Mutagenetix > Incidental Mutation

Incidental Mutation 'R4659:Exoc8'

352684

Institutional Source

Beutler Lab

Gene Symbol

Exoc8

Ensembl Gene

ENSMUSG00000074030

Gene Name

exocyst complex component 8

Synonyms

SEC84, EXO84, Exo84p

MMRRC Submission

041919-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4659 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

125619847-125624444 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 125624271 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 32 (D32G)

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: D32G

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

SMART Domains

Protein: ENSMUSP00000095915
Gene: ENSMUSG00000074030
AA Change: D32G

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: ENSMUST00000212724

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000213052

Meta Mutation Damage Score

0.2079

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.4%

Validation Efficiency

96% (74/77)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc9	C	A	6: 142,618,321 (GRCm39)		probably null	Het
Ankrd22	C	T	19: 34,102,968 (GRCm39)	V118I	probably damaging	Het
Aoc1	A	T	6: 48,883,010 (GRCm39)	E295D	probably benign	Het
Arap2	T	C	5: 62,811,469 (GRCm39)	N1114S	possibly damaging	Het
AU021092	C	G	16: 5,030,011 (GRCm39)	A335P	probably damaging	Het
Carhsp1	T	C	16: 8,482,129 (GRCm39)	T51A	probably benign	Het
Cdc42bpb	T	C	12: 111,306,325 (GRCm39)	D152G	probably damaging	Het
Cep70	T	A	9: 99,178,394 (GRCm39)	D497E	possibly damaging	Het
Chrm5	T	C	2: 112,310,102 (GRCm39)	N338S	probably benign	Het
Cldn8	G	A	16: 88,359,296 (GRCm39)	H210Y	probably benign	Het
Clhc1	T	A	11: 29,528,229 (GRCm39)	*586K	probably null	Het
Cplane1	G	T	15: 8,245,760 (GRCm39)		probably benign	Het
Dop1a	T	A	9: 86,384,085 (GRCm39)		probably benign	Het
Dync1h1	T	C	12: 110,595,201 (GRCm39)	F1371S	possibly damaging	Het
Eif6	A	G	2: 155,668,101 (GRCm39)	I46T	probably damaging	Het
Esco2	G	A	14: 66,064,035 (GRCm39)	T383M	possibly damaging	Het
Fam149b	G	T	14: 20,417,941 (GRCm39)	S216I	probably benign	Het
Fam219a	T	C	4: 41,521,645 (GRCm39)	D87G	probably null	Het
Fbxw26	A	T	9: 109,573,939 (GRCm39)	V71D	probably damaging	Het
Gabra4	T	A	5: 71,798,487 (GRCm39)	K164M	probably damaging	Het
Gm57858	T	C	3: 36,080,103 (GRCm39)	D218G	possibly damaging	Het
Gm8603	G	A	17: 13,737,290 (GRCm39)		noncoding transcript	Het
Gnmt	A	G	17: 47,036,892 (GRCm39)	F239S	probably damaging	Het
Gpsm1	G	A	2: 26,209,843 (GRCm39)		probably benign	Het
Jam2	G	A	16: 84,609,840 (GRCm39)	V151M	probably damaging	Het
Kcnj1	A	T	9: 32,305,444 (GRCm39)	D2V	probably benign	Het
Limch1	C	T	5: 67,184,900 (GRCm39)	R797C	probably damaging	Het
Lrrc9	T	A	12: 72,517,038 (GRCm39)	F597I	probably damaging	Het
Lrriq3	T	A	3: 154,835,090 (GRCm39)	I275N	possibly damaging	Het
Mcoln1	T	A	8: 3,560,840 (GRCm39)	S387R	probably damaging	Het
Mgst3	T	A	1: 167,204,848 (GRCm39)	Q58L	probably damaging	Het
Mical1	G	A	10: 41,362,932 (GRCm39)		probably benign	Het
Mmp3	C	A	9: 7,453,673 (GRCm39)	D431E	probably benign	Het
Mx1	T	C	16: 97,256,439 (GRCm39)		probably null	Het
Myo7a	A	G	7: 97,734,673 (GRCm39)	L607P	probably damaging	Het
Myt1l	A	G	12: 29,899,456 (GRCm39)	N153D	probably damaging	Het
Nfu1	A	T	6: 86,996,408 (GRCm39)	T120S	probably damaging	Het
Nhlrc2	T	C	19: 56,564,699 (GRCm39)	V341A	possibly damaging	Het
Notch1	T	C	2: 26,360,901 (GRCm39)	E1148G	probably damaging	Het
Nqo1	C	T	8: 108,117,676 (GRCm39)		probably null	Het
Nwd1	T	A	8: 73,421,949 (GRCm39)	D998E	probably benign	Het
Or8k18	G	A	2: 86,085,357 (GRCm39)	Q227*	probably null	Het
Oxct2a	T	C	4: 123,216,473 (GRCm39)	I303V	probably benign	Het
Parp10	A	T	15: 76,127,185 (GRCm39)	D58E	probably damaging	Het
Pcdha6	T	A	18: 37,102,292 (GRCm39)	V495E	probably damaging	Het
Pitrm1	T	A	13: 6,603,218 (GRCm39)	S88R	probably benign	Het
Pxdn	T	C	12: 30,044,552 (GRCm39)	V510A	probably benign	Het
Ranbp17	T	A	11: 33,216,288 (GRCm39)	D820V	probably damaging	Het
Sec24c	G	T	14: 20,733,212 (GRCm39)	G180C	probably damaging	Het
Serpina3n	T	C	12: 104,379,752 (GRCm39)	S382P	probably benign	Het
Sestd1	A	T	2: 77,042,843 (GRCm39)	M237K	probably null	Het
Sf3a2	T	C	10: 80,639,418 (GRCm39)	I136T	probably damaging	Het
Sh3tc2	A	G	18: 62,107,580 (GRCm39)	Y197C	probably benign	Het
Speer4b	T	C	5: 27,702,893 (GRCm39)	K204E	probably benign	Het
Speer4f1	A	C	5: 17,681,221 (GRCm39)	E33A	possibly damaging	Het
Sspo	T	A	6: 48,461,147 (GRCm39)	D3529E	probably damaging	Het
Stard13	T	C	5: 150,986,253 (GRCm39)	D419G	probably benign	Het
Tg	A	G	15: 66,545,769 (GRCm39)	S164G	possibly damaging	Het
Thap12	A	G	7: 98,359,298 (GRCm39)		probably benign	Het
Thsd1	C	A	8: 22,749,314 (GRCm39)	Y667*	probably null	Het
Tnks	A	C	8: 35,316,465 (GRCm39)	Y885D	possibly damaging	Het
Ttll3	A	G	6: 113,391,102 (GRCm39)	I896V	probably benign	Het
Txnip	T	G	3: 96,466,743 (GRCm39)	F190C	probably damaging	Het
Urb1	T	C	16: 90,573,017 (GRCm39)	D1005G	probably damaging	Het
Usp3	T	C	9: 66,434,352 (GRCm39)		probably null	Het
Usp54	G	T	14: 20,615,060 (GRCm39)	Q794K	probably damaging	Het
Xrn2	A	G	2: 146,903,394 (GRCm39)	Q798R	probably benign	Het
Zfp189	A	G	4: 49,530,342 (GRCm39)	I482V	probably benign	Het
Zfp28	A	G	7: 6,396,506 (GRCm39)	N314D	probably benign	Het
Zmym4	A	G	4: 126,842,221 (GRCm39)		probably null	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
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
R8499:Exoc8	UTSW	8	125,623,849 (GRCm39)	missense	probably benign	0.01
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'- AGGCTGCTCTTCTGCTCAG -3'
(R):5'- ACGTCAAGTCTGGTCCGTG -3'

Sequencing Primer
(F):5'- CTCAGTCAGCAGGTGGC -3'
(R):5'- ACGCGCCTTAAGACGCTG -3'

Posted On

2015-10-08