Mutagenetix > Incidental Mutation

Incidental Mutation 'R6036:Exoc5'

479230

Institutional Source

Beutler Lab

Gene Symbol

Exoc5

Ensembl Gene

ENSMUSG00000061244

Gene Name

exocyst complex component 5

Synonyms

Sec10l1, SEC10, PRO1912

MMRRC Submission

043257-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.947) question?

Stock #

R6036 (G1)

Quality Score

220.009

Status

Not validated

Chromosome

Chromosomal Location

49004090-49066653 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 49014322 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 591 (T591A)

Ref Sequence

ENSEMBL: ENSMUSP00000124012 (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

possibly damaging
Transcript: ENSMUST00000161504
AA Change: T591A

PolyPhen 2 Score 0.817 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000124012
Gene: ENSMUSG00000061244
AA Change: T591A

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000162175
AA Change: T656A

PolyPhen 2 Score 0.704 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000125434
Gene: ENSMUSG00000061244
AA Change: T656A

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

Coding Region Coverage

1x: 99.8%
3x: 99.0%
10x: 92.6%
20x: 72.9%

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi3	T	C	11: 95,832,858		probably benign	Het
Ago1	C	T	4: 126,443,228	R228H	probably damaging	Het
Alpk3	G	A	7: 81,093,257	V941M	probably benign	Het
Ano4	A	G	10: 88,982,265	W588R	possibly damaging	Het
Atp6v1a	A	G	16: 44,098,831	Y464H	probably benign	Het
Barx2	A	T	9: 31,913,008	D28E	probably damaging	Het
Cabp5	A	T	7: 13,401,335	M67L	probably damaging	Het
Col10a1	A	G	10: 34,395,282	T417A	probably benign	Het
Dnah2	C	T	11: 69,458,920	R2399Q	probably benign	Het
Eif4enif1	T	C	11: 3,239,420	S227P	probably damaging	Het
Erv3	G	A	2: 131,856,005	H145Y	possibly damaging	Het
F5	A	T	1: 164,184,996	E493V	probably damaging	Het
Gm8444	G	T	15: 81,843,593		probably benign	Het
Gria4	T	A	9: 4,537,646	I221L	probably benign	Het
Hc	T	C	2: 35,039,684	T249A	probably benign	Het
Herc2	A	G	7: 56,068,053	T48A	probably benign	Het
Hist1h2bl	A	T	13: 21,715,978	S56T	probably damaging	Het
Hp	A	G	8: 109,576,774		probably null	Het
Ifna15	T	G	4: 88,558,073	D58A	possibly damaging	Het
Kcnj1	A	T	9: 32,397,125	M262L	probably benign	Het
Krt83	A	C	15: 101,487,531	I320S	possibly damaging	Het
Megf10	A	G	18: 57,242,727	N242D	probably damaging	Het
Nup155	A	G	15: 8,128,411	T451A	probably benign	Het
Olfr1277	C	T	2: 111,269,612	G252R	probably damaging	Het
Olfr1288	T	C	2: 111,478,988	L68P	probably damaging	Het
Olfr559	T	A	7: 102,724,485	I2F	probably benign	Het
Olfr701	A	T	7: 106,818,460	I126F	probably damaging	Het
Olfr930	A	G	9: 38,930,920	I250V	probably damaging	Het
Pdzd8	G	A	19: 59,305,209	P403S	probably damaging	Het
Piezo2	G	A	18: 63,114,948	Q494*	probably null	Het
Plag1	T	C	4: 3,904,618	E191G	possibly damaging	Het
Pou4f2	A	T	8: 78,435,474	S167T	probably damaging	Het
Scd4	G	A	19: 44,344,792	D319N	probably damaging	Het
Senp2	A	T	16: 22,028,558	R279*	probably null	Het
Sh3rf3	G	A	10: 58,813,984	G137D	probably benign	Het
Simc1	C	T	13: 54,524,621	P261S	probably benign	Het
Slc26a1	T	A	5: 108,673,570	D151V	probably damaging	Het
Snx29	A	G	16: 11,738,437		probably null	Het
Stard9	C	T	2: 120,700,075	A2271V	probably benign	Het
Stat6	A	G	10: 127,655,444	N485D	possibly damaging	Het
Tpcn2	T	C	7: 145,268,869	T280A	possibly damaging	Het
Ttc23	A	G	7: 67,711,366	I378V	possibly damaging	Het
Ttc29	A	G	8: 78,325,576	D362G	probably benign	Het
Ttll7	A	G	3: 146,940,162	I592V	probably benign	Het
Ugt3a1	A	T	15: 9,306,086	H107L	probably benign	Het
Vmn1r70	A	G	7: 10,633,903	Q87R	probably damaging	Het
Wdfy4	G	T	14: 33,146,990	S360R	probably damaging	Het
Zfp780b	A	G	7: 27,963,568	Y521H	probably damaging	Het

Other mutations in Exoc5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01010:Exoc5	APN	14	49037755	missense	probably damaging	1.00
IGL01473:Exoc5	APN	14	49014294	missense	possibly damaging	0.83
IGL01599:Exoc5	APN	14	49034964	missense	probably benign	0.00
IGL01702:Exoc5	APN	14	49015615	nonsense	probably null
IGL02173:Exoc5	APN	14	49034801	splice site	probably benign
IGL02211:Exoc5	APN	14	49014210	missense	probably damaging	1.00
IGL02874:Exoc5	APN	14	49051446	missense	probably benign	0.02
IGL02968:Exoc5	APN	14	49033269	critical splice donor site	probably null
IGL03167:Exoc5	APN	14	49051345	missense	probably damaging	1.00
IGL03207:Exoc5	APN	14	49033375	missense	probably benign
PIT4260001:Exoc5	UTSW	14	49048765	missense	probably benign	0.01
R0139:Exoc5	UTSW	14	49036036	missense	probably damaging	1.00
R0594:Exoc5	UTSW	14	49036087	splice site	probably benign
R0945:Exoc5	UTSW	14	49039342	splice site	probably benign
R1968:Exoc5	UTSW	14	49034890	missense	probably benign	0.27
R2082:Exoc5	UTSW	14	49015587	missense	probably benign	0.07
R2186:Exoc5	UTSW	14	49015479	missense	probably benign	0.08
R2356:Exoc5	UTSW	14	49016281	missense	probably benign	0.00
R3419:Exoc5	UTSW	14	49023278	missense	probably damaging	1.00
R3743:Exoc5	UTSW	14	49014349	missense	probably benign	0.00
R3743:Exoc5	UTSW	14	49033407	nonsense	probably null
R3870:Exoc5	UTSW	14	49019396	splice site	probably benign
R4273:Exoc5	UTSW	14	49015480	nonsense	probably null
R4794:Exoc5	UTSW	14	49048900	critical splice acceptor site	probably null
R4853:Exoc5	UTSW	14	49052369	small deletion	probably benign
R4864:Exoc5	UTSW	14	49052382	missense	probably benign	0.00
R4883:Exoc5	UTSW	14	49052364	missense	probably damaging	1.00
R5098:Exoc5	UTSW	14	49048847	missense	possibly damaging	0.90
R5965:Exoc5	UTSW	14	49034931	missense	probably damaging	1.00
R6036:Exoc5	UTSW	14	49014322	missense	possibly damaging	0.82
R6820:Exoc5	UTSW	14	49048930	splice site	probably null
R8473:Exoc5	UTSW	14	49019403	missense	probably null	0.98
R8987:Exoc5	UTSW	14	49015529	missense	probably damaging	1.00
R9229:Exoc5	UTSW	14	49014253	nonsense	probably null
R9250:Exoc5	UTSW	14	49019458	missense	probably damaging	1.00
R9340:Exoc5	UTSW	14	49048840	missense	probably damaging	0.98
R9381:Exoc5	UTSW	14	49037737	missense	probably benign

Predicted Primers

Posted On

2017-06-26