Mutagenetix > Incidental Mutation

Incidental Mutation 'R4794:Exoc5'

404200

Institutional Source

Beutler Lab

Gene Symbol

Exoc5

Ensembl Gene

ENSMUSG00000061244

Gene Name

exocyst complex component 5

Synonyms

PRO1912, Sec10l1, SEC10

MMRRC Submission

042420-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.956) question?

Stock #

R4794 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

49249379-49304124 bp(-) (GRCm39)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

T to C at 49286357 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000125434 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000161504] [ENSMUST00000162175]

AlphaFold

Q3TPX4

Predicted Effect

probably benign
Transcript: ENSMUST00000160386

SMART Domains

Protein: ENSMUSP00000123825
Gene: ENSMUSG00000061244

Domain	Start	End	E-Value	Type
Pfam:Sec10	2	76	2.4e-18	PFAM
Pfam:Sec10	71	200	2.6e-27	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000161504

SMART Domains

Protein: ENSMUSP00000124012
Gene: ENSMUSG00000061244

Domain	Start	End	E-Value	Type
Pfam:Sec10	43	175	9.5e-24	PFAM
Pfam:Sec10	175	642	1.1e-119	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000162175

SMART Domains

Protein: ENSMUSP00000125434
Gene: ENSMUSG00000061244

Domain	Start	End	E-Value	Type
Pfam:Sec10	89	707	6.6e-154	PFAM

Meta Mutation Damage Score

0.9502

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.4%
20x: 92.5%

Validation Efficiency

97% (75/77)

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. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a conditional allele activated in all cells die prior to E8.5. Mice homozygous for a conditional allele activated in kidney cells exhibit ureteropelvic junction obstructions leading to neontal death. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam4	A	T	12: 81,468,198 (GRCm39)	I141K	probably damaging	Het
Adgrb1	A	G	15: 74,459,978 (GRCm39)	E537G	probably damaging	Het
Asic3	C	T	5: 24,620,895 (GRCm39)	A259V	probably damaging	Het
Bcar1	G	A	8: 112,447,552 (GRCm39)	Q142*	probably null	Het
Bcas3	T	C	11: 85,400,294 (GRCm39)	V200A	probably damaging	Het
Cd302	A	T	2: 60,102,493 (GRCm39)	I42N	probably benign	Het
Colec12	C	A	18: 9,848,984 (GRCm39)	N387K	probably damaging	Het
Copa	T	A	1: 171,946,888 (GRCm39)	I1032N	probably damaging	Het
D630003M21Rik	G	C	2: 158,038,059 (GRCm39)	T1129S	probably benign	Het
D630045J12Rik	G	A	6: 38,171,420 (GRCm39)	T916I	possibly damaging	Het
Dnajb13	C	T	7: 100,153,199 (GRCm39)	A241T	probably damaging	Het
Dyrk4	G	T	6: 126,862,300 (GRCm39)	N397K	possibly damaging	Het
Eftud2	T	A	11: 102,761,003 (GRCm39)	Y114F	probably benign	Het
Elp1	ACTTCTTCTTCTTCTTCTTCTTC	ACTTCTTCTTCTTCTTCTTC	4: 56,781,176 (GRCm39)		probably benign	Het
Epm2a	A	G	10: 11,266,597 (GRCm39)	D114G	probably benign	Het
Fam135a	G	A	1: 24,068,241 (GRCm39)	T706I	probably benign	Het
Fasn	A	G	11: 120,702,121 (GRCm39)	V1845A	probably benign	Het
Fscn3	A	G	6: 28,430,595 (GRCm39)	E255G	probably damaging	Het
Galnt7	A	T	8: 57,998,397 (GRCm39)	Y311N	probably damaging	Het
Grid1	T	C	14: 34,544,579 (GRCm39)	L50P	probably damaging	Het
Hepacam2	A	G	6: 3,475,933 (GRCm39)	F331L	probably damaging	Het
Kalrn	C	T	16: 33,810,180 (GRCm39)	D2525N	possibly damaging	Het
Kif1a	T	C	1: 92,953,449 (GRCm39)	Y1245C	probably damaging	Het
Ltbp3	T	C	19: 5,806,707 (GRCm39)	F1022L	probably damaging	Het
Med16	G	T	10: 79,735,951 (GRCm39)	T399N	probably damaging	Het
Mfsd14a	A	T	3: 116,439,155 (GRCm39)		probably benign	Het
Myh7b	G	A	2: 155,465,186 (GRCm39)	V681I	probably benign	Het
Ndc1	A	G	4: 107,247,419 (GRCm39)	E409G	probably benign	Het
Necap2	A	G	4: 140,798,912 (GRCm39)		probably benign	Het
Or2a57	T	A	6: 43,212,629 (GRCm39)	L29H	probably damaging	Het
Or4p21	A	T	2: 88,276,691 (GRCm39)	M197K	probably benign	Het
Or7g29	C	T	9: 19,286,841 (GRCm39)	S112N	probably benign	Het
Parp12	G	A	6: 39,094,744 (GRCm39)	T117I	probably benign	Het
Pars2	C	A	4: 106,511,407 (GRCm39)	C396*	probably null	Het
Prg4	A	T	1: 150,330,297 (GRCm39)		probably benign	Het
Prkg2	G	A	5: 99,114,492 (GRCm39)	T523I	probably damaging	Het
Prph	T	A	15: 98,955,308 (GRCm39)	L425Q	probably damaging	Het
Ranbp9	A	G	13: 43,567,552 (GRCm39)	Y549H	probably damaging	Het
Rbm12	A	T	2: 155,937,489 (GRCm39)		probably benign	Het
Reln	T	C	5: 22,549,183 (GRCm39)	Y75C	probably damaging	Het
Rock2	G	A	12: 16,990,408 (GRCm39)	R110H	probably damaging	Het
Samd1	G	A	8: 84,726,346 (GRCm39)	E468K	probably damaging	Het
Samd11	T	A	4: 156,333,922 (GRCm39)	Q173L	probably damaging	Het
Scgb2b20	C	A	7: 33,065,151 (GRCm39)	G37V	probably damaging	Het
Sf1	C	A	19: 6,425,694 (GRCm39)		probably benign	Het
Slc17a5	T	A	9: 78,481,997 (GRCm39)	H183L	probably damaging	Het
Slco1a7	A	G	6: 141,713,288 (GRCm39)	V31A	probably benign	Het
Smgc	T	A	15: 91,725,657 (GRCm39)	S13T	probably benign	Het
Snapin	A	G	3: 90,398,092 (GRCm39)		probably benign	Het
Spata31e4	C	G	13: 50,857,275 (GRCm39)	P971R	probably benign	Het
Ssc5d	C	T	7: 4,946,744 (GRCm39)	P1033S	probably benign	Het
Strn3	T	C	12: 51,696,954 (GRCm39)	E259G	probably benign	Het
Tbc1d32	A	G	10: 56,072,932 (GRCm39)	F238L	possibly damaging	Het
Tbck	G	A	3: 132,392,729 (GRCm39)	V57M	possibly damaging	Het
Tgm3	A	G	2: 129,883,875 (GRCm39)	D511G	probably benign	Het
Tlr5	T	C	1: 182,801,461 (GRCm39)	V241A	probably benign	Het
Tmem181c-ps	A	G	17: 6,887,754 (GRCm39)		noncoding transcript	Het
Tnfrsf1a	G	A	6: 125,335,047 (GRCm39)	C168Y	probably damaging	Het
Tph2	G	T	10: 115,018,675 (GRCm39)	L79I	possibly damaging	Het
Tsc1	G	A	2: 28,551,702 (GRCm39)		probably null	Het
Ttc14	A	T	3: 33,857,298 (GRCm39)	M215L	probably benign	Het
Ube3c	A	G	5: 29,802,083 (GRCm39)	N120S	probably benign	Het
Ubr2	A	T	17: 47,241,371 (GRCm39)	W1728R	probably damaging	Het
Vnn1	A	G	10: 23,776,602 (GRCm39)	T318A	probably benign	Het
Washc2	T	C	6: 116,235,610 (GRCm39)	V941A	probably benign	Het
Wdfy3	A	G	5: 102,091,809 (GRCm39)	V510A	probably damaging	Het
Wdsub1	A	T	2: 59,693,188 (GRCm39)	V272E	possibly damaging	Het
Xylt1	A	C	7: 117,236,862 (GRCm39)	D537A	probably benign	Het
Zfp57	A	G	17: 37,321,022 (GRCm39)	N292S	possibly damaging	Het

Other mutations in Exoc5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01010:Exoc5	APN	14	49,275,212 (GRCm39)	missense	probably damaging	1.00
IGL01473:Exoc5	APN	14	49,251,751 (GRCm39)	missense	possibly damaging	0.83
IGL01599:Exoc5	APN	14	49,272,421 (GRCm39)	missense	probably benign	0.00
IGL01702:Exoc5	APN	14	49,253,072 (GRCm39)	nonsense	probably null
IGL02173:Exoc5	APN	14	49,272,258 (GRCm39)	splice site	probably benign
IGL02211:Exoc5	APN	14	49,251,667 (GRCm39)	missense	probably damaging	1.00
IGL02874:Exoc5	APN	14	49,288,903 (GRCm39)	missense	probably benign	0.02
IGL02968:Exoc5	APN	14	49,270,726 (GRCm39)	critical splice donor site	probably null
IGL03167:Exoc5	APN	14	49,288,802 (GRCm39)	missense	probably damaging	1.00
IGL03207:Exoc5	APN	14	49,270,832 (GRCm39)	missense	probably benign
PIT4260001:Exoc5	UTSW	14	49,286,222 (GRCm39)	missense	probably benign	0.01
R0139:Exoc5	UTSW	14	49,273,493 (GRCm39)	missense	probably damaging	1.00
R0594:Exoc5	UTSW	14	49,273,544 (GRCm39)	splice site	probably benign
R0945:Exoc5	UTSW	14	49,276,799 (GRCm39)	splice site	probably benign
R1968:Exoc5	UTSW	14	49,272,347 (GRCm39)	missense	probably benign	0.27
R2082:Exoc5	UTSW	14	49,253,044 (GRCm39)	missense	probably benign	0.07
R2186:Exoc5	UTSW	14	49,252,936 (GRCm39)	missense	probably benign	0.08
R2356:Exoc5	UTSW	14	49,253,738 (GRCm39)	missense	probably benign	0.00
R3419:Exoc5	UTSW	14	49,260,735 (GRCm39)	missense	probably damaging	1.00
R3743:Exoc5	UTSW	14	49,270,864 (GRCm39)	nonsense	probably null
R3743:Exoc5	UTSW	14	49,251,806 (GRCm39)	missense	probably benign	0.00
R3870:Exoc5	UTSW	14	49,256,853 (GRCm39)	splice site	probably benign
R4273:Exoc5	UTSW	14	49,252,937 (GRCm39)	nonsense	probably null
R4853:Exoc5	UTSW	14	49,289,826 (GRCm39)	small deletion	probably benign
R4864:Exoc5	UTSW	14	49,289,839 (GRCm39)	missense	probably benign	0.00
R4883:Exoc5	UTSW	14	49,289,821 (GRCm39)	missense	probably damaging	1.00
R5098:Exoc5	UTSW	14	49,286,304 (GRCm39)	missense	possibly damaging	0.90
R5965:Exoc5	UTSW	14	49,272,388 (GRCm39)	missense	probably damaging	1.00
R6036:Exoc5	UTSW	14	49,251,779 (GRCm39)	missense	possibly damaging	0.82
R6036:Exoc5	UTSW	14	49,251,779 (GRCm39)	missense	possibly damaging	0.82
R6820:Exoc5	UTSW	14	49,286,387 (GRCm39)	splice site	probably null
R8473:Exoc5	UTSW	14	49,256,860 (GRCm39)	missense	probably null	0.98
R8987:Exoc5	UTSW	14	49,252,986 (GRCm39)	missense	probably damaging	1.00
R9229:Exoc5	UTSW	14	49,251,710 (GRCm39)	nonsense	probably null
R9250:Exoc5	UTSW	14	49,256,915 (GRCm39)	missense	probably damaging	1.00
R9340:Exoc5	UTSW	14	49,286,297 (GRCm39)	missense	probably damaging	0.98
R9381:Exoc5	UTSW	14	49,275,194 (GRCm39)	missense	probably benign
R9729:Exoc5	UTSW	14	49,253,086 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGGCAATGCTTACCTTTTCAG -3'
(R):5'- GTGGTATCAAAGTTAGAAGCTTGG -3'

Sequencing Primer
(F):5'- GGCAATGCTTACCTTTTCAGAATTTG -3'
(R):5'- TCAAAGTTAGAAGCTTGGTTAAGAG -3'

Posted On

2016-07-22