Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02413:Exoc3l'

292350

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Exoc3l

Ensembl Gene

ENSMUSG00000043251

Gene Name

exocyst complex component 3-like

Synonyms

C730015A04Rik

Accession Numbers

Is this an essential gene?

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

Stock #

IGL02413

Quality Score

Status

Chromosome

Chromosomal Location

105289924-105296101 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 105292438 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Tyrosine at position 465 (D465Y)

Ref Sequence

ENSEMBL: ENSMUSP00000053766 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000014981] [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 damaging
Transcript: ENSMUST00000057855
AA Change: D465Y

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000053766
Gene: ENSMUSG00000043251
AA Change: D465Y

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: 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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc5	C	A	16: 20,422,437		probably benign	Het
Afap1l1	A	G	18: 61,733,789	L733P	probably benign	Het
Aqr	G	A	2: 114,118,780	A979V	possibly damaging	Het
Axin1	A	G	17: 26,188,179	E582G	probably benign	Het
Catsper1	T	C	19: 5,336,236	S166P	possibly damaging	Het
Cd248	G	T	19: 5,070,173	G683V	probably damaging	Het
Celsr1	G	T	15: 86,031,226	Q849K	possibly damaging	Het
Ctnnal1	C	A	4: 56,835,306	V324F	probably benign	Het
Ctrc	C	A	4: 141,843,717	V71L	possibly damaging	Het
Fam205c	T	C	4: 42,868,549	D358G	probably damaging	Het
Flna	T	C	X: 74,241,282	E417G	probably benign	Het
Grm6	T	A	11: 50,859,939	V643D	probably damaging	Het
Inpp4b	A	G	8: 82,033,171	Y615C	probably benign	Het
Itga3	T	C	11: 95,068,771	Y92C	probably damaging	Het
Jak3	T	C	8: 71,686,119		probably null	Het
Kcnh6	T	A	11: 106,027,634	I823N	possibly damaging	Het
Klhl38	A	T	15: 58,323,021	V104D	probably damaging	Het
Lpo	C	T	11: 87,806,906	V692M	possibly damaging	Het
Mnd1	T	C	3: 84,116,479	H100R	probably benign	Het
Mterf4	A	G	1: 93,302,804	F207L	probably damaging	Het
Olfr1395	T	C	11: 49,148,557	L100P	probably damaging	Het
Oog3	C	A	4: 144,158,151	W405L	probably benign	Het
Ptpn3	A	G	4: 57,205,020	Y714H	probably damaging	Het
Steap3	T	C	1: 120,241,772	Y265C	probably damaging	Het
Tcl1	C	A	12: 105,218,823	E43*	probably null	Het
Terb1	A	G	8: 104,494,868		probably null	Het
Tmprss11a	T	A	5: 86,422,648	I151F	possibly damaging	Het
Trappc10	T	C	10: 78,210,776	R430G	probably damaging	Het
Usp17le	T	C	7: 104,769,726	N70D	probably benign	Het
Vmn1r45	T	C	6: 89,933,521	S36G	possibly damaging	Het
Vsig8	A	C	1: 172,560,376	Y11S	probably damaging	Het
Vwa5b2	T	A	16: 20,598,101	L516Q	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
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
R1660:Exoc3l	UTSW	8	105293060	critical splice donor site	probably null
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

Posted On

2015-04-16