Mutagenetix > Incidental Mutation

Incidental Mutation 'R1968:Exoc5'

219295

Institutional Source

Beutler Lab

Gene Symbol

Exoc5

Ensembl Gene

ENSMUSG00000061244

Gene Name

exocyst complex component 5

Synonyms

PRO1912, Sec10l1, SEC10

MMRRC Submission

039981-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.950) question?

Stock #

R1968 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

49249379-49304124 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 49272347 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 356 (Y356H)

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: Y291H

PolyPhen 2 Score 0.227 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000124012
Gene: ENSMUSG00000061244
AA Change: Y291H

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: Y356H

PolyPhen 2 Score 0.267 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000125434
Gene: ENSMUSG00000061244
AA Change: Y356H

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

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.2%

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: 95 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4fm4	A	G	4: 144,397,193 (GRCm39)	Y180H	possibly damaging	Het
Abcc10	A	T	17: 46,633,125 (GRCm39)	L528Q	probably damaging	Het
Adam18	T	A	8: 25,136,463 (GRCm39)	T353S	probably benign	Het
Aldh1a3	A	G	7: 66,061,248 (GRCm39)		probably null	Het
Aldh3b2	T	A	19: 4,030,705 (GRCm39)	M390K	probably benign	Het
Arhgap45	T	C	10: 79,863,536 (GRCm39)	I793T	probably damaging	Het
Arsb	A	G	13: 93,944,067 (GRCm39)	M253V	probably benign	Het
Atcay	T	C	10: 81,048,312 (GRCm39)	D258G	possibly damaging	Het
Atf1	G	T	15: 100,152,395 (GRCm39)		probably null	Het
Atp1a4	C	T	1: 172,067,731 (GRCm39)	E511K	probably benign	Het
Atp8a1	A	G	5: 67,825,000 (GRCm39)	V777A	probably benign	Het
Baz1a	T	C	12: 54,947,122 (GRCm39)	T1173A	possibly damaging	Het
Bdh2	A	T	3: 134,991,370 (GRCm39)	D15V	probably benign	Het
Cacna1e	T	C	1: 154,576,240 (GRCm39)	Y69C	probably damaging	Het
Caskin2	A	G	11: 115,694,440 (GRCm39)	L387P	probably benign	Het
Cat	T	C	2: 103,315,334 (GRCm39)	E17G	probably benign	Het
Ccdc15	T	C	9: 37,259,091 (GRCm39)	I54M	probably benign	Het
Ccn1	T	C	3: 145,353,965 (GRCm39)	Y275C	probably damaging	Het
Cdhr1	T	G	14: 36,801,682 (GRCm39)	I754L	probably benign	Het
Cep120	G	A	18: 53,856,313 (GRCm39)	T368I	probably benign	Het
Cep126	C	A	9: 8,100,909 (GRCm39)	D542Y	probably damaging	Het
Cep135	T	C	5: 76,772,594 (GRCm39)	S660P	possibly damaging	Het
Cfap70	A	T	14: 20,470,879 (GRCm39)	S455R	possibly damaging	Het
Chd8	A	G	14: 52,458,450 (GRCm39)	M886T	probably damaging	Het
Ckap5	T	C	2: 91,416,688 (GRCm39)	S1098P	probably benign	Het
Clec4e	A	T	6: 123,260,533 (GRCm39)	I204N	probably damaging	Het
Cntnap5c	G	A	17: 58,666,291 (GRCm39)	R1107H	probably damaging	Het
Cramp1	T	C	17: 25,183,913 (GRCm39)	D1234G	probably damaging	Het
Csf1r	A	T	18: 61,245,867 (GRCm39)	I275L	probably benign	Het
Cyp27a1	A	G	1: 74,776,435 (GRCm39)	E457G	probably benign	Het
Cyp2d11	T	C	15: 82,273,749 (GRCm39)	T410A	probably benign	Het
Cyp2d22	G	C	15: 82,257,373 (GRCm39)	T264S	probably benign	Het
Daam2	G	A	17: 49,790,088 (GRCm39)	R390W	probably damaging	Het
Decr2	T	C	17: 26,302,053 (GRCm39)	S226G	probably benign	Het
Dennd6b	T	C	15: 89,074,544 (GRCm39)	D91G	possibly damaging	Het
Dglucy	T	C	12: 100,825,903 (GRCm39)	V515A	possibly damaging	Het
Dlg5	A	T	14: 24,214,187 (GRCm39)	L734*	probably null	Het
Dop1b	A	G	16: 93,579,307 (GRCm39)	N1690D	probably damaging	Het
Fut7	T	A	2: 25,315,738 (GRCm39)	V332D	probably benign	Het
Gnas	T	C	2: 174,140,526 (GRCm39)	S232P	probably damaging	Het
Gramd4	A	G	15: 86,017,106 (GRCm39)	E522G	probably damaging	Het
Gys1	A	G	7: 45,092,970 (GRCm39)	T297A	probably damaging	Het
Herc4	T	C	10: 63,109,304 (GRCm39)	S180P	probably benign	Het
Hivep3	C	T	4: 119,953,435 (GRCm39)	P584S	possibly damaging	Het
Irag2	T	A	6: 145,115,499 (GRCm39)	S310T	probably damaging	Het
Itpk1	G	T	12: 102,641,729 (GRCm39)		probably null	Het
Jmjd1c	A	T	10: 67,061,219 (GRCm39)	S1191C	probably damaging	Het
Lima1	T	C	15: 99,717,565 (GRCm39)	N147S	probably benign	Het
Map4k5	G	A	12: 69,865,266 (GRCm39)	T506I	probably damaging	Het
Mat1a	A	T	14: 40,832,991 (GRCm39)	E58V	probably damaging	Het
Mfsd13a	T	C	19: 46,360,492 (GRCm39)	L348P	probably damaging	Het
Mon2	A	G	10: 122,845,470 (GRCm39)	Y1413H	probably damaging	Het
Mpp3	C	A	11: 101,909,378 (GRCm39)		probably benign	Het
Mpp4	T	A	1: 59,183,961 (GRCm39)	I260F	probably damaging	Het
Myocd	C	A	11: 65,091,733 (GRCm39)	G70C	probably damaging	Het
Nckap1	C	T	2: 80,348,286 (GRCm39)	S889N	probably benign	Het
Nckap5	T	A	1: 125,942,367 (GRCm39)	D209V	probably damaging	Het
Nlrp9a	A	G	7: 26,264,366 (GRCm39)	K707R	probably benign	Het
Npr3	A	G	15: 11,905,055 (GRCm39)	L224S	probably benign	Het
Or5m9b	T	A	2: 85,905,549 (GRCm39)	L155Q	probably damaging	Het
Or5w20	T	A	2: 87,727,383 (GRCm39)	V280E	probably damaging	Het
Or6c74	A	G	10: 129,869,602 (GRCm39)	S36G	probably damaging	Het
Otof	C	T	5: 30,545,998 (GRCm39)	D467N	probably damaging	Het
Paxx	T	C	2: 25,350,640 (GRCm39)		probably benign	Het
Pcmt1	G	A	10: 7,516,474 (GRCm39)	R179*	probably null	Het
Phkb	T	A	8: 86,697,580 (GRCm39)	V463D	probably benign	Het
Prkcq	T	C	2: 11,250,208 (GRCm39)	V175A	probably damaging	Het
Rasl11b	T	G	5: 74,356,797 (GRCm39)	I58S	probably damaging	Het
Rb1cc1	A	T	1: 6,318,419 (GRCm39)		probably null	Het
Reck	T	A	4: 43,913,771 (GRCm39)		probably null	Het
Riox1	G	T	12: 83,998,156 (GRCm39)	D231Y	probably damaging	Het
Rlf	T	A	4: 121,005,617 (GRCm39)	N1231I	probably damaging	Het
Rpn1	A	G	6: 88,072,530 (GRCm39)	D291G	possibly damaging	Het
Samsn1	C	T	16: 75,742,461 (GRCm39)		noncoding transcript	Het
Scara5	T	C	14: 65,927,249 (GRCm39)	C49R	possibly damaging	Het
Serpini1	A	G	3: 75,521,785 (GRCm39)	D92G	probably benign	Het
Setdb2	A	T	14: 59,656,858 (GRCm39)	L153Q	probably damaging	Het
Sh3rf3	C	T	10: 58,649,809 (GRCm39)	T138M	probably benign	Het
Shkbp1	C	T	7: 27,054,825 (GRCm39)		probably null	Het
Slc22a29	G	A	19: 8,195,707 (GRCm39)	P111S	probably benign	Het
Smarca1	A	G	X: 46,941,564 (GRCm39)	V618A	probably damaging	Het
Spef2	T	A	15: 9,609,602 (GRCm39)	M1308L	probably damaging	Het
Spink5	A	G	18: 44,123,775 (GRCm39)	N354S	probably benign	Het
Srrm2	T	C	17: 24,040,465 (GRCm39)	S2370P	probably damaging	Het
Ssxb3	A	T	X: 8,454,905 (GRCm39)	I28N	probably damaging	Het
Sucla2	A	G	14: 73,831,119 (GRCm39)	T411A	probably damaging	Het
Tex38	A	C	4: 115,637,537 (GRCm39)	S89A	probably benign	Het
Tjp2	A	T	19: 24,088,437 (GRCm39)	D723E	probably damaging	Het
Tln2	A	T	9: 67,163,183 (GRCm39)	N1121K	probably damaging	Het
Tti1	T	C	2: 157,850,966 (GRCm39)	E91G	possibly damaging	Het
Wbp2	A	T	11: 115,973,191 (GRCm39)	M72K	possibly damaging	Het
Wdfy4	C	A	14: 32,828,001 (GRCm39)	C1062F	possibly damaging	Het
Wiz	A	G	17: 32,578,346 (GRCm39)	Y389H	probably damaging	Het
Zcchc3	T	C	2: 152,256,012 (GRCm39)	K229R	probably damaging	Het
Zmat3	C	A	3: 32,415,131 (GRCm39)	D60Y	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
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
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

Predicted Primers

PCR Primer
(F):5'- AGGGTTTGGCCAATAGCAC -3'
(R):5'- GCGTACATTAGGCTGCTCTC -3'

Sequencing Primer
(F):5'- TGAAGAGCTATTCACAGCAAATC -3'
(R):5'- GGTCATTTCTACCACTTAATGACAG -3'

Posted On

2014-08-25