Mutagenetix > Incidental Mutation

Incidental Mutation 'R9717:Exoc1'

730521

Institutional Source

Beutler Lab

Gene Symbol

Exoc1

Ensembl Gene

ENSMUSG00000036435

Gene Name

exocyst complex component 1

Synonyms

2810407P21Rik, Sec3p, SEC3, A730011E05Rik, Sec3l1

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9717 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

76529311-76570294 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 76563232 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 659 (S659R)

Ref Sequence

ENSEMBL: ENSMUSP00000109121 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049469] [ENSMUST00000087133] [ENSMUST00000113493] [ENSMUST00000134521]

AlphaFold

Q8R3S6

Predicted Effect

probably benign
Transcript: ENSMUST00000049469
AA Change: S637R

PolyPhen 2 Score 0.065 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000046719
Gene: ENSMUSG00000036435
AA Change: S637R

Domain	Start	End	E-Value	Type
Sec3-PIP2_bind	31	122	9.51e-41	SMART
Pfam:Sec3_C	169	856	5.5e-221	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000087133
AA Change: S652R

PolyPhen 2 Score 0.115 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000084373
Gene: ENSMUSG00000036435
AA Change: S652R

Domain	Start	End	E-Value	Type
Sec3-PIP2_bind	31	122	9.51e-41	SMART
Pfam:Sec3_C	169	871	2e-220	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000113493
AA Change: S659R

PolyPhen 2 Score 0.217 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000109121
Gene: ENSMUSG00000036435
AA Change: S659R

Domain	Start	End	E-Value	Type
Sec3-PIP2_bind	31	122	9.51e-41	SMART
coiled coil region	161	183	N/A	INTRINSIC
Pfam:Sec3_C	190	878	4.1e-186	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000134521
AA Change: S50R

PolyPhen 2 Score 0.390 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000121784
Gene: ENSMUSG00000036435
AA Change: S50R

Domain	Start	End	E-Value	Type
Pfam:Sec3_C	1	111	1.7e-35	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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 the 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. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit complete embryonic lethality before implantation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	T	A	13: 81,520,781	N2552I	probably damaging	Het
Amph	G	T	13: 19,125,083	A444S	probably benign	Het
Ankrd52	A	G	10: 128,380,588	N157S	probably benign	Het
Arhgap29	T	C	3: 122,004,271	F537L	probably benign	Het
Asic1	A	C	15: 99,692,776	T136P	probably damaging	Het
Atg2b	T	C	12: 105,639,302	Y1468C	probably benign	Het
Atm	A	G	9: 53,516,517	L431P	probably damaging	Het
Btaf1	A	G	19: 36,945,246	T17A	probably benign	Het
Car10	A	G	11: 93,304,541	N58S	probably benign	Het
Cd79b	A	T	11: 106,312,019	D252E	probably damaging	Het
Cdipt	C	T	7: 126,977,030		probably benign	Het
Cebpe	T	C	14: 54,711,708	D84G	probably damaging	Het
Cenpj	T	C	14: 56,552,996	E532G	probably benign	Het
Cherp	A	G	8: 72,463,076		probably null	Het
Chuk	T	C	19: 44,082,670	D532G	possibly damaging	Het
Clec1b	C	T	6: 129,397,640	T9I	probably benign	Het
Clspn	G	T	4: 126,564,963	A280S	possibly damaging	Het
Cts3	T	G	13: 61,564,985	Y307S	probably benign	Het
Cyp2c39	T	C	19: 39,568,049	M443T	possibly damaging	Het
Dhx57	C	T	17: 80,275,018	R386H	probably damaging	Het
Dhx58	A	T	11: 100,701,307	M305K	probably benign	Het
Dlgap3	T	C	4: 127,235,494	L894P	probably damaging	Het
Dnah3	A	T	7: 119,975,076	N2164K	probably damaging	Het
Dnajb14	A	G	3: 137,902,283	N183S	probably benign	Het
Drd5	G	T	5: 38,320,747	R361L	probably damaging	Het
Duoxa1	T	C	2: 122,305,141	E159G	probably damaging	Het
Fam214b	T	C	4: 43,036,050	H227R	probably damaging	Het
Fbln7	T	C	2: 128,877,394	I37T	probably benign	Het
Fcgrt	T	G	7: 45,095,429	E205A	possibly damaging	Het
Fcho2	A	T	13: 98,763,694	S304T	probably damaging	Het
Gbp9	C	A	5: 105,105,721	G43*	probably null	Het
Gm21671	T	C	5: 25,949,831	E257G	probably damaging	Het
Gucy2d	A	G	7: 98,474,661	K151R	probably benign	Het
Heatr4	T	A	12: 83,978,055	I331F	probably damaging	Het
Hmcn1	G	A	1: 150,609,627	T4408I	probably damaging	Het
Hoxc9	C	T	15: 102,982,119	T156M	probably benign	Het
Hrnr	A	T	3: 93,320,680	E35V	probably damaging	Het
Idua	C	T	5: 108,670,171	Q70*	probably null	Het
Klf5	A	T	14: 99,301,753	I201F	probably damaging	Het
Lonrf1	T	C	8: 36,234,010	K349E	probably damaging	Het
Lrp1b	A	T	2: 41,268,383	D1721E		Het
Mdh1	T	A	11: 21,571,870		probably benign	Het
Mllt11	T	C	3: 95,220,210	H83R	probably benign	Het
Mrgprb4	A	C	7: 48,198,835	I115S	possibly damaging	Het
Mrpl38	A	G	11: 116,132,470	F319S	probably damaging	Het
Naif1	A	T	2: 32,454,895	M204L	probably benign	Het
Ncan	T	A	8: 70,101,978	D1063V	probably damaging	Het
Noto	A	T	6: 85,424,345	R119W	possibly damaging	Het
Olfr1220	G	A	2: 89,097,229	L233F	probably benign	Het
Olfr147	A	T	9: 38,403,545	I224F	probably damaging	Het
Olfr573-ps1	A	T	7: 102,941,958	D206E	probably damaging	Het
Olfr816	T	A	10: 129,912,179	Y33F	probably damaging	Het
Ovch2	A	G	7: 107,794,377	W181R	probably damaging	Het
Palm	G	C	10: 79,819,283	G292R	probably damaging	Het
Pdgfrb	T	A	18: 61,072,715	L591*	probably null	Het
Pik3c2g	T	C	6: 139,896,184	S772P		Het
Prx	C	A	7: 27,517,986	D776E	probably benign	Het
Ptpra	A	G	2: 130,542,446	E562G	possibly damaging	Het
Rbm4b	A	G	19: 4,757,331	Y25C	probably damaging	Het
Reln	T	C	5: 21,931,429	T2534A	probably benign	Het
Rnf123	T	C	9: 108,077,764	S14G	probably benign	Het
Rock2	A	G	12: 16,965,601	H833R	probably benign	Het
Rxfp3	A	G	15: 11,037,025	V87A	possibly damaging	Het
S100b	G	A	10: 76,257,102	G23D	probably damaging	Het
Scn9a	T	A	2: 66,526,658	M1100L	probably benign	Het
Sept11	T	A	5: 93,148,407	S55T	possibly damaging	Het
Sv2b	T	A	7: 75,119,928	Q622L	probably benign	Het
Taar7a	T	C	10: 23,992,901	D194G	probably benign	Het
Trappc3	T	C	4: 126,275,221	I168T	probably benign	Het
Trim27	T	C	13: 21,190,126		probably null	Het
Wdr49	G	A	3: 75,397,052	T109I	probably benign	Het
Wdr64	T	C	1: 175,717,288	Y96H	probably damaging	Het
Zfp219	A	T	14: 52,009,592	L26Q	probably damaging	Het
Zfp758	T	A	17: 22,374,848	V105D	possibly damaging	Het
Zfp975	C	G	7: 42,662,908	E94Q	possibly damaging	Het
Zfyve9	C	T	4: 108,682,137	A289T	probably benign	Het
Zscan5b	T	C	7: 6,231,526	S184P	possibly damaging	Het

Other mutations in Exoc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00679:Exoc1	APN	5	76567023	missense	possibly damaging	0.88
IGL01149:Exoc1	APN	5	76542244	splice site	probably benign
IGL02061:Exoc1	APN	5	76542120	missense	probably damaging	0.96
IGL02288:Exoc1	APN	5	76545313	missense	probably benign
IGL02407:Exoc1	APN	5	76545346	missense	probably damaging	0.97
IGL03089:Exoc1	APN	5	76542158	missense	possibly damaging	0.81
IGL03242:Exoc1	APN	5	76559007	missense	probably damaging	1.00
IGL03348:Exoc1	APN	5	76535593	missense	probably damaging	1.00
IGL03411:Exoc1	APN	5	76542195	missense	probably damaging	1.00
Smalls	UTSW	5	76537779	missense	probably damaging	1.00
R0462:Exoc1	UTSW	5	76543617	missense	probably benign	0.37
R1216:Exoc1	UTSW	5	76554188	missense	probably benign
R1528:Exoc1	UTSW	5	76549564	missense	possibly damaging	0.94
R1531:Exoc1	UTSW	5	76559164	missense	probably damaging	0.98
R1636:Exoc1	UTSW	5	76568118	missense	probably benign	0.03
R1754:Exoc1	UTSW	5	76560322	splice site	probably null
R1803:Exoc1	UTSW	5	76561441	missense	probably benign	0.18
R2086:Exoc1	UTSW	5	76532846	nonsense	probably null
R2239:Exoc1	UTSW	5	76559710	unclassified	probably benign
R3914:Exoc1	UTSW	5	76543561	missense	possibly damaging	0.54
R4022:Exoc1	UTSW	5	76549570	missense	possibly damaging	0.92
R4329:Exoc1	UTSW	5	76567975	missense	probably damaging	1.00
R4413:Exoc1	UTSW	5	76542019	intron	probably benign
R4427:Exoc1	UTSW	5	76563263	missense	probably benign	0.00
R4557:Exoc1	UTSW	5	76561443	missense	probably damaging	1.00
R4627:Exoc1	UTSW	5	76542228	missense	probably benign	0.26
R4677:Exoc1	UTSW	5	76559163	missense	probably null	0.82
R5138:Exoc1	UTSW	5	76568075	missense	probably damaging	1.00
R5325:Exoc1	UTSW	5	76537702	missense	probably benign
R5342:Exoc1	UTSW	5	76567014	missense	probably damaging	1.00
R5736:Exoc1	UTSW	5	76537768	missense	possibly damaging	0.90
R5891:Exoc1	UTSW	5	76542144	missense	probably damaging	1.00
R6102:Exoc1	UTSW	5	76537779	missense	probably damaging	1.00
R6447:Exoc1	UTSW	5	76543517	missense	probably damaging	0.97
R6532:Exoc1	UTSW	5	76537837	missense	probably damaging	0.99
R6694:Exoc1	UTSW	5	76549552	missense	probably damaging	1.00
R6753:Exoc1	UTSW	5	76563339	missense	probably damaging	1.00
R6885:Exoc1	UTSW	5	76559042	missense	probably damaging	1.00
R7090:Exoc1	UTSW	5	76566953	missense	unknown
R7299:Exoc1	UTSW	5	76542159	missense	probably damaging	1.00
R7439:Exoc1	UTSW	5	76545348	missense	probably benign	0.18
R7567:Exoc1	UTSW	5	76537715	missense	probably damaging	0.96
R7665:Exoc1	UTSW	5	76543573	missense	probably benign	0.33
R7745:Exoc1	UTSW	5	76561512	nonsense	probably null
R7883:Exoc1	UTSW	5	76561382	missense	probably damaging	0.99
R7918:Exoc1	UTSW	5	76543993	missense	probably benign	0.10
R7956:Exoc1	UTSW	5	76557857	missense	probably benign	0.01
R7977:Exoc1	UTSW	5	76543585	missense	probably damaging	1.00
R7987:Exoc1	UTSW	5	76543585	missense	probably damaging	1.00
R8191:Exoc1	UTSW	5	76559827	critical splice donor site	probably null
R8286:Exoc1	UTSW	5	76563240	missense	probably benign	0.00
R8670:Exoc1	UTSW	5	76569658	missense	probably damaging	1.00
R8791:Exoc1	UTSW	5	76535565	missense	probably damaging	1.00
R9308:Exoc1	UTSW	5	76559121	missense	probably benign	0.10
R9410:Exoc1	UTSW	5	76559142	missense	probably benign	0.21
X0018:Exoc1	UTSW	5	76567035	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- AAATACACCAGCGTTTGTGC -3'
(R):5'- CTGCAGTTACCCAGGAACAATG -3'

Sequencing Primer
(F):5'- CTGCAGAGGACTGGTTCTCTC -3'
(R):5'- TCACCATTAATGAACACTCCTCTG -3'

Posted On

2022-10-06