Mutagenetix > Incidental Mutation

Incidental Mutation 'R2125:Exoc6'

229819

Institutional Source

Beutler Lab

Gene Symbol

Exoc6

Ensembl Gene

ENSMUSG00000053799

Gene Name

exocyst complex component 6

Synonyms

msec15, 4833405E05Rik, hbd, Sec15l1, Sec15

MMRRC Submission

040128-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2125 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

37525181-37672499 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 37579389 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 429 (L429P)

Ref Sequence

ENSEMBL: ENSMUSP00000064332 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000066439
AA Change: L429P

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000064332
Gene: ENSMUSG00000053799
AA Change: L429P

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

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 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: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadac	A	G	3: 59,947,066 (GRCm39)	T255A	possibly damaging	Het
Abcb10	A	C	8: 124,691,831 (GRCm39)	V378G	probably benign	Het
Ackr2	C	T	9: 121,737,852 (GRCm39)	R76*	probably null	Het
Acly	T	C	11: 100,414,322 (GRCm39)	T35A	probably benign	Het
Acp7	A	C	7: 28,328,974 (GRCm39)	F69V	probably damaging	Het
Acsl3	T	A	1: 78,659,678 (GRCm39)	I110N	probably damaging	Het
Adam5	C	T	8: 25,305,134 (GRCm39)	V107M	probably damaging	Het
Adck2	T	C	6: 39,552,076 (GRCm39)	V281A	probably benign	Het
Adgrv1	A	G	13: 81,567,654 (GRCm39)	V5173A	probably benign	Het
Adgrv1	A	T	13: 81,568,069 (GRCm39)	S5035T	probably benign	Het
Arl10	T	A	13: 54,726,937 (GRCm39)		probably null	Het
B3gnt3	A	G	8: 72,146,002 (GRCm39)	W176R	probably damaging	Het
B4galt4	T	C	16: 38,586,300 (GRCm39)	I3T	probably damaging	Het
Casr	T	C	16: 36,315,614 (GRCm39)	I819V	possibly damaging	Het
Cdh1	T	C	8: 107,383,472 (GRCm39)	V237A	probably damaging	Het
Col22a1	G	A	15: 71,720,426 (GRCm39)	R605C	unknown	Het
Crlf3	A	G	11: 79,950,081 (GRCm39)	V183A	probably benign	Het
Crtac1	C	A	19: 42,312,171 (GRCm39)	V181L	probably damaging	Het
Dclk2	C	T	3: 86,712,946 (GRCm39)	R503Q	possibly damaging	Het
Dnah12	A	T	14: 26,445,613 (GRCm39)	R725*	probably null	Het
Dnhd1	A	T	7: 105,327,178 (GRCm39)	H709L	probably benign	Het
Dop1a	A	G	9: 86,403,099 (GRCm39)	Y1431C	probably damaging	Het
Ecpas	T	C	4: 58,833,978 (GRCm39)	H834R	probably benign	Het
Eif2ak4	A	T	2: 118,252,604 (GRCm39)	H392L	probably benign	Het
Entpd3	T	C	9: 120,384,720 (GRCm39)	I99T	probably damaging	Het
Epha6	T	C	16: 59,503,051 (GRCm39)	D952G	probably damaging	Het
F13a1	A	G	13: 37,076,815 (GRCm39)	S625P	probably benign	Het
Fcgbpl1	A	T	7: 27,857,447 (GRCm39)	Y2265F	probably benign	Het
Fcho2	T	C	13: 98,912,406 (GRCm39)	N240S	possibly damaging	Het
Fcrl6	C	T	1: 172,426,815 (GRCm39)	V44M	probably benign	Het
Fmo6	A	T	1: 162,757,527 (GRCm39)	M82K	possibly damaging	Het
Gabrr2	T	G	4: 33,095,548 (GRCm39)	I479R	probably damaging	Het
Gnl2	T	A	4: 124,947,278 (GRCm39)	F633L	probably benign	Het
Greb1l	C	T	18: 10,511,422 (GRCm39)	S648F	probably damaging	Het
Gsap	T	A	5: 21,447,811 (GRCm39)	C290S	probably damaging	Het
Gusb	A	G	5: 130,028,288 (GRCm39)	V268A	probably benign	Het
H2-D1	G	A	17: 35,483,091 (GRCm39)		probably null	Het
Hebp2	T	A	10: 18,417,008 (GRCm39)	E164D	probably benign	Het
Higd1a	A	T	9: 121,679,313 (GRCm39)	I58N	probably damaging	Het
Hoxc13	G	T	15: 102,835,658 (GRCm39)	R262L	probably damaging	Het
Ifih1	A	G	2: 62,453,811 (GRCm39)	V218A	probably benign	Het
Impg2	T	A	16: 56,085,427 (GRCm39)	Y1045N	probably damaging	Het
Kcnk1	A	G	8: 126,722,395 (GRCm39)	E66G	probably damaging	Het
Klkb1	A	G	8: 45,728,541 (GRCm39)	V406A	possibly damaging	Het
Klra10	G	A	6: 130,256,241 (GRCm39)	R138W	probably damaging	Het
Lama2	A	C	10: 26,920,449 (GRCm39)	Y193*	probably null	Het
Larp7	T	C	3: 127,336,779 (GRCm39)	T428A	probably benign	Het
Lipg	T	C	18: 75,078,956 (GRCm39)	N432S	probably benign	Het
Loxl1	T	C	9: 58,200,995 (GRCm39)	D489G	probably damaging	Het
Lrguk	A	G	6: 34,069,837 (GRCm39)	K571E	probably benign	Het
Map3k13	C	T	16: 21,710,894 (GRCm39)	T59I	probably benign	Het
Mertk	T	A	2: 128,604,058 (GRCm39)	D397E	probably benign	Het
Mgat3	G	A	15: 80,096,087 (GRCm39)	V305I	probably benign	Het
Mrtfb	T	C	16: 13,218,668 (GRCm39)	V449A	possibly damaging	Het
Mybpc1	G	A	10: 88,409,299 (GRCm39)	Q66*	probably null	Het
Myo3a	A	G	2: 22,468,186 (GRCm39)	D480G	probably benign	Het
Ndufaf3	C	T	9: 108,443,936 (GRCm39)	R31Q	probably benign	Het
Neb	T	C	2: 52,200,650 (GRCm39)	Y343C	probably damaging	Het
Nrxn3	A	G	12: 89,227,290 (GRCm39)		probably null	Het
Or4c10b	A	G	2: 89,711,982 (GRCm39)	M271V	probably benign	Het
Or8k40	A	T	2: 86,584,796 (GRCm39)	N95K	probably benign	Het
Pcsk4	T	C	10: 80,159,713 (GRCm39)	M379V	probably benign	Het
Pdzd2	A	T	15: 12,373,676 (GRCm39)	V2153E	probably benign	Het
Pkd2l1	T	C	19: 44,142,939 (GRCm39)	D427G	possibly damaging	Het
Plcd4	A	G	1: 74,604,311 (GRCm39)	Y763C	probably damaging	Het
Plekhh1	T	C	12: 79,125,774 (GRCm39)	F1270S	probably damaging	Het
Pmfbp1	T	C	8: 110,246,905 (GRCm39)	V259A	probably damaging	Het
Ptprg	T	C	14: 12,179,283 (GRCm38)	S767P	possibly damaging	Het
Rabl3	T	G	16: 37,377,175 (GRCm39)		probably null	Het
Rffl	T	A	11: 82,709,264 (GRCm39)	H53L	probably damaging	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Rtl1	C	T	12: 109,560,355 (GRCm39)	V495I	possibly damaging	Het
Scaf11	A	T	15: 96,317,196 (GRCm39)	D789E	possibly damaging	Het
Scn2a	T	A	2: 65,582,423 (GRCm39)	Y1590*	probably null	Het
Siglech	T	A	7: 55,421,434 (GRCm39)	F190I	probably benign	Het
Slc22a22	C	A	15: 57,117,636 (GRCm39)	A302S	probably damaging	Het
Slc46a3	T	A	5: 147,815,954 (GRCm39)	T458S	probably benign	Het
Spta1	G	T	1: 174,035,910 (GRCm39)	R1072L	possibly damaging	Het
Tbx5	A	G	5: 119,974,988 (GRCm39)	T4A	probably benign	Het
Tdrd5	T	C	1: 156,104,143 (GRCm39)	R528G	probably damaging	Het
Tfip11	T	C	5: 112,483,529 (GRCm39)	V648A	possibly damaging	Het
Thumpd3	T	C	6: 113,043,749 (GRCm39)	V388A	probably benign	Het
Tmem131l	C	T	3: 83,850,058 (GRCm39)		probably null	Het
Ttf2	C	A	3: 100,855,509 (GRCm39)	Q895H	possibly damaging	Het
Ttn	A	T	2: 76,720,436 (GRCm39)		probably null	Het
Vmn2r13	A	G	5: 109,306,058 (GRCm39)	S507P	probably benign	Het
Vtn	A	G	11: 78,391,049 (GRCm39)	T210A	probably damaging	Het
Zfp1010	C	A	2: 176,957,195 (GRCm39)	C101F	probably damaging	Het
Znhit2	A	G	19: 6,112,091 (GRCm39)	T279A	probably benign	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
R1747:Exoc6	UTSW	19	37,628,217 (GRCm39)	splice site	probably null
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'- TATGAGAGCCTGGCTGACTTC -3'
(R):5'- CAATATAGTTCACTACATGGTCCAC -3'

Sequencing Primer
(F):5'- AGCCTGGCTGACTTCCTTGG -3'
(R):5'- TCCCAACAGTGTGAATGTGC -3'

Posted On

2014-09-17