Mutagenetix > Incidental Mutation

Incidental Mutation 'R7607:Exoc6b'

588365

Institutional Source

Beutler Lab

Gene Symbol

Exoc6b

Ensembl Gene

ENSMUSG00000033769

Gene Name

exocyst complex component 6B

Synonyms

Sec15b, Sec15l2, 4930569O18Rik, G430127E12Rik

MMRRC Submission

045677-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.848) question?

Stock #

R7607 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

84595469-85046495 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 84966391 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 194 (K194N)

Ref Sequence

ENSEMBL: ENSMUSP00000125312 (fasta)

Gene Model

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

AlphaFold

A6H5Z3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000160197
AA Change: K194N

PolyPhen 2 Score 0.673 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000125312
Gene: ENSMUSG00000033769
AA Change: K194N

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: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

99% (69/70)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610010K14Rik	A	T	11: 70,128,383 (GRCm39)	H30Q	probably damaging	Het
A930009A15Rik	G	A	10: 115,417,894 (GRCm39)		probably null	Het
Abca7	T	C	10: 79,847,667 (GRCm39)	L1779P	probably damaging	Het
Aff1	G	A	5: 103,997,325 (GRCm39)	V1140I	possibly damaging	Het
Ano2	C	T	6: 125,689,382 (GRCm39)	A169V	probably damaging	Het
Atat1	T	C	17: 36,219,999 (GRCm39)	Y101C	possibly damaging	Het
Atp6v1c1	T	C	15: 38,683,255 (GRCm39)		probably null	Het
Atp7b	T	G	8: 22,501,522 (GRCm39)	K912T	probably damaging	Het
Ceacam14	T	C	7: 17,548,246 (GRCm39)	V112A	possibly damaging	Het
Cfap107	T	A	4: 144,146,332 (GRCm39)	H107L	probably damaging	Het
Cobll1	T	C	2: 64,926,201 (GRCm39)	N1119S	probably benign	Het
Csmd1	G	T	8: 15,968,331 (GRCm39)	Q3099K	possibly damaging	Het
Cyp3a25	A	G	5: 145,921,791 (GRCm39)	V381A	possibly damaging	Het
Dctn1	C	T	6: 83,172,051 (GRCm39)	R948*	probably null	Het
Dhrs3	A	G	4: 144,650,510 (GRCm39)	T219A	probably benign	Het
Epha7	C	T	4: 28,871,937 (GRCm39)	S422L	probably benign	Het
Esrp1	A	G	4: 11,384,449 (GRCm39)	V78A	probably damaging	Het
Evc2	A	G	5: 37,544,200 (GRCm39)	T650A	possibly damaging	Het
Fer1l6	G	A	15: 58,534,581 (GRCm39)	W1809*	probably null	Het
Frmd4a	T	A	2: 4,596,747 (GRCm39)	L156*	probably null	Het
Gk5	A	T	9: 96,035,263 (GRCm39)		probably null	Het
Gm3573	A	G	14: 42,011,707 (GRCm39)	F8L	probably benign	Het
Gm9767	G	A	10: 25,954,838 (GRCm39)	C130Y	unknown	Het
Grip2	T	C	6: 91,765,393 (GRCm39)	T30A	probably benign	Het
Gskip	C	A	12: 105,665,156 (GRCm39)	A65E	possibly damaging	Het
Gtf2e2	A	G	8: 34,266,493 (GRCm39)	R259G	probably benign	Het
Gucy1b2	T	A	14: 62,656,626 (GRCm39)	I244F	probably damaging	Het
Gxylt2	G	T	6: 100,775,151 (GRCm39)	V357L	possibly damaging	Het
Hivep3	CGG	CG	4: 119,955,108 (GRCm39)	1141	probably null	Het
Igdcc4	C	T	9: 65,041,040 (GRCm39)	P1024S	possibly damaging	Het
Ino80	A	T	2: 119,212,750 (GRCm39)		probably null	Het
Knl1	T	C	2: 118,925,614 (GRCm39)	F1881S	possibly damaging	Het
Mbd6	T	C	10: 127,121,099 (GRCm39)	E518G	unknown	Het
Mlh1	A	G	9: 111,058,958 (GRCm39)	S689P	probably damaging	Het
Mmrn2	T	C	14: 34,120,897 (GRCm39)	I589T	possibly damaging	Het
Mtmr12	C	T	15: 12,257,794 (GRCm39)	Q291*	probably null	Het
Mup8	T	A	4: 60,222,035 (GRCm39)	I33F	probably benign	Het
Mylk	C	T	16: 34,715,184 (GRCm39)	P504L	probably benign	Het
Ntrk3	C	T	7: 77,900,621 (GRCm39)	A573T	probably benign	Het
Obscn	G	T	11: 58,889,091 (GRCm39)	S7560R	unknown	Het
Or1m1	A	G	9: 18,666,178 (GRCm39)	F251S	possibly damaging	Het
Or52z12	A	C	7: 103,234,137 (GRCm39)	T303P	probably damaging	Het
Pde1c	T	C	6: 56,127,613 (GRCm39)	T391A	probably damaging	Het
Pla2g4d	T	A	2: 120,119,457 (GRCm39)	H19L	probably benign	Het
Plce1	C	A	19: 38,513,196 (GRCm39)	A165E	probably benign	Het
Polr1a	T	C	6: 71,890,005 (GRCm39)	S75P	probably benign	Het
Psg21	T	C	7: 18,388,708 (GRCm39)	E128G	probably benign	Het
Radil	A	G	5: 142,492,368 (GRCm39)	I420T	probably damaging	Het
Radil	A	T	5: 142,480,550 (GRCm39)	M635K	probably damaging	Het
Rnase11	G	A	14: 51,287,029 (GRCm39)	T175I	probably damaging	Het
Robo1	C	T	16: 72,360,626 (GRCm39)	P13S		Het
Slc18a2	C	A	19: 59,272,790 (GRCm39)	A364D	probably benign	Het
Snph	C	T	2: 151,436,506 (GRCm39)	D141N	probably damaging	Het
Snrnp70	T	C	7: 45,041,688 (GRCm39)	K70R	possibly damaging	Het
Snx33	T	C	9: 56,833,997 (GRCm39)	D24G	probably benign	Het
Spag6	T	A	2: 18,736,773 (GRCm39)	D165E	possibly damaging	Het
Spata31	T	G	13: 65,069,406 (GRCm39)	L518R	probably damaging	Het
Spata31e3	T	C	13: 50,404,296 (GRCm39)	E2G	possibly damaging	Het
Sspo	G	A	6: 48,466,661 (GRCm39)	V4059M	probably damaging	Het
St6galnac2	T	C	11: 116,570,805 (GRCm39)	Y261C	probably damaging	Het
Stoml1	A	G	9: 58,163,941 (GRCm39)	R87G	probably damaging	Het
Suv39h2	T	C	2: 3,475,866 (GRCm39)	T40A	unknown	Het
Terb2	G	T	2: 122,016,956 (GRCm39)	G26W	probably damaging	Het
Tmem62	T	C	2: 120,826,921 (GRCm39)	I406T	probably benign	Het
Tnfrsf11a	G	A	1: 105,772,458 (GRCm39)	V582I	probably benign	Het
Tpsg1	G	T	17: 25,592,184 (GRCm39)	G86V	probably damaging	Het
Unc13c	T	C	9: 73,576,817 (GRCm39)	D1480G	probably damaging	Het
Urb1	CACTTAC	CAC	16: 90,569,461 (GRCm39)		probably benign	Het
Vmn1r48	C	A	6: 90,012,962 (GRCm39)	V288L	probably benign	Het
Vmn2r13	A	G	5: 109,321,506 (GRCm39)	V397A	probably damaging	Het
Vmn2r98	A	G	17: 19,287,570 (GRCm39)	N468D	possibly damaging	Het
Zfhx2	G	T	14: 55,303,688 (GRCm39)	T1432K	possibly damaging	Het
Zswim5	T	A	4: 116,843,939 (GRCm39)	D992E	possibly 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
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'- GACGGACCTTCCTAAAATGAGTTAAG -3'
(R):5'- TGTACAACAAAAGCTAATCGAGGTTAG -3'

Sequencing Primer
(F):5'- AGAAGTAATTAACATACTTGCCAAGG -3'
(R):5'- ACTGGAGCATCTGGAACA -3'

Posted On

2019-10-24