Mutagenetix > Incidental Mutation

Incidental Mutation 'R5969:Exoc3'

470759

Institutional Source

Beutler Lab

Gene Symbol

Exoc3

Ensembl Gene

ENSMUSG00000034152

Gene Name

exocyst complex component 3

Synonyms

Sec6l1, 2810050O03Rik, E430013E20Rik

MMRRC Submission

044152-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.962) question?

Stock #

R5969 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

74317607-74356851 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 74320305 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 719 (Q719*)

Ref Sequence

ENSEMBL: ENSMUSP00000039416 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035934] [ENSMUST00000221703]

AlphaFold

Q6KAR6

Predicted Effect

probably null
Transcript: ENSMUST00000035934
AA Change: Q719*

SMART Domains

Protein: ENSMUSP00000039416
Gene: ENSMUSG00000034152
AA Change: Q719*

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220679

Predicted Effect

probably benign
Transcript: ENSMUST00000221703

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222248

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.2%

Validation Efficiency

99% (67/68)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aaas	A	C	15: 102,258,999 (GRCm39)	Y19D	probably damaging	Het
Abca13	T	A	11: 9,242,214 (GRCm39)	L1359*	probably null	Het
Ahi1	A	T	10: 20,860,292 (GRCm39)	D671V	probably damaging	Het
Ahnak	T	C	19: 8,993,949 (GRCm39)	S5078P	probably damaging	Het
Ankhd1	A	T	18: 36,733,887 (GRCm39)	T584S	probably damaging	Het
Apba2	T	A	7: 64,394,195 (GRCm39)	L568*	probably null	Het
Cenpn	C	A	8: 117,667,276 (GRCm39)	L300I	probably damaging	Het
Cmya5	A	T	13: 93,226,052 (GRCm39)	L3012Q	possibly damaging	Het
Cnnm1	T	C	19: 43,479,911 (GRCm39)	S819P	probably damaging	Het
Cpa6	A	T	1: 10,559,108 (GRCm39)	S87T	probably benign	Het
Crybg2	T	A	4: 133,803,003 (GRCm39)		probably null	Het
Csmd1	T	A	8: 16,121,367 (GRCm39)	T1777S	probably benign	Het
Csmd3	G	T	15: 47,811,386 (GRCm39)	P1235Q	probably damaging	Het
Cxcr4	T	A	1: 128,517,584 (GRCm39)	N24Y	probably benign	Het
D630003M21Rik	G	T	2: 158,059,628 (GRCm39)	H91N	probably damaging	Het
Ece1	T	C	4: 137,689,051 (GRCm39)		probably null	Het
Edc3	T	C	9: 57,620,711 (GRCm39)	S11P	probably damaging	Het
Eif1ad14	T	C	12: 87,886,248 (GRCm39)	D127G	unknown	Het
Fam13a	A	G	6: 58,942,183 (GRCm39)	M203T	probably damaging	Het
Fchsd1	C	T	18: 38,092,926 (GRCm39)		probably benign	Het
Fhip2a	C	T	19: 57,372,555 (GRCm39)	R602*	probably null	Het
Fxyd2	T	A	9: 45,319,628 (GRCm39)	I30N	probably damaging	Het
Gapt	A	G	13: 110,490,480 (GRCm39)	V61A	probably benign	Het
Glb1l2	C	T	9: 26,692,038 (GRCm39)	A74T	probably damaging	Het
Gpr35	T	C	1: 92,910,942 (GRCm39)	V2A	probably damaging	Het
Gtf3c1	A	G	7: 125,244,848 (GRCm39)	S1729P	possibly damaging	Het
Heatr5a	T	C	12: 52,005,823 (GRCm39)	T51A	probably benign	Het
Kat6b	G	A	14: 21,720,860 (GRCm39)	M1737I	probably damaging	Het
Kif20a	G	A	18: 34,765,468 (GRCm39)	A822T	probably benign	Het
Klk10	A	G	7: 43,434,409 (GRCm39)	Y267C	probably damaging	Het
Lgmn	T	C	12: 102,372,086 (GRCm39)	Y98C	probably damaging	Het
Lyst	A	C	13: 13,862,398 (GRCm39)		probably null	Het
Man2a1	A	G	17: 64,932,375 (GRCm39)	K154R	probably benign	Het
Mfng	A	T	15: 78,648,582 (GRCm39)	V165D	possibly damaging	Het
Mto1	A	G	9: 78,360,187 (GRCm39)	E225G	probably damaging	Het
Notch3	C	A	17: 32,372,858 (GRCm39)	C571F	probably damaging	Het
Nup205	C	T	6: 35,154,513 (GRCm39)		probably benign	Het
Or51b6	T	A	7: 103,556,117 (GRCm39)	I157N	probably damaging	Het
P2ry14	T	A	3: 59,022,579 (GRCm39)	I303F	probably damaging	Het
Pcnx3	T	C	19: 5,735,563 (GRCm39)	D421G	probably damaging	Het
Pdlim4	T	C	11: 53,954,482 (GRCm39)	H75R	possibly damaging	Het
Phf21a	A	T	2: 92,051,956 (GRCm39)	H17L	probably damaging	Het
Ppid	T	A	3: 79,505,024 (GRCm39)	N122K	probably damaging	Het
Ppp4r3a	T	C	12: 101,009,838 (GRCm39)	I613V	probably benign	Het
Prcp	C	T	7: 92,566,974 (GRCm39)	P229S	probably benign	Het
Ralgds	T	C	2: 28,432,426 (GRCm39)	V85A	probably damaging	Het
Rgs22	G	A	15: 36,015,782 (GRCm39)	T1034I	probably benign	Het
Slc4a3	T	C	1: 75,526,623 (GRCm39)	V48A	probably damaging	Het
Snx16	A	T	3: 10,503,217 (GRCm39)	M10K	possibly damaging	Het
Svep1	G	A	4: 58,070,977 (GRCm39)	Q2270*	probably null	Het
Tmem185b	T	G	1: 119,455,193 (GRCm39)	I318S	probably benign	Het
Tnik	C	T	3: 28,675,097 (GRCm39)	R657C	probably damaging	Het
Top3b	T	C	16: 16,701,429 (GRCm39)		probably null	Het
Trim40	C	T	17: 37,193,319 (GRCm39)	R203H	probably benign	Het
Triobp	T	A	15: 78,851,740 (GRCm39)	N631K	probably benign	Het
Ubr3	T	G	2: 69,809,730 (GRCm39)	Y1233*	probably null	Het
Vgll3	A	G	16: 65,636,449 (GRCm39)	D200G	probably damaging	Het
Vmn2r24	G	A	6: 123,755,981 (GRCm39)	E18K	probably benign	Het
Zfp141	C	A	7: 42,138,912 (GRCm39)	R40L	probably damaging	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
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'- AAGACAGGAACATGTAACTGACATC -3'
(R):5'- GTTGGTTACCTCTCTTCTGTAAAAG -3'

Sequencing Primer
(F):5'- GCACCTAGAGACGGACTTTTG -3'
(R):5'- AAGAAGAGATGTTCTTTGTAGCTCTG -3'

Posted On

2017-03-31