Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00679:Exoc1'

12609

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Exoc1

Ensembl Gene

ENSMUSG00000036435

Gene Name

exocyst complex component 1

Synonyms

Sec3l1, A730011E05Rik, SEC3, Sec3p, 2810407P21Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL00679

Quality Score

Status

Chromosome

Chromosomal Location

76677158-76718141 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 76714870 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 742 (H742L)

Ref Sequence

ENSEMBL: ENSMUSP00000109121 (fasta)

Gene Model

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

AlphaFold

Q8R3S6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000049469
AA Change: H720L

PolyPhen 2 Score 0.802 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000046719
Gene: ENSMUSG00000036435
AA Change: H720L

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

possibly damaging
Transcript: ENSMUST00000087133
AA Change: H735L

PolyPhen 2 Score 0.883 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000084373
Gene: ENSMUSG00000036435
AA Change: H735L

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

possibly damaging
Transcript: ENSMUST00000113493
AA Change: H742L

PolyPhen 2 Score 0.883 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000109121
Gene: ENSMUSG00000036435
AA Change: H742L

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

noncoding transcript
Transcript: ENSMUST00000132807

Predicted Effect

probably benign
Transcript: ENSMUST00000134521

SMART Domains

Protein: ENSMUSP00000121784
Gene: ENSMUSG00000036435

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143489

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143736

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 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: 13 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap5	C	A	12: 52,564,064 (GRCm39)	A345D	probably damaging	Het
Ccdc73	C	T	2: 104,824,936 (GRCm39)	P990S	probably damaging	Het
Cep112	A	G	11: 108,481,879 (GRCm39)	K692R	probably damaging	Het
Cep57l1	A	T	10: 41,595,796 (GRCm39)	C319*	probably null	Het
Cfap276	A	G	3: 108,444,951 (GRCm39)	E6G	possibly damaging	Het
Cntnap5c	A	G	17: 58,362,673 (GRCm39)	D342G	probably damaging	Het
Faah	A	T	4: 115,865,480 (GRCm39)	L69Q	possibly damaging	Het
Fbxw21	G	A	9: 108,991,032 (GRCm39)	P9L	probably damaging	Het
Irak4	T	A	15: 94,454,509 (GRCm39)	M218K	probably benign	Het
Kdm2a	A	T	19: 4,376,869 (GRCm39)	C235S	probably damaging	Het
Rab4a	A	G	8: 124,554,153 (GRCm39)	D29G	probably damaging	Het
Slc22a8	A	G	19: 8,582,219 (GRCm39)	I133M	possibly damaging	Het
Wipi2	A	G	5: 142,644,904 (GRCm39)	D170G	probably damaging	Het

Other mutations in Exoc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01149:Exoc1	APN	5	76,690,091 (GRCm39)	splice site	probably benign
IGL02061:Exoc1	APN	5	76,689,967 (GRCm39)	missense	probably damaging	0.96
IGL02288:Exoc1	APN	5	76,693,160 (GRCm39)	missense	probably benign
IGL02407:Exoc1	APN	5	76,693,193 (GRCm39)	missense	probably damaging	0.97
IGL03089:Exoc1	APN	5	76,690,005 (GRCm39)	missense	possibly damaging	0.81
IGL03242:Exoc1	APN	5	76,706,854 (GRCm39)	missense	probably damaging	1.00
IGL03348:Exoc1	APN	5	76,683,440 (GRCm39)	missense	probably damaging	1.00
IGL03411:Exoc1	APN	5	76,690,042 (GRCm39)	missense	probably damaging	1.00
Smalls	UTSW	5	76,685,626 (GRCm39)	missense	probably damaging	1.00
R0462:Exoc1	UTSW	5	76,691,464 (GRCm39)	missense	probably benign	0.37
R1216:Exoc1	UTSW	5	76,702,035 (GRCm39)	missense	probably benign
R1528:Exoc1	UTSW	5	76,697,411 (GRCm39)	missense	possibly damaging	0.94
R1531:Exoc1	UTSW	5	76,707,011 (GRCm39)	missense	probably damaging	0.98
R1636:Exoc1	UTSW	5	76,715,965 (GRCm39)	missense	probably benign	0.03
R1754:Exoc1	UTSW	5	76,708,169 (GRCm39)	splice site	probably null
R1803:Exoc1	UTSW	5	76,709,288 (GRCm39)	missense	probably benign	0.18
R2086:Exoc1	UTSW	5	76,680,693 (GRCm39)	nonsense	probably null
R2239:Exoc1	UTSW	5	76,707,557 (GRCm39)	unclassified	probably benign
R3914:Exoc1	UTSW	5	76,691,408 (GRCm39)	missense	possibly damaging	0.54
R4022:Exoc1	UTSW	5	76,697,417 (GRCm39)	missense	possibly damaging	0.92
R4329:Exoc1	UTSW	5	76,715,822 (GRCm39)	missense	probably damaging	1.00
R4413:Exoc1	UTSW	5	76,689,866 (GRCm39)	intron	probably benign
R4427:Exoc1	UTSW	5	76,711,110 (GRCm39)	missense	probably benign	0.00
R4557:Exoc1	UTSW	5	76,709,290 (GRCm39)	missense	probably damaging	1.00
R4627:Exoc1	UTSW	5	76,690,075 (GRCm39)	missense	probably benign	0.26
R4677:Exoc1	UTSW	5	76,707,010 (GRCm39)	missense	probably null	0.82
R5138:Exoc1	UTSW	5	76,715,922 (GRCm39)	missense	probably damaging	1.00
R5325:Exoc1	UTSW	5	76,685,549 (GRCm39)	missense	probably benign
R5342:Exoc1	UTSW	5	76,714,861 (GRCm39)	missense	probably damaging	1.00
R5736:Exoc1	UTSW	5	76,685,615 (GRCm39)	missense	possibly damaging	0.90
R5891:Exoc1	UTSW	5	76,689,991 (GRCm39)	missense	probably damaging	1.00
R6102:Exoc1	UTSW	5	76,685,626 (GRCm39)	missense	probably damaging	1.00
R6447:Exoc1	UTSW	5	76,691,364 (GRCm39)	missense	probably damaging	0.97
R6532:Exoc1	UTSW	5	76,685,684 (GRCm39)	missense	probably damaging	0.99
R6694:Exoc1	UTSW	5	76,697,399 (GRCm39)	missense	probably damaging	1.00
R6753:Exoc1	UTSW	5	76,711,186 (GRCm39)	missense	probably damaging	1.00
R6885:Exoc1	UTSW	5	76,706,889 (GRCm39)	missense	probably damaging	1.00
R7090:Exoc1	UTSW	5	76,714,800 (GRCm39)	missense	unknown
R7299:Exoc1	UTSW	5	76,690,006 (GRCm39)	missense	probably damaging	1.00
R7439:Exoc1	UTSW	5	76,693,195 (GRCm39)	missense	probably benign	0.18
R7567:Exoc1	UTSW	5	76,685,562 (GRCm39)	missense	probably damaging	0.96
R7665:Exoc1	UTSW	5	76,691,420 (GRCm39)	missense	probably benign	0.33
R7745:Exoc1	UTSW	5	76,709,359 (GRCm39)	nonsense	probably null
R7883:Exoc1	UTSW	5	76,709,229 (GRCm39)	missense	probably damaging	0.99
R7918:Exoc1	UTSW	5	76,691,840 (GRCm39)	missense	probably benign	0.10
R7956:Exoc1	UTSW	5	76,705,704 (GRCm39)	missense	probably benign	0.01
R7977:Exoc1	UTSW	5	76,691,432 (GRCm39)	missense	probably damaging	1.00
R7987:Exoc1	UTSW	5	76,691,432 (GRCm39)	missense	probably damaging	1.00
R8191:Exoc1	UTSW	5	76,707,674 (GRCm39)	critical splice donor site	probably null
R8286:Exoc1	UTSW	5	76,711,087 (GRCm39)	missense	probably benign	0.00
R8670:Exoc1	UTSW	5	76,717,505 (GRCm39)	missense	probably damaging	1.00
R8791:Exoc1	UTSW	5	76,683,412 (GRCm39)	missense	probably damaging	1.00
R9308:Exoc1	UTSW	5	76,706,968 (GRCm39)	missense	probably benign	0.10
R9410:Exoc1	UTSW	5	76,706,989 (GRCm39)	missense	probably benign	0.21
R9717:Exoc1	UTSW	5	76,711,079 (GRCm39)	missense	probably benign	0.22
X0018:Exoc1	UTSW	5	76,714,882 (GRCm39)	missense	probably benign	0.01

Posted On

2012-12-06