Mutagenetix > Incidental Mutation

Incidental Mutation 'R0394:Exoc7'

31881

Institutional Source

Beutler Lab

Gene Symbol

Exoc7

Ensembl Gene

ENSMUSG00000020792

Gene Name

exocyst complex component 7

Synonyms

70kDa, Exo70, sec70

MMRRC Submission

038600-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.931) question?

Stock #

R0394 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

116178823-116197574 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 116191224 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 219 (Q219K)

Ref Sequence

ENSEMBL: ENSMUSP00000121794 (fasta)

Gene Model

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

AlphaFold

O35250

Predicted Effect

possibly damaging
Transcript: ENSMUST00000021147
AA Change: Q226K

PolyPhen 2 Score 0.675 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000021147
Gene: ENSMUSG00000020792
AA Change: Q226K

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

possibly damaging
Transcript: ENSMUST00000106411
AA Change: Q226K

PolyPhen 2 Score 0.675 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000102019
Gene: ENSMUSG00000020792
AA Change: Q226K

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

possibly damaging
Transcript: ENSMUST00000106413
AA Change: Q226K

PolyPhen 2 Score 0.675 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000102021
Gene: ENSMUSG00000020792
AA Change: Q226K

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: Q219K

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000121794
Gene: ENSMUSG00000020792
AA Change: Q219K

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 benign
Transcript: ENSMUST00000133468

SMART Domains

Protein: ENSMUSP00000121150
Gene: ENSMUSG00000020792

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136417

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139699

Meta Mutation Damage Score

0.1226

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.0%
20x: 92.0%

Validation Efficiency

99% (79/80)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	C	A	3: 137,773,065 (GRCm39)	S751R	probably damaging	Het
Abca8a	A	G	11: 109,917,169 (GRCm39)	V1610A	probably damaging	Het
Actl10	A	T	2: 154,394,957 (GRCm39)	H202L	probably benign	Het
Alox12	A	T	11: 70,136,761 (GRCm39)	V489E	probably damaging	Het
Ap4m1	T	A	5: 138,170,465 (GRCm39)	F5I	probably benign	Het
Atn1	T	C	6: 124,726,696 (GRCm39)		probably benign	Het
Atrnl1	T	A	19: 57,661,608 (GRCm39)	N529K	probably benign	Het
B3gntl1	C	T	11: 121,510,541 (GRCm39)	G336D	probably damaging	Het
Bmp1	G	A	14: 70,727,474 (GRCm39)	A703V	probably damaging	Het
Brat1	T	G	5: 140,704,141 (GRCm39)	L798R	probably damaging	Het
Cacna1c	C	T	6: 118,602,458 (GRCm39)	G1302R	probably damaging	Het
Cdr2	A	T	7: 120,557,954 (GRCm39)	D190E	probably benign	Het
Cenpe	T	C	3: 134,922,186 (GRCm39)		probably benign	Het
Clstn1	A	G	4: 149,728,635 (GRCm39)	D687G	probably benign	Het
Coro1a	A	G	7: 126,299,812 (GRCm39)	F337L	probably benign	Het
Ddx49	T	A	8: 70,749,575 (GRCm39)	I252F	probably damaging	Het
Dennd2a	T	A	6: 39,499,746 (GRCm39)	D273V	possibly damaging	Het
Derl2	A	T	11: 70,905,387 (GRCm39)	F32I	probably benign	Het
Dmrta1	A	G	4: 89,580,276 (GRCm39)	Y412C	probably damaging	Het
Dsg1a	A	G	18: 20,466,807 (GRCm39)	N559S	probably damaging	Het
Dusp26	G	T	8: 31,581,987 (GRCm39)	R27L	probably benign	Het
Eif2ak3	T	C	6: 70,862,202 (GRCm39)	I492T	probably benign	Het
F2r	T	C	13: 95,740,984 (GRCm39)	T184A	probably damaging	Het
Fbf1	G	A	11: 116,043,288 (GRCm39)		probably benign	Het
Fbxo28	A	G	1: 182,144,580 (GRCm39)	M328T	probably benign	Het
Fsip2	T	A	2: 82,821,419 (GRCm39)	D5717E	possibly damaging	Het
Gnpat	C	A	8: 125,606,964 (GRCm39)	S373R	possibly damaging	Het
Golgb1	G	T	16: 36,695,941 (GRCm39)		probably benign	Het
Greb1l	T	C	18: 10,523,374 (GRCm39)	V844A	probably damaging	Het
Hps1	G	T	19: 42,759,338 (GRCm39)		probably null	Het
Inppl1	G	T	7: 101,477,402 (GRCm39)		probably benign	Het
Isca1	C	T	13: 59,906,699 (GRCm39)		probably null	Het
Itgb2	T	A	10: 77,378,309 (GRCm39)	C46S	probably damaging	Het
Kifc5b	C	T	17: 27,142,056 (GRCm39)	T178M	probably benign	Het
Krt80	T	C	15: 101,250,180 (GRCm39)	T22A	probably damaging	Het
L3mbtl2	C	T	15: 81,552,942 (GRCm39)	A125V	probably damaging	Het
Ltbp2	C	T	12: 84,853,198 (GRCm39)		probably benign	Het
Mettl18	A	G	1: 163,823,910 (GRCm39)	D77G	probably benign	Het
Mfsd2a	A	G	4: 122,843,961 (GRCm39)	L336P	probably benign	Het
Mgat4b	A	G	11: 50,121,746 (GRCm39)		probably null	Het
Mtmr14	C	T	6: 113,257,649 (GRCm39)	R233*	probably null	Het
Nbea	T	C	3: 55,937,328 (GRCm39)	Y761C	probably damaging	Het
Neb	A	T	2: 52,067,571 (GRCm39)		probably null	Het
Nup85	T	G	11: 115,455,357 (GRCm39)	M1R	probably null	Het
Obi1	T	C	14: 104,716,289 (GRCm39)	R695G	possibly damaging	Het
Or6c70	T	A	10: 129,709,811 (GRCm39)	I272L	probably benign	Het
Oxr1	T	A	15: 41,680,593 (GRCm39)	M177K	probably damaging	Het
Pgm2l1	A	G	7: 99,901,405 (GRCm39)	Y98C	probably damaging	Het
Pi4kb	G	T	3: 94,904,115 (GRCm39)		probably benign	Het
Pi4kb	G	A	3: 94,904,116 (GRCm39)		probably benign	Het
Pirb	T	A	7: 3,722,247 (GRCm39)	S199C	probably benign	Het
Prss23	A	C	7: 89,159,055 (GRCm39)	I338S	probably damaging	Het
Rapgef3	A	T	15: 97,655,700 (GRCm39)		probably benign	Het
Rdh7	T	A	10: 127,720,539 (GRCm39)	T278S	probably benign	Het
Rrp1b	A	G	17: 32,277,538 (GRCm39)	D606G	probably benign	Het
Rxfp1	T	A	3: 79,559,684 (GRCm39)	Y379F	possibly damaging	Het
Rxfp2	T	C	5: 149,990,853 (GRCm39)	V514A	probably benign	Het
Scel	A	T	14: 103,799,954 (GRCm39)	E202V	probably benign	Het
Slc25a36	G	A	9: 96,962,257 (GRCm39)	A244V	probably benign	Het
Slc2a13	T	G	15: 91,400,595 (GRCm39)	Q209P	probably damaging	Het
Slc38a6	A	G	12: 73,399,304 (GRCm39)	N456S	probably benign	Het
Slc6a12	G	T	6: 121,323,957 (GRCm39)		probably null	Het
Spag6l	T	C	16: 16,598,493 (GRCm39)	I333V	probably benign	Het
Spen	G	A	4: 141,201,514 (GRCm39)	A2371V	probably benign	Het
St6galnac1	T	C	11: 116,657,466 (GRCm39)	D366G	probably damaging	Het
Stk33	T	C	7: 108,940,696 (GRCm39)	S5G	probably benign	Het
Tex56	T	C	13: 35,116,636 (GRCm39)		probably benign	Het
Tle2	T	C	10: 81,413,482 (GRCm39)	L84P	probably damaging	Het
Tmem14a	T	C	1: 21,296,876 (GRCm39)	M78T	probably damaging	Het
Top2b	T	A	14: 16,413,556 (GRCm38)		probably null	Het
Trmt13	A	G	3: 116,376,299 (GRCm39)	F364S	probably damaging	Het
Unkl	T	A	17: 25,449,751 (GRCm39)		probably null	Het
Uvrag	A	G	7: 98,653,926 (GRCm39)		probably benign	Het
Vmn2r8	T	A	5: 108,949,938 (GRCm39)	N303I	probably benign	Het
Vsig10l	A	G	7: 43,114,879 (GRCm39)	N360S	probably damaging	Het
Zdhhc25	T	C	15: 88,485,123 (GRCm39)	Y153H	probably damaging	Het
Zfp646	T	C	7: 127,482,434 (GRCm39)	V1537A	possibly damaging	Het
Zfp664	T	A	5: 124,963,129 (GRCm39)	Y174*	probably null	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
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'- AGGCATGAACTCCAGAAGGCTCAC -3'
(R):5'- ATGGCTCACCACCGCTTTTGAC -3'

Sequencing Primer
(F):5'- AAGGCTCACCCCAGAGTG -3'
(R):5'- cccaaagaggccagatgag -3'

Posted On

2013-04-24