Mutagenetix > Incidental Mutation

Incidental Mutation 'R0158:Exoc7'

22995

Institutional Source

Beutler Lab

Gene Symbol

Exoc7

Ensembl Gene

ENSMUSG00000020792

Gene Name

exocyst complex component 7

Synonyms

70kDa, Exo70, sec70

MMRRC Submission

038438-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.934) question?

Stock #

R0158 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

116178823-116197574 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 116186118 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 361 (N361S)

Ref Sequence

ENSEMBL: ENSMUSP00000102021 (fasta)

Gene Model

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

AlphaFold

O35250

Predicted Effect

probably benign
Transcript: ENSMUST00000021147
AA Change: N361S

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000021147
Gene: ENSMUSG00000020792
AA Change: N361S

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 benign
Transcript: ENSMUST00000106411
AA Change: N330S

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000102019
Gene: ENSMUSG00000020792
AA Change: N330S

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 benign
Transcript: ENSMUST00000106413
AA Change: N361S

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000102021
Gene: ENSMUSG00000020792
AA Change: N361S

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: ENSMUST00000126731

SMART Domains

Protein: ENSMUSP00000121794
Gene: ENSMUSG00000020792

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136417

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139699

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141938

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155288

Meta Mutation Damage Score

0.2368

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 95.3%
20x: 89.1%

Validation Efficiency

93% (79/85)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcf3	C	T	16: 20,371,316 (GRCm39)	R437C	probably damaging	Het
Abhd3	A	G	18: 10,647,840 (GRCm39)	Y315H	possibly damaging	Het
Adam19	C	T	11: 46,033,861 (GRCm39)	P891L	probably damaging	Het
Ampd1	T	A	3: 102,999,046 (GRCm39)	Y400*	probably null	Het
Ap1g1	T	C	8: 110,582,267 (GRCm39)	S724P	probably benign	Het
Bst2	T	A	8: 71,989,861 (GRCm39)	T71S	possibly damaging	Het
C3	A	G	17: 57,531,851 (GRCm39)		probably null	Het
Cacna2d1	C	A	5: 16,566,815 (GRCm39)		probably benign	Het
Cacna2d4	C	T	6: 119,213,709 (GRCm39)	H43Y	possibly damaging	Het
Ccdc71	T	G	9: 108,341,336 (GRCm39)	V383G	probably benign	Het
Cd109	A	T	9: 78,596,214 (GRCm39)	Q849L	possibly damaging	Het
Cdkn2a	A	T	4: 89,195,004 (GRCm39)	H115Q	possibly damaging	Het
Ces1e	T	C	8: 93,946,057 (GRCm39)	E161G	probably benign	Het
Cggbp1	C	T	16: 64,676,201 (GRCm39)	S89L	possibly damaging	Het
Crocc	A	T	4: 140,769,553 (GRCm39)		probably benign	Het
Cspg4b	T	A	13: 113,505,687 (GRCm39)	L2272*	probably null	Het
Eef1akmt3	G	A	10: 126,869,142 (GRCm39)	Q111*	probably null	Het
Fat2	G	T	11: 55,187,011 (GRCm39)	S1278R	probably benign	Het
Fbxo42	A	G	4: 140,927,640 (GRCm39)	N640S	probably benign	Het
Fbxw25	A	G	9: 109,483,720 (GRCm39)	V164A	possibly damaging	Het
Fcgbpl1	A	G	7: 27,854,917 (GRCm39)	I1848V	probably damaging	Het
Foxs1	T	C	2: 152,774,330 (GRCm39)	E241G	probably damaging	Het
Fras1	A	T	5: 96,924,493 (GRCm39)	I3645F	possibly damaging	Het
Gm14496	T	A	2: 181,639,206 (GRCm39)	V432E	probably benign	Het
H3c2	T	A	13: 23,936,693 (GRCm39)	C111S	probably damaging	Het
Herc1	T	A	9: 66,403,203 (GRCm39)	L4374*	probably null	Het
Ift122	T	C	6: 115,901,445 (GRCm39)		probably benign	Het
Itgav	C	A	2: 83,622,381 (GRCm39)	N654K	probably benign	Het
Itih5	T	C	2: 10,239,803 (GRCm39)		probably benign	Het
Jak2	C	A	19: 29,289,157 (GRCm39)	T1103K	probably benign	Het
Kcnc4	C	A	3: 107,365,920 (GRCm39)	C96F	probably benign	Het
Med13l	C	A	5: 118,880,514 (GRCm39)	S1202Y	unknown	Het
Mefv	T	C	16: 3,533,320 (GRCm39)	E317G	possibly damaging	Het
Ncoa2	T	C	1: 13,222,608 (GRCm39)	T1226A	probably benign	Het
Nktr	C	T	9: 121,579,757 (GRCm39)		probably benign	Het
Nudt5	G	A	2: 5,867,114 (GRCm39)	V61M	probably damaging	Het
Or51a39	C	T	7: 102,363,162 (GRCm39)	A153T	probably benign	Het
Pakap	A	G	4: 57,709,649 (GRCm39)	D198G	possibly damaging	Het
Pcdhb2	A	C	18: 37,430,283 (GRCm39)	Y752S	probably damaging	Het
Pcnx4	A	G	12: 72,603,076 (GRCm39)	D446G	probably benign	Het
Pnp2	G	A	14: 51,201,761 (GRCm39)	R249H	probably damaging	Het
Rgs3	A	T	4: 62,542,121 (GRCm39)	I32F	probably damaging	Het
Rnf139	A	G	15: 58,770,727 (GRCm39)	T251A	probably benign	Het
Rnf41	A	G	10: 128,274,104 (GRCm39)	E252G	probably damaging	Het
Rxfp2	T	A	5: 149,975,093 (GRCm39)	F220Y	probably benign	Het
Sdcbp	A	G	4: 6,379,042 (GRCm39)	D43G	possibly damaging	Het
Serpina3f	A	G	12: 104,183,267 (GRCm39)	D43G	probably damaging	Het
Sftpc	T	C	14: 70,758,887 (GRCm39)	K154R	probably null	Het
Simc1	A	G	13: 54,672,530 (GRCm39)	T293A	probably benign	Het
Skint6	A	T	4: 113,042,011 (GRCm39)		probably benign	Het
Slc6a15	T	C	10: 103,225,208 (GRCm39)		probably benign	Het
Spata31e2	T	G	1: 26,723,032 (GRCm39)	H716P	probably damaging	Het
Ston2	A	T	12: 91,707,376 (GRCm39)	I78N	probably damaging	Het
Taok3	T	C	5: 117,355,307 (GRCm39)		probably null	Het
Tent4b	G	A	8: 88,977,371 (GRCm39)	G391D	probably damaging	Het
Tiam1	C	T	16: 89,589,889 (GRCm39)		probably benign	Het
Tnfsf15	T	C	4: 63,648,229 (GRCm39)	H137R	possibly damaging	Het
Tpte	G	A	8: 22,817,755 (GRCm39)	R247H	possibly damaging	Het
Trim2	T	C	3: 84,117,476 (GRCm39)		probably benign	Het
Ulk1	A	T	5: 110,936,810 (GRCm39)		probably benign	Het
Utp4	T	G	8: 107,640,018 (GRCm39)	H442Q	probably null	Het
Vmn1r193	T	A	13: 22,403,798 (GRCm39)	I65F	probably damaging	Het
Vps54	A	T	11: 21,256,962 (GRCm39)	Q690L	probably damaging	Het
Ybx2	T	C	11: 69,831,145 (GRCm39)		probably benign	Het
Zbtb38	C	T	9: 96,568,993 (GRCm39)	G697D	possibly damaging	Het
Zfp202	C	T	9: 40,120,212 (GRCm39)	Q218*	probably null	Het
Zfp820	G	A	17: 22,038,800 (GRCm39)	T176I	probably benign	Het

Other mutations in Exoc7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01999:Exoc7	APN	11	116,191,926 (GRCm39)	splice site	probably null
IGL02825:Exoc7	APN	11	116,188,411 (GRCm39)	missense	probably damaging	0.98
IGL03068:Exoc7	APN	11	116,191,960 (GRCm39)	missense	possibly damaging	0.70
IGL03333:Exoc7	APN	11	116,191,987 (GRCm39)	missense	probably benign	0.17
IGL03412:Exoc7	APN	11	116,180,101 (GRCm39)	missense	possibly damaging	0.57
IGL02799:Exoc7	UTSW	11	116,192,007 (GRCm39)	missense	probably damaging	1.00
R0022:Exoc7	UTSW	11	116,188,408 (GRCm39)	missense	possibly damaging	0.62
R0068:Exoc7	UTSW	11	116,195,732 (GRCm39)	missense	probably damaging	1.00
R0362:Exoc7	UTSW	11	116,186,488 (GRCm39)	missense	probably benign	0.37
R0387:Exoc7	UTSW	11	116,185,227 (GRCm39)	unclassified	probably benign
R0394:Exoc7	UTSW	11	116,191,224 (GRCm39)	missense	probably damaging	0.99
R0714:Exoc7	UTSW	11	116,184,120 (GRCm39)	missense	probably benign	0.16
R0848:Exoc7	UTSW	11	116,186,074 (GRCm39)	missense	possibly damaging	0.93
R1611:Exoc7	UTSW	11	116,186,091 (GRCm39)	missense	possibly damaging	0.84
R1795:Exoc7	UTSW	11	116,183,347 (GRCm39)	missense	probably damaging	0.98
R2259:Exoc7	UTSW	11	116,197,237 (GRCm39)	missense	probably damaging	1.00
R3911:Exoc7	UTSW	11	116,197,731 (GRCm39)	missense	probably benign	0.12
R3913:Exoc7	UTSW	11	116,197,731 (GRCm39)	missense	probably benign	0.12
R3979:Exoc7	UTSW	11	116,187,588 (GRCm39)	missense	probably benign	0.30
R4029:Exoc7	UTSW	11	116,197,814 (GRCm39)	unclassified	probably benign
R4576:Exoc7	UTSW	11	116,180,009 (GRCm39)	makesense	probably null
R4983:Exoc7	UTSW	11	116,180,095 (GRCm39)	missense	probably damaging	1.00
R5309:Exoc7	UTSW	11	116,195,853 (GRCm39)	nonsense	probably null
R6453:Exoc7	UTSW	11	116,184,795 (GRCm39)	splice site	probably null
R7275:Exoc7	UTSW	11	116,195,688 (GRCm39)	critical splice donor site	probably null
R7585:Exoc7	UTSW	11	116,191,124 (GRCm39)	missense	probably benign	0.00
R7609:Exoc7	UTSW	11	116,180,085 (GRCm39)	missense	possibly damaging	0.63
R7774:Exoc7	UTSW	11	116,186,142 (GRCm39)	missense	possibly damaging	0.80
R7921:Exoc7	UTSW	11	116,188,508 (GRCm39)	splice site	probably null
R8007:Exoc7	UTSW	11	116,197,465 (GRCm39)	missense	possibly damaging	0.93
R8920:Exoc7	UTSW	11	116,180,055 (GRCm39)	missense	probably benign	0.18
R9063:Exoc7	UTSW	11	116,180,101 (GRCm39)	missense	probably benign	0.06
R9567:Exoc7	UTSW	11	116,195,724 (GRCm39)	missense	probably benign	0.25
X0063:Exoc7	UTSW	11	116,195,775 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCATCTTGACTTGTCCAAAGCCCC -3'
(R):5'- CACTGCCCCATGTAGCTGTTACTG -3'

Sequencing Primer
(F):5'- tgtgtctatctgtgtgtgtctatc -3'
(R):5'- TCTAGAGGGTGGGGCAGC -3'

Posted On

2013-04-16