probably damaging	Het
Tiam2	T	A	17: 3,471,756 (GRCm39)	M466K	possibly damaging	Het
Tmem214	G	A	5: 31,030,090 (GRCm39)	A296T	probably benign	Het
Tnfrsf22	A	T	7: 143,197,053 (GRCm39)	N95K	probably damaging	Het
Vmn1r90	T	C	7: 14,295,822 (GRCm39)	Y92C	probably damaging	Het
Zc2hc1a	T	A	3: 7,593,684 (GRCm39)	L214*	probably null	Het
Zcchc17	C	A	4: 130,230,920 (GRCm39)	V90F	probably damaging	Het
Zcchc7	T	C	4: 44,761,868 (GRCm39)		probably benign	Het
Zmiz1	T	C	14: 25,657,187 (GRCm39)	V821A	probably damaging	Het

Other mutations in Efcab11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02208:Efcab11	APN	12	99,820,861 (GRCm39)	splice site	probably benign
taxi	UTSW	12	99,849,674 (GRCm39)	utr 5 prime	probably benign
R0505:Efcab11	UTSW	12	99,685,294 (GRCm39)	missense	probably benign	0.13
R4915:Efcab11	UTSW	12	99,685,321 (GRCm39)	missense	probably damaging	1.00
R4917:Efcab11	UTSW	12	99,685,321 (GRCm39)	missense	probably damaging	1.00
R4918:Efcab11	UTSW	12	99,685,321 (GRCm39)	missense	probably damaging	1.00
R5418:Efcab11	UTSW	12	99,821,877 (GRCm39)	missense	possibly damaging	0.81
R6896:Efcab11	UTSW	12	99,849,674 (GRCm39)	utr 5 prime	probably benign
R7166:Efcab11	UTSW	12	99,849,614 (GRCm39)	missense
R7492:Efcab11	UTSW	12	99,844,660 (GRCm39)	missense	possibly damaging	0.68

Posted On

2015-04-16