Mutagenetix > Incidental Mutation

Incidental Mutation 'R6433:Exoc3'

518660

Institutional Source

Beutler Lab

Gene Symbol

Exoc3

Ensembl Gene

ENSMUSG00000034152

Gene Name

exocyst complex component 3

Synonyms

Sec6l1, 2810050O03Rik, E430013E20Rik

MMRRC Submission

044571-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.962) question?

Stock #

R6433 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

74317607-74356851 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 74337306 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 432 (T432A)

Ref Sequence

ENSEMBL: ENSMUSP00000039416 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035934] [ENSMUST00000222213]

AlphaFold

Q6KAR6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000035934
AA Change: T432A

PolyPhen 2 Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000039416
Gene: ENSMUSG00000034152
AA Change: T432A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000222213

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.6%

Validation Efficiency

100% (56/56)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afdn	T	A	17: 14,101,561 (GRCm39)	D1016E	probably damaging	Het
Aplnr	A	T	2: 84,967,017 (GRCm39)	Q14L	probably benign	Het
Aspm	T	C	1: 139,401,421 (GRCm39)	L1147S	probably damaging	Het
Atad2b	A	G	12: 5,002,642 (GRCm39)	T337A	possibly damaging	Het
Atrn	A	G	2: 130,864,947 (GRCm39)	E1358G	probably damaging	Het
Caml	C	A	13: 55,771,062 (GRCm39)	S53R	possibly damaging	Het
Cd180	T	G	13: 102,842,141 (GRCm39)	S396A	probably benign	Het
Cdhr2	A	G	13: 54,866,325 (GRCm39)	T344A	probably damaging	Het
Cyp4a31	A	C	4: 115,427,466 (GRCm39)	D224A	probably damaging	Het
Dhx36	T	C	3: 62,392,395 (GRCm39)	T544A	probably damaging	Het
Dnah14	A	G	1: 181,479,222 (GRCm39)	K1528E	probably damaging	Het
Dnpep	T	A	1: 75,292,022 (GRCm39)	K199N	probably benign	Het
Dsc2	C	T	18: 20,184,232 (GRCm39)		probably null	Het
Efl1	T	A	7: 82,323,776 (GRCm39)	D239E	probably damaging	Het
Elovl4	A	G	9: 83,667,231 (GRCm39)	V42A	possibly damaging	Het
Fam98c	A	G	7: 28,855,553 (GRCm39)		probably null	Het
Fbln2	G	A	6: 91,210,254 (GRCm39)	G66D	probably damaging	Het
Fchsd1	G	A	18: 38,097,137 (GRCm39)	T410I	possibly damaging	Het
Flcn	T	C	11: 59,691,908 (GRCm39)	D247G	probably damaging	Het
Galnt16	T	C	12: 80,622,677 (GRCm39)	V127A	probably benign	Het
H2-Ob	A	T	17: 34,462,860 (GRCm39)		probably null	Het
Has2	G	A	15: 56,531,194 (GRCm39)	S507F	possibly damaging	Het
Ido2	T	A	8: 25,023,939 (GRCm39)	M300L	probably damaging	Het
Itga10	T	C	3: 96,565,357 (GRCm39)		probably null	Het
Klra9	G	T	6: 130,155,995 (GRCm39)	Y253*	probably null	Het
Mfsd2a	A	G	4: 122,844,250 (GRCm39)	V299A	probably benign	Het
Mybpc1	T	C	10: 88,396,217 (GRCm39)	D210G	probably damaging	Het
Ndrg1	A	T	15: 66,805,721 (GRCm39)	M128K	probably damaging	Het
Obscn	T	A	11: 58,942,384 (GRCm39)	T5091S	probably benign	Het
Or2j3	A	G	17: 38,616,304 (GRCm39)	L16P	probably damaging	Het
Pex5	A	T	6: 124,390,572 (GRCm39)	M91K	possibly damaging	Het
Phlpp2	G	T	8: 110,661,317 (GRCm39)	A810S	probably benign	Het
Pla2g7	G	C	17: 43,910,017 (GRCm39)	A174P	probably damaging	Het
Plxna4	C	T	6: 32,192,613 (GRCm39)	V783M	probably damaging	Het
Poll	A	T	19: 45,542,043 (GRCm39)	M421K	probably benign	Het
Ppfia2	C	A	10: 106,749,559 (GRCm39)	S1148R	possibly damaging	Het
Prkg1	A	G	19: 30,758,746 (GRCm39)	F280S	probably benign	Het
Rdh10	G	A	1: 16,178,079 (GRCm39)	C117Y	probably damaging	Het
Rtl1	C	A	12: 109,561,630 (GRCm39)	A70S	unknown	Het
Scgb2b3	A	T	7: 31,058,492 (GRCm39)	L104I	probably benign	Het
Sh3tc1	T	C	5: 35,863,941 (GRCm39)	R749G	probably damaging	Het
Skint4	A	G	4: 112,003,707 (GRCm39)	K380R	probably benign	Het
Smtnl1	A	C	2: 84,648,712 (GRCm39)	S181A	probably benign	Het
Spata31d1b	T	C	13: 59,864,999 (GRCm39)	S716P	probably damaging	Het
Spc25	A	G	2: 69,036,446 (GRCm39)		probably benign	Het
Stab2	C	T	10: 86,737,431 (GRCm39)		probably null	Het
Timm22	T	C	11: 76,300,570 (GRCm39)	V114A	possibly damaging	Het
Timp4	A	G	6: 115,224,181 (GRCm39)	C163R	probably damaging	Het
Toporsl	T	A	4: 52,611,548 (GRCm39)	N480K	possibly damaging	Het
Tpo	T	C	12: 30,134,753 (GRCm39)	E735G	probably benign	Het
Trpm3	A	G	19: 22,878,669 (GRCm39)	D692G	probably damaging	Het
Ttn	T	C	2: 76,582,058 (GRCm39)	H22945R	probably damaging	Het
Vmn2r6	A	T	3: 64,454,801 (GRCm39)	Y499*	probably null	Het
Vwa1	G	A	4: 155,857,226 (GRCm39)	H191Y	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
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
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
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'- TTTAGCTCCAGAAAGCAGAGAC -3'
(R):5'- GCTCTGTGTTTGGAAGCAAG -3'

Sequencing Primer
(F):5'- CTCCAGAAAGCAGAGACAGGGATATC -3'
(R):5'- AAAAGCTGTATCTGGTCTGTGCAG -3'

Posted On

2018-05-24