Mutagenetix > Incidental Mutations

Incidental Mutation 'R0068:Exoc7'

16480

Institutional Source

Beutler Lab

Gene Symbol

Exoc7

Ensembl Gene

ENSMUSG00000020792

Gene Name

exocyst complex component 7

Synonyms

sec70, Exo70, 70kDa

MMRRC Submission

038359-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.934) question?

Stock #

R0068 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

116288001-116307233 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 116304906 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 83 (Y83C)

Ref Sequence

ENSEMBL: ENSMUSP00000121794 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021147] [ENSMUST00000106411] [ENSMUST00000106413] [ENSMUST00000124281] [ENSMUST00000126731] [ENSMUST00000133468]

Predicted Effect

probably damaging
Transcript: ENSMUST00000021147
AA Change: Y90C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000021147
Gene: ENSMUSG00000020792
AA Change: Y90C

Domain	Start	End	E-Value	Type
coiled coil region	5	37	N/A	INTRINSIC
low complexity region	177	191	N/A	INTRINSIC
Pfam:Exo70	310	691	6.9e-76	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000106411
AA Change: Y90C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000102019
Gene: ENSMUSG00000020792
AA Change: Y90C

Domain	Start	End	E-Value	Type
coiled coil region	5	37	N/A	INTRINSIC
low complexity region	177	191	N/A	INTRINSIC
Pfam:Exo70	278	648	4e-82	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000106413
AA Change: Y90C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000102021
Gene: ENSMUSG00000020792
AA Change: Y90C

Domain	Start	End	E-Value	Type
coiled coil region	5	37	N/A	INTRINSIC
low complexity region	177	191	N/A	INTRINSIC
Pfam:Exo70	309	679	6.4e-83	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000124281

Predicted Effect

probably damaging
Transcript: ENSMUST00000126731
AA Change: Y83C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000121794
Gene: ENSMUSG00000020792
AA Change: Y83C

Domain	Start	End	E-Value	Type
coiled coil region	1	30	N/A	INTRINSIC
PDB:2PFT\|A	78	265	1e-113	PDB

Predicted Effect

probably damaging
Transcript: ENSMUST00000133468
AA Change: Y68C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000121150
Gene: ENSMUSG00000020792
AA Change: Y68C

Domain	Start	End	E-Value	Type
PDB:2PFT\|A	63	105	3e-23	PDB

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139699

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181270

Meta Mutation Damage Score

0.7296

Coding Region Coverage

1x: 89.9%
3x: 97.6%
10x: 82.1%
20x: 74.0%

Validation Efficiency

94% (83/88)

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. The exocyst complex plays a critical role in vesicular trafficking and the secretory pathway by targeting post-Golgi vesicles to the plasma membrane. The encoded protein is required for assembly of the exocyst complex and docking of the complex to the plasma membrane. The encoded protein may also play a role in pre-mRNA splicing through interactions with pre-mRNA-processing factor 19. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 4. [provided by RefSeq, Nov 2011]

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	A	G	3: 36,952,221	T1675A	probably benign	Het
Abca9	T	C	11: 110,145,579	N568S	probably damaging	Het
AC104834.1	A	T	15: 101,054,248	I51N	probably damaging	Het
Aldoart2	G	T	12: 55,565,448	E53*	probably null	Het
Ankra2	C	T	13: 98,273,383	Q137*	probably null	Het
Arpc1a	C	T	5: 145,091,244	T21I	possibly damaging	Het
Arvcf	T	C	16: 18,396,954		probably benign	Het
Ash1l	C	A	3: 89,007,317	S1751R	probably benign	Het
Bsn	C	A	9: 108,112,137	G2139C	probably damaging	Het
Cbl	A	T	9: 44,154,194	S22T	probably damaging	Het
Ccdc148	T	C	2: 58,827,617	E530G	probably benign	Het
Cct3	A	G	3: 88,318,465	D365G	probably benign	Het
Cep85	A	T	4: 134,154,295	H332Q	probably benign	Het
Cwf19l1	A	T	19: 44,131,499	Y68N	probably damaging	Het
Dlc1	T	A	8: 36,937,721	M305L	probably benign	Het
Dnm1l	C	A	16: 16,324,019	G288C	probably damaging	Het
Flnb	A	G	14: 7,915,290	N1474D	possibly damaging	Het
Ghrhr	C	T	6: 55,380,864		probably benign	Het
Gucy1b1	T	C	3: 82,034,878	T525A	probably benign	Het
Hhip	T	G	8: 79,989,256	D557A	probably damaging	Het
Hps5	A	G	7: 46,777,042		probably benign	Het
Igsf10	A	T	3: 59,330,624	V712D	probably damaging	Het
Irf6	G	T	1: 193,165,759		probably benign	Het
Itpr3	T	C	17: 27,104,060		probably benign	Het
Jag2	A	G	12: 112,915,193		probably benign	Het
Kansl1l	A	G	1: 66,720,888	V911A	probably benign	Het
Kdm3b	C	T	18: 34,824,774	T1064I	probably benign	Het
Lrriq1	T	A	10: 103,063,418	Q1654L	probably benign	Het
Ltbp1	A	G	17: 75,359,409	T1366A	probably damaging	Het
Mroh1	A	G	15: 76,446,692		probably benign	Het
Napb	G	A	2: 148,698,923		probably benign	Het
Nebl	T	A	2: 17,434,971	R164*	probably null	Het
Npc1	G	C	18: 12,208,367	P532A	probably benign	Het
Nrp2	G	T	1: 62,745,377	K228N	possibly damaging	Het
Olfr275	T	A	4: 52,825,503	Y35*	probably null	Het
Plekhg1	A	T	10: 3,940,502	Y386F	probably damaging	Het
Pmfbp1	G	C	8: 109,542,379		probably benign	Het
Poln	T	C	5: 34,077,088		probably benign	Het
Polr1c	A	G	17: 46,244,903	V200A	probably benign	Het
Ppil1	A	T	17: 29,252,256	F92I	probably damaging	Het
Ptchd3	T	G	11: 121,842,972	L896R	probably damaging	Het
Rev3l	A	G	10: 39,824,831	N1775D	possibly damaging	Het
Robo4	G	A	9: 37,404,477	R342Q	probably benign	Het
Rusc2	T	C	4: 43,424,100		probably benign	Het
S100pbp	T	C	4: 129,144,456		probably benign	Het
Slc25a48	T	C	13: 56,451,211	V118A	probably damaging	Het
Slc38a10	T	C	11: 120,134,853	D219G	probably damaging	Het
Slc38a2	C	T	15: 96,691,292		probably null	Het
Slc39a12	A	G	2: 14,435,678	E480G	probably benign	Het
Tab2	C	A	10: 7,919,677	R347L	probably damaging	Het
Tas2r123	T	C	6: 132,847,992	I284T	possibly damaging	Het
Tex9	A	G	9: 72,486,769		probably benign	Het
Tifab	A	G	13: 56,176,405	L75P	probably damaging	Het
Tmc5	T	A	7: 118,634,237	D91E	probably benign	Het
Tnks1bp1	T	A	2: 85,062,352	D212E	probably benign	Het
Ugcg	A	G	4: 59,217,130	D218G	probably benign	Het
Zfp451	A	T	1: 33,777,625	L198I	probably damaging	Het

Other mutations in Exoc7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01999:Exoc7	APN	11	116301100	splice site	probably null
IGL02825:Exoc7	APN	11	116297585	missense	probably damaging	0.98
IGL03068:Exoc7	APN	11	116301134	missense	possibly damaging	0.70
IGL03333:Exoc7	APN	11	116301161	missense	probably benign	0.17
IGL03412:Exoc7	APN	11	116289275	missense	possibly damaging	0.57
IGL02799:Exoc7	UTSW	11	116301181	missense	probably damaging	1.00
R0022:Exoc7	UTSW	11	116297582	missense	possibly damaging	0.62
R0158:Exoc7	UTSW	11	116295292	missense	probably benign	0.01
R0362:Exoc7	UTSW	11	116295662	missense	probably benign	0.37
R0387:Exoc7	UTSW	11	116294401	unclassified	probably benign
R0394:Exoc7	UTSW	11	116300398	missense	probably damaging	0.99
R0714:Exoc7	UTSW	11	116293294	missense	probably benign	0.16
R0848:Exoc7	UTSW	11	116295248	missense	possibly damaging	0.93
R1611:Exoc7	UTSW	11	116295265	missense	possibly damaging	0.84
R1795:Exoc7	UTSW	11	116292521	missense	probably damaging	0.98
R2259:Exoc7	UTSW	11	116306411	missense	probably damaging	1.00
R3911:Exoc7	UTSW	11	116306905	missense	probably benign	0.12
R3913:Exoc7	UTSW	11	116306905	missense	probably benign	0.12
R3979:Exoc7	UTSW	11	116296762	missense	probably benign	0.30
R4029:Exoc7	UTSW	11	116306988	unclassified	probably benign
R4576:Exoc7	UTSW	11	116289183	makesense	probably null
R4983:Exoc7	UTSW	11	116289269	missense	probably damaging	1.00
R5309:Exoc7	UTSW	11	116305027	nonsense	probably null
R6453:Exoc7	UTSW	11	116293969	splice site	probably null
R7275:Exoc7	UTSW	11	116304862	critical splice donor site	probably null
R7585:Exoc7	UTSW	11	116300298	missense	probably benign	0.00
R7609:Exoc7	UTSW	11	116289259	missense	possibly damaging	0.63
R7774:Exoc7	UTSW	11	116295316	missense	possibly damaging	0.80
X0063:Exoc7	UTSW	11	116304949	missense	probably damaging	1.00

Posted On

2013-01-20