Mutagenetix > Incidental Mutation

Incidental Mutation 'R0565:Exoc3'

46149

Institutional Source

Beutler Lab

Gene Symbol

Exoc3

Ensembl Gene

ENSMUSG00000034152

Gene Name

exocyst complex component 3

Synonyms

Sec6l1, 2810050O03Rik, E430013E20Rik

MMRRC Submission

038756-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.960) question?

Stock #

R0565 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

74317607-74356851 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 74330394 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000039416 (fasta)

Gene Model

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

AlphaFold

Q6KAR6

Predicted Effect

probably null
Transcript: ENSMUST00000035934

SMART Domains

Protein: ENSMUSP00000039416
Gene: ENSMUSG00000034152

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

Predicted Effect

probably null
Transcript: ENSMUST00000035934

SMART Domains

Protein: ENSMUSP00000039416
Gene: ENSMUSG00000034152

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

Meta Mutation Damage Score

0.9500

Coding Region Coverage

1x: 99.6%
3x: 98.8%
10x: 96.8%
20x: 93.6%

Validation Efficiency

100% (73/73)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	A	T	16: 4,682,200 (GRCm39)	H1010L	probably benign	Het
A2ml1	C	A	6: 128,545,706 (GRCm39)	E474*	probably null	Het
Agtr1b	T	C	3: 20,369,838 (GRCm39)	H256R	probably damaging	Het
Amacr	C	T	15: 10,982,032 (GRCm39)	A46V	possibly damaging	Het
Atosb	A	T	4: 43,034,647 (GRCm39)		probably benign	Het
Cabp5	A	T	7: 13,135,260 (GRCm39)	M67L	probably damaging	Het
Caskin2	T	C	11: 115,691,842 (GRCm39)	E981G	probably damaging	Het
Ccdc88a	A	G	11: 29,411,042 (GRCm39)		probably benign	Het
Cd180	A	G	13: 102,839,382 (GRCm39)		probably benign	Het
Cd200l1	T	A	16: 45,264,536 (GRCm39)		probably benign	Het
Cemip	G	A	7: 83,613,318 (GRCm39)	H627Y	probably damaging	Het
Cep131	G	T	11: 119,964,588 (GRCm39)	H289Q	probably damaging	Het
Cep350	G	A	1: 155,836,941 (GRCm39)		probably benign	Het
Cfap52	A	T	11: 67,840,425 (GRCm39)	C169S	probably benign	Het
Cps1	A	T	1: 67,205,608 (GRCm39)	T544S	possibly damaging	Het
Cul7	T	C	17: 46,962,929 (GRCm39)	S187P	probably damaging	Het
Dhx40	C	A	11: 86,661,993 (GRCm39)	R688L	probably damaging	Het
E330034G19Rik	C	A	14: 24,356,985 (GRCm39)	Q174K	probably benign	Het
Efna5	T	C	17: 63,188,031 (GRCm39)	Y32C	probably damaging	Het
Ethe1	A	G	7: 24,307,314 (GRCm39)	H176R	probably benign	Het
Fam135b	T	A	15: 71,362,686 (GRCm39)	N232Y	possibly damaging	Het
Fndc9	C	T	11: 46,128,984 (GRCm39)	L168F	probably damaging	Het
Fpr-rs3	G	A	17: 20,844,283 (GRCm39)	A286V	probably damaging	Het
Immt	T	A	6: 71,823,467 (GRCm39)		probably benign	Het
Ipo7	T	C	7: 109,648,800 (GRCm39)		probably benign	Het
Ipo8	A	T	6: 148,688,221 (GRCm39)	L747H	probably damaging	Het
Ireb2	A	T	9: 54,807,267 (GRCm39)	N610Y	probably damaging	Het
Irs2	A	G	8: 11,054,592 (GRCm39)	V1280A	probably damaging	Het
Kcnj3	T	A	2: 55,485,276 (GRCm39)	M458K	probably benign	Het
Kl	A	G	5: 150,904,409 (GRCm39)	K387R	possibly damaging	Het
L3mbtl2	C	A	15: 81,568,487 (GRCm39)		probably benign	Het
Lamb1	A	C	12: 31,348,914 (GRCm39)	I649L	probably benign	Het
Lipm	A	C	19: 34,093,906 (GRCm39)	L274F	probably benign	Het
Lrfn3	A	G	7: 30,060,216 (GRCm39)	V3A	probably benign	Het
Lrrc8c	A	C	5: 105,754,894 (GRCm39)	D223A	probably damaging	Het
Ltn1	C	A	16: 87,212,898 (GRCm39)	K554N	probably benign	Het
Mertk	T	C	2: 128,613,403 (GRCm39)	I473T	probably benign	Het
Mfsd12	C	A	10: 81,197,243 (GRCm39)	N245K	probably benign	Het
Mmp16	A	G	4: 17,987,705 (GRCm39)	D89G	probably damaging	Het
Myo5a	T	A	9: 75,087,394 (GRCm39)	N1083K	probably benign	Het
Ncapd3	C	T	9: 26,999,294 (GRCm39)	A1290V	probably benign	Het
Nefm	A	G	14: 68,362,070 (GRCm39)	S65P	probably damaging	Het
Nt5c2	C	T	19: 46,886,064 (GRCm39)	R220H	probably damaging	Het
Or4c102	T	A	2: 88,422,353 (GRCm39)	D68E	probably benign	Het
Osbpl1a	A	T	18: 12,892,501 (GRCm39)	S438R	probably damaging	Het
Pcdhb5	T	C	18: 37,453,820 (GRCm39)	S67P	possibly damaging	Het
Per3	A	T	4: 151,118,409 (GRCm39)	I228N	probably damaging	Het
Pnpla7	T	G	2: 24,870,129 (GRCm39)		probably benign	Het
Ppp1r15b	G	T	1: 133,064,391 (GRCm39)		probably benign	Het
Psmd2	G	T	16: 20,479,176 (GRCm39)	L678F	probably null	Het
Ptch2	A	G	4: 116,963,340 (GRCm39)		probably benign	Het
Ranbp2	T	A	10: 58,312,158 (GRCm39)	D959E	probably benign	Het
Rph3al	C	T	11: 75,724,227 (GRCm39)		probably null	Het
Sec31b	T	A	19: 44,512,992 (GRCm39)	E499V	probably damaging	Het
Sel1l	T	C	12: 91,778,663 (GRCm39)	I667M	probably benign	Het
Sel1l	C	A	12: 91,780,719 (GRCm39)	V641L	possibly damaging	Het
Slc7a1	T	A	5: 148,288,879 (GRCm39)	I123F	probably damaging	Het
Smarca2	G	A	19: 26,659,275 (GRCm39)	R855Q	possibly damaging	Het
Sphk1	G	T	11: 116,427,184 (GRCm39)		probably benign	Het
Spink12	C	A	18: 44,237,755 (GRCm39)	S11*	probably null	Het
Sstr2	A	T	11: 113,516,445 (GRCm39)	I342F	probably benign	Het
Stxbp1	T	C	2: 32,709,860 (GRCm39)	T78A	probably benign	Het
Trim11	T	A	11: 58,881,410 (GRCm39)	S434R	probably damaging	Het
Ubr2	T	C	17: 47,266,812 (GRCm39)	E1113G	probably damaging	Het
Upb1	T	A	10: 75,264,188 (GRCm39)		probably benign	Het
Vit	T	A	17: 78,932,266 (GRCm39)	C458S	probably damaging	Het
Vmn1r58	T	C	7: 5,414,165 (GRCm39)	I22V	probably benign	Het
Vps25	T	C	11: 101,149,731 (GRCm39)		probably benign	Het
Wbp2	G	T	11: 115,973,211 (GRCm39)	D65E	possibly damaging	Het
Wdr72	A	G	9: 74,124,588 (GRCm39)	D980G	probably benign	Het
Xkr8	A	C	4: 132,458,228 (GRCm39)		probably null	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
IGL02095:Exoc3	APN	13	74,328,655 (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
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

Predicted Primers

PCR Primer
(F):5'- ATGCAAGGGAACATGGCAGCTCAC -3'
(R):5'- ACCTGGCACTGTAGACAGCTTTGG -3'

Sequencing Primer
(F):5'- CCTTAGCAATGGCGTCTAGAATC -3'
(R):5'- GGATTCCCCAATGTGATTTCAG -3'

Posted On

2013-06-11