Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02095:Exoc3'

279571

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Exoc3

Ensembl Gene

ENSMUSG00000034152

Gene Name

exocyst complex component 3

Synonyms

Sec6l1, 2810050O03Rik, E430013E20Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.962) question?

Stock #

IGL02095

Quality Score

Status

Chromosome

Chromosomal Location

74317607-74356851 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 74328655 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 569 (T569A)

Ref Sequence

ENSEMBL: ENSMUSP00000039416 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035934]

AlphaFold

Q6KAR6

Predicted Effect

probably damaging
Transcript: ENSMUST00000035934
AA Change: T569A

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

SMART Domains

Protein: ENSMUSP00000039416
Gene: ENSMUSG00000034152
AA Change: T569A

Domain	Start	End	E-Value	Type
Pfam:Sec6	187	743	1.7e-162	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220679

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a component of the exocyst complex, a multiple protein complex essential for targeting exocytic vesicles to specific docking sites on the plasma membrane. Though best characterized in yeast, the component proteins and functions of exocyst complex have been demonstrated to be highly conserved in higher eukaryotes. At least eight components of the exocyst complex, including this protein, are found to interact with the actin cytoskeletal remodeling and vesicle transport machinery. The complex is also essential for the biogenesis of epithelial cell surface polarity. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	T	A	14: 32,383,583 (GRCm39)	Q794L	probably benign	Het
Acrbp	C	A	6: 125,030,919 (GRCm39)	Y313*	probably null	Het
Adam9	A	G	8: 25,486,745 (GRCm39)	S178P	probably benign	Het
Adgrv1	T	C	13: 81,727,909 (GRCm39)	I244V	possibly damaging	Het
Atad5	A	G	11: 79,985,533 (GRCm39)	S207G	probably benign	Het
Atp10a	A	G	7: 58,457,141 (GRCm39)	D880G	probably damaging	Het
Cadps2	A	G	6: 23,427,309 (GRCm39)	I573T	probably benign	Het
Camsap3	A	G	8: 3,653,845 (GRCm39)	D494G	probably damaging	Het
Cbfa2t3	T	C	8: 123,360,232 (GRCm39)	E438G	probably damaging	Het
Cisd2	T	C	3: 135,116,980 (GRCm39)	D37G	possibly damaging	Het
Cndp2	T	C	18: 84,699,157 (GRCm39)	E36G	possibly damaging	Het
Ddx54	G	A	5: 120,761,856 (GRCm39)	G544D	possibly damaging	Het
Dok2	G	T	14: 71,015,301 (GRCm39)	G343W	possibly damaging	Het
Dscaml1	A	G	9: 45,359,001 (GRCm39)	N87D	probably damaging	Het
Ehf	T	C	2: 103,097,336 (GRCm39)	Y237C	probably damaging	Het
Fam151a	T	C	4: 106,605,072 (GRCm39)	V478A	probably damaging	Het
Fam227b	T	A	2: 125,942,924 (GRCm39)	H291L	probably damaging	Het
Fmn2	A	G	1: 174,330,167 (GRCm39)	T186A	unknown	Het
Ggnbp2	T	C	11: 84,723,954 (GRCm39)	Y660C	probably damaging	Het
Ggt5	G	A	10: 75,444,637 (GRCm39)	M318I	probably benign	Het
Gprc5d	A	G	6: 135,093,175 (GRCm39)	I244T	probably damaging	Het
Gucy2e	A	G	11: 69,123,613 (GRCm39)	S429P	possibly damaging	Het
Igf2r	T	C	17: 12,920,892 (GRCm39)	D1341G	probably damaging	Het
Kcnq4	T	C	4: 120,557,224 (GRCm39)		probably benign	Het
Krt40	T	C	11: 99,432,497 (GRCm39)	D173G	probably damaging	Het
Lrrc27	C	T	7: 138,810,169 (GRCm39)	T380I	probably benign	Het
Lrrc4c	A	G	2: 97,459,749 (GRCm39)	N125S	probably benign	Het
Mtor	C	T	4: 148,628,998 (GRCm39)	R2217C	probably damaging	Het
Nfrkb	C	T	9: 31,322,527 (GRCm39)	R866W	probably damaging	Het
Or10s1	T	A	9: 39,985,967 (GRCm39)	Y125*	probably null	Het
Or4d10b	C	A	19: 12,036,913 (GRCm39)	V68F	probably benign	Het
P2ry6	T	A	7: 100,588,071 (GRCm39)	D96V	probably damaging	Het
Pcdh18	A	T	3: 49,710,605 (GRCm39)	S237T	probably benign	Het
Pck2	G	A	14: 55,779,967 (GRCm39)	R72Q	probably benign	Het
Pik3c2a	C	T	7: 115,945,423 (GRCm39)	R1461Q	probably damaging	Het
Polr3a	A	G	14: 24,504,678 (GRCm39)	V1130A	possibly damaging	Het
Ppm1d	T	A	11: 85,217,832 (GRCm39)	D198E	probably benign	Het
Rasa1	T	A	13: 85,364,274 (GRCm39)	E1022D	probably benign	Het
Rbm25	T	C	12: 83,718,748 (GRCm39)	Y507H	probably damaging	Het
Rbm26	A	T	14: 105,381,696 (GRCm39)	I488K	probably damaging	Het
Ryr2	T	A	13: 11,774,645 (GRCm39)	E1170D	probably damaging	Het
Sdk2	T	G	11: 113,725,656 (GRCm39)	T1198P	probably damaging	Het
Sema3g	C	T	14: 30,949,781 (GRCm39)	T654I	probably benign	Het
Spag9	A	T	11: 93,999,408 (GRCm39)	H1108L	probably damaging	Het
Trgc2	T	A	13: 19,491,580 (GRCm39)		probably benign	Het
Ubap2	T	C	4: 41,229,709 (GRCm39)	N142S	probably benign	Het
Usp33	T	C	3: 152,087,431 (GRCm39)	F699L	possibly damaging	Het
Ythdc2	A	G	18: 45,006,207 (GRCm39)		probably benign	Het

Other mutations in Exoc3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00695:Exoc3	APN	13	74,355,025 (GRCm39)	critical splice donor site	probably null
IGL01444:Exoc3	APN	13	74,355,054 (GRCm39)	missense	probably damaging	1.00
IGL02370:Exoc3	APN	13	74,340,880 (GRCm39)	missense	probably benign	0.02
IGL02704:Exoc3	APN	13	74,322,263 (GRCm39)	missense	probably benign	0.00
IGL03113:Exoc3	APN	13	74,341,232 (GRCm39)	nonsense	probably null
R0037:Exoc3	UTSW	13	74,347,658 (GRCm39)	missense	probably damaging	0.99
R0565:Exoc3	UTSW	13	74,330,394 (GRCm39)	critical splice donor site	probably null
R1282:Exoc3	UTSW	13	74,330,411 (GRCm39)	missense	probably benign	0.30
R1438:Exoc3	UTSW	13	74,338,298 (GRCm39)	missense	probably damaging	1.00
R1694:Exoc3	UTSW	13	74,338,184 (GRCm39)	splice site	probably null
R1913:Exoc3	UTSW	13	74,330,435 (GRCm39)	missense	probably damaging	1.00
R1915:Exoc3	UTSW	13	74,321,413 (GRCm39)	critical splice donor site	probably null
R2039:Exoc3	UTSW	13	74,341,096 (GRCm39)	missense	probably benign
R4272:Exoc3	UTSW	13	74,340,763 (GRCm39)	missense	probably damaging	1.00
R4852:Exoc3	UTSW	13	74,347,764 (GRCm39)	missense	probably damaging	1.00
R5698:Exoc3	UTSW	13	74,322,134 (GRCm39)	missense	probably benign	0.13
R5909:Exoc3	UTSW	13	74,347,643 (GRCm39)	missense	probably damaging	0.98
R5969:Exoc3	UTSW	13	74,320,305 (GRCm39)	nonsense	probably null
R6248:Exoc3	UTSW	13	74,330,400 (GRCm39)	missense	probably benign	0.40
R6433:Exoc3	UTSW	13	74,337,306 (GRCm39)	missense	possibly damaging	0.93
R6599:Exoc3	UTSW	13	74,337,277 (GRCm39)	splice site	probably null
R6861:Exoc3	UTSW	13	74,337,319 (GRCm39)	missense	probably benign
R7000:Exoc3	UTSW	13	74,330,285 (GRCm39)	missense	probably benign	0.41
R7384:Exoc3	UTSW	13	74,320,275 (GRCm39)	missense	probably benign	0.00
R8098:Exoc3	UTSW	13	74,320,271 (GRCm39)	missense	probably benign
R8146:Exoc3	UTSW	13	74,340,784 (GRCm39)	missense	probably benign	0.00
R9548:Exoc3	UTSW	13	74,330,285 (GRCm39)	missense	possibly damaging	0.66
R9712:Exoc3	UTSW	13	74,341,027 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16