Mutagenetix > Incidental Mutation

Incidental Mutation 'R1747:Exoc6'

194084

Institutional Source

Beutler Lab

Gene Symbol

Exoc6

Ensembl Gene

ENSMUSG00000053799

Gene Name

exocyst complex component 6

Synonyms

msec15, 4833405E05Rik, hbd, Sec15l1, Sec15

MMRRC Submission

039779-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1747 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

37525181-37672499 bp(+) (GRCm39)

Type of Mutation

splice site (6 bp from exon)

DNA Base Change (assembly)

T to A at 37628217 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000064332 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000066439]

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000066439

SMART Domains

Protein: ENSMUSP00000064332
Gene: ENSMUSG00000053799

Domain	Start	End	E-Value	Type
low complexity region	265	273	N/A	INTRINSIC
Pfam:Sec15	456	762	8.1e-109	PFAM

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.4%
20x: 92.7%

Validation Efficiency

97% (65/67)

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 highly similar to the Saccharomyces cerevisiae SEC15 gene product, which is essential for vesicular traffic from the Golgi apparatus to the cell surface in yeast. It is one of the components of a multiprotein complex required for exocytosis. The 5' portion of this gene and two neighboring cytochrome p450 genes are included in a deletion that results in an autosomal-dominant form of nonsyndromic optic nerve aplasia (ONA). Alternative splicing and the use of alternative promoters results in multiple transcript variants. A paralogous gene encoding a similar protein is present on chromosome 2. [provided by RefSeq, Jan 2016]
PHENOTYPE: Homozygotes for a spontaneous mutation exhibit severe microcytic anemia, erythrocyte hyperchromia, and markedly increased levels of red cell protoporphyrin. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700029H14Rik	C	T	8: 13,608,814 (GRCm39)	S117N	probably damaging	Het
Acat3	A	G	17: 13,143,695 (GRCm39)	I349T	possibly damaging	Het
Add3	A	G	19: 53,230,981 (GRCm39)	N552S	probably benign	Het
Ak3	G	T	19: 29,000,261 (GRCm39)	P217T	possibly damaging	Het
Aox1	A	T	1: 58,378,751 (GRCm39)	D1000V	probably benign	Het
Ap1m2	A	G	9: 21,216,982 (GRCm39)	M118T	probably damaging	Het
Arhgap28	C	A	17: 68,208,304 (GRCm39)	A105S	probably benign	Het
Arhgef28	T	C	13: 98,073,332 (GRCm39)	E1368G	probably damaging	Het
Armc7	G	A	11: 115,379,583 (GRCm39)	V94I	probably benign	Het
Asxl1	C	A	2: 153,235,374 (GRCm39)	T223N	possibly damaging	Het
Btbd8	T	C	5: 107,599,865 (GRCm39)	S119P	probably damaging	Het
Cltc	T	C	11: 86,597,907 (GRCm39)	K1078E	probably damaging	Het
Cpne8	G	A	15: 90,469,118 (GRCm39)	T158I	probably benign	Het
Csn1s2b	T	C	5: 87,964,529 (GRCm39)		probably benign	Het
Cyp3a59	A	G	5: 146,041,568 (GRCm39)	I371V	probably benign	Het
Dennd4c	T	C	4: 86,725,675 (GRCm39)	F710L	probably damaging	Het
Diaph3	T	C	14: 87,310,773 (GRCm39)	D126G	probably damaging	Het
Dnm3	G	A	1: 162,141,153 (GRCm39)	R369C	probably damaging	Het
Dst	A	C	1: 34,199,790 (GRCm39)	Q86P	probably damaging	Het
Ern2	C	A	7: 121,773,042 (GRCm39)		probably null	Het
Ern2	T	A	7: 121,773,043 (GRCm39)		probably null	Het
Glg1	G	A	8: 111,924,305 (GRCm39)	R228C	probably damaging	Het
Gm4736	G	A	6: 132,092,633 (GRCm39)		noncoding transcript	Het
Hmcn2	G	C	2: 31,347,997 (GRCm39)	G4881A	probably benign	Het
Htr2a	T	G	14: 74,943,593 (GRCm39)	F391C	probably damaging	Het
Htr5b	A	T	1: 121,455,647 (GRCm39)	V91E	probably damaging	Het
Ifi44	T	A	3: 151,454,922 (GRCm39)	H101L	probably benign	Het
Ip6k1	G	A	9: 107,918,195 (GRCm39)	E77K	possibly damaging	Het
Klhl6	T	A	16: 19,765,778 (GRCm39)	H608L	probably benign	Het
Lrp4	T	C	2: 91,322,966 (GRCm39)	V1150A	probably damaging	Het
Lyst	T	C	13: 13,932,007 (GRCm39)	F3545S	probably benign	Het
Magi3	T	C	3: 103,941,489 (GRCm39)	D822G	possibly damaging	Het
Nbas	G	A	12: 13,385,899 (GRCm39)	S721N	probably benign	Het
Nog	T	A	11: 89,192,408 (GRCm39)	M147L	probably benign	Het
Npr1	C	T	3: 90,365,976 (GRCm39)	C605Y	possibly damaging	Het
Or7e173	A	C	9: 19,938,613 (GRCm39)	V207G	probably benign	Het
Or8k21	G	A	2: 86,145,211 (GRCm39)	L140F	probably benign	Het
Pgs1	A	G	11: 117,892,457 (GRCm39)	S10G	probably benign	Het
Pla2g4c	T	C	7: 13,071,655 (GRCm39)		probably benign	Het
Prdm14	C	T	1: 13,192,627 (GRCm39)	V371I	possibly damaging	Het
Prom1	C	T	5: 44,164,373 (GRCm39)	V703I	probably benign	Het
Ptprk	A	G	10: 28,230,688 (GRCm39)	T260A	possibly damaging	Het
Scnn1g	A	T	7: 121,359,686 (GRCm39)	I390F	probably damaging	Het
Scrt2	C	T	2: 151,935,638 (GRCm39)	H264Y	probably damaging	Het
Sel1l3	C	T	5: 53,302,887 (GRCm39)	E661K	possibly damaging	Het
Skic2	G	T	17: 35,066,782 (GRCm39)	P162H	probably benign	Het
Slc10a5	G	T	3: 10,400,451 (GRCm39)	Q70K	probably benign	Het
Smg8	A	G	11: 86,976,129 (GRCm39)	V484A	possibly damaging	Het
Sp110	C	G	1: 85,516,839 (GRCm39)	E219D	probably damaging	Het
Stag1	T	A	9: 100,770,353 (GRCm39)	S630T	probably benign	Het
Thyn1	A	C	9: 26,916,509 (GRCm39)	Q98P	probably damaging	Het
Ttc7	A	G	17: 87,614,443 (GRCm39)	R203G	possibly damaging	Het
Ttn	T	C	2: 76,708,860 (GRCm39)		probably benign	Het
Vmn1r236	C	T	17: 21,507,179 (GRCm39)	S99L	probably benign	Het
Vmn2r50	T	A	7: 9,781,605 (GRCm39)	H380L	probably benign	Het
Vmn2r73	A	T	7: 85,507,375 (GRCm39)	C646S	probably damaging	Het
Wnt10b	A	G	15: 98,672,214 (GRCm39)	S168P	probably benign	Het
Zc3h7a	A	G	16: 10,963,117 (GRCm39)	M748T	possibly damaging	Het
Zfp804b	C	G	5: 6,820,217 (GRCm39)	E913Q	probably benign	Het
Zfp974	G	T	7: 27,610,506 (GRCm39)	F406L	possibly damaging	Het
Zic4	G	A	9: 91,266,199 (GRCm39)	C274Y	probably damaging	Het

Other mutations in Exoc6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01432:Exoc6	APN	19	37,578,324 (GRCm39)	missense	possibly damaging	0.68
IGL01716:Exoc6	APN	19	37,671,412 (GRCm39)	missense	probably damaging	0.98
IGL02363:Exoc6	APN	19	37,597,402 (GRCm39)	missense	probably damaging	1.00
IGL02383:Exoc6	APN	19	37,566,922 (GRCm39)	missense	probably benign
IGL03394:Exoc6	APN	19	37,588,020 (GRCm39)	missense	probably benign	0.15
australamerican	UTSW	19	37,587,127 (GRCm39)	critical splice donor site	probably null
IGL03046:Exoc6	UTSW	19	37,582,217 (GRCm39)	critical splice donor site	probably null
R1156:Exoc6	UTSW	19	37,671,345 (GRCm39)	missense	probably benign	0.05
R1489:Exoc6	UTSW	19	37,585,568 (GRCm39)	missense	possibly damaging	0.71
R2125:Exoc6	UTSW	19	37,579,389 (GRCm39)	missense	probably damaging	1.00
R2863:Exoc6	UTSW	19	37,641,861 (GRCm39)	missense	probably benign	0.34
R4090:Exoc6	UTSW	19	37,560,360 (GRCm39)	missense	probably benign
R4666:Exoc6	UTSW	19	37,558,953 (GRCm39)	missense	probably damaging	0.97
R4674:Exoc6	UTSW	19	37,597,530 (GRCm39)	missense	probably damaging	1.00
R5382:Exoc6	UTSW	19	37,587,127 (GRCm39)	critical splice donor site	probably null
R5471:Exoc6	UTSW	19	37,588,065 (GRCm39)	missense	probably benign	0.30
R5533:Exoc6	UTSW	19	37,582,218 (GRCm39)	splice site	probably null
R5607:Exoc6	UTSW	19	37,566,977 (GRCm39)	missense	probably benign	0.01
R5641:Exoc6	UTSW	19	37,576,081 (GRCm39)	splice site	probably null
R5759:Exoc6	UTSW	19	37,562,189 (GRCm39)	nonsense	probably null
R5889:Exoc6	UTSW	19	37,570,693 (GRCm39)	missense	probably damaging	1.00
R6592:Exoc6	UTSW	19	37,560,360 (GRCm39)	missense	probably benign
R6936:Exoc6	UTSW	19	37,560,311 (GRCm39)	missense	probably benign	0.00
R6988:Exoc6	UTSW	19	37,597,539 (GRCm39)	missense	probably damaging	1.00
R7088:Exoc6	UTSW	19	37,565,458 (GRCm39)	missense	probably damaging	0.99
R7162:Exoc6	UTSW	19	37,565,566 (GRCm39)	missense	probably damaging	0.97
R7948:Exoc6	UTSW	19	37,565,422 (GRCm39)	missense	probably benign	0.00
R8266:Exoc6	UTSW	19	37,565,497 (GRCm39)	missense	probably benign	0.00
R8525:Exoc6	UTSW	19	37,597,440 (GRCm39)	missense	possibly damaging	0.53
R8917:Exoc6	UTSW	19	37,578,360 (GRCm39)	missense	probably benign	0.35
R9003:Exoc6	UTSW	19	37,587,097 (GRCm39)	missense	probably damaging	1.00
R9159:Exoc6	UTSW	19	37,597,478 (GRCm39)	missense	probably benign	0.00
R9435:Exoc6	UTSW	19	37,585,545 (GRCm39)	missense	probably benign	0.00
R9459:Exoc6	UTSW	19	37,574,341 (GRCm39)	missense	probably benign	0.00
R9527:Exoc6	UTSW	19	37,558,987 (GRCm39)	missense	probably benign	0.26
R9563:Exoc6	UTSW	19	37,588,071 (GRCm39)	missense	probably damaging	1.00
R9730:Exoc6	UTSW	19	37,588,032 (GRCm39)	missense	probably benign	0.02
RF009:Exoc6	UTSW	19	37,560,068 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TAGCTGTGACTCCGTACCACAGAC -3'
(R):5'- CTTCCGAGGAAGGAGTTCGCTTTAC -3'

Sequencing Primer
(F):5'- TTGTAAGAGTCCCAGGTGTAAAGTC -3'
(R):5'- GAGTTCGCTTTACTTCTAAAGCTG -3'

Posted On

2014-05-23