Mutagenetix > Incidental Mutation

Incidental Mutation 'R6602:Exoc8'

525360

Institutional Source

Beutler Lab

Gene Symbol

Exoc8

Ensembl Gene

ENSMUSG00000074030

Gene Name

exocyst complex component 8

Synonyms

SEC84, EXO84, Exo84p

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R6602 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

124893108-124897705 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 124896411 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 406 (V406L)

Ref Sequence

ENSEMBL: ENSMUSP00000095915 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034467] [ENSMUST00000098312]

AlphaFold

Q6PGF7

Predicted Effect

probably benign
Transcript: ENSMUST00000034467

SMART Domains

Protein: ENSMUSP00000034467
Gene: ENSMUSG00000031986

Domain	Start	End	E-Value	Type
SprT	44	213	4.39e-72	SMART
low complexity region	383	405	N/A	INTRINSIC
low complexity region	442	462	N/A	INTRINSIC
Blast:ZnF_Rad18	463	485	8e-8	BLAST

Predicted Effect

probably damaging
Transcript: ENSMUST00000098312
AA Change: V406L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000095915
Gene: ENSMUSG00000074030
AA Change: V406L

Domain	Start	End	E-Value	Type
Pfam:Vps51	13	99	7.1e-21	PFAM
PH	174	275	2.07e-6	SMART
low complexity region	279	294	N/A	INTRINSIC
low complexity region	304	319	N/A	INTRINSIC
Pfam:Exo84_C	326	531	6.8e-59	PFAM
low complexity region	633	646	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000213052

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.6%

Validation Efficiency

100% (43/43)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a component of the exocyst complex, an evolutionarily conserved multi-protein complex that plays a critical role in vesicular trafficking and the secretory pathway by targeting post-Golgi vesicles to the plasma membrane. This protein is a target of activated Ral subfamily of GTPases and thereby regulates exocytosis by tethering vesicles to the plasma membrane. Mutations in this gene may be related to Joubert syndrome. [provided by RefSeq, Sep 2016]

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022B05Rik	A	G	8: 124,639,254	L250P	probably damaging	Het
4921539E11Rik	T	C	4: 103,255,572	H12R	probably benign	Het
Abca4	A	C	3: 122,138,501	Q268P	probably benign	Het
Adgrf5	T	A	17: 43,450,304	N963K	probably benign	Het
Arl10	A	G	13: 54,578,937	D176G	probably damaging	Het
Btnl1	T	A	17: 34,385,748	M501K	probably damaging	Het
Ccdc162	G	T	10: 41,615,980	T1079K	probably benign	Het
Cd163	T	A	6: 124,311,635	W342R	probably damaging	Het
Cd70	T	C	17: 57,149,562	S14G	probably benign	Het
Chil4	C	A	3: 106,210,590	K121N	probably benign	Het
Csf1r	A	G	18: 61,110,425	D171G	possibly damaging	Het
Cyp4a31	A	T	4: 115,569,707		probably null	Het
D3Ertd254e	G	T	3: 36,164,855	L341F	possibly damaging	Het
Dapk1	A	T	13: 60,749,204	I746F	probably benign	Het
Erbb4	A	G	1: 68,370,503	S192P	probably damaging	Het
Fam168b	C	A	1: 34,836,741	G21V	probably damaging	Het
Greb1	A	T	12: 16,709,440	V652E	probably benign	Het
Ift88	A	G	14: 57,507,259	S745G	probably benign	Het
Il18bp	T	C	7: 102,016,030		probably benign	Het
Il6st	A	G	13: 112,504,413	T908A	probably damaging	Het
Klk11	A	G	7: 43,774,774	S6G	probably benign	Het
Mastl	T	C	2: 23,132,677	Y678C	probably benign	Het
Msra	A	T	14: 64,123,339	H184Q	probably benign	Het
Muc16	A	C	9: 18,609,476		probably null	Het
Myo3a	T	G	2: 22,577,787	L351R	probably damaging	Het
Npy5r	GCTGTGAAACACTG	GCTG	8: 66,681,540		probably null	Het
Olfr463	T	C	11: 87,893,652	T91A	probably benign	Het
Olfr830	A	G	9: 18,875,849	D174G	possibly damaging	Het
Olfr867	C	T	9: 20,055,046	R139Q	probably benign	Het
Pcdhb18	A	T	18: 37,490,480	I288F	probably damaging	Het
Pitpna	T	G	11: 75,620,315	V238G	possibly damaging	Het
Ppfibp1	T	A	6: 146,978,221	V81E	possibly damaging	Het
Rab11fip2	T	A	19: 59,942,856	T49S	probably damaging	Het
Rsl24d1	T	A	9: 73,113,510	I3N	possibly damaging	Het
Rtn1	T	C	12: 72,219,318	N161S	probably damaging	Het
Shank1	A	G	7: 44,352,336	I1151V	probably benign	Het
Slc34a3	A	G	2: 25,229,209	S550P	probably damaging	Het
Slc4a1ap	A	G	5: 31,527,641	H207R	probably damaging	Het
Sphkap	T	A	1: 83,275,758	K1423N	possibly damaging	Het
Ttn	A	G	2: 76,881,753		probably benign	Het
Ubqln5	T	A	7: 104,129,489	S43C	probably benign	Het
Vps13d	G	A	4: 145,103,664		probably benign	Het
Wwp1	A	T	4: 19,641,816	V413D	probably damaging	Het

Other mutations in Exoc8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00549:Exoc8	APN	8	124896872	missense	probably damaging	1.00
IGL01444:Exoc8	APN	8	124895841	missense	possibly damaging	0.84
IGL01655:Exoc8	APN	8	124896228	missense	probably benign	0.03
IGL01881:Exoc8	APN	8	124896351	missense	probably damaging	1.00
IGL02952:Exoc8	APN	8	124897536	missense	probably benign	0.02
R0683:Exoc8	UTSW	8	124895633	missense	probably damaging	0.99
R2051:Exoc8	UTSW	8	124895480	missense	probably benign	0.15
R2140:Exoc8	UTSW	8	124897415	missense	possibly damaging	0.84
R2197:Exoc8	UTSW	8	124895738	missense	probably damaging	1.00
R2209:Exoc8	UTSW	8	124896179	nonsense	probably null
R4659:Exoc8	UTSW	8	124897532	missense	probably damaging	1.00
R4707:Exoc8	UTSW	8	124897470	missense	possibly damaging	0.93
R4724:Exoc8	UTSW	8	124897250	missense	probably benign
R4764:Exoc8	UTSW	8	124897575	missense	possibly damaging	0.94
R5159:Exoc8	UTSW	8	124896213	missense	probably benign	0.00
R5976:Exoc8	UTSW	8	124896653	missense	probably benign	0.02
R6566:Exoc8	UTSW	8	124896044	missense	probably damaging	1.00
R7246:Exoc8	UTSW	8	124896417	nonsense	probably null
R7341:Exoc8	UTSW	8	124896581	missense	probably damaging	1.00
R7440:Exoc8	UTSW	8	124895781	missense	probably benign
R7745:Exoc8	UTSW	8	124895819	missense	probably benign
R7982:Exoc8	UTSW	8	124896410	missense	probably damaging	1.00
R8499:Exoc8	UTSW	8	124897110	missense	probably benign	0.01
R8504:Exoc8	UTSW	8	124895970	missense	probably benign	0.17
R8984:Exoc8	UTSW	8	124896030	missense	probably benign	0.07
Z1176:Exoc8	UTSW	8	124896666	missense	possibly damaging	0.52
Z1177:Exoc8	UTSW	8	124897186	missense	possibly damaging	0.49

Predicted Primers

PCR Primer
(F):5'- AAGTCCGTCTCAAACTCTCTCG -3'
(R):5'- ATGTTTGTATTGCACAGAGGGAC -3'

Sequencing Primer
(F):5'- AACTCTCTCGCGGTCTCTAGGAG -3'
(R):5'- TATTGCACAGAGGGACTTTGAG -3'

Posted On

2018-06-22