Mutagenetix > Incidental Mutation

Incidental Mutation 'R9620:Exoc6b'

724704

Institutional Source

Beutler Lab

Gene Symbol

Exoc6b

Ensembl Gene

ENSMUSG00000033769

Gene Name

exocyst complex component 6B

Synonyms

Sec15b, Sec15l2, 4930569O18Rik, G430127E12Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.848) question?

Stock #

R9620 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

84595469-85046495 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 84988302 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 92 (K92*)

Ref Sequence

ENSEMBL: ENSMUSP00000125312 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000160197] [ENSMUST00000162821]

AlphaFold

A6H5Z3

Predicted Effect

probably null
Transcript: ENSMUST00000160197
AA Change: K92*

SMART Domains

Protein: ENSMUSP00000125312
Gene: ENSMUSG00000033769
AA Change: K92*

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

Predicted Effect

probably benign
Transcript: ENSMUST00000162821

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd3	G	T	18: 10,704,605 (GRCm39)	T151K	possibly damaging	Het
Acsf2	C	T	11: 94,463,412 (GRCm39)	W130*	probably null	Het
Aldh16a1	G	A	7: 44,797,413 (GRCm39)	R132*	probably null	Het
Amer3	C	T	1: 34,628,043 (GRCm39)	P761S	probably benign	Het
Amotl1	G	T	9: 14,459,969 (GRCm39)	D886E	probably damaging	Het
Cacna1s	T	C	1: 136,035,909 (GRCm39)	F1383S	probably damaging	Het
Col14a1	T	A	15: 55,225,781 (GRCm39)	V148E	unknown	Het
Col9a2	T	A	4: 120,910,403 (GRCm39)		probably null	Het
Cyp2a5	T	A	7: 26,536,636 (GRCm39)	M205K	possibly damaging	Het
Dcst2	A	T	3: 89,277,825 (GRCm39)	Q466L	possibly damaging	Het
Ecel1	T	C	1: 87,080,853 (GRCm39)	I350V	possibly damaging	Het
Enthd1	G	A	15: 80,336,901 (GRCm39)	T511I	probably benign	Het
Fam181a	T	G	12: 103,282,591 (GRCm39)	Y165*	probably null	Het
Fbxo34	A	G	14: 47,768,725 (GRCm39)	Y746C	probably damaging	Het
Fgfr4	T	A	13: 55,308,994 (GRCm39)	S372T	possibly damaging	Het
Fmo1	A	G	1: 162,661,390 (GRCm39)	F298L	probably benign	Het
Gad1	A	C	2: 70,404,620 (GRCm39)	D170A	possibly damaging	Het
Garin2	A	C	12: 78,762,077 (GRCm39)	D247A	probably damaging	Het
Golgb1	T	C	16: 36,739,811 (GRCm39)	S2758P	probably benign	Het
Golm2	T	C	2: 121,737,242 (GRCm39)	V261A	probably benign	Het
H2az2	A	T	11: 6,379,094 (GRCm39)		probably null	Het
Ilkap	A	G	1: 91,303,973 (GRCm39)	C163R		Het
Krt9	A	T	11: 100,079,186 (GRCm39)	D735E	unknown	Het
Lipo3	A	T	19: 33,559,629 (GRCm39)	C80*	probably null	Het
Lpcat3	C	T	6: 124,680,543 (GRCm39)	P478L	probably damaging	Het
Luc7l3	G	A	11: 94,212,545 (GRCm39)	R24C	unknown	Het
Mafa	T	A	15: 75,619,161 (GRCm39)	H204L	probably benign	Het
Mapk10	A	C	5: 103,114,473 (GRCm39)	V305G	probably damaging	Het
Mgat1	T	C	11: 49,152,122 (GRCm39)	F202L	probably benign	Het
Mical2	A	T	7: 111,980,403 (GRCm39)	T126S	probably benign	Het
Mill1	G	A	7: 17,997,027 (GRCm39)	R206H	probably benign	Het
Nlrc5	A	T	8: 95,203,034 (GRCm39)	Y378F	probably benign	Het
Nlrp9a	G	T	7: 26,250,469 (GRCm39)	R78L	probably damaging	Het
Or10b1	G	T	10: 78,356,128 (GRCm39)	A229S	probably benign	Het
Or52i2	A	T	7: 102,320,011 (GRCm39)	I295F	possibly damaging	Het
Or8g50	A	T	9: 39,648,287 (GRCm39)	M59L		Het
Orc6	A	T	8: 86,026,430 (GRCm39)		probably benign	Het
Pate14	A	G	9: 36,548,498 (GRCm39)		probably null	Het
Pcdhgb5	C	T	18: 37,864,486 (GRCm39)	Q94*	probably null	Het
Pcnx1	A	G	12: 81,996,960 (GRCm39)	D952G	probably damaging	Het
Ppfia2	A	T	10: 106,749,519 (GRCm39)	H1135L		Het
Prmt2	A	T	10: 76,061,213 (GRCm39)	I91N	probably damaging	Het
Ptprm	A	G	17: 67,116,484 (GRCm39)	Y932H	probably damaging	Het
Qrich2	T	C	11: 116,337,946 (GRCm39)	K154R	probably damaging	Het
Rapgef4	A	G	2: 72,036,051 (GRCm39)	T515A	probably benign	Het
Rgmb	G	A	17: 16,041,279 (GRCm39)	R103*	probably null	Het
Ripk1	T	G	13: 34,210,806 (GRCm39)	S334A	possibly damaging	Het
Rnf5	C	T	17: 34,820,721 (GRCm39)	G147S	possibly damaging	Het
Ryr1	T	C	7: 28,715,138 (GRCm39)	Y4662C	unknown	Het
Secisbp2l	A	G	2: 125,589,394 (GRCm39)	M718T	probably damaging	Het
Slc16a6	T	C	11: 109,354,322 (GRCm39)	T100A	probably benign	Het
Slc27a6	T	A	18: 58,742,887 (GRCm39)	M525K	probably damaging	Het
Slco2a1	G	C	9: 102,962,065 (GRCm39)	C579S	probably damaging	Het
Snx14	A	G	9: 88,263,794 (GRCm39)	S864P	probably damaging	Het
Spata31f3	TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG	TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG	4: 42,871,823 (GRCm39)		probably benign	Het
Sptbn2	T	C	19: 4,800,535 (GRCm39)	L2250P	probably damaging	Het
Tlr6	A	T	5: 65,112,146 (GRCm39)	S254T	possibly damaging	Het
Trap1	A	T	16: 3,858,083 (GRCm39)	Y675*	probably null	Het
Ttc9b	C	A	7: 27,353,512 (GRCm39)	A54E	probably damaging	Het
Unc45a	A	C	7: 79,975,403 (GRCm39)	Y934D	probably damaging	Het
Usp17ld	A	G	7: 102,900,179 (GRCm39)	L251P	possibly damaging	Het
Usp42	A	G	5: 143,703,154 (GRCm39)	V489A	probably damaging	Het
Vars1	A	G	17: 35,235,001 (GRCm39)	T1277A	unknown	Het
Vmn2r117	A	G	17: 23,697,450 (GRCm39)	S81P	probably damaging	Het
Vmn2r69	T	A	7: 85,061,504 (GRCm39)	I157F	probably benign	Het
Zfp697	A	G	3: 98,335,182 (GRCm39)	S316G	probably damaging	Het
Zfp729b	T	A	13: 67,739,787 (GRCm39)	H826L	probably damaging	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
R2122:Exoc6b	UTSW	6	84,598,464 (GRCm39)	missense	probably benign	0.01
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

Predicted Primers

PCR Primer
(F):5'- ATGCACCTTCACCTGGACTC -3'
(R):5'- AGAATGGACTCAGTTGGTGG -3'

Sequencing Primer
(F):5'- CCTGGACTCTCTATTTGAAAAGTGG -3'
(R):5'- CCTCAGAAGTACTGTAATCTTCATGC -3'

Posted On

2022-09-12