Mutagenetix > Incidental Mutations

Incidental Mutation 'R1660:Exoc3l'

186670

Institutional Source

Beutler Lab

Gene Symbol

Exoc3l

Ensembl Gene

ENSMUSG00000043251

Gene Name

exocyst complex component 3-like

Synonyms

C730015A04Rik

MMRRC Submission

039696-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.252) question?

Stock #

R1660 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

105289924-105296101 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 105293060 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000053766 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000014981] [ENSMUST00000015003] [ENSMUST00000057855] [ENSMUST00000057855] [ENSMUST00000171788] [ENSMUST00000212219] [ENSMUST00000212777] [ENSMUST00000212922]

AlphaFold

Q8BI71

Predicted Effect

probably benign
Transcript: ENSMUST00000014981

SMART Domains

Protein: ENSMUSP00000014981
Gene: ENSMUSG00000014837

Domain	Start	End	E-Value	Type
DUF1704	148	457	1.07e-139	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000015003

SMART Domains

Protein: ENSMUSP00000015003
Gene: ENSMUSG00000014859

Domain	Start	End	E-Value	Type
low complexity region	4	15	N/A	INTRINSIC
E2F_TDP	17	83	3.56e-31	SMART
Pfam:E2F_CC-MB	100	196	2.8e-36	PFAM
low complexity region	201	252	N/A	INTRINSIC
low complexity region	360	372	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000057855

SMART Domains

Protein: ENSMUSP00000053766
Gene: ENSMUSG00000043251

Domain	Start	End	E-Value	Type
Pfam:Sec6	189	722	5.4e-116	PFAM
low complexity region	723	739	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000057855

SMART Domains

Protein: ENSMUSP00000053766
Gene: ENSMUSG00000043251

Domain	Start	End	E-Value	Type
Pfam:Sec6	189	722	5.4e-116	PFAM
low complexity region	723	739	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000171788

SMART Domains

Protein: ENSMUSP00000128530
Gene: ENSMUSG00000014837

Domain	Start	End	E-Value	Type
DUF1704	148	457	1.07e-139	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212037

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212138

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212215

Predicted Effect

probably benign
Transcript: ENSMUST00000212219

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212232

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212261

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212288

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212359

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212529

Predicted Effect

probably benign
Transcript: ENSMUST00000212777

Predicted Effect

probably benign
Transcript: ENSMUST00000212922

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212974

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.4%
20x: 92.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1cf	C	A	19: 31,893,107	S3*	probably null	Het
Adgrv1	C	T	13: 81,476,631	V3740I	probably benign	Het
Aida	T	C	1: 183,297,583	F22S	probably damaging	Het
Ankrd65	A	T	4: 155,792,071	D220V	probably damaging	Het
Antxr2	A	T	5: 97,975,350	C279*	probably null	Het
Ap3b1	T	C	13: 94,408,812	V191A	probably damaging	Het
Arhgef28	T	C	13: 97,981,376	K595E	probably benign	Het
Atp12a	A	G	14: 56,370,848	T98A	probably benign	Het
Cdcp1	A	T	9: 123,185,362	S116T	probably benign	Het
Chrm1	T	C	19: 8,679,218	F429S	possibly damaging	Het
Ckap5	C	A	2: 91,562,958	Q395K	possibly damaging	Het
Cntn4	T	A	6: 106,679,297	I853K	probably benign	Het
Cyp2g1	G	A	7: 26,809,682		probably null	Het
Dhx57	C	T	17: 80,245,728	V1257I	possibly damaging	Het
Disp1	A	T	1: 183,087,742	V1038D	probably damaging	Het
Dmxl2	A	T	9: 54,451,030	S462T	possibly damaging	Het
Fam210a	T	C	18: 68,276,096	T48A	probably benign	Het
Fbxw5	G	A	2: 25,503,274		probably null	Het
Fkbp9	T	C	6: 56,873,449	C437R	probably damaging	Het
Gpc5	A	G	14: 115,399,279	K458R	probably benign	Het
Grik2	C	A	10: 49,244,343	G56*	probably null	Het
Igsf10	T	C	3: 59,331,285	T492A	probably damaging	Het
Kif1c	C	T	11: 70,728,397	L953F	probably damaging	Het
Lrrc51	T	C	7: 101,913,438	Y145C	probably damaging	Het
Lsmem1	GTACATACATACATACATACATACATACA	GTACATACATACATACATACATACATACATACA	12: 40,185,261		probably null	Het
Mapkbp1	A	T	2: 120,018,548	I682F	possibly damaging	Het
Mttp	A	T	3: 138,103,193	V718D	probably damaging	Het
Myt1l	T	A	12: 29,895,273	D1012E	unknown	Het
Nbn	G	A	4: 15,971,771	G301D	probably benign	Het
Ncstn	T	A	1: 172,066,772	S677C	possibly damaging	Het
Nod1	C	A	6: 54,944,233		probably null	Het
Nos1ap	A	G	1: 170,514,637	V52A	possibly damaging	Het
Olfr1450	T	A	19: 12,953,691	I34N	probably damaging	Het
Olfr191	T	A	16: 59,086,343	I47F	probably benign	Het
Olfr568	T	G	7: 102,877,656	Y179D	probably damaging	Het
Olfr619	T	A	7: 103,603,675	L7*	probably null	Het
Phf13	T	C	4: 151,992,505	I77V	probably benign	Het
Pias2	A	G	18: 77,120,129	K230E	probably damaging	Het
Poli	A	G	18: 70,509,464	L469P	probably damaging	Het
Prag1	A	T	8: 36,140,023	T973S	possibly damaging	Het
Prpf40b	C	A	15: 99,305,561	H101Q	probably damaging	Het
Prss50	T	C	9: 110,862,489	V287A	possibly damaging	Het
Rbm25	C	T	12: 83,668,150		probably benign	Het
Rcor2	T	C	19: 7,268,972	V4A	probably damaging	Het
Rnf180	T	C	13: 105,270,991	T17A	probably benign	Het
Robo3	A	T	9: 37,429,144	V179E	probably damaging	Het
Sacs	T	A	14: 61,209,009	S2835T	probably damaging	Het
Serpinb3c	T	A	1: 107,271,702	H363L	probably damaging	Het
Setd1a	T	C	7: 127,796,669		probably benign	Het
Skp2	A	C	15: 9,125,114	V126G	probably benign	Het
Snph	G	A	2: 151,594,478	Q108*	probably null	Het
Snrpa1	T	A	7: 66,069,498	V144E	probably damaging	Het
Tifab	T	C	13: 56,176,435	E65G	probably damaging	Het
Tmem201	A	T	4: 149,719,575	Y468N	probably damaging	Het
Tpcn1	T	C	5: 120,549,515	N388S	possibly damaging	Het
Tssk4	A	G	14: 55,650,572	Q75R	probably null	Het
Tuba4a	T	C	1: 75,215,903	N356D	probably benign	Het
Ugt2b5	T	A	5: 87,139,618	D230V	probably benign	Het
Ush2a	T	C	1: 188,916,064	V4622A	probably benign	Het
Vmn2r11	T	G	5: 109,053,858	Y260S	possibly damaging	Het
Vmn2r89	C	A	14: 51,456,236	H348N	possibly damaging	Het
Vmn2r96	A	T	17: 18,597,726	M714L	probably benign	Het
Wdr92	A	T	11: 17,227,183	E180D	probably benign	Het
Zbtb18	T	C	1: 177,447,763	S221P	probably benign	Het
Zfp418	A	G	7: 7,181,790	T251A	probably benign	Het
Zmynd15	A	G	11: 70,463,502	Y267C	probably damaging	Het

Other mutations in Exoc3l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00949:Exoc3l	APN	8	105290498	missense	probably benign	0.25
IGL01731:Exoc3l	APN	8	105292955	missense	probably benign	0.16
IGL02364:Exoc3l	APN	8	105290577	missense	possibly damaging	0.71
IGL02413:Exoc3l	APN	8	105292438	missense	probably damaging	1.00
IGL02512:Exoc3l	APN	8	105290483	missense	probably damaging	1.00
IGL02810:Exoc3l	APN	8	105295348	missense	probably damaging	1.00
R0045:Exoc3l	UTSW	8	105293685	missense	probably damaging	1.00
R0045:Exoc3l	UTSW	8	105293685	missense	probably damaging	1.00
R0183:Exoc3l	UTSW	8	105295300	missense	probably damaging	1.00
R0302:Exoc3l	UTSW	8	105293543	missense	probably benign	0.01
R1699:Exoc3l	UTSW	8	105295013	missense	probably benign	0.34
R1826:Exoc3l	UTSW	8	105293618	missense	probably damaging	0.97
R2275:Exoc3l	UTSW	8	105290447	critical splice donor site	probably null
R3928:Exoc3l	UTSW	8	105290917	unclassified	probably benign
R3938:Exoc3l	UTSW	8	105293405	missense	probably damaging	1.00
R4261:Exoc3l	UTSW	8	105290967	missense	probably damaging	0.98
R4273:Exoc3l	UTSW	8	105289961	makesense	probably null
R5518:Exoc3l	UTSW	8	105293163	missense	probably benign	0.27
R6471:Exoc3l	UTSW	8	105290534	missense	probably damaging	1.00
R6511:Exoc3l	UTSW	8	105293255	missense	probably benign	0.00
R6631:Exoc3l	UTSW	8	105295361	missense	probably damaging	1.00
R6694:Exoc3l	UTSW	8	105290490	missense	probably benign	0.15
R6843:Exoc3l	UTSW	8	105290097	missense	probably benign	0.00
R7310:Exoc3l	UTSW	8	105293708	missense	probably damaging	1.00
R7387:Exoc3l	UTSW	8	105294973	missense	probably damaging	1.00
R7442:Exoc3l	UTSW	8	105292926	missense	probably damaging	1.00
R7764:Exoc3l	UTSW	8	105290701	missense	possibly damaging	0.62
R7845:Exoc3l	UTSW	8	105290150	missense	probably damaging	1.00
R8748:Exoc3l	UTSW	8	105290145	missense	probably damaging	0.98
R8879:Exoc3l	UTSW	8	105290549	missense
Z1176:Exoc3l	UTSW	8	105290794	missense	possibly damaging	0.74

Predicted Primers

PCR Primer
(F):5'- GCCTTCAGACATTTCCTAGACCCG -3'
(R):5'- GCTCAGTGTGACATCCTGCTATCC -3'

Sequencing Primer
(F):5'- CCATATGCGAGCTGCCTAC -3'
(R):5'- CTGCTATCCATCTCTAGGAAGG -3'

Posted On

2014-05-09