Mutagenetix > Incidental Mutation

Incidental Mutation 'R8499:Exoc8'

658425

Institutional Source

Beutler Lab

Gene Symbol

Exoc8

Ensembl Gene

ENSMUSG00000074030

Gene Name

exocyst complex component 8

Synonyms

SEC84, EXO84, Exo84p

MMRRC Submission

067941-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8499 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

125619847-125624444 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 125623849 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 173 (Y173H)

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 benign
Transcript: ENSMUST00000098312
AA Change: Y173H

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000095915
Gene: ENSMUSG00000074030
AA Change: Y173H

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: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (49/49)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam25	A	G	8: 41,208,189 (GRCm39)	D485G	probably damaging	Het
Ap4b1	G	A	3: 103,728,018 (GRCm39)	R344Q	probably damaging	Het
Apol7c	G	T	15: 77,410,280 (GRCm39)	P222Q	possibly damaging	Het
Atf6b	T	C	17: 34,869,796 (GRCm39)	L272P	probably damaging	Het
Atp11b	G	T	3: 35,864,854 (GRCm39)	R559I	probably benign	Het
Bhmt	T	A	13: 93,756,600 (GRCm39)	I343F	probably benign	Het
Btbd7	A	T	12: 102,754,631 (GRCm39)	F712I	probably damaging	Het
Card14	T	C	11: 119,222,070 (GRCm39)	L455P	probably benign	Het
Cast	A	T	13: 74,946,835 (GRCm39)	H26Q	probably benign	Het
Clcn1	A	G	6: 42,284,133 (GRCm39)	N567S	probably damaging	Het
Cnot6l	A	T	5: 96,225,176 (GRCm39)	W506R	probably damaging	Het
Dynap	T	A	18: 70,374,044 (GRCm39)	I161L	unknown	Het
Eif4g3	A	C	4: 137,893,239 (GRCm39)	T996P	probably damaging	Het
Fbll1	C	T	11: 35,688,907 (GRCm39)	V119M	probably damaging	Het
Fbxw22	A	T	9: 109,214,068 (GRCm39)	F249L	probably benign	Het
Fxyd1	C	A	7: 30,752,529 (GRCm39)		probably benign	Het
Grhl3	C	A	4: 135,276,549 (GRCm39)		probably null	Het
Grk4	A	G	5: 34,902,690 (GRCm39)	E414G	possibly damaging	Het
H2bc8	T	A	13: 23,755,880 (GRCm39)	S92T	probably benign	Het
H2-Q5	A	G	17: 35,613,820 (GRCm39)	D123G		Het
H2-Q5	C	T	17: 35,613,945 (GRCm39)	R165*	probably null	Het
Hgf	A	T	5: 16,771,854 (GRCm39)	E160D	probably damaging	Het
Ifi211	T	C	1: 173,733,086 (GRCm39)	I192V	probably benign	Het
Klk1b22	T	C	7: 43,762,144 (GRCm39)	F7L	probably benign	Het
Lcmt1	C	A	7: 123,029,371 (GRCm39)	T331N	probably benign	Het
Lrrc36	A	T	8: 106,176,168 (GRCm39)	T181S	possibly damaging	Het
Ltbp3	T	A	19: 5,798,712 (GRCm39)	S520T	probably benign	Het
Nacc1	A	T	8: 85,403,345 (GRCm39)	C177S	probably damaging	Het
Nedd4l	T	A	18: 65,342,728 (GRCm39)	V888E	probably damaging	Het
Oc90	C	T	15: 65,753,405 (GRCm39)	G305S	probably damaging	Het
Or51a25	A	G	7: 102,372,932 (GRCm39)	V255A	probably damaging	Het
Or52i2	T	A	7: 102,320,012 (GRCm39)	I295N	probably damaging	Het
Pappa2	T	A	1: 158,764,092 (GRCm39)	D473V	probably damaging	Het
Pou2f2	C	A	7: 24,799,623 (GRCm39)	G117C	probably damaging	Het
Prkci	A	G	3: 31,079,366 (GRCm39)	H68R	probably damaging	Het
Pygm	A	G	19: 6,440,392 (GRCm39)	K479E	probably damaging	Het
Qpct	A	G	17: 79,384,996 (GRCm39)	D212G	probably damaging	Het
Sh3glb2	A	T	2: 30,249,216 (GRCm39)	M1K	probably null	Het
Slc22a5	A	G	11: 53,758,469 (GRCm39)	S444P	probably damaging	Het
Snai3	G	A	8: 123,183,144 (GRCm39)	H134Y	probably benign	Het
Synpo	T	C	18: 60,736,044 (GRCm39)	D395G	probably damaging	Het
Tmem63c	C	T	12: 87,119,738 (GRCm39)	T344I	probably damaging	Het
Tnfsf14	A	G	17: 57,497,534 (GRCm39)	Y233H		Het
Ttn	A	G	2: 76,749,335 (GRCm39)	F3905L	probably benign	Het
Tubgcp5	T	A	7: 55,454,363 (GRCm39)	H219Q	possibly damaging	Het
Usp16	C	T	16: 87,271,536 (GRCm39)	T364M	possibly damaging	Het
Vmn1r59	C	T	7: 5,457,750 (GRCm39)	M3I	probably benign	Het
Vmn2r61	T	A	7: 41,949,700 (GRCm39)	C707S	probably damaging	Het
Vps13b	T	C	15: 35,841,466 (GRCm39)	S2499P	probably damaging	Het
Ythdf3	A	G	3: 16,259,179 (GRCm39)	E442G	possibly damaging	Het
Zfp1001	T	C	2: 150,204,907 (GRCm39)	S74P	probably benign	Het

Other mutations in Exoc8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00549:Exoc8	APN	8	125,623,611 (GRCm39)	missense	probably damaging	1.00
IGL01444:Exoc8	APN	8	125,622,580 (GRCm39)	missense	possibly damaging	0.84
IGL01655:Exoc8	APN	8	125,622,967 (GRCm39)	missense	probably benign	0.03
IGL01881:Exoc8	APN	8	125,623,090 (GRCm39)	missense	probably damaging	1.00
IGL02952:Exoc8	APN	8	125,624,275 (GRCm39)	missense	probably benign	0.02
R0683:Exoc8	UTSW	8	125,622,372 (GRCm39)	missense	probably damaging	0.99
R2051:Exoc8	UTSW	8	125,622,219 (GRCm39)	missense	probably benign	0.15
R2140:Exoc8	UTSW	8	125,624,154 (GRCm39)	missense	possibly damaging	0.84
R2197:Exoc8	UTSW	8	125,622,477 (GRCm39)	missense	probably damaging	1.00
R2209:Exoc8	UTSW	8	125,622,918 (GRCm39)	nonsense	probably null
R4659:Exoc8	UTSW	8	125,624,271 (GRCm39)	missense	probably damaging	1.00
R4707:Exoc8	UTSW	8	125,624,209 (GRCm39)	missense	possibly damaging	0.93
R4724:Exoc8	UTSW	8	125,623,989 (GRCm39)	missense	probably benign
R4764:Exoc8	UTSW	8	125,624,314 (GRCm39)	missense	possibly damaging	0.94
R5159:Exoc8	UTSW	8	125,622,952 (GRCm39)	missense	probably benign	0.00
R5976:Exoc8	UTSW	8	125,623,392 (GRCm39)	missense	probably benign	0.02
R6566:Exoc8	UTSW	8	125,622,783 (GRCm39)	missense	probably damaging	1.00
R6602:Exoc8	UTSW	8	125,623,150 (GRCm39)	missense	probably damaging	1.00
R7246:Exoc8	UTSW	8	125,623,156 (GRCm39)	nonsense	probably null
R7341:Exoc8	UTSW	8	125,623,320 (GRCm39)	missense	probably damaging	1.00
R7440:Exoc8	UTSW	8	125,622,520 (GRCm39)	missense	probably benign
R7745:Exoc8	UTSW	8	125,622,558 (GRCm39)	missense	probably benign
R7982:Exoc8	UTSW	8	125,623,149 (GRCm39)	missense	probably damaging	1.00
R8504:Exoc8	UTSW	8	125,622,709 (GRCm39)	missense	probably benign	0.17
R8984:Exoc8	UTSW	8	125,622,769 (GRCm39)	missense	probably benign	0.07
Z1176:Exoc8	UTSW	8	125,623,405 (GRCm39)	missense	possibly damaging	0.52
Z1177:Exoc8	UTSW	8	125,623,925 (GRCm39)	missense	possibly damaging	0.49

Predicted Primers

PCR Primer
(F):5'- TCTTTGACGTTGACCACCGC -3'
(R):5'- AATGTACCAGCTGAGCCAC -3'

Sequencing Primer
(F):5'- GTTGACCACCGCCAGGC -3'
(R):5'- AGCAGCCTGGAGAGCATC -3'

Posted On

2021-01-18