Mutagenetix > Incidental Mutation

Incidental Mutation 'R7982:Exoc8'

651273

Institutional Source

Beutler Lab

Gene Symbol

Exoc8

Ensembl Gene

ENSMUSG00000074030

Gene Name

exocyst complex component 8

Synonyms

SEC84, EXO84, Exo84p

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7982 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

124893108-124897705 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 124896410 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 406 (V406E)

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: V406E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000095915
Gene: ENSMUSG00000074030
AA Change: V406E

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb6	A	G	1: 75,173,640	S625P	probably damaging	Het
Actl6b	A	G	5: 137,563,162	N142S	probably benign	Het
Ank1	A	T	8: 23,119,381	D1363V	probably damaging	Het
Aox4	A	C	1: 58,257,241	L1032F	possibly damaging	Het
Bcl2l15	T	C	3: 103,832,842	M4T	probably damaging	Het
Cand1	A	T	10: 119,216,473	S242R	probably damaging	Het
Cant1	A	T	11: 118,410,142	V229D	probably benign	Het
Ccdc117	A	G	11: 5,531,460	S224P	possibly damaging	Het
Cdc42ep4	T	C	11: 113,728,576	R330G	possibly damaging	Het
Cep164	T	C	9: 45,778,864	E527G	probably benign	Het
Cfap58	A	G	19: 47,974,567	D472G	probably benign	Het
Cln6	A	C	9: 62,849,168	K198T	possibly damaging	Het
Col4a4	G	A	1: 82,571,441		probably benign	Het
Cyp1b1	T	C	17: 79,710,490	Y412C	probably damaging	Het
Dhx30	A	T	9: 110,085,456	L991Q	probably damaging	Het
Dst	C	T	1: 34,182,540	T2475I	possibly damaging	Het
Fam214b	T	C	4: 43,034,483	T371A	probably damaging	Het
Grk6	T	A	13: 55,451,706	C201S	probably damaging	Het
Helz	T	C	11: 107,626,630	V664A	possibly damaging	Het
Hsd17b11	A	G	5: 104,003,224	C215R	possibly damaging	Het
Hspb11	T	C	4: 107,275,283	V89A	probably benign	Het
Kbtbd12	T	C	6: 88,618,634	I71M	possibly damaging	Het
Khdc1a	A	T	1: 21,350,906	H105L	probably benign	Het
Klf6	T	A	13: 5,861,823	L62Q	probably damaging	Het
Mc1r	A	G	8: 123,408,140	R211G	probably damaging	Het
Nt5m	T	A	11: 59,848,331	W68R	possibly damaging	Het
Nufip1	T	C	14: 76,126,239	V301A	probably benign	Het
Olfr104-ps	T	G	17: 37,362,611	F165V	probably damaging	Het
Olfr1535	T	C	13: 21,555,966	N19D	probably benign	Het
Olfr209	A	G	16: 59,361,564	I218T	probably benign	Het
Olfr455	T	A	6: 42,538,291	T244S	probably damaging	Het
Olfr561	A	T	7: 102,775,103	D193V	probably damaging	Het
Ostn	T	C	16: 27,321,439		probably null	Het
Pcdhb6	C	T	18: 37,334,220	R65*	probably null	Het
Pds5b	T	C	5: 150,769,941	I706T	probably damaging	Het
Pgm1	T	G	5: 64,100,959	Y96D	probably damaging	Het
Pkd1l2	G	A	8: 117,051,187	T875I	possibly damaging	Het
Poc1b	A	G	10: 99,164,902	S355G	probably benign	Het
Ppp6r1	A	C	7: 4,643,158	D181E	probably benign	Het
Pstpip2	G	A	18: 77,879,373	V325M	probably benign	Het
Rras2	A	T	7: 114,058,951	V92D	probably damaging	Het
Rsf1	CGGC	CGGCGGCGGGGGC	7: 97,579,932		probably benign	Het
Ryr3	GTCTTCTTCTTCTTCTTC	GTCTTCTTCTTCTTC	2: 112,669,249		probably benign	Het
Stac2	T	A	11: 98,042,553	M188L	probably benign	Het
Synrg	G	A	11: 84,019,818	D859N	probably damaging	Het
Tarbp1	A	T	8: 126,444,301	S987T	probably damaging	Het
Tbx20	C	A	9: 24,773,924		probably benign	Het
Trim30d	G	T	7: 104,472,610	N309K	possibly damaging	Het
Ttc16	C	T	2: 32,775,035		probably benign	Het
Ttc34	T	A	4: 154,861,418	I303N	possibly damaging	Het
Ubr4	T	C	4: 139,428,208		probably null	Het
Uros	A	T	7: 133,692,549	S168T	unknown	Het
Vmn2r6	C	T	3: 64,559,820	G86D	probably damaging	Het
Ybx2	C	T	11: 69,940,622	T295I	possibly damaging	Het
Zbed5	T	A	5: 129,900,480	C146S	possibly damaging	Het
Zcchc2	G	A	1: 106,031,171	C1124Y	probably damaging	Het
Zfp626	G	A	7: 27,810,750		probably null	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
R6602:Exoc8	UTSW	8	124896411	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
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'- GCAAAGTCCGTCTCAAACTCTC -3'
(R):5'- ATGTTTGTATTGCACAGAGGGAC -3'

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

Posted On

2020-09-15