Mutagenetix > Incidental Mutation

Incidental Mutation 'R7246:Exoc8'

563549

Institutional Source

Beutler Lab

Gene Symbol

Exoc8

Ensembl Gene

ENSMUSG00000074030

Gene Name

exocyst complex component 8

Synonyms

SEC84, EXO84, Exo84p

MMRRC Submission

045309-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7246 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

125619847-125624444 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 125623156 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 404 (R404*)

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 null
Transcript: ENSMUST00000098312
AA Change: R404*

SMART Domains

Protein: ENSMUSP00000095915
Gene: ENSMUSG00000074030
AA Change: R404*

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: 98.7%

Validation Efficiency

97% (74/76)

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
4921524L21Rik	T	A	18: 6,635,902 (GRCm39)	S318R	probably damaging	Het
Abce1	A	T	8: 80,429,698 (GRCm39)	N74K	probably damaging	Het
Akr1b7	T	A	6: 34,392,404 (GRCm39)	D72E	probably benign	Het
Amer3	T	A	1: 34,625,809 (GRCm39)	I16N	possibly damaging	Het
Atp6v0d1	T	C	8: 106,257,606 (GRCm39)	N108D	probably damaging	Het
Avpr1b	T	C	1: 131,528,008 (GRCm39)	V177A	probably damaging	Het
B020011L13Rik	A	T	1: 117,728,969 (GRCm39)	K159*	probably null	Het
Bpifb1	T	C	2: 154,049,012 (GRCm39)	L172P	probably damaging	Het
Brca1	G	A	11: 101,414,204 (GRCm39)	T1310I	probably benign	Het
C130074G19Rik	C	A	1: 184,615,166 (GRCm39)	R8L	probably damaging	Het
Ccdc178	T	C	18: 22,242,811 (GRCm39)	H268R	possibly damaging	Het
Cdc42ep5	A	G	7: 4,154,473 (GRCm39)	V105A	possibly damaging	Het
Cntn4	T	C	6: 106,483,180 (GRCm39)	L245P	probably damaging	Het
Crtac1	T	C	19: 42,276,365 (GRCm39)	E521G	probably benign	Het
Cts7	T	A	13: 61,503,394 (GRCm39)	N190I	probably damaging	Het
Cul7	A	G	17: 46,972,993 (GRCm39)	E1368G	probably benign	Het
Dhrs7l	A	T	12: 72,666,266 (GRCm39)	M89K	possibly damaging	Het
Dpp10	G	A	1: 123,262,106 (GRCm39)	P759S	probably damaging	Het
Etf1	A	G	18: 35,064,964 (GRCm39)	S11P	unknown	Het
Exd2	G	T	12: 80,527,309 (GRCm39)	L167F	probably damaging	Het
Fat2	T	C	11: 55,187,208 (GRCm39)	T1213A	probably benign	Het
Fgfr2	T	C	7: 129,844,136 (GRCm39)			Het
Gtf3c1	T	A	7: 125,268,266 (GRCm39)			Het
Id2	T	A	12: 25,145,820 (GRCm39)	I64F	probably damaging	Het
Idh3a	G	T	9: 54,499,756 (GRCm39)	A75S	probably damaging	Het
Ift70a2	A	G	2: 75,808,023 (GRCm39)	L163P	probably damaging	Het
Itgb8	C	G	12: 119,131,785 (GRCm39)	G620A	probably damaging	Het
Itih5	T	A	2: 10,191,873 (GRCm39)		probably null	Het
Lamtor5	A	T	3: 107,189,336 (GRCm39)	D124V	probably damaging	Het
Mast4	T	C	13: 102,930,511 (GRCm39)	E439G	probably damaging	Het
Meltf	T	G	16: 31,713,680 (GRCm39)	L641R	probably damaging	Het
Mesd	G	T	7: 83,541,420 (GRCm39)		probably benign	Het
Nfia	C	T	4: 97,953,579 (GRCm39)	P439L	probably damaging	Het
Nptx1	A	T	11: 119,435,416 (GRCm39)		probably null	Het
Or1o3	A	T	17: 37,573,905 (GRCm39)	C217S	probably benign	Het
Or2j6	T	A	7: 139,980,061 (GRCm39)	R299S	probably benign	Het
Or5t7	A	G	2: 86,507,633 (GRCm39)	F15L	probably benign	Het
Or7g29	G	A	9: 19,286,761 (GRCm39)	Q139*	probably null	Het
Pdss2	T	A	10: 43,248,172 (GRCm39)	H225Q	probably benign	Het
Pik3r5	C	A	11: 68,383,769 (GRCm39)	S529R	probably benign	Het
Plxna2	T	C	1: 194,326,590 (GRCm39)	S175P	possibly damaging	Het
Pom121l12	T	A	11: 14,549,551 (GRCm39)	W86R	probably benign	Het
Ppid	C	T	3: 79,498,740 (GRCm39)		probably benign	Het
Pramel7	T	A	2: 87,322,509 (GRCm39)	D85V	probably damaging	Het
Prune2	C	T	19: 17,098,732 (GRCm39)	T1412I	probably damaging	Het
Ptprd	T	C	4: 76,046,913 (GRCm39)	Y204C	probably damaging	Het
Rasgrp1	G	A	2: 117,168,835 (GRCm39)	R48*	probably null	Het
Rbks	A	G	5: 31,805,127 (GRCm39)	S246P	possibly damaging	Het
Rnf113a2	G	T	12: 84,464,451 (GRCm39)	M114I	possibly damaging	Het
Rsf1	GCGGCGGCG	GCGGCGGCGCCGGCGGCG	7: 97,229,129 (GRCm39)		probably benign	Het
Scara3	A	G	14: 66,169,093 (GRCm39)	S175P	probably damaging	Het
Slc4a4	T	A	5: 89,270,262 (GRCm39)	L261Q	probably damaging	Het
Sparcl1	T	C	5: 104,233,023 (GRCm39)	I593V	probably benign	Het
Suclg1	C	T	6: 73,253,696 (GRCm39)	H115Y	unknown	Het
Syde2	T	A	3: 145,694,510 (GRCm39)	C253S	probably benign	Het
Tecrl	A	T	5: 83,427,182 (GRCm39)	I322N	probably damaging	Het
Tesmin	C	T	19: 3,456,965 (GRCm39)	A428V	probably damaging	Het
Thbd	T	A	2: 148,248,405 (GRCm39)	T488S	probably benign	Het
Tln2	A	T	9: 67,170,261 (GRCm39)	V876E	probably damaging	Het
Ttll13	A	C	7: 79,903,911 (GRCm39)	K280Q	probably damaging	Het
Unc13b	T	A	4: 43,172,910 (GRCm39)	I1246K	unknown	Het
Usp47	T	A	7: 111,715,116 (GRCm39)			Het
Vmn1r192	C	T	13: 22,371,944 (GRCm39)	R92Q	probably damaging	Het
Vmn2r111	T	C	17: 22,767,695 (GRCm39)	T601A	probably damaging	Het
Vmn2r51	A	G	7: 9,836,428 (GRCm39)	F118L	probably benign	Het
Vmn2r74	T	A	7: 85,605,173 (GRCm39)	I492L	probably benign	Het
Vmn2r93	C	T	17: 18,546,012 (GRCm39)	T628I	possibly damaging	Het
Vps13d	C	T	4: 144,882,620 (GRCm39)	R991K		Het
Wdr5b	T	C	16: 35,862,306 (GRCm39)	S142P	probably damaging	Het
Zfp428	G	T	7: 24,215,069 (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
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
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'- CTGCAAAGTCCGTCTCAAAC -3'
(R):5'- TGTTTGTATTGCACAGAGGGAC -3'

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

Posted On

2019-06-26