Mutagenetix > Incidental Mutation

Incidental Mutation 'R0462:Exoc1'

41363

Institutional Source

Beutler Lab

Gene Symbol

Exoc1

Ensembl Gene

ENSMUSG00000036435

Gene Name

exocyst complex component 1

Synonyms

Sec3l1, A730011E05Rik, SEC3, Sec3p, 2810407P21Rik

MMRRC Submission

038662-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0462 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

76677158-76718141 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 76691464 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 263 (N263D)

Ref Sequence

ENSEMBL: ENSMUSP00000109121 (fasta)

Gene Model

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

AlphaFold

Q8R3S6

Predicted Effect

probably benign
Transcript: ENSMUST00000049469
AA Change: N256D

PolyPhen 2 Score 0.117 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000046719
Gene: ENSMUSG00000036435
AA Change: N256D

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: N256D

PolyPhen 2 Score 0.122 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000084373
Gene: ENSMUSG00000036435
AA Change: N256D

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: N263D

PolyPhen 2 Score 0.370 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000109121
Gene: ENSMUSG00000036435
AA Change: N263D

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: ENSMUST00000131470

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137018

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141884

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150829

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.5%
20x: 93.2%

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aarsd1	A	T	11: 101,304,917 (GRCm39)	D190E	probably damaging	Het
Acnat2	A	G	4: 49,383,084 (GRCm39)		probably null	Het
Acot10	T	G	15: 20,666,712 (GRCm39)	T10P	possibly damaging	Het
Aldh7a1	T	C	18: 56,667,286 (GRCm39)		probably null	Het
Alkbh7	G	A	17: 57,305,443 (GRCm39)	V87I	probably benign	Het
Ano2	A	T	6: 125,689,238 (GRCm39)	H121L	probably benign	Het
Apob	A	T	12: 8,050,896 (GRCm39)	Y1040F	probably damaging	Het
Arhgap25	A	T	6: 87,436,942 (GRCm39)	V636E	possibly damaging	Het
Atad2b	A	T	12: 4,991,973 (GRCm39)	T191S	possibly damaging	Het
Atpsckmt	T	C	15: 31,617,018 (GRCm39)	M161T	probably damaging	Het
Btbd9	A	T	17: 30,749,191 (GRCm39)	V41D	possibly damaging	Het
Bzw2	G	A	12: 36,174,023 (GRCm39)	R25C	probably damaging	Het
Carmil1	T	C	13: 24,206,494 (GRCm39)	S1326G	probably benign	Het
Cdh18	A	G	15: 23,366,971 (GRCm39)	R226G	probably damaging	Het
Cdh3	A	G	8: 107,282,012 (GRCm39)	N800S	possibly damaging	Het
Cep152	A	T	2: 125,425,854 (GRCm39)	V837E	possibly damaging	Het
Cep85	G	A	4: 133,858,732 (GRCm39)	T713M	possibly damaging	Het
Chd7	T	C	4: 8,850,821 (GRCm39)	Y1736H	probably damaging	Het
Chst3	T	C	10: 60,022,535 (GRCm39)	E104G	probably benign	Het
Cic	T	A	7: 24,986,565 (GRCm39)	S1299T	probably damaging	Het
Cic	C	A	7: 24,986,566 (GRCm39)	S1299Y	probably damaging	Het
Cmah	T	A	13: 24,620,724 (GRCm39)	S319R	possibly damaging	Het
Cnbd1	A	G	4: 18,895,044 (GRCm39)	F233L	probably benign	Het
Cpne5	T	C	17: 29,395,163 (GRCm39)	E251G	probably benign	Het
Csf2rb2	G	A	15: 78,169,373 (GRCm39)	P485L	probably damaging	Het
Dimt1	T	C	13: 107,085,264 (GRCm39)	M70T	possibly damaging	Het
Dlk2	A	G	17: 46,614,024 (GRCm39)	*383W	probably null	Het
Dnah2	G	A	11: 69,350,027 (GRCm39)	R2369C	probably damaging	Het
Dock2	A	G	11: 34,218,052 (GRCm39)	F1173L	possibly damaging	Het
Dok7	A	G	5: 35,223,806 (GRCm39)	H115R	possibly damaging	Het
Dpy19l1	A	G	9: 24,325,645 (GRCm39)	I720T	probably benign	Het
Eps8	A	T	6: 137,491,309 (GRCm39)	D356E	probably benign	Het
Fbxl3	T	C	14: 103,320,322 (GRCm39)	D375G	probably damaging	Het
Fcgbpl1	A	T	7: 27,836,765 (GRCm39)	D228V	probably damaging	Het
Flg2	A	T	3: 93,108,744 (GRCm39)	E257D	probably benign	Het
Fstl4	A	G	11: 53,077,229 (GRCm39)	D662G	probably benign	Het
Gbp10	G	T	5: 105,366,390 (GRCm39)	Q505K	possibly damaging	Het
Gemin2	C	T	12: 59,060,305 (GRCm39)	P15S	probably damaging	Het
Grhl2	A	G	15: 37,344,919 (GRCm39)	M514V	probably benign	Het
Hgs	A	G	11: 120,369,970 (GRCm39)	N413D	possibly damaging	Het
Il12rb2	T	C	6: 67,280,594 (GRCm39)	S538G	possibly damaging	Het
Kdm5a	A	G	6: 120,379,561 (GRCm39)	D623G	probably damaging	Het
Kifbp	A	T	10: 62,395,235 (GRCm39)	I469N	probably damaging	Het
Matk	G	T	10: 81,095,527 (GRCm39)	V116F	probably damaging	Het
Mcm3	T	C	1: 20,875,556 (GRCm39)	T694A	probably benign	Het
Mctp1	C	A	13: 76,949,520 (GRCm39)	H260Q	probably damaging	Het
Mios	T	A	6: 8,215,743 (GRCm39)	I313K	probably benign	Het
Muc4	T	A	16: 32,582,910 (GRCm39)	Y2562N	possibly damaging	Het
Naip5	T	A	13: 100,358,240 (GRCm39)	I999F	probably damaging	Het
Or11h4	T	A	14: 50,974,554 (GRCm39)	I22L	probably benign	Het
Or14j7	A	T	17: 38,234,667 (GRCm39)	D70V	probably damaging	Het
Or1x6	A	G	11: 50,939,336 (GRCm39)	Y134C	probably damaging	Het
Or52a5	A	T	7: 103,426,770 (GRCm39)	S261T	probably benign	Het
Or7g12	A	T	9: 18,900,198 (GRCm39)	I305F	probably benign	Het
Or8g52	T	A	9: 39,630,706 (GRCm39)	F61Y	probably benign	Het
Pafah1b1	A	G	11: 74,568,541 (GRCm39)	V396A	probably benign	Het
Pard6b	T	A	2: 167,929,467 (GRCm39)	I91N	possibly damaging	Het
Pdzd2	T	C	15: 12,592,246 (GRCm39)	S133G	probably damaging	Het
Plcg2	T	G	8: 118,312,044 (GRCm39)	S445R	probably benign	Het
Plekhd1	G	T	12: 80,768,352 (GRCm39)	V396L	probably damaging	Het
Ppp4r2	A	G	6: 100,843,518 (GRCm39)	D294G	possibly damaging	Het
Ppwd1	T	C	13: 104,359,468 (GRCm39)		probably null	Het
Prr22	A	G	17: 57,077,551 (GRCm39)		probably benign	Het
Psme4	A	G	11: 30,798,117 (GRCm39)	D1370G	probably damaging	Het
Rac3	T	A	11: 120,613,684 (GRCm39)	V86D	probably damaging	Het
Rnf207	T	C	4: 152,397,829 (GRCm39)	S335G	possibly damaging	Het
Rxfp3	A	G	15: 11,037,063 (GRCm39)	L103P	probably damaging	Het
Slc17a3	C	T	13: 24,039,841 (GRCm39)	S293F	probably damaging	Het
Smpdl3a	G	T	10: 57,670,827 (GRCm39)	C17F	probably benign	Het
Spaca7b	T	A	8: 11,711,749 (GRCm39)		probably benign	Het
Spata31g1	T	A	4: 42,973,429 (GRCm39)	F921I	probably benign	Het
Spen	A	T	4: 141,200,962 (GRCm39)	I2555N	probably damaging	Het
Srpk2	G	T	5: 23,723,424 (GRCm39)	T564K	probably damaging	Het
Stard4	C	T	18: 33,338,202 (GRCm39)	R116H	probably damaging	Het
Supt7l	A	T	5: 31,677,640 (GRCm39)	S175R	probably damaging	Het
Sycp1	A	T	3: 102,726,422 (GRCm39)	Y932N	possibly damaging	Het
Tas2r122	T	C	6: 132,688,141 (GRCm39)	M251V	probably benign	Het
Tbx15	A	T	3: 99,223,634 (GRCm39)	E274V	probably damaging	Het
Tex52	A	G	6: 128,361,917 (GRCm39)	E298G	probably benign	Het
Tmem101	T	C	11: 102,046,693 (GRCm39)	M59V	probably benign	Het
Tmem132b	T	C	5: 125,862,990 (GRCm39)	V665A	probably damaging	Het
Trim23	T	C	13: 104,334,541 (GRCm39)	V347A	probably damaging	Het
Ush2a	A	G	1: 188,643,136 (GRCm39)	H4166R	probably benign	Het
Vmn2r101	G	T	17: 19,810,431 (GRCm39)	V406L	probably benign	Het
Vrk3	A	G	7: 44,413,624 (GRCm39)	D166G	possibly damaging	Het
Washc4	T	A	10: 83,392,777 (GRCm39)	M259K	probably benign	Het
Wdr70	T	C	15: 8,108,645 (GRCm39)	D167G	probably benign	Het
Zfp1005	A	G	2: 150,111,122 (GRCm39)	E604G	possibly damaging	Het
Zfp28	A	T	7: 6,395,239 (GRCm39)	Q248L	possibly damaging	Het
Zfp39	A	G	11: 58,781,232 (GRCm39)	I510T	probably benign	Het
Zfp710	T	A	7: 79,740,089 (GRCm39)	*646R	probably null	Het
Zfp90	C	T	8: 107,151,892 (GRCm39)	S535L	possibly damaging	Het
Zfp949	C	T	9: 88,450,787 (GRCm39)	T119I	possibly damaging	Het

Other mutations in Exoc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00679:Exoc1	APN	5	76,714,870 (GRCm39)	missense	possibly damaging	0.88
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
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

Predicted Primers

PCR Primer
(F):5'- GAACCAGACACTGGCTGACTTGAC -3'
(R):5'- GGAAAATACAGGCAGGGCACTACTC -3'

Sequencing Primer
(F):5'- TGTACACGTCTAAACAGCAGG -3'
(R):5'- GCAGGGCACTACTCACCTATC -3'

Posted On

2013-05-23