Mutagenetix > Incidental Mutation

Incidental Mutation 'R9459:Exoc6'

714786

Institutional Source

Beutler Lab

Gene Symbol

Exoc6

Ensembl Gene

ENSMUSG00000053799

Gene Name

exocyst complex component 6

Synonyms

msec15, Sec15l1, 4833405E05Rik, Sec15, hbd

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9459 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

37550418-37683245 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 37585893 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 324 (V324A)

Ref Sequence

ENSEMBL: ENSMUSP00000064332 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000066439]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000066439
AA Change: V324A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000064332
Gene: ENSMUSG00000053799
AA Change: V324A

Domain	Start	End	E-Value	Type
low complexity region	265	273	N/A	INTRINSIC
Pfam:Sec15	456	762	8.1e-109	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

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 highly similar to the Saccharomyces cerevisiae SEC15 gene product, which is essential for vesicular traffic from the Golgi apparatus to the cell surface in yeast. It is one of the components of a multiprotein complex required for exocytosis. The 5' portion of this gene and two neighboring cytochrome p450 genes are included in a deletion that results in an autosomal-dominant form of nonsyndromic optic nerve aplasia (ONA). Alternative splicing and the use of alternative promoters results in multiple transcript variants. A paralogous gene encoding a similar protein is present on chromosome 2. [provided by RefSeq, Jan 2016]
PHENOTYPE: Homozygotes for a spontaneous mutation exhibit severe microcytic anemia, erythrocyte hyperchromia, and markedly increased levels of red cell protoporphyrin. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700020D05Rik	T	A	19: 5,503,729	H8L	probably benign	Het
Abcb1a	T	A	5: 8,685,414		probably null	Het
Alms1	T	A	6: 85,627,964	C2199S	probably damaging	Het
Aox3	A	G	1: 58,150,309	I390V	probably benign	Het
Ap3b2	T	C	7: 81,473,903	N400S	probably benign	Het
Baalc	A	T	15: 38,934,024	N70I	probably benign	Het
Brca2	T	A	5: 150,540,629	V1286D	probably damaging	Het
Ccdc30	T	C	4: 119,377,273	R81G	possibly damaging	Het
Cd209g	T	C	8: 4,135,610	S15P	probably benign	Het
Chrnb3	G	A	8: 27,393,856	W207*	probably null	Het
Cmpk2	C	T	12: 26,478,023	T413M	probably damaging	Het
Coq4	T	A	2: 29,788,550	Y63N	probably damaging	Het
Depdc5	T	A	5: 32,990,773	S1478T	probably damaging	Het
Etf1	A	G	18: 34,906,081	F378L	probably benign	Het
Frem2	A	G	3: 53,653,486	L1200P	probably benign	Het
Gadl1	T	C	9: 115,965,611	W285R	probably damaging	Het
Gbp3	A	G	3: 142,564,946		probably null	Het
Gm14295	C	T	2: 176,807,372	T5I	possibly damaging	Het
Hps4	T	C	5: 112,375,009	S578P	probably benign	Het
Kctd13	T	A	7: 126,945,082	D317E	probably damaging	Het
Kdm4b	T	A	17: 56,399,509	D881E	probably benign	Het
Klf10	G	A	15: 38,295,927	P473L	probably damaging	Het
Lrch3	A	T	16: 32,979,405	D371V	probably damaging	Het
Msh2	T	C	17: 87,678,330	S112P	possibly damaging	Het
Msh3	A	G	13: 92,215,539	V1036A	possibly damaging	Het
Mybl1	A	G	1: 9,676,259	V392A	possibly damaging	Het
Myo7a	T	C	7: 98,073,173	I1182V	possibly damaging	Het
Nectin1	A	C	9: 43,803,793	E442A	probably benign	Het
Obsl1	G	T	1: 75,498,240	H839N	probably benign	Het
Olfr1202	T	C	2: 88,817,623	F151L	probably benign	Het
Olfr1505	T	C	19: 13,919,310	C97R	possibly damaging	Het
Pacs1	C	T	19: 5,145,070		probably null	Het
Pcdh17	G	T	14: 84,448,623	E843D	probably benign	Het
Pcnt	A	G	10: 76,392,738	L1531P	probably damaging	Het
Pdgfra	A	G	5: 75,192,468	D973G	probably damaging	Het
Pkd2	A	G	5: 104,466,934	Y214C	probably damaging	Het
Plcb1	T	C	2: 135,322,638	Y427H	probably benign	Het
Ppm1h	A	G	10: 122,907,577	N402S	possibly damaging	Het
Rassf4	T	A	6: 116,641,788		probably null	Het
Ryr1	G	A	7: 29,068,643	T2856I	probably damaging	Het
Serpinb8	A	T	1: 107,605,790	K192*	probably null	Het
Slfn14	T	G	11: 83,279,372	Q482P	possibly damaging	Het
Spata2	A	G	2: 167,485,285	V64A	probably benign	Het
Tax1bp1	T	G	6: 52,729,329	V105G	probably damaging	Het
Tbc1d22a	T	G	15: 86,235,820	S142A	possibly damaging	Het
Tdrd9	T	C	12: 112,025,573	F594S	probably damaging	Het
Uba3	T	C	6: 97,189,598	I281V	probably benign	Het
Uggt2	T	C	14: 119,049,183	E723G	probably benign	Het
Usp20	C	T	2: 31,011,012	S391F	probably damaging	Het
Usp24	T	A	4: 106,342,358	D166E	probably damaging	Het
Vmn1r1	A	G	1: 182,157,938	V54A	probably benign	Het
Zfp442	T	A	2: 150,408,748	E411D	unknown	Het
Zfp804a	T	C	2: 82,259,409	I1194T	probably damaging	Het

Other mutations in Exoc6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01432:Exoc6	APN	19	37589876	missense	possibly damaging	0.68
IGL01716:Exoc6	APN	19	37682964	missense	probably damaging	0.98
IGL02363:Exoc6	APN	19	37608954	missense	probably damaging	1.00
IGL02383:Exoc6	APN	19	37578474	missense	probably benign
IGL03394:Exoc6	APN	19	37599572	missense	probably benign	0.15
australamerican	UTSW	19	37598679	critical splice donor site	probably null
IGL03046:Exoc6	UTSW	19	37593769	critical splice donor site	probably null
R1156:Exoc6	UTSW	19	37682897	missense	probably benign	0.05
R1489:Exoc6	UTSW	19	37597120	missense	possibly damaging	0.71
R1747:Exoc6	UTSW	19	37639769	splice site	probably null
R2125:Exoc6	UTSW	19	37590941	missense	probably damaging	1.00
R2863:Exoc6	UTSW	19	37653413	missense	probably benign	0.34
R4090:Exoc6	UTSW	19	37571912	missense	probably benign
R4666:Exoc6	UTSW	19	37570505	missense	probably damaging	0.97
R4674:Exoc6	UTSW	19	37609082	missense	probably damaging	1.00
R5382:Exoc6	UTSW	19	37598679	critical splice donor site	probably null
R5471:Exoc6	UTSW	19	37599617	missense	probably benign	0.30
R5533:Exoc6	UTSW	19	37593770	splice site	probably null
R5607:Exoc6	UTSW	19	37578529	missense	probably benign	0.01
R5641:Exoc6	UTSW	19	37587633	splice site	probably null
R5759:Exoc6	UTSW	19	37573741	nonsense	probably null
R5889:Exoc6	UTSW	19	37582245	missense	probably damaging	1.00
R6592:Exoc6	UTSW	19	37571912	missense	probably benign
R6936:Exoc6	UTSW	19	37571863	missense	probably benign	0.00
R6988:Exoc6	UTSW	19	37609091	missense	probably damaging	1.00
R7088:Exoc6	UTSW	19	37577010	missense	probably damaging	0.99
R7162:Exoc6	UTSW	19	37577118	missense	probably damaging	0.97
R7948:Exoc6	UTSW	19	37576974	missense	probably benign	0.00
R8266:Exoc6	UTSW	19	37577049	missense	probably benign	0.00
R8525:Exoc6	UTSW	19	37608992	missense	possibly damaging	0.53
R8917:Exoc6	UTSW	19	37589912	missense	probably benign	0.35
R9003:Exoc6	UTSW	19	37598649	missense	probably damaging	1.00
R9159:Exoc6	UTSW	19	37609030	missense	probably benign	0.00
R9435:Exoc6	UTSW	19	37597097	missense	probably benign	0.00
R9527:Exoc6	UTSW	19	37570539	missense	probably benign	0.26
R9563:Exoc6	UTSW	19	37599623	missense	probably damaging	1.00
R9730:Exoc6	UTSW	19	37599584	missense	probably benign	0.02
RF009:Exoc6	UTSW	19	37571620	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- ACAAAGATGTCTGTCTCAGCAG -3'
(R):5'- TGCACAGTTCACCATATAGTCAGAAAC -3'

Sequencing Primer
(F):5'- TCTGTCTCAGCAGGGGCAG -3'
(R):5'- CAGTGTCTGTCTTTCCTAACAGAATG -3'

Posted On

2022-06-15