Mutagenetix > Incidental Mutation

Incidental Mutation 'R4273:Exoc5'

322291

Institutional Source

Beutler Lab

Gene Symbol

Exoc5

Ensembl Gene

ENSMUSG00000061244

Gene Name

exocyst complex component 5

Synonyms

PRO1912, Sec10l1, SEC10

MMRRC Submission

041645-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.950) question?

Stock #

R4273 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

49249379-49304124 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 49252937 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 625 (C625*)

Ref Sequence

ENSEMBL: ENSMUSP00000125434 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000161504] [ENSMUST00000162175]

AlphaFold

Q3TPX4

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159651

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160453

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160833

Predicted Effect

probably null
Transcript: ENSMUST00000161504
AA Change: C560*

SMART Domains

Protein: ENSMUSP00000124012
Gene: ENSMUSG00000061244
AA Change: C560*

Domain	Start	End	E-Value	Type
Pfam:Sec10	43	175	9.5e-24	PFAM
Pfam:Sec10	175	642	1.1e-119	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000162175
AA Change: C625*

SMART Domains

Protein: ENSMUSP00000125434
Gene: ENSMUSG00000061244
AA Change: C625*

Domain	Start	End	E-Value	Type
Pfam:Sec10	89	707	6.6e-154	PFAM

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.7%
20x: 96.1%

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 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. The complex is also essential for the biogenesis of epithelial cell surface polarity. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a conditional allele activated in all cells die prior to E8.5. Mice homozygous for a conditional allele activated in kidney cells exhibit ureteropelvic junction obstructions leading to neontal death. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acer2	T	A	4: 86,792,835 (GRCm39)		probably null	Het
Adgrf2	T	A	17: 43,021,013 (GRCm39)	T604S	probably damaging	Het
Akap8l	T	A	17: 32,540,905 (GRCm39)	K533*	probably null	Het
Appbp2	T	C	11: 85,125,502 (GRCm39)	Y45C	probably damaging	Het
Arap2	T	C	5: 62,828,322 (GRCm39)	I950V	possibly damaging	Het
Arhgap31	T	C	16: 38,422,697 (GRCm39)	E1123G	possibly damaging	Het
Atp2c1	G	T	9: 105,312,339 (GRCm39)	N493K	probably benign	Het
Bcr	T	C	10: 74,960,943 (GRCm39)	I458T	probably damaging	Het
Brd4	G	A	17: 32,433,756 (GRCm39)	T468I	probably benign	Het
Cdh23	T	A	10: 60,146,940 (GRCm39)	D2774V	possibly damaging	Het
Cfdp1	T	C	8: 112,495,417 (GRCm39)	Y267C	probably damaging	Het
Chd6	C	A	2: 160,803,211 (GRCm39)	A2156S	probably benign	Het
Dazap2	C	A	15: 100,515,971 (GRCm39)	P100T	probably damaging	Het
Disp1	T	A	1: 182,869,208 (GRCm39)	I1071F	possibly damaging	Het
Dlgap1	T	A	17: 71,073,038 (GRCm39)	S686T	probably benign	Het
Dst	C	T	1: 34,231,421 (GRCm39)	R3183C	possibly damaging	Het
Enpp4	T	C	17: 44,412,698 (GRCm39)	N279D	probably benign	Het
Exoc3l	T	C	8: 106,016,593 (GRCm39)	*740W	probably null	Het
Fam98b	A	T	2: 117,090,712 (GRCm39)	N137Y	possibly damaging	Het
Fat4	T	A	3: 38,945,776 (GRCm39)	D1556E	probably damaging	Het
Fcer2a	C	A	8: 3,732,848 (GRCm39)	V319L	possibly damaging	Het
Fer1l6	T	C	15: 58,499,371 (GRCm39)	V1247A	probably benign	Het
Fmo4	A	G	1: 162,632,748 (GRCm39)	V201A	probably damaging	Het
Fras1	G	A	5: 96,762,763 (GRCm39)	G755D	probably benign	Het
Grid2	T	C	6: 63,886,029 (GRCm39)	Y142H	probably damaging	Het
Hspg2	C	T	4: 137,246,251 (GRCm39)	R1010C	probably damaging	Het
Ibtk	T	C	9: 85,608,784 (GRCm39)	Q376R	probably damaging	Het
Impdh2	T	C	9: 108,442,155 (GRCm39)	M414T	probably damaging	Het
Itm2c	A	G	1: 85,834,750 (GRCm39)	T160A	probably damaging	Het
Kcna2	T	A	3: 107,012,509 (GRCm39)	D363E	probably benign	Het
Lama2	C	T	10: 27,223,050 (GRCm39)	C412Y	probably damaging	Het
Lims2	C	G	18: 32,089,390 (GRCm39)	T151S	probably benign	Het
Mier1	T	C	4: 103,019,628 (GRCm39)	S423P	possibly damaging	Het
Mrgpra3	A	T	7: 47,239,180 (GRCm39)	W249R	probably benign	Het
Mtor	A	G	4: 148,634,609 (GRCm39)	H2410R	probably benign	Het
Mvp	C	T	7: 126,588,875 (GRCm39)	A631T	probably benign	Het
Nepro	T	C	16: 44,556,192 (GRCm39)	V450A	possibly damaging	Het
Ngrn	T	C	7: 79,914,269 (GRCm39)	V140A	probably damaging	Het
Nobox	T	C	6: 43,282,942 (GRCm39)	E231G	probably benign	Het
Or10al7	A	T	17: 38,366,163 (GRCm39)	I98N	probably damaging	Het
P3h2	T	A	16: 25,923,971 (GRCm39)	I155F	probably benign	Het
Pcdha3	C	T	18: 37,081,144 (GRCm39)	R629C	probably damaging	Het
Pramel24	A	T	4: 143,453,416 (GRCm39)	K175*	probably null	Het
Riok3	AGAAGCGG	AG	18: 12,268,998 (GRCm39)		probably benign	Het
Rttn	T	C	18: 89,110,020 (GRCm39)	I1675T	probably benign	Het
Sall2	C	A	14: 52,551,260 (GRCm39)	R643L	probably damaging	Het
Slc35f4	G	T	14: 49,541,758 (GRCm39)	T182N	possibly damaging	Het
Slc52a3	T	A	2: 151,847,660 (GRCm39)	I256N	possibly damaging	Het
Sox9	T	C	11: 112,675,980 (GRCm39)	S390P	possibly damaging	Het
Tango2	T	C	16: 18,120,654 (GRCm39)		probably benign	Het
Tas1r1	T	C	4: 152,116,614 (GRCm39)	E340G	possibly damaging	Het
Tek	G	A	4: 94,718,207 (GRCm39)	G524R	probably damaging	Het
Tmem260	A	T	14: 48,742,761 (GRCm39)	Y532F	probably benign	Het
Tsks	C	A	7: 44,607,353 (GRCm39)	L559I	probably damaging	Het
Unc79	C	A	12: 103,088,612 (GRCm39)	L1702I	probably damaging	Het
Vmn1r14	T	A	6: 57,211,133 (GRCm39)	I237N	probably damaging	Het
Vmn2r17	G	A	5: 109,600,832 (GRCm39)	C710Y	probably benign	Het
Zfp119b	G	T	17: 56,245,926 (GRCm39)	T420K	possibly damaging	Het
Zfp202	C	T	9: 40,118,790 (GRCm39)	R68*	probably null	Het
Zfp229	T	A	17: 21,965,802 (GRCm39)	S677R	probably benign	Het
Zfp462	C	T	4: 55,008,411 (GRCm39)	H126Y	probably benign	Het
Zfp52	C	A	17: 21,780,459 (GRCm39)	Y102*	probably null	Het
Zfp616	T	A	11: 73,974,526 (GRCm39)	M265K	probably benign	Het
Zfyve9	A	T	4: 108,538,173 (GRCm39)	I1031N	probably damaging	Het
Zmynd11	T	C	13: 9,747,726 (GRCm39)	Y203C	probably damaging	Het

Other mutations in Exoc5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01010:Exoc5	APN	14	49,275,212 (GRCm39)	missense	probably damaging	1.00
IGL01473:Exoc5	APN	14	49,251,751 (GRCm39)	missense	possibly damaging	0.83
IGL01599:Exoc5	APN	14	49,272,421 (GRCm39)	missense	probably benign	0.00
IGL01702:Exoc5	APN	14	49,253,072 (GRCm39)	nonsense	probably null
IGL02173:Exoc5	APN	14	49,272,258 (GRCm39)	splice site	probably benign
IGL02211:Exoc5	APN	14	49,251,667 (GRCm39)	missense	probably damaging	1.00
IGL02874:Exoc5	APN	14	49,288,903 (GRCm39)	missense	probably benign	0.02
IGL02968:Exoc5	APN	14	49,270,726 (GRCm39)	critical splice donor site	probably null
IGL03167:Exoc5	APN	14	49,288,802 (GRCm39)	missense	probably damaging	1.00
IGL03207:Exoc5	APN	14	49,270,832 (GRCm39)	missense	probably benign
PIT4260001:Exoc5	UTSW	14	49,286,222 (GRCm39)	missense	probably benign	0.01
R0139:Exoc5	UTSW	14	49,273,493 (GRCm39)	missense	probably damaging	1.00
R0594:Exoc5	UTSW	14	49,273,544 (GRCm39)	splice site	probably benign
R0945:Exoc5	UTSW	14	49,276,799 (GRCm39)	splice site	probably benign
R1968:Exoc5	UTSW	14	49,272,347 (GRCm39)	missense	probably benign	0.27
R2082:Exoc5	UTSW	14	49,253,044 (GRCm39)	missense	probably benign	0.07
R2186:Exoc5	UTSW	14	49,252,936 (GRCm39)	missense	probably benign	0.08
R2356:Exoc5	UTSW	14	49,253,738 (GRCm39)	missense	probably benign	0.00
R3419:Exoc5	UTSW	14	49,260,735 (GRCm39)	missense	probably damaging	1.00
R3743:Exoc5	UTSW	14	49,270,864 (GRCm39)	nonsense	probably null
R3743:Exoc5	UTSW	14	49,251,806 (GRCm39)	missense	probably benign	0.00
R3870:Exoc5	UTSW	14	49,256,853 (GRCm39)	splice site	probably benign
R4794:Exoc5	UTSW	14	49,286,357 (GRCm39)	critical splice acceptor site	probably null
R4853:Exoc5	UTSW	14	49,289,826 (GRCm39)	small deletion	probably benign
R4864:Exoc5	UTSW	14	49,289,839 (GRCm39)	missense	probably benign	0.00
R4883:Exoc5	UTSW	14	49,289,821 (GRCm39)	missense	probably damaging	1.00
R5098:Exoc5	UTSW	14	49,286,304 (GRCm39)	missense	possibly damaging	0.90
R5965:Exoc5	UTSW	14	49,272,388 (GRCm39)	missense	probably damaging	1.00
R6036:Exoc5	UTSW	14	49,251,779 (GRCm39)	missense	possibly damaging	0.82
R6036:Exoc5	UTSW	14	49,251,779 (GRCm39)	missense	possibly damaging	0.82
R6820:Exoc5	UTSW	14	49,286,387 (GRCm39)	splice site	probably null
R8473:Exoc5	UTSW	14	49,256,860 (GRCm39)	missense	probably null	0.98
R8987:Exoc5	UTSW	14	49,252,986 (GRCm39)	missense	probably damaging	1.00
R9229:Exoc5	UTSW	14	49,251,710 (GRCm39)	nonsense	probably null
R9250:Exoc5	UTSW	14	49,256,915 (GRCm39)	missense	probably damaging	1.00
R9340:Exoc5	UTSW	14	49,286,297 (GRCm39)	missense	probably damaging	0.98
R9381:Exoc5	UTSW	14	49,275,194 (GRCm39)	missense	probably benign
R9729:Exoc5	UTSW	14	49,253,086 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGTCTCTTAATGCTGCCAGC -3'
(R):5'- CATTCTTGTACACGCATTAGTGC -3'

Sequencing Primer
(F):5'- GCGAAATCACACATTTCCAGTACAGG -3'
(R):5'- TTGCTGGGAATGAGCTACACCAC -3'

Posted On

2015-06-20