Mutagenetix > Incidental Mutation

Incidental Mutation 'R2122:Exoc6b'

229572

Institutional Source

Beutler Lab

Gene Symbol

Exoc6b

Ensembl Gene

ENSMUSG00000033769

Gene Name

exocyst complex component 6B

Synonyms

Sec15b, Sec15l2, 4930569O18Rik, G430127E12Rik

MMRRC Submission

040126-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.848) question?

Stock #

R2122 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

84595469-85046495 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 84598464 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 779 (M779T)

Ref Sequence

ENSEMBL: ENSMUSP00000125312 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000160197]

AlphaFold

A6H5Z3

Predicted Effect

probably benign
Transcript: ENSMUST00000160197
AA Change: M779T

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000125312
Gene: ENSMUSG00000033769
AA Change: M779T

Domain	Start	End	E-Value	Type
coiled coil region	79	118	N/A	INTRINSIC
low complexity region	272	282	N/A	INTRINSIC
Pfam:Sec15	464	770	4.5e-105	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein which is a part of the evolutionarily conserved exocyst, a multimeric protein complex necessary for exocytosis, which in turn, is crucial for cell growth, polarity and migration. Disruption of this gene may be associated with phenotypes exhibiting multiple symptoms including intellectual disability and developmental delay (DD). [provided by RefSeq, Jun 2016]

Allele List at MGI

Other mutations in this stock

Total: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	G	T	7: 120,119,184 (GRCm39)	G975V	probably damaging	Het
Abcg5	T	A	17: 84,978,575 (GRCm39)	E294D	probably benign	Het
Actl10	G	A	2: 154,394,153 (GRCm39)	R35H	probably damaging	Het
Adamts12	C	T	15: 11,310,665 (GRCm39)	T974I	probably damaging	Het
Ahctf1	C	A	1: 179,597,017 (GRCm39)	R43L	probably damaging	Het
Arhgef10	A	G	8: 14,984,820 (GRCm39)	D200G	probably damaging	Het
Arhgef38	T	C	3: 132,866,514 (GRCm39)	K208E	probably benign	Het
Arhgef7	A	T	8: 11,778,256 (GRCm39)	N2I	possibly damaging	Het
Blvra	T	G	2: 126,928,817 (GRCm39)	S102A	probably damaging	Het
Btn1a1	A	G	13: 23,645,691 (GRCm39)	L226P	probably damaging	Het
C2cd4d	G	T	3: 94,270,925 (GRCm39)	E64*	probably null	Het
Ccna2	A	G	3: 36,622,875 (GRCm39)	V209A	probably damaging	Het
Cd55	T	A	1: 130,387,354 (GRCm39)	D148V	possibly damaging	Het
Cdh2	G	A	18: 16,907,600 (GRCm39)	P46L	probably benign	Het
Cldn11	A	G	3: 31,217,300 (GRCm39)	Y156C	probably damaging	Het
Cmtm2a	T	C	8: 105,019,655 (GRCm39)	R12G	possibly damaging	Het
Cog2	T	C	8: 125,255,724 (GRCm39)	S104P	possibly damaging	Het
Col4a3	T	G	1: 82,632,678 (GRCm39)	F184V	unknown	Het
Col4a4	T	A	1: 82,434,592 (GRCm39)	D1406V	unknown	Het
Col6a1	T	C	10: 76,557,332 (GRCm39)	T207A	probably benign	Het
Cyp2a12	A	G	7: 26,736,071 (GRCm39)	*493W	probably null	Het
Dcdc2a	T	G	13: 25,303,268 (GRCm39)	S266R	possibly damaging	Het
Dmd	G	C	X: 83,356,089 (GRCm39)	A2257P	probably benign	Het
Ecel1	A	G	1: 87,075,997 (GRCm39)	S727P	probably damaging	Het
Eif2ak4	T	A	2: 118,286,274 (GRCm39)	V1063E	probably damaging	Het
Enpp2	A	T	15: 54,761,188 (GRCm39)	Y44*	probably null	Het
Ep400	A	T	5: 110,856,716 (GRCm39)		probably benign	Het
F13a1	T	A	13: 37,209,653 (GRCm39)	Y104F	probably benign	Het
Fam78b	G	A	1: 166,906,278 (GRCm39)	V146M	probably damaging	Het
Fgf18	A	C	11: 33,068,003 (GRCm39)	F129C	probably damaging	Het
Fscn3	A	G	6: 28,430,388 (GRCm39)	D186G	probably benign	Het
Gm5773	G	A	3: 93,680,624 (GRCm39)	G99R	possibly damaging	Het
Grk1	A	T	8: 13,455,221 (GRCm39)	Y35F	probably benign	Het
Heatr1	T	C	13: 12,418,145 (GRCm39)	V359A	probably benign	Het
Hfm1	A	G	5: 107,044,121 (GRCm39)	S567P	probably damaging	Het
Il1rap	A	T	16: 26,529,315 (GRCm39)	H379L	probably damaging	Het
Kctd5	T	C	17: 24,274,940 (GRCm39)	T212A	probably benign	Het
Krtap5-5	A	T	7: 141,783,240 (GRCm39)	C137S	unknown	Het
Lrp2	T	C	2: 69,314,051 (GRCm39)	T2227A	probably damaging	Het
Ltbp1	T	A	17: 75,617,154 (GRCm39)	V1031E	possibly damaging	Het
Ltbr	A	G	6: 125,286,440 (GRCm39)	S249P	probably benign	Het
Map1a	T	A	2: 121,129,927 (GRCm39)	Y248N	probably damaging	Het
Mdc1	C	T	17: 36,158,835 (GRCm39)	A405V	probably benign	Het
Mfsd4b1	T	C	10: 39,878,647 (GRCm39)	K417E	possibly damaging	Het
Mroh2a	T	C	1: 88,184,476 (GRCm39)	V1453A	probably benign	Het
Myh11	T	C	16: 14,035,868 (GRCm39)	E1027G	probably damaging	Het
Nudt6	A	C	3: 37,466,554 (GRCm39)	F80L	probably benign	Het
Nxph1	A	G	6: 9,247,791 (GRCm39)	K254R	probably damaging	Het
Obsl1	C	T	1: 75,470,527 (GRCm39)	R1043H	probably benign	Het
Or10a4	A	T	7: 106,697,316 (GRCm39)	I215F	probably damaging	Het
Pde6d	A	G	1: 86,473,524 (GRCm39)	F91L	probably benign	Het
Phldb2	T	A	16: 45,583,304 (GRCm39)	I1065F	probably damaging	Het
Ppp1r3a	A	T	6: 14,721,874 (GRCm39)	N317K	possibly damaging	Het
Psmd1	T	A	1: 86,006,422 (GRCm39)	S263T	possibly damaging	Het
Pum1	C	A	4: 130,396,581 (GRCm39)	T112K	possibly damaging	Het
Rasgrp2	T	A	19: 6,454,425 (GRCm39)	M156K	probably benign	Het
Reg3a	T	C	6: 78,358,119 (GRCm39)	C17R	possibly damaging	Het
Ripor2	A	G	13: 24,897,701 (GRCm39)	S800G	probably damaging	Het
Rnf168	T	G	16: 32,097,036 (GRCm39)	L37R	probably damaging	Het
Rnf31	A	G	14: 55,833,654 (GRCm39)	D554G	probably damaging	Het
Rpe	T	C	1: 66,754,387 (GRCm39)	M153T	probably damaging	Het
Sacs	A	T	14: 61,449,765 (GRCm39)	Q3937L	probably damaging	Het
Sap18	T	A	14: 58,036,011 (GRCm39)	S66T	probably damaging	Het
Slc20a1	T	G	2: 129,041,739 (GRCm39)	I34S	possibly damaging	Het
Slc25a30	A	G	14: 76,007,658 (GRCm39)	S116P	possibly damaging	Het
Speer4c1	T	A	5: 15,919,115 (GRCm39)	D29V	possibly damaging	Het
Stk40	C	T	4: 126,022,640 (GRCm39)	T138I	probably benign	Het
Susd3	A	G	13: 49,384,626 (GRCm39)	Y254H	probably damaging	Het
Tanc2	T	C	11: 105,786,775 (GRCm39)	L858P	probably damaging	Het
Tas2r106	A	T	6: 131,655,317 (GRCm39)	L178H	probably damaging	Het
Tfpt	C	T	7: 3,631,930 (GRCm39)	R60Q	probably damaging	Het
Tmem44	T	A	16: 30,366,262 (GRCm39)	K55*	probably null	Het
Tnfsf9	A	T	17: 57,414,316 (GRCm39)		probably null	Het
Ube3c	T	C	5: 29,824,604 (GRCm39)	I543T	probably benign	Het
Ugt1a2	C	A	1: 88,128,735 (GRCm39)	S126Y	possibly damaging	Het
Vmn1r180	T	A	7: 23,652,566 (GRCm39)	L243Q	probably damaging	Het
Vmn2r15	A	C	5: 109,434,322 (GRCm39)	V794G	probably damaging	Het
Vmn2r24	A	G	6: 123,792,353 (GRCm39)	D560G	possibly damaging	Het
Wdr11	G	A	7: 129,233,490 (GRCm39)	C1028Y	probably damaging	Het
Zfp318	A	G	17: 46,724,297 (GRCm39)	D2100G	probably benign	Het
Zfyve16	A	T	13: 92,655,991 (GRCm39)	Y789*	probably null	Het

Other mutations in Exoc6b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00519:Exoc6b	APN	6	84,966,435 (GRCm39)	missense	probably benign	0.08
IGL01148:Exoc6b	APN	6	84,885,208 (GRCm39)	missense	probably benign	0.18
IGL01804:Exoc6b	APN	6	84,885,148 (GRCm39)	missense	probably damaging	0.98
IGL01817:Exoc6b	APN	6	85,046,320 (GRCm39)	missense	probably damaging	1.00
IGL01912:Exoc6b	APN	6	84,602,156 (GRCm39)	missense	probably damaging	1.00
IGL02441:Exoc6b	APN	6	84,981,990 (GRCm39)	missense	probably damaging	1.00
IGL02947:Exoc6b	APN	6	84,835,411 (GRCm39)	missense	probably benign
IGL02996:Exoc6b	APN	6	84,885,195 (GRCm39)	missense	probably benign	0.01
IGL03132:Exoc6b	APN	6	84,768,246 (GRCm39)	missense	possibly damaging	0.46
IGL03338:Exoc6b	APN	6	84,821,112 (GRCm39)	missense	probably damaging	0.99
R0003:Exoc6b	UTSW	6	84,831,681 (GRCm39)	critical splice donor site	probably null
R0732:Exoc6b	UTSW	6	84,832,504 (GRCm39)	missense	probably damaging	0.99
R1137:Exoc6b	UTSW	6	84,885,205 (GRCm39)	missense	probably benign
R1381:Exoc6b	UTSW	6	84,812,099 (GRCm39)	missense	probably benign
R1723:Exoc6b	UTSW	6	85,046,326 (GRCm39)	missense	probably damaging	1.00
R1838:Exoc6b	UTSW	6	84,830,660 (GRCm39)	missense	probably benign	0.04
R1866:Exoc6b	UTSW	6	84,828,896 (GRCm39)	missense	probably damaging	0.99
R2138:Exoc6b	UTSW	6	84,966,464 (GRCm39)	missense	probably damaging	1.00
R2357:Exoc6b	UTSW	6	84,966,321 (GRCm39)	missense	possibly damaging	0.60
R2987:Exoc6b	UTSW	6	84,828,929 (GRCm39)	missense	probably damaging	0.96
R2988:Exoc6b	UTSW	6	84,828,929 (GRCm39)	missense	probably damaging	0.96
R3415:Exoc6b	UTSW	6	84,867,547 (GRCm39)	missense	possibly damaging	0.81
R3417:Exoc6b	UTSW	6	84,867,547 (GRCm39)	missense	possibly damaging	0.81
R4364:Exoc6b	UTSW	6	84,980,161 (GRCm39)	intron	probably benign
R4610:Exoc6b	UTSW	6	84,980,141 (GRCm39)	intron	probably benign
R4624:Exoc6b	UTSW	6	84,831,791 (GRCm39)	splice site	probably benign
R4845:Exoc6b	UTSW	6	84,812,119 (GRCm39)	missense	probably benign	0.04
R5366:Exoc6b	UTSW	6	84,867,513 (GRCm39)	missense	probably benign
R5603:Exoc6b	UTSW	6	84,812,126 (GRCm39)	missense	possibly damaging	0.96
R5635:Exoc6b	UTSW	6	84,828,909 (GRCm39)	missense	probably damaging	0.99
R5728:Exoc6b	UTSW	6	84,837,173 (GRCm39)	missense	probably damaging	1.00
R6188:Exoc6b	UTSW	6	84,832,479 (GRCm39)	missense	probably damaging	0.99
R7030:Exoc6b	UTSW	6	84,825,807 (GRCm39)	missense	probably damaging	0.99
R7058:Exoc6b	UTSW	6	84,831,704 (GRCm39)	missense	probably damaging	1.00
R7259:Exoc6b	UTSW	6	84,825,792 (GRCm39)	missense	probably benign	0.40
R7574:Exoc6b	UTSW	6	84,768,366 (GRCm39)	critical splice acceptor site	probably null
R7607:Exoc6b	UTSW	6	84,966,391 (GRCm39)	missense	possibly damaging	0.67
R7918:Exoc6b	UTSW	6	85,046,332 (GRCm39)	missense	probably damaging	0.96
R8146:Exoc6b	UTSW	6	84,885,176 (GRCm39)	missense	probably benign	0.00
R8204:Exoc6b	UTSW	6	84,832,504 (GRCm39)	missense	probably damaging	1.00
R8356:Exoc6b	UTSW	6	84,821,077 (GRCm39)	frame shift	probably null
R8456:Exoc6b	UTSW	6	84,821,077 (GRCm39)	frame shift	probably null
R9099:Exoc6b	UTSW	6	84,982,000 (GRCm39)	missense	possibly damaging	0.88
R9608:Exoc6b	UTSW	6	84,602,106 (GRCm39)	critical splice donor site	probably null
R9620:Exoc6b	UTSW	6	84,988,302 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- CTCTCTTTGAGGAAGAATGCAC -3'
(R):5'- CAAAGGCTTGTTGTCAGGAAGG -3'

Sequencing Primer
(F):5'- CTCTTTGAGGAAGAATGCACAAATGC -3'
(R):5'- TCCATAATGAGTAGGTAGCTGGAC -3'

Posted On

2014-09-17