Mutagenetix > Incidental Mutation

Incidental Mutation 'R0848:Exoc7'

77445

Institutional Source

Beutler Lab

Gene Symbol

Exoc7

Ensembl Gene

ENSMUSG00000020792

Gene Name

exocyst complex component 7

Synonyms

70kDa, Exo70, sec70

MMRRC Submission

039027-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.934) question?

Stock #

R0848 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

116178823-116197574 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 116186074 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 376 (S376P)

Ref Sequence

ENSEMBL: ENSMUSP00000021147 (fasta)

Gene Model

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

AlphaFold

O35250

PDB Structure

The Crystal Structure of Mouse Exo70 Reveals Unique Features of the Mammalian Exocyst [X-RAY DIFFRACTION]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000021147
AA Change: S376P

PolyPhen 2 Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000021147
Gene: ENSMUSG00000020792
AA Change: S376P

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: S345P

PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000102019
Gene: ENSMUSG00000020792
AA Change: S345P

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: S376P

PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000102021
Gene: ENSMUSG00000020792
AA Change: S376P

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

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 97.3%
20x: 94.5%

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. 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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aass	A	T	6: 23,114,984 (GRCm39)	H181Q	probably damaging	Het
Abca13	T	A	11: 9,632,011 (GRCm39)	L4977*	probably null	Het
Abca8a	T	A	11: 109,919,016 (GRCm39)	Y1550F	probably damaging	Het
Actr2	C	T	11: 20,022,584 (GRCm39)	E296K	probably benign	Het
Agtpbp1	A	T	13: 59,681,753 (GRCm39)		probably benign	Het
Anks1b	A	C	10: 89,906,987 (GRCm39)	E268A	probably damaging	Het
C1rl	A	G	6: 124,485,465 (GRCm39)	T279A	probably benign	Het
C5ar2	T	C	7: 15,971,526 (GRCm39)	T134A	probably benign	Het
Cdkl3	G	A	11: 51,902,094 (GRCm39)	R101Q	probably damaging	Het
Celsr2	A	T	3: 108,321,654 (GRCm39)	F386Y	probably benign	Het
Chd1	C	T	17: 15,990,503 (GRCm39)	P1685L	probably damaging	Het
Chrne	G	T	11: 70,506,239 (GRCm39)	H402Q	probably benign	Het
Clvs1	A	G	4: 9,282,003 (GRCm39)	D149G	possibly damaging	Het
Cntnap5b	T	C	1: 100,182,888 (GRCm39)	Y620H	probably benign	Het
Col6a1	A	G	10: 76,549,458 (GRCm39)		probably null	Het
Cyp2d26	T	A	15: 82,674,434 (GRCm39)	I483F	probably benign	Het
Dlx6	C	T	6: 6,863,665 (GRCm39)	Q96*	probably null	Het
Dmac2l	A	T	12: 69,788,584 (GRCm39)	H161L	probably benign	Het
Eif1a	T	A	18: 46,741,114 (GRCm39)	N116K	possibly damaging	Het
Epb41l5	A	T	1: 119,477,684 (GRCm39)	C696S	probably benign	Het
Fads1	C	T	19: 10,160,429 (GRCm39)	P5L	probably benign	Het
G3bp1	T	C	11: 55,389,452 (GRCm39)	F383L	probably damaging	Het
Gimap7	T	C	6: 48,700,657 (GRCm39)	I81T	probably damaging	Het
Gtf2a1l	T	C	17: 89,001,657 (GRCm39)	V171A	probably damaging	Het
Hax1	A	G	3: 89,902,940 (GRCm39)	S253P	probably damaging	Het
Hsd3b5	A	T	3: 98,526,671 (GRCm39)	D258E	probably damaging	Het
Kcnb1	G	T	2: 166,948,187 (GRCm39)	F220L	probably damaging	Het
Kif1a	T	A	1: 92,947,620 (GRCm39)	Y1708F	probably damaging	Het
Krt14	A	T	11: 100,095,090 (GRCm39)	I379N	probably damaging	Het
Lpxn	A	G	19: 12,781,401 (GRCm39)	I40V	probably benign	Het
Lrp1	C	T	10: 127,389,231 (GRCm39)		probably null	Het
Lyst	G	A	13: 13,809,515 (GRCm39)	R395H	probably benign	Het
Mindy4	G	A	6: 55,295,271 (GRCm39)	W737*	probably null	Het
Mki67	C	A	7: 135,302,772 (GRCm39)	R754L	probably benign	Het
Morf4l1	A	G	9: 89,982,502 (GRCm39)	V144A	probably benign	Het
Mvb12a	T	C	8: 71,998,422 (GRCm39)	S186P	probably benign	Het
Myrf	G	C	19: 10,195,526 (GRCm39)	T428S	probably benign	Het
Nipal1	A	G	5: 72,825,183 (GRCm39)	N292S	probably damaging	Het
Nqo2	T	G	13: 34,156,461 (GRCm39)		probably null	Het
Or14a256	T	C	7: 86,264,848 (GRCm39)	Y335C	probably damaging	Het
Or2d3b	A	G	7: 106,514,200 (GRCm39)	K265R	probably benign	Het
Or5ak24	A	T	2: 85,260,365 (GRCm39)	N269K	probably benign	Het
Or6c214	C	T	10: 129,591,077 (GRCm39)	V81I	probably benign	Het
Osbpl7	C	A	11: 96,951,350 (GRCm39)	P507Q	probably damaging	Het
Pcdhb1	G	A	18: 37,400,475 (GRCm39)	G809S	probably benign	Het
Pcm1	T	C	8: 41,735,720 (GRCm39)	V846A	probably damaging	Het
Phf3	A	G	1: 30,902,253 (GRCm39)	L20P	probably damaging	Het
Pih1d1	A	G	7: 44,807,041 (GRCm39)	T58A	probably damaging	Het
Plekhn1	A	G	4: 156,308,021 (GRCm39)		probably null	Het
Plvap	A	T	8: 71,959,526 (GRCm39)	L422Q	probably damaging	Het
Polq	C	T	16: 36,882,492 (GRCm39)	A1273V	probably benign	Het
Prelid2	T	A	18: 42,068,289 (GRCm39)	I51F	probably damaging	Het
Ptpn18	G	A	1: 34,501,783 (GRCm39)	D8N	probably damaging	Het
Ptpra	T	A	2: 130,360,911 (GRCm39)	F190Y	probably damaging	Het
Pus7l	A	G	15: 94,438,393 (GRCm39)	S151P	probably benign	Het
Rsph6a	G	A	7: 18,791,595 (GRCm39)	D255N	probably benign	Het
Serpinb6c	A	T	13: 34,083,288 (GRCm39)	V42D	probably damaging	Het
Slc7a13	A	G	4: 19,818,866 (GRCm39)	N22S	probably benign	Het
Snx5	G	A	2: 144,095,726 (GRCm39)	R312C	probably damaging	Het
Stard9	T	C	2: 120,526,304 (GRCm39)	S854P	probably damaging	Het
Syne2	AAGAG	AAGAGAGAG	12: 76,144,733 (GRCm39)		probably null	Het
Syne2	AGAGTGAG	AGAGTGAGTGAG	12: 76,144,734 (GRCm39)		probably null	Het
Tlr12	A	G	4: 128,510,084 (GRCm39)	I722T	probably benign	Het
Tmem101	A	T	11: 102,046,692 (GRCm39)	M59K	possibly damaging	Het
Trim34a	C	T	7: 103,910,331 (GRCm39)	R378C	probably benign	Het
Trim35	T	A	14: 66,546,574 (GRCm39)	M447K	probably benign	Het
Trps1	C	A	15: 50,524,945 (GRCm39)	S704I	possibly damaging	Het
Vmn1r231	T	A	17: 21,110,433 (GRCm39)	S161C	probably damaging	Het
Vps13a	A	C	19: 16,676,261 (GRCm39)	N1237K	probably damaging	Het
Zfp619	G	T	7: 39,185,983 (GRCm39)	C671F	probably damaging	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
R0158:Exoc7	UTSW	11	116,186,118 (GRCm39)	missense	probably benign	0.01
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
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'- AGCATCTTGACTTGTCCAAAGCCC -3'
(R):5'- CACTGCCCCATGTAGCTGTTACTG -3'

Sequencing Primer
(F):5'- TCCCAGAAGGGAGtaaagggac -3'
(R):5'- AGCCTGTTGTCGCCCTAAG -3'

Posted On

2013-10-16