Mutagenetix > Incidental Mutation

Incidental Mutation 'R2308:Exoc4'

244674

Institutional Source

Beutler Lab

Gene Symbol

Exoc4

Ensembl Gene

ENSMUSG00000029763

Gene Name

exocyst complex component 4

Synonyms

Sec8, Sec8l1

MMRRC Submission

040307-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2308 (G1)

Quality Score

167

Status

Not validated

Chromosome

Chromosomal Location

33226025-33950914 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 33895503 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 840 (Y840C)

Ref Sequence

ENSEMBL: ENSMUSP00000051965 (fasta)

Gene Model

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

AlphaFold

O35382

Predicted Effect

probably damaging
Transcript: ENSMUST00000052266
AA Change: Y840C

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

SMART Domains

Protein: ENSMUSP00000051965
Gene: ENSMUSG00000029763
AA Change: Y840C

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

1x: 99.4%
3x: 98.6%
10x: 96.9%
20x: 93.3%

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: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Depdc1b	G	A	13: 108,510,375 (GRCm39)	V296I	possibly damaging	Het
Dot1l	T	C	10: 80,624,903 (GRCm39)	S907P	probably damaging	Het
Epha7	G	A	4: 28,821,503 (GRCm39)	E223K	possibly damaging	Het
Ercc6	T	C	14: 32,288,366 (GRCm39)	I846T	possibly damaging	Het
Gramd1a	T	C	7: 30,839,215 (GRCm39)	D231G	probably damaging	Het
Mark2	A	C	19: 7,259,299 (GRCm39)	S90A	probably damaging	Het
Mbd1	A	G	18: 74,409,548 (GRCm39)	Q432R	probably benign	Het
Mcm2	G	A	6: 88,869,990 (GRCm39)	R60C	probably damaging	Het
Met	T	C	6: 17,491,741 (GRCm39)	S168P	probably benign	Het
Nup210	T	C	6: 91,017,850 (GRCm39)	I304V	probably benign	Het
Or1ak2	T	A	2: 36,827,312 (GRCm39)	Y60*	probably null	Het
Or4a27	T	A	2: 88,559,428 (GRCm39)	I172F	probably damaging	Het
Ppfia4	A	G	1: 134,260,135 (GRCm39)	S43P	possibly damaging	Het
Rbbp8	A	T	18: 11,829,833 (GRCm39)	K132I	possibly damaging	Het
Rpap1	G	A	2: 119,614,247 (GRCm39)	P50L	probably benign	Het
Slc41a3	T	A	6: 90,589,102 (GRCm39)	I71K	possibly damaging	Het
Spaca7	A	T	8: 12,648,959 (GRCm39)	N127I	probably benign	Het
Stkld1	A	T	2: 26,842,726 (GRCm39)	D566V	probably damaging	Het
Tbxas1	A	G	6: 39,004,595 (GRCm39)	M281V	probably benign	Het
Txnl1	T	C	18: 63,804,691 (GRCm39)	T268A	probably benign	Het
Unc80	A	T	1: 66,688,156 (GRCm39)	I2385F	possibly damaging	Het
Vmn2r118	A	G	17: 55,931,650 (GRCm39)	I8T	probably benign	Het
Vmn2r80	T	C	10: 79,007,455 (GRCm39)	F477S	probably damaging	Het
Ythdc2	A	G	18: 44,980,815 (GRCm39)	E470G	possibly damaging	Het
Zfp352	A	G	4: 90,113,480 (GRCm39)	K540R	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
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
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

Predicted Primers

PCR Primer
(F):5'- TGGCCGCTTCAAATATTTCGG -3'
(R):5'- CTACCCATACAGAAAGCTAGGTG -3'

Sequencing Primer
(F):5'- AAATATTTCGGTGCTCTTTCCCAGG -3'
(R):5'- AGGTGCAGCAGTTCTAATCC -3'

Posted On

2014-10-30