Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01599:Exoc5'

92053

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Exoc5

Ensembl Gene

ENSMUSG00000061244

Gene Name

exocyst complex component 5

Synonyms

PRO1912, Sec10l1, SEC10

Accession Numbers

Essential gene?

Probably essential (E-score: 0.956) question?

Stock #

IGL01599

Quality Score

Status

Chromosome

Chromosomal Location

49249379-49304124 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 49272421 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 331 (Q331L)

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

noncoding transcript
Transcript: ENSMUST00000160723

Predicted Effect

probably benign
Transcript: ENSMUST00000161504
AA Change: Q266L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000124012
Gene: ENSMUSG00000061244
AA Change: Q266L

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 benign
Transcript: ENSMUST00000162175
AA Change: Q331L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000125434
Gene: ENSMUSG00000061244
AA Change: Q331L

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

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. [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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ackr3	T	C	1: 90,141,856 (GRCm39)	V105A	probably benign	Het
Acr	T	C	15: 89,452,617 (GRCm39)	V18A	probably benign	Het
Adgra2	G	A	8: 27,608,761 (GRCm39)	A540T	possibly damaging	Het
Aldh16a1	A	G	7: 44,791,517 (GRCm39)	F753L	probably damaging	Het
Ankfy1	T	A	11: 72,629,191 (GRCm39)	Y338N	probably benign	Het
Aox3	C	T	1: 58,208,953 (GRCm39)	R829C	probably damaging	Het
Arhgef11	T	C	3: 87,644,353 (GRCm39)	S1535P	probably benign	Het
C4b	A	G	17: 34,961,993 (GRCm39)		probably benign	Het
Ccdc157	A	G	11: 4,098,781 (GRCm39)	C242R	probably damaging	Het
Cep135	T	A	5: 76,741,194 (GRCm39)	M90K	possibly damaging	Het
Cfap36	A	T	11: 29,194,057 (GRCm39)		probably null	Het
Chl1	A	G	6: 103,685,445 (GRCm39)	T829A	probably benign	Het
Copb2	T	C	9: 98,463,203 (GRCm39)	S473P	probably damaging	Het
Cpb1	C	T	3: 20,306,118 (GRCm39)		probably null	Het
Cpsf1	A	G	15: 76,480,741 (GRCm39)	L1295P	probably damaging	Het
Dmp1	C	T	5: 104,360,328 (GRCm39)	Q335*	probably null	Het
Dyrk1a	T	A	16: 94,492,743 (GRCm39)	S621T	possibly damaging	Het
Fmnl1	G	A	11: 103,077,482 (GRCm39)	V287M	probably damaging	Het
Fras1	T	C	5: 96,857,750 (GRCm39)	S2015P	possibly damaging	Het
Gm7052	T	C	17: 22,258,985 (GRCm39)		probably benign	Het
Gprc5c	A	G	11: 114,755,078 (GRCm39)	I252V	probably benign	Het
Ints3	C	T	3: 90,301,629 (GRCm39)		probably null	Het
L1td1	A	G	4: 98,625,581 (GRCm39)	D592G	probably damaging	Het
Lamb3	A	G	1: 193,025,720 (GRCm39)	M1137V	probably benign	Het
Leng8	C	A	7: 4,148,481 (GRCm39)	A751E	probably benign	Het
Lfng	T	C	5: 140,598,290 (GRCm39)	V204A	probably damaging	Het
Lsm14b	A	G	2: 179,674,396 (GRCm39)	D233G	probably damaging	Het
Map4	C	T	9: 109,863,836 (GRCm39)	P354S	probably benign	Het
Mapt	G	A	11: 104,185,741 (GRCm39)	V53M	probably damaging	Het
Mier1	T	G	4: 103,012,738 (GRCm39)	S377A	possibly damaging	Het
Neurog1	T	C	13: 56,399,660 (GRCm39)	D29G	probably damaging	Het
Npr3	G	A	15: 11,895,875 (GRCm39)	A257V	probably damaging	Het
Nup188	T	C	2: 30,217,537 (GRCm39)	V824A	possibly damaging	Het
Olfm4	T	C	14: 80,258,750 (GRCm39)	S333P	probably damaging	Het
Or7g30	T	G	9: 19,353,111 (GRCm39)	F301V	probably benign	Het
Or9a4	A	C	6: 40,549,186 (GRCm39)	I289L	probably damaging	Het
Pbxip1	C	A	3: 89,350,897 (GRCm39)		probably benign	Het
Pde9a	G	T	17: 31,633,124 (GRCm39)	C38F	probably damaging	Het
Plb1	A	T	5: 32,499,888 (GRCm39)		probably benign	Het
Plcz1	T	C	6: 139,947,982 (GRCm39)		probably benign	Het
Plxnb1	T	C	9: 108,939,672 (GRCm39)	V1447A	probably damaging	Het
Pnldc1	A	T	17: 13,125,415 (GRCm39)	M73K	probably benign	Het
Psg20	C	T	7: 18,414,963 (GRCm39)	V311M	possibly damaging	Het
Psmd2	G	T	16: 20,478,155 (GRCm39)		probably null	Het
Rabgap1	T	C	2: 37,446,281 (GRCm39)	V859A	probably damaging	Het
Rad51b	T	A	12: 79,374,002 (GRCm39)	S194T	probably benign	Het
Rb1cc1	C	T	1: 6,318,995 (GRCm39)	Q788*	probably null	Het
Ror2	C	T	13: 53,265,653 (GRCm39)	G468R	probably damaging	Het
Slamf7	A	G	1: 171,468,754 (GRCm39)	I46T	possibly damaging	Het
Stab2	A	G	10: 86,758,759 (GRCm39)	S1060P	probably damaging	Het
Syndig1	T	A	2: 149,845,203 (GRCm39)	V242E	probably damaging	Het
Tgfbr3	G	A	5: 107,266,317 (GRCm39)	T801M	probably damaging	Het
Tmem132c	T	C	5: 127,436,616 (GRCm39)		probably benign	Het
Trav21-dv12	T	C	14: 54,114,188 (GRCm39)	Y103H	probably damaging	Het
Tut4	T	C	4: 108,370,596 (GRCm39)	S871P	possibly damaging	Het
Ubr3	T	C	2: 69,768,522 (GRCm39)	V443A	probably damaging	Het
Uhrf2	G	T	19: 30,069,520 (GRCm39)	C749F	probably damaging	Het
Ulk2	G	T	11: 61,682,262 (GRCm39)	S751*	probably null	Het
Wrn	G	A	8: 33,731,039 (GRCm39)	P1098S	possibly damaging	Het
Xrcc5	T	C	1: 72,385,508 (GRCm39)	V533A	possibly damaging	Het
Zc3h13	T	C	14: 75,547,163 (GRCm39)	S223P	probably 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
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
R4794:Exoc5	UTSW	14	49,286,357 (GRCm39)	critical splice acceptor site	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

Posted On

2013-12-09