Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00229:Exoc4'

2389

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Exoc4

Ensembl Gene

ENSMUSG00000029763

Gene Name

exocyst complex component 4

Synonyms

Sec8l1, Sec8

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL00229

Quality Score

Status

Chromosome

Chromosomal Location

33249085-33973979 bp(+) (GRCm38)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

A to G at 33918399 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000051965 (fasta)

Gene Model

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

AlphaFold

O35382

Predicted Effect

probably null
Transcript: ENSMUST00000052266

SMART Domains

Protein: ENSMUSP00000051965
Gene: ENSMUSG00000029763

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010111I01Rik	A	G	13: 63,199,500		probably benign	Het
9030624J02Rik	T	A	7: 118,804,191		probably benign	Het
Abca4	A	G	3: 122,170,954	T929A	probably damaging	Het
Adam6b	G	A	12: 113,491,393	R610H	probably damaging	Het
Adamts12	T	A	15: 11,311,599	M1314K	probably benign	Het
Alg6	T	A	4: 99,753,054	F152I	probably damaging	Het
Arid5b	A	G	10: 68,128,975	S289P	probably damaging	Het
Axin1	T	C	17: 26,194,072	F780L	probably damaging	Het
C87499	A	G	4: 88,629,053	I214T	probably damaging	Het
C9	C	T	15: 6,483,231	S278L	possibly damaging	Het
Calr4	A	T	4: 109,244,115	I65F	probably damaging	Het
Cdh23	A	G	10: 60,523,548	V260A	probably benign	Het
Ddx25	T	C	9: 35,543,595		probably benign	Het
Dppa4	A	G	16: 48,291,083	T92A	possibly damaging	Het
Ercc5	T	C	1: 44,163,898	Y232H	probably damaging	Het
Fam149a	A	G	8: 45,351,786	V253A	probably damaging	Het
Fam209	C	T	2: 172,474,182	T159I	probably damaging	Het
Gcfc2	A	T	6: 81,936,015	N265I	probably damaging	Het
Glud1	T	C	14: 34,336,130	V366A	probably benign	Het
Hdac10	T	C	15: 89,128,442	T3A	probably damaging	Het
Ifnar1	T	C	16: 91,489,782	S54P	probably damaging	Het
Itpr2	T	C	6: 146,144,185	Y2561C	probably damaging	Het
Klhl30	A	G	1: 91,354,157	E160G	possibly damaging	Het
Kmt2d	A	T	15: 98,862,333	S1015T	unknown	Het
Lactb2	A	G	1: 13,660,374	M26T	probably damaging	Het
Lactbl1	A	T	4: 136,631,051	D111V	probably damaging	Het
Lig4	T	C	8: 9,972,775	Y335C	probably damaging	Het
Lrrc8e	T	A	8: 4,235,921	D715E	probably benign	Het
Med6	A	T	12: 81,579,574	V142D	possibly damaging	Het
Men1	G	A	19: 6,337,207		probably null	Het
Mettl13	A	G	1: 162,535,865	V600A	possibly damaging	Het
Mpdz	A	T	4: 81,310,224	C1314*	probably null	Het
Nbeal2	A	G	9: 110,635,869	V1009A	probably damaging	Het
Nmur2	A	G	11: 56,040,777	L36P	probably damaging	Het
Nudt2	T	A	4: 41,480,474	L119Q	probably damaging	Het
Olfr1472	T	C	19: 13,453,840	M226V	possibly damaging	Het
Osbpl3	C	T	6: 50,323,068	E519K	probably damaging	Het
Pak6	A	T	2: 118,689,845	T106S	possibly damaging	Het
Pggt1b	T	G	18: 46,280,719	Q34P	probably benign	Het
Phactr4	T	C	4: 132,370,992	T322A	possibly damaging	Het
Plekhj1	T	C	10: 80,796,602		probably null	Het
Pnpt1	T	C	11: 29,154,217		probably null	Het
Prr14l	T	C	5: 32,830,676	I492V	probably benign	Het
Ranbp2	C	A	10: 58,477,256	A1266E	probably damaging	Het
Riok3	G	A	18: 12,137,020	D140N	probably damaging	Het
Rsph4a	G	A	10: 33,914,343	E643K	probably damaging	Het
Scara3	T	G	14: 65,933,121	E103A	probably benign	Het
Sgk3	T	C	1: 9,868,384	V33A	probably damaging	Het
Slc38a4	A	G	15: 96,999,494	F480S	probably damaging	Het
Slc44a1	G	A	4: 53,543,571	V372M	probably damaging	Het
Slc9a2	A	G	1: 40,767,737	Y728C	probably benign	Het
Sox4	C	A	13: 28,952,973	G17W	probably damaging	Het
Spidr	A	T	16: 15,895,578	L847Q	probably damaging	Het
Sptb	A	G	12: 76,620,753	S857P	probably benign	Het
Syde1	A	G	10: 78,585,809	V636A	probably damaging	Het
Syna	A	G	5: 134,559,717	L126P	possibly damaging	Het
Taar2	A	G	10: 23,941,368	T269A	possibly damaging	Het
Tapbp	C	T	17: 33,925,704	T258I	probably damaging	Het
Tcf20	T	A	15: 82,857,142	Q36L	possibly damaging	Het
Tmem131l	A	T	3: 83,942,500	M260K	probably damaging	Het
Tnc	T	A	4: 64,016,824		probably benign	Het
Ugp2	T	A	11: 21,354,345	E27D	probably benign	Het
Wdr27	A	T	17: 14,928,310	C140*	probably null	Het
Wnt2b	T	C	3: 104,953,133	T153A	possibly damaging	Het
Xirp2	A	T	2: 67,513,375	T1987S	probably benign	Het
Zfp36l1	C	A	12: 80,110,464	G48C	probably damaging	Het
Zfp474	A	T	18: 52,638,493	I73F	possibly damaging	Het
Zfp790	T	A	7: 29,828,563	F224L	probably benign	Het

Other mutations in Exoc4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00433:Exoc4	APN	6	33296788	missense	probably damaging	1.00
IGL00833:Exoc4	APN	6	33971924	missense	probably damaging	1.00
IGL01339:Exoc4	APN	6	33305400	splice site	probably benign
IGL01559:Exoc4	APN	6	33266076	missense	probably damaging	0.96
IGL01812:Exoc4	APN	6	33757959	splice site	probably benign
IGL01926:Exoc4	APN	6	33862142	missense	probably damaging	1.00
IGL02270:Exoc4	APN	6	33580026	missense	possibly damaging	0.61
IGL02316:Exoc4	APN	6	33910584	missense	probably damaging	0.98
IGL02332:Exoc4	APN	6	33249240	critical splice donor site	probably null
IGL02668:Exoc4	APN	6	33921532	missense	probably benign	0.00
slacker	UTSW	6	33758098	missense	probably damaging	1.00
R0049:Exoc4	UTSW	6	33296922	splice site	probably null
R0134:Exoc4	UTSW	6	33971946	missense	possibly damaging	0.56
R0234:Exoc4	UTSW	6	33862087	missense	possibly damaging	0.89
R0234:Exoc4	UTSW	6	33862087	missense	possibly damaging	0.89
R0538:Exoc4	UTSW	6	33972063	missense	probably benign	0.09
R1033:Exoc4	UTSW	6	33265987	missense	probably damaging	1.00
R1067:Exoc4	UTSW	6	33918424	missense	possibly damaging	0.87
R1109:Exoc4	UTSW	6	33442016	missense	probably damaging	1.00
R1768:Exoc4	UTSW	6	33758050	missense	probably damaging	1.00
R2013:Exoc4	UTSW	6	33266091	missense	probably damaging	0.96
R2078:Exoc4	UTSW	6	33910587	missense	probably benign	0.06
R2114:Exoc4	UTSW	6	33347825	missense	possibly damaging	0.74
R2115:Exoc4	UTSW	6	33347825	missense	possibly damaging	0.74
R2117:Exoc4	UTSW	6	33347825	missense	possibly damaging	0.74
R2133:Exoc4	UTSW	6	33758158	missense	probably benign	0.00
R2133:Exoc4	UTSW	6	33910538	missense	probably benign
R2308:Exoc4	UTSW	6	33918568	missense	probably damaging	1.00
R3412:Exoc4	UTSW	6	33265975	missense	probably damaging	1.00
R3794:Exoc4	UTSW	6	33475997	missense	probably benign
R3885:Exoc4	UTSW	6	33266131	critical splice donor site	probably null
R4378:Exoc4	UTSW	6	33815687	missense	probably damaging	1.00
R4534:Exoc4	UTSW	6	33277244	missense	probably damaging	1.00
R4535:Exoc4	UTSW	6	33277244	missense	probably damaging	1.00
R4536:Exoc4	UTSW	6	33277244	missense	probably damaging	1.00
R4611:Exoc4	UTSW	6	33438405	missense	possibly damaging	0.77
R4617:Exoc4	UTSW	6	33862204	missense	probably benign	0.00
R4771:Exoc4	UTSW	6	33441949	critical splice acceptor site	probably null
R4851:Exoc4	UTSW	6	33918408	missense	probably damaging	0.96
R4921:Exoc4	UTSW	6	33910517	missense	probably benign
R5358:Exoc4	UTSW	6	33265999	missense	probably damaging	1.00
R5767:Exoc4	UTSW	6	33918432	missense	probably benign
R6014:Exoc4	UTSW	6	33475997	missense	probably benign
R6132:Exoc4	UTSW	6	33758098	missense	probably damaging	1.00
R6164:Exoc4	UTSW	6	33332283	missense	probably damaging	0.99
R6583:Exoc4	UTSW	6	33815753	missense	probably damaging	1.00
R6915:Exoc4	UTSW	6	33921453	missense	possibly damaging	0.81
R6973:Exoc4	UTSW	6	33580030	missense	probably damaging	1.00
R7112:Exoc4	UTSW	6	33921488	missense	probably damaging	1.00
R7129:Exoc4	UTSW	6	33971999	missense	probably damaging	1.00
R7133:Exoc4	UTSW	6	33438473	missense	probably benign	0.07
R7547:Exoc4	UTSW	6	33839121	missense	possibly damaging	0.95
R7885:Exoc4	UTSW	6	33758066	missense	probably benign	0.00
R8024:Exoc4	UTSW	6	33347931	missense	probably damaging	1.00
R8053:Exoc4	UTSW	6	33332256	missense	probably benign	0.45
R8118:Exoc4	UTSW	6	33971918	missense	probably damaging	1.00
R8154:Exoc4	UTSW	6	33910538	missense	probably benign
R8485:Exoc4	UTSW	6	33921501	missense	probably damaging	1.00
R9226:Exoc4	UTSW	6	33918424	missense	possibly damaging	0.87
R9402:Exoc4	UTSW	6	33476143	makesense	probably null
R9612:Exoc4	UTSW	6	33249226	missense	probably benign	0.19
R9711:Exoc4	UTSW	6	33476056	missense	unknown
X0066:Exoc4	UTSW	6	33815690	missense	probably damaging	0.99

Posted On

2011-12-09