Mutagenetix > Incidental Mutation

Incidental Mutation 'R9711:Exoc4'

730150

Institutional Source

Beutler Lab

Gene Symbol

Exoc4

Ensembl Gene

ENSMUSG00000029763

Gene Name

exocyst complex component 4

Synonyms

Sec8, Sec8l1

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9711 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

33226025-33950914 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 33452991 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 494 (T494A)

Ref Sequence

ENSEMBL: ENSMUSP00000087859 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000052266] [ENSMUST00000090381] [ENSMUST00000115080]

AlphaFold

O35382

Predicted Effect

probably benign
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

Predicted Effect

unknown
Transcript: ENSMUST00000090381
AA Change: T494A

SMART Domains

Protein: ENSMUSP00000087859
Gene: ENSMUSG00000029763
AA Change: T494A

Domain	Start	End	E-Value	Type
Pfam:Sec8_exocyst	24	144	1.1e-36	PFAM
low complexity region	338	346	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000115080

SMART Domains

Protein: ENSMUSP00000110732
Gene: ENSMUSG00000029763

Domain	Start	End	E-Value	Type
Pfam:Sec8_exocyst	24	144	7.4e-37	PFAM
low complexity region	338	346	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc12	T	C	8: 87,275,388 (GRCm39)	D430G	probably damaging	Het
Adgrf1	T	C	17: 43,621,580 (GRCm39)	S606P	possibly damaging	Het
Afap1	A	G	5: 36,141,540 (GRCm39)	N475D	probably damaging	Het
Ahnak2	A	G	12: 112,739,468 (GRCm39)	S1535P	possibly damaging	Het
Akt1	G	T	12: 112,624,885 (GRCm39)	H194N	possibly damaging	Het
Api5	T	A	2: 94,251,812 (GRCm39)	Q396L	possibly damaging	Het
Aplp2	T	C	9: 31,083,303 (GRCm39)	N148S	probably benign	Het
Asb3	A	G	11: 31,031,400 (GRCm39)	Y340C	probably damaging	Het
Bbox1	A	T	2: 110,098,581 (GRCm39)	M332K	probably damaging	Het
Cabin1	A	T	10: 75,579,090 (GRCm39)	S449T	probably benign	Het
Carns1	A	G	19: 4,216,007 (GRCm39)	V725A	possibly damaging	Het
Cdkn1b	A	G	6: 134,898,058 (GRCm39)	K59R	possibly damaging	Het
Cdv3	A	T	9: 103,233,539 (GRCm39)	I212K	probably damaging	Het
Clec14a	T	A	12: 58,314,432 (GRCm39)	I397F	probably damaging	Het
Cnnm1	A	G	19: 43,483,469 (GRCm39)	I950V	possibly damaging	Het
Ddi2	A	G	4: 141,422,734 (GRCm39)	M326T	probably benign	Het
Dhx30	T	C	9: 109,914,103 (GRCm39)	T1065A	probably benign	Het
Eif3c	A	T	7: 126,146,674 (GRCm39)	M808K	possibly damaging	Het
Evi2	G	T	11: 79,406,971 (GRCm39)	H201Q	possibly damaging	Het
Fam83f	T	A	15: 80,574,819 (GRCm39)	M242K	probably damaging	Het
Fat4	T	C	3: 39,055,374 (GRCm39)	Y4198H	probably benign	Het
Fcgbp	C	A	7: 27,793,000 (GRCm39)	N1001K	probably benign	Het
Gda	G	T	19: 21,400,449 (GRCm39)	A164E	probably damaging	Het
Gm19410	T	C	8: 36,279,493 (GRCm39)	V1786A	possibly damaging	Het
Gm45871	A	G	18: 90,609,069 (GRCm39)	N82S	probably benign	Het
Gnas	T	A	2: 174,141,392 (GRCm39)	S580T	unknown	Het
Gprin1	G	A	13: 54,886,714 (GRCm39)	P520L	probably benign	Het
Gramd4	C	T	15: 86,014,751 (GRCm39)	R433C	probably damaging	Het
Ighv5-12	T	A	12: 113,665,958 (GRCm39)	T47S	probably benign	Het
Itprid1	T	G	6: 55,864,018 (GRCm39)	S115A	probably damaging	Het
Kdm5a	T	A	6: 120,367,658 (GRCm39)	L451Q	probably damaging	Het
Kif12	T	A	4: 63,084,126 (GRCm39)	R624S	probably benign	Het
Lepr	T	A	4: 101,592,851 (GRCm39)	Y155*	probably null	Het
Lnx2	T	A	5: 146,961,376 (GRCm39)	I519F	probably damaging	Het
Marchf7	T	A	2: 60,060,175 (GRCm39)	S101T	probably damaging	Het
Miox	A	G	15: 89,220,785 (GRCm39)	D230G	probably damaging	Het
Morc2a	T	A	11: 3,600,381 (GRCm39)	M1K	probably null	Het
Mtus1	T	C	8: 41,536,222 (GRCm39)	N498S	probably damaging	Het
Mxd1	T	A	6: 86,645,554 (GRCm39)	R46W	probably damaging	Het
Ndufa11	G	C	17: 57,024,843 (GRCm39)	A2P	possibly damaging	Het
Necab2	C	T	8: 120,198,513 (GRCm39)	H362Y	probably damaging	Het
Nphp4	G	A	4: 152,623,434 (GRCm39)	V703I	possibly damaging	Het
Nup54	T	C	5: 92,582,218 (GRCm39)	N31S	unknown	Het
Or13a23-ps1	T	A	7: 140,118,497 (GRCm39)	S22R	probably benign	Het
Or1ad6	T	C	11: 50,860,316 (GRCm39)	L157P	probably damaging	Het
Or1e34	A	T	11: 73,778,696 (GRCm39)	C167*	probably null	Het
Or8b4	A	C	9: 37,830,066 (GRCm39)	T38P	probably damaging	Het
P2rx2	T	C	5: 110,490,388 (GRCm39)	E109G	possibly damaging	Het
Pcdha7	T	C	18: 37,107,409 (GRCm39)	S145P	probably damaging	Het
Pdlim5	A	T	3: 141,948,529 (GRCm39)	V586E	probably damaging	Het
Pex5l	T	C	3: 33,136,204 (GRCm39)	E5G	probably benign	Het
Plch1	T	A	3: 63,615,176 (GRCm39)	D774V	probably damaging	Het
Plekhg3	A	T	12: 76,611,726 (GRCm39)	D335V	possibly damaging	Het
Pop1	A	G	15: 34,530,227 (GRCm39)	H905R	probably benign	Het
Ppm1k	T	C	6: 57,492,720 (GRCm39)	T189A	probably damaging	Het
Pramel13	A	G	4: 144,122,517 (GRCm39)	L9P	probably damaging	Het
Recql5	A	G	11: 115,784,367 (GRCm39)	V911A	probably damaging	Het
Rnf145	T	A	11: 44,415,830 (GRCm39)	L15*	probably null	Het
Rpl13a	A	G	7: 44,776,673 (GRCm39)	V29A	probably benign	Het
Rps6ka5	A	G	12: 100,540,250 (GRCm39)	V491A	probably benign	Het
Setbp1	T	C	18: 78,900,142 (GRCm39)	H1175R	probably benign	Het
Setd5	T	C	6: 113,093,063 (GRCm39)	S372P	probably damaging	Het
Slc1a3	T	C	15: 8,675,177 (GRCm39)	E276G	probably damaging	Het
Slc36a2	T	C	11: 55,070,169 (GRCm39)	N136S	probably benign	Het
Spag1	G	A	15: 36,190,683 (GRCm39)		probably null	Het
Spon1	A	C	7: 113,387,685 (GRCm39)	T81P	probably damaging	Het
Sv2b	A	T	7: 74,856,238 (GRCm39)	D17E	probably benign	Het
Tasor2	A	G	13: 3,649,667 (GRCm39)	V44A	probably benign	Het
Tax1bp1	C	T	6: 52,704,215 (GRCm39)	T65I	probably damaging	Het
Tenm2	C	A	11: 35,915,341 (GRCm39)	K2065N	probably damaging	Het
Ticam2	T	C	18: 46,693,658 (GRCm39)	D143G	probably damaging	Het
Tmem132d	T	C	5: 127,869,579 (GRCm39)	E585G	possibly damaging	Het
Tnfrsf8	C	T	4: 145,019,668 (GRCm39)		probably null	Het
Trim44	C	T	2: 102,230,813 (GRCm39)	G73R	unknown	Het
Trpc3	C	T	3: 36,692,713 (GRCm39)	D760N	possibly damaging	Het
Tspan9	T	A	6: 127,942,715 (GRCm39)	M171L	probably benign	Het
Ugt2b37	A	G	5: 87,402,532 (GRCm39)	F33S	possibly damaging	Het
Vav2	A	T	2: 27,159,027 (GRCm39)	V734E	probably damaging	Het
Vmn1r214	A	G	13: 23,218,508 (GRCm39)	M1V	probably null	Het
Vmn1r24	A	T	6: 57,932,804 (GRCm39)	V238E	probably damaging	Het
Vmn2r107	A	G	17: 20,577,262 (GRCm39)	Q420R	probably damaging	Het
Vmn2r31	G	A	7: 7,387,085 (GRCm39)	P829S	probably damaging	Het
Xpo6	A	G	7: 125,712,873 (GRCm39)	F703L	probably benign	Het
Zfp442	T	A	2: 150,250,207 (GRCm39)	H565L	possibly damaging	Het
Zfp950	A	T	19: 61,116,000 (GRCm39)	D2E	probably damaging	Het
Zfp992	T	A	4: 146,551,345 (GRCm39)	S355R	probably damaging	Het
Zwilch	A	T	9: 64,063,303 (GRCm39)	F309Y	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
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
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
X0066:Exoc4	UTSW	6	33,792,625 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TGAGAGCTGAGCCTCCAT -3'
(R):5'- ACCCTTCAGCCTACAGTGAG -3'

Sequencing Primer
(F):5'- ATCTGATTCAGACCTGTGCAG -3'
(R):5'- TTCAGCCTACAGTGAGACCTG -3'

Posted On

2022-10-06