Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00833:Exoc4'

10578

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 #

IGL00833

Quality Score

Status

Chromosome

Chromosomal Location

33226025-33950914 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 33948859 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 901 (E901K)

Ref Sequence

ENSEMBL: ENSMUSP00000051965 (fasta)

Gene Model

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

AlphaFold

O35382

Predicted Effect

probably damaging
Transcript: ENSMUST00000052266
AA Change: E901K

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

SMART Domains

Protein: ENSMUSP00000051965
Gene: ENSMUSG00000029763
AA Change: E901K

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: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldh3a1	A	G	11: 61,108,006 (GRCm39)	E350G	probably damaging	Het
Apob	T	C	12: 8,060,101 (GRCm39)	V2861A	probably benign	Het
Bpifb9a	C	T	2: 154,106,195 (GRCm39)	Q358*	probably null	Het
Cbfa2t2	T	A	2: 154,370,795 (GRCm39)	Y423N	probably damaging	Het
Cd209e	A	C	8: 3,902,800 (GRCm39)	M102R	probably benign	Het
Ddx42	T	A	11: 106,122,004 (GRCm39)	V173D	possibly damaging	Het
Dnah11	A	G	12: 118,143,315 (GRCm39)	F443L	probably damaging	Het
Gp5	T	C	16: 30,128,284 (GRCm39)	D130G	possibly damaging	Het
H2-T3	T	G	17: 36,497,933 (GRCm39)	S327R	probably benign	Het
Myo1e	T	C	9: 70,246,060 (GRCm39)	I417T	probably damaging	Het
Nasp	A	G	4: 116,459,933 (GRCm39)	V377A	probably damaging	Het
Nbn	A	G	4: 15,964,320 (GRCm39)	I132V	probably benign	Het
Nckap5	C	A	1: 125,954,889 (GRCm39)	K622N	probably damaging	Het
Nlrp4e	G	A	7: 23,039,896 (GRCm39)	V740I	probably benign	Het
Polr3gl	T	G	3: 96,485,876 (GRCm39)	D130A	probably damaging	Het
Ptprc	T	C	1: 138,006,230 (GRCm39)	K784R	possibly damaging	Het
Sycp1	A	G	3: 102,783,617 (GRCm39)		probably null	Het
Tg	C	T	15: 66,560,650 (GRCm39)	T1004I	probably benign	Het
Tmco5b	T	A	2: 113,127,194 (GRCm39)	I255N	probably damaging	Het
Ubr4	G	A	4: 139,120,470 (GRCm39)		probably null	Het
Zeb1	A	G	18: 5,767,774 (GRCm39)	T762A	probably benign	Het
Zfp345	T	C	2: 150,314,649 (GRCm39)	E296G	probably damaging	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
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
IGL02316:Exoc4	APN	6	33,887,519 (GRCm39)	missense	probably damaging	0.98
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

2012-12-06