Mutagenetix > Incidental Mutation

Incidental Mutation 'R7745:Exoc8'

596801

Institutional Source

Beutler Lab

Gene Symbol

Exoc8

Ensembl Gene

ENSMUSG00000074030

Gene Name

exocyst complex component 8

Synonyms

SEC84, EXO84, Exo84p

MMRRC Submission

045801-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7745 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

125619847-125624444 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 125622558 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 603 (N603S)

Ref Sequence

ENSEMBL: ENSMUSP00000095915 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034467] [ENSMUST00000098312]

AlphaFold

Q6PGF7

Predicted Effect

probably benign
Transcript: ENSMUST00000034467

SMART Domains

Protein: ENSMUSP00000034467
Gene: ENSMUSG00000031986

Domain	Start	End	E-Value	Type
SprT	44	213	4.39e-72	SMART
low complexity region	383	405	N/A	INTRINSIC
low complexity region	442	462	N/A	INTRINSIC
Blast:ZnF_Rad18	463	485	8e-8	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000098312
AA Change: N603S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000095915
Gene: ENSMUSG00000074030
AA Change: N603S

Domain	Start	End	E-Value	Type
Pfam:Vps51	13	99	7.1e-21	PFAM
PH	174	275	2.07e-6	SMART
low complexity region	279	294	N/A	INTRINSIC
low complexity region	304	319	N/A	INTRINSIC
Pfam:Exo84_C	326	531	6.8e-59	PFAM
low complexity region	633	646	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

96% (55/57)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a component of the exocyst complex, an evolutionarily conserved multi-protein complex that plays a critical role in vesicular trafficking and the secretory pathway by targeting post-Golgi vesicles to the plasma membrane. This protein is a target of activated Ral subfamily of GTPases and thereby regulates exocytosis by tethering vesicles to the plasma membrane. Mutations in this gene may be related to Joubert syndrome. [provided by RefSeq, Sep 2016]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadac	A	C	3: 59,945,893 (GRCm39)	S188R	probably damaging	Het
Aars1	T	A	8: 111,768,289 (GRCm39)	I220N	probably damaging	Het
Abca15	A	G	7: 119,931,440 (GRCm39)	N16S	probably damaging	Het
Adck1	A	T	12: 88,423,570 (GRCm39)	M358L	probably benign	Het
Adck5	A	T	15: 76,478,748 (GRCm39)	Q345L	probably benign	Het
Adgrl2	A	G	3: 148,542,094 (GRCm39)	F876S	probably damaging	Het
Aebp2	T	A	6: 140,569,584 (GRCm39)	L55Q	unknown	Het
Ampd2	C	A	3: 107,987,432 (GRCm39)	V134L	probably benign	Het
Aox3	T	C	1: 58,215,676 (GRCm39)	V1036A	possibly damaging	Het
Aox4	A	G	1: 58,279,866 (GRCm39)	D494G	probably benign	Het
Cacna1a	C	A	8: 85,286,023 (GRCm39)	H889Q	probably benign	Het
Cacna1c	T	C	6: 119,029,587 (GRCm39)	D151G		Het
Car8	A	G	4: 8,237,939 (GRCm39)	V92A	possibly damaging	Het
Ccdc8	G	T	7: 16,729,614 (GRCm39)	A368S	unknown	Het
Ccng2	C	G	5: 93,421,202 (GRCm39)	S237R	probably benign	Het
Cfap57	C	T	4: 118,472,128 (GRCm39)	V84I	probably benign	Het
Cntnap5a	A	G	1: 116,370,013 (GRCm39)	I877V	probably benign	Het
Copa	A	T	1: 171,939,509 (GRCm39)	D582V	probably damaging	Het
Cpne2	T	G	8: 95,295,312 (GRCm39)	S466A	probably damaging	Het
Crybg2	A	G	4: 133,816,156 (GRCm39)	K1311R	possibly damaging	Het
Csmd1	A	G	8: 15,982,461 (GRCm39)		probably null	Het
Dnah2	A	T	11: 69,342,144 (GRCm39)	C2947*	probably null	Het
Exoc1	A	T	5: 76,709,359 (GRCm39)	K656*	probably null	Het
Fam171a1	T	A	2: 3,226,483 (GRCm39)	C539S	possibly damaging	Het
Fastkd5	A	T	2: 130,456,988 (GRCm39)	I534K	probably damaging	Het
Fbn1	T	C	2: 125,145,115 (GRCm39)	D2708G	probably benign	Het
Fhad1	A	G	4: 141,618,250 (GRCm39)	L1392P	probably benign	Het
Fras1	A	T	5: 96,874,754 (GRCm39)	T2306S	probably benign	Het
Gdf7	G	T	12: 8,351,854 (GRCm39)	A27E	unknown	Het
Hnrnph1	A	T	11: 50,270,324 (GRCm39)	I43F	probably damaging	Het
Igkv8-27	T	A	6: 70,148,999 (GRCm39)	S52C	probably benign	Het
Jmjd1c	T	C	10: 67,052,824 (GRCm39)	F24L	probably damaging	Het
Knl1	T	G	2: 118,902,037 (GRCm39)	L1246R	probably benign	Het
Limk2	C	T	11: 3,305,896 (GRCm39)	S191N	probably damaging	Het
Mdga2	C	A	12: 66,736,125 (GRCm39)	A368S	possibly damaging	Het
Mdga2	G	A	12: 66,736,124 (GRCm39)	A368V	probably damaging	Het
Med24	A	T	11: 98,595,793 (GRCm39)	L966Q	probably damaging	Het
Mgll	T	C	6: 88,702,770 (GRCm39)	V23A	possibly damaging	Het
Nedd1	C	T	10: 92,550,034 (GRCm39)	D84N	probably benign	Het
Obscn	A	C	11: 58,951,681 (GRCm39)	L4024R	probably damaging	Het
Or5k1b	A	T	16: 58,580,782 (GRCm39)	Y252*	probably null	Het
Pcnx2	T	C	8: 126,577,846 (GRCm39)	I944V	probably benign	Het
Pecr	T	C	1: 72,306,157 (GRCm39)		probably null	Het
Phf3	A	T	1: 30,843,305 (GRCm39)	W1885R	probably damaging	Het
Pitpnm2	C	G	5: 124,266,768 (GRCm39)	A697P	probably benign	Het
Piwil2	T	A	14: 70,631,638 (GRCm39)	H602L	probably benign	Het
Pprc1	T	C	19: 46,053,781 (GRCm39)	S1104P	unknown	Het
Prkar1a	T	A	11: 109,544,673 (GRCm39)	Y21*	probably null	Het
Prl2c3	A	T	13: 12,813,186 (GRCm39)	Y9*	probably null	Het
Rhbdl3	T	A	11: 80,214,405 (GRCm39)	L172Q	possibly damaging	Het
Rsph3a	T	G	17: 8,198,075 (GRCm39)	L484W	probably damaging	Het
Sbno1	A	T	5: 124,530,962 (GRCm39)	S809T	probably benign	Het
Stmnd1	T	A	13: 46,453,077 (GRCm39)	V251E	possibly damaging	Het
Stt3a	A	T	9: 36,662,535 (GRCm39)	C241*	probably null	Het
Tas2r114	A	T	6: 131,666,401 (GRCm39)	M209K	probably damaging	Het
Tchh	G	T	3: 93,352,084 (GRCm39)	R508L	unknown	Het
Tgfbr3l	T	C	8: 4,300,622 (GRCm39)	S267P	possibly damaging	Het
Ttn	T	A	2: 76,598,144 (GRCm39)	I19590F	probably damaging	Het
Vmn1r171	A	G	7: 23,332,035 (GRCm39)	T87A	probably benign	Het

Other mutations in Exoc8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00549:Exoc8	APN	8	125,623,611 (GRCm39)	missense	probably damaging	1.00
IGL01444:Exoc8	APN	8	125,622,580 (GRCm39)	missense	possibly damaging	0.84
IGL01655:Exoc8	APN	8	125,622,967 (GRCm39)	missense	probably benign	0.03
IGL01881:Exoc8	APN	8	125,623,090 (GRCm39)	missense	probably damaging	1.00
IGL02952:Exoc8	APN	8	125,624,275 (GRCm39)	missense	probably benign	0.02
R0683:Exoc8	UTSW	8	125,622,372 (GRCm39)	missense	probably damaging	0.99
R2051:Exoc8	UTSW	8	125,622,219 (GRCm39)	missense	probably benign	0.15
R2140:Exoc8	UTSW	8	125,624,154 (GRCm39)	missense	possibly damaging	0.84
R2197:Exoc8	UTSW	8	125,622,477 (GRCm39)	missense	probably damaging	1.00
R2209:Exoc8	UTSW	8	125,622,918 (GRCm39)	nonsense	probably null
R4659:Exoc8	UTSW	8	125,624,271 (GRCm39)	missense	probably damaging	1.00
R4707:Exoc8	UTSW	8	125,624,209 (GRCm39)	missense	possibly damaging	0.93
R4724:Exoc8	UTSW	8	125,623,989 (GRCm39)	missense	probably benign
R4764:Exoc8	UTSW	8	125,624,314 (GRCm39)	missense	possibly damaging	0.94
R5159:Exoc8	UTSW	8	125,622,952 (GRCm39)	missense	probably benign	0.00
R5976:Exoc8	UTSW	8	125,623,392 (GRCm39)	missense	probably benign	0.02
R6566:Exoc8	UTSW	8	125,622,783 (GRCm39)	missense	probably damaging	1.00
R6602:Exoc8	UTSW	8	125,623,150 (GRCm39)	missense	probably damaging	1.00
R7246:Exoc8	UTSW	8	125,623,156 (GRCm39)	nonsense	probably null
R7341:Exoc8	UTSW	8	125,623,320 (GRCm39)	missense	probably damaging	1.00
R7440:Exoc8	UTSW	8	125,622,520 (GRCm39)	missense	probably benign
R7982:Exoc8	UTSW	8	125,623,149 (GRCm39)	missense	probably damaging	1.00
R8499:Exoc8	UTSW	8	125,623,849 (GRCm39)	missense	probably benign	0.01
R8504:Exoc8	UTSW	8	125,622,709 (GRCm39)	missense	probably benign	0.17
R8984:Exoc8	UTSW	8	125,622,769 (GRCm39)	missense	probably benign	0.07
Z1176:Exoc8	UTSW	8	125,623,405 (GRCm39)	missense	possibly damaging	0.52
Z1177:Exoc8	UTSW	8	125,623,925 (GRCm39)	missense	possibly damaging	0.49

Predicted Primers

PCR Primer
(F):5'- AGGATGCGTTCTGCCTGATG -3'
(R):5'- TGCTGGTGAAGGACATCCAG -3'

Sequencing Primer
(F):5'- AAGGCCTTCTTCTCGGGGTC -3'
(R):5'- TGAAGGACATCCAGGGCGC -3'

Posted On

2019-11-26