Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01559:Exoc4'

90789

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Exoc4

Ensembl Gene

ENSMUSG00000029763

Gene Name

exocyst complex component 4

Synonyms

Sec8, Sec8l1

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01559

Quality Score

Status

Chromosome

Chromosomal Location

33226025-33950914 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 33243011 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 75 (T75A)

Ref Sequence

ENSEMBL: ENSMUSP00000087859 (fasta)

Gene Model

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

AlphaFold

O35382

Predicted Effect

probably benign
Transcript: ENSMUST00000052266
AA Change: T75A

PolyPhen 2 Score 0.174 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000051965
Gene: ENSMUSG00000029763
AA Change: T75A

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

probably damaging
Transcript: ENSMUST00000090381
AA Change: T75A

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000087859
Gene: ENSMUSG00000029763
AA Change: T75A

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

possibly damaging
Transcript: ENSMUST00000115080
AA Change: T75A

PolyPhen 2 Score 0.461 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000110732
Gene: ENSMUSG00000029763
AA Change: T75A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132842

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137043

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139132

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. 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: 20 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	A	11: 9,259,020 (GRCm39)	N2915K	possibly damaging	Het
Abca5	T	C	11: 110,163,352 (GRCm39)	N1621S	probably benign	Het
Asb18	G	A	1: 89,882,172 (GRCm39)	S122F	probably damaging	Het
Atg4c	A	G	4: 99,106,440 (GRCm39)		probably benign	Het
Bbs7	T	C	3: 36,648,659 (GRCm39)	Y363C	probably damaging	Het
Celsr2	T	C	3: 108,314,183 (GRCm39)	T1281A	possibly damaging	Het
Cers1	A	G	8: 70,775,883 (GRCm39)	N295S	probably damaging	Het
Csn1s2b	A	T	5: 87,968,810 (GRCm39)	K80*	probably null	Het
Dennd6a	A	G	14: 26,329,720 (GRCm39)	D97G	probably damaging	Het
Dmxl1	A	G	18: 50,054,005 (GRCm39)	Y2537C	probably damaging	Het
Dnah6	A	G	6: 73,001,235 (GRCm39)		probably null	Het
Fbll1	T	C	11: 35,688,372 (GRCm39)	E297G	probably damaging	Het
Gm10642	T	A	9: 70,563,874 (GRCm39)	D152V	probably damaging	Het
Hdac3	A	G	18: 38,076,725 (GRCm39)		probably benign	Het
Kif17	A	G	4: 138,021,080 (GRCm39)	I850V	probably damaging	Het
Or2l13	T	C	16: 19,306,209 (GRCm39)	L207P	probably benign	Het
Pi4kb	T	A	3: 94,891,440 (GRCm39)	L52Q	probably benign	Het
Sec14l1	C	A	11: 117,034,110 (GRCm39)		probably null	Het
Slc28a2	T	A	2: 122,285,021 (GRCm39)	H336Q	probably damaging	Het
Usp17lb	A	G	7: 104,490,436 (GRCm39)	S164P	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
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
R9711:Exoc4	UTSW	6	33,452,991 (GRCm39)	missense	unknown
X0066:Exoc4	UTSW	6	33,792,625 (GRCm39)	missense	probably damaging	0.99

Posted On

2013-12-09