Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02316:Exoc4'

288036

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Exoc4

Ensembl Gene

ENSMUSG00000029763

Gene Name

exocyst complex component 4

Synonyms

Sec8, Sec8l1

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02316

Quality Score

Status

Chromosome

Chromosomal Location

33226025-33950914 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 33887519 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 769 (Q769R)

Ref Sequence

ENSEMBL: ENSMUSP00000051965 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000052266]

AlphaFold

O35382

Predicted Effect

probably damaging
Transcript: ENSMUST00000052266
AA Change: Q769R

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000051965
Gene: ENSMUSG00000029763
AA Change: Q769R

Domain	Start	End	E-Value	Type
Pfam:Sec8_exocyst	28	144	2.4e-21	PFAM
low complexity region	338	346	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a component of the exocyst complex, a multiple protein complex essential for targeting exocytic vesicles to specific docking sites on the plasma membrane. Though best characterized in yeast, the component proteins and functions of exocyst complex have been demonstrated to be highly conserved in higher eukaryotes. At least eight components of the exocyst complex, including this protein, are found to interact with the actin cytoskeletal remodeling and vesicle transport machinery. The complex is also essential for the biogenesis of epithelial cell surface polarity. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene display embryonic abnormatlities. Gastrulation is not completed and mesoderm formation is abnormal. Death occurs before E10.5. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akr1c13	G	T	13: 4,253,458 (GRCm39)		probably benign	Het
Arhgap26	C	T	18: 38,775,599 (GRCm39)		noncoding transcript	Het
Atp5f1b	T	C	10: 127,920,178 (GRCm39)	V108A	probably benign	Het
B230307C23Rik	G	A	16: 97,809,850 (GRCm39)	V9M	probably damaging	Het
Ccdc85c	T	A	12: 108,177,829 (GRCm39)	H321L	probably damaging	Het
Diaph3	A	T	14: 87,223,551 (GRCm39)	M321K	possibly damaging	Het
Dicer1	G	A	12: 104,668,812 (GRCm39)	A1290V	probably damaging	Het
Dnah6	G	A	6: 73,145,894 (GRCm39)	T839M	probably benign	Het
Eif3a	G	A	19: 60,760,076 (GRCm39)		probably benign	Het
Eml1	T	C	12: 108,501,018 (GRCm39)		probably benign	Het
Fam184a	T	G	10: 53,514,335 (GRCm39)	T426P	probably damaging	Het
Fsip2	C	A	2: 82,809,137 (GRCm39)	H1819N	probably benign	Het
Gm6686	T	A	17: 15,786,500 (GRCm39)		probably benign	Het
Hadha	T	C	5: 30,331,565 (GRCm39)	S464G	probably benign	Het
Ighv5-17	A	T	12: 113,822,775 (GRCm39)	C115*	probably null	Het
Jmjd6	T	C	11: 116,733,928 (GRCm39)	Y31C	possibly damaging	Het
Klrb1-ps1	G	A	6: 129,093,532 (GRCm39)		noncoding transcript	Het
Mgat1	T	C	11: 49,152,185 (GRCm39)	Y223H	probably damaging	Het
Muc4	T	C	16: 32,569,668 (GRCm39)	S243P	possibly damaging	Het
Numa1	T	C	7: 101,650,577 (GRCm39)	L69P	probably damaging	Het
Or11h6	T	C	14: 50,879,744 (GRCm39)	I2T	probably benign	Het
Or1j21	A	T	2: 36,683,632 (GRCm39)	H128L	probably damaging	Het
Or1j4	C	A	2: 36,740,294 (GRCm39)	P79T	probably damaging	Het
Or4p23	A	G	2: 88,577,187 (GRCm39)	F15S	probably damaging	Het
Pde1c	A	T	6: 56,128,336 (GRCm39)	D332E	possibly damaging	Het
Pitpnm1	A	G	19: 4,162,835 (GRCm39)	I1143V	probably benign	Het
Rsl1	T	A	13: 67,325,120 (GRCm39)		probably null	Het
Scg2	A	C	1: 79,413,398 (GRCm39)	L442V	probably damaging	Het
Sez6l	A	T	5: 112,610,828 (GRCm39)	V530E	probably damaging	Het
Ubr4	T	C	4: 139,200,489 (GRCm39)	I4655T	possibly damaging	Het
Zcwpw1	T	C	5: 137,808,272 (GRCm39)		probably benign	Het

Other mutations in Exoc4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00229:Exoc4	APN	6	33,895,334 (GRCm39)	critical splice acceptor site	probably null
IGL00433:Exoc4	APN	6	33,273,723 (GRCm39)	missense	probably damaging	1.00
IGL00833:Exoc4	APN	6	33,948,859 (GRCm39)	missense	probably damaging	1.00
IGL01339:Exoc4	APN	6	33,282,335 (GRCm39)	splice site	probably benign
IGL01559:Exoc4	APN	6	33,243,011 (GRCm39)	missense	probably damaging	0.96
IGL01812:Exoc4	APN	6	33,734,894 (GRCm39)	splice site	probably benign
IGL01926:Exoc4	APN	6	33,839,077 (GRCm39)	missense	probably damaging	1.00
IGL02270:Exoc4	APN	6	33,556,961 (GRCm39)	missense	possibly damaging	0.61
IGL02332:Exoc4	APN	6	33,226,175 (GRCm39)	critical splice donor site	probably null
IGL02668:Exoc4	APN	6	33,898,467 (GRCm39)	missense	probably benign	0.00
slacker	UTSW	6	33,735,033 (GRCm39)	missense	probably damaging	1.00
R0049:Exoc4	UTSW	6	33,273,857 (GRCm39)	splice site	probably null
R0134:Exoc4	UTSW	6	33,948,881 (GRCm39)	missense	possibly damaging	0.56
R0234:Exoc4	UTSW	6	33,839,022 (GRCm39)	missense	possibly damaging	0.89
R0234:Exoc4	UTSW	6	33,839,022 (GRCm39)	missense	possibly damaging	0.89
R0538:Exoc4	UTSW	6	33,948,998 (GRCm39)	missense	probably benign	0.09
R1033:Exoc4	UTSW	6	33,242,922 (GRCm39)	missense	probably damaging	1.00
R1067:Exoc4	UTSW	6	33,895,359 (GRCm39)	missense	possibly damaging	0.87
R1109:Exoc4	UTSW	6	33,418,951 (GRCm39)	missense	probably damaging	1.00
R1768:Exoc4	UTSW	6	33,734,985 (GRCm39)	missense	probably damaging	1.00
R2013:Exoc4	UTSW	6	33,243,026 (GRCm39)	missense	probably damaging	0.96
R2078:Exoc4	UTSW	6	33,887,522 (GRCm39)	missense	probably benign	0.06
R2114:Exoc4	UTSW	6	33,324,760 (GRCm39)	missense	possibly damaging	0.74
R2115:Exoc4	UTSW	6	33,324,760 (GRCm39)	missense	possibly damaging	0.74
R2117:Exoc4	UTSW	6	33,324,760 (GRCm39)	missense	possibly damaging	0.74
R2133:Exoc4	UTSW	6	33,887,473 (GRCm39)	missense	probably benign
R2133:Exoc4	UTSW	6	33,735,093 (GRCm39)	missense	probably benign	0.00
R2308:Exoc4	UTSW	6	33,895,503 (GRCm39)	missense	probably damaging	1.00
R3412:Exoc4	UTSW	6	33,242,910 (GRCm39)	missense	probably damaging	1.00
R3794:Exoc4	UTSW	6	33,452,932 (GRCm39)	missense	probably benign
R3885:Exoc4	UTSW	6	33,243,066 (GRCm39)	critical splice donor site	probably null
R4378:Exoc4	UTSW	6	33,792,622 (GRCm39)	missense	probably damaging	1.00
R4534:Exoc4	UTSW	6	33,254,179 (GRCm39)	missense	probably damaging	1.00
R4535:Exoc4	UTSW	6	33,254,179 (GRCm39)	missense	probably damaging	1.00
R4536:Exoc4	UTSW	6	33,254,179 (GRCm39)	missense	probably damaging	1.00
R4611:Exoc4	UTSW	6	33,415,340 (GRCm39)	missense	possibly damaging	0.77
R4617:Exoc4	UTSW	6	33,839,139 (GRCm39)	missense	probably benign	0.00
R4771:Exoc4	UTSW	6	33,418,884 (GRCm39)	critical splice acceptor site	probably null
R4851:Exoc4	UTSW	6	33,895,343 (GRCm39)	missense	probably damaging	0.96
R4921:Exoc4	UTSW	6	33,887,452 (GRCm39)	missense	probably benign
R5358:Exoc4	UTSW	6	33,242,934 (GRCm39)	missense	probably damaging	1.00
R5767:Exoc4	UTSW	6	33,895,367 (GRCm39)	missense	probably benign
R6014:Exoc4	UTSW	6	33,452,932 (GRCm39)	missense	probably benign
R6132:Exoc4	UTSW	6	33,735,033 (GRCm39)	missense	probably damaging	1.00
R6164:Exoc4	UTSW	6	33,309,218 (GRCm39)	missense	probably damaging	0.99
R6583:Exoc4	UTSW	6	33,792,688 (GRCm39)	missense	probably damaging	1.00
R6915:Exoc4	UTSW	6	33,898,388 (GRCm39)	missense	possibly damaging	0.81
R6973:Exoc4	UTSW	6	33,556,965 (GRCm39)	missense	probably damaging	1.00
R7112:Exoc4	UTSW	6	33,898,423 (GRCm39)	missense	probably damaging	1.00
R7129:Exoc4	UTSW	6	33,948,934 (GRCm39)	missense	probably damaging	1.00
R7133:Exoc4	UTSW	6	33,415,408 (GRCm39)	missense	probably benign	0.07
R7547:Exoc4	UTSW	6	33,816,056 (GRCm39)	missense	possibly damaging	0.95
R7885:Exoc4	UTSW	6	33,735,001 (GRCm39)	missense	probably benign	0.00
R8024:Exoc4	UTSW	6	33,324,866 (GRCm39)	missense	probably damaging	1.00
R8053:Exoc4	UTSW	6	33,309,191 (GRCm39)	missense	probably benign	0.45
R8118:Exoc4	UTSW	6	33,948,853 (GRCm39)	missense	probably damaging	1.00
R8154:Exoc4	UTSW	6	33,887,473 (GRCm39)	missense	probably benign
R8485:Exoc4	UTSW	6	33,898,436 (GRCm39)	missense	probably damaging	1.00
R9226:Exoc4	UTSW	6	33,895,359 (GRCm39)	missense	possibly damaging	0.87
R9402:Exoc4	UTSW	6	33,453,078 (GRCm39)	makesense	probably null
R9612:Exoc4	UTSW	6	33,226,161 (GRCm39)	missense	probably benign	0.19
R9711:Exoc4	UTSW	6	33,452,991 (GRCm39)	missense	unknown
X0066:Exoc4	UTSW	6	33,792,625 (GRCm39)	missense	probably damaging	0.99

Posted On

2015-04-16