Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02512:Exoc3l'

296585

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 #

IGL02512

Quality Score

Status

Chromosome

Chromosomal Location

105289924-105296101 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 105290483 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 624 (D624V)

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: D624V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000053766
Gene: ENSMUSG00000043251
AA Change: D624V

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alg10b	C	A	15: 90,227,549	H199N	probably benign	Het
Ankrd13a	T	A	5: 114,786,766	M104K	probably benign	Het
Ankrd37	A	G	8: 45,999,288	L48P	probably damaging	Het
Ankzf1	T	A	1: 75,192,578	L43M	probably damaging	Het
Ano10	A	C	9: 122,272,474	V77G	possibly damaging	Het
Arg2	G	A	12: 79,147,743	V114I	probably benign	Het
Asah1	A	C	8: 41,360,307		probably benign	Het
Clpx	A	C	9: 65,310,251	I34L	probably benign	Het
Cnga2	G	A	X: 72,008,925	V469I	probably damaging	Het
D230025D16Rik	G	A	8: 105,234,478		probably benign	Het
Dock9	A	T	14: 121,619,538		probably benign	Het
Eaf1	A	G	14: 31,497,786	T61A	possibly damaging	Het
Fancd2	A	G	6: 113,570,943	D927G	probably damaging	Het
Fbn1	A	T	2: 125,338,460	Y1801N	probably damaging	Het
Garnl3	A	G	2: 33,031,138	Y292H	probably damaging	Het
Gpr174	A	T	X: 107,292,971	K130*	probably null	Het
Greb1	C	T	12: 16,692,712	V1379I	possibly damaging	Het
Grik2	A	T	10: 49,355,912	D507E	probably benign	Het
Gsn	A	T	2: 35,283,950	K24*	probably null	Het
Ift80	A	G	3: 68,927,725		probably null	Het
Inpp5j	T	A	11: 3,499,661	Y707F	probably damaging	Het
Ints13	A	T	6: 146,576,357	D31E	probably damaging	Het
Kcnh1	T	C	1: 192,505,381	F717L	possibly damaging	Het
Klhdc8a	T	C	1: 132,303,157		probably null	Het
Klkb1	G	A	8: 45,276,240		probably benign	Het
Krt16	A	T	11: 100,246,336		probably benign	Het
Msh6	T	C	17: 87,984,732	V305A	probably benign	Het
Myo6	T	A	9: 80,292,519		probably null	Het
Nampt	T	A	12: 32,830,269	Y54N	possibly damaging	Het
Neurog2	G	T	3: 127,633,855	E43*	probably null	Het
Obscn	C	T	11: 59,028,517	R6887H	probably damaging	Het
Olfr1124	A	G	2: 87,435,058	I190M	possibly damaging	Het
Olfr209	T	C	16: 59,361,808	N137D	possibly damaging	Het
Olfr772	A	G	10: 129,174,250	I257T	possibly damaging	Het
Pdss1	A	G	2: 22,912,646	I166V	probably damaging	Het
Ptpn21	T	C	12: 98,679,392	T1096A	probably benign	Het
Reln	A	G	5: 22,040,427	Y728H	probably benign	Het
Sec31a	T	C	5: 100,407,193	D56G	probably damaging	Het
Shroom1	T	A	11: 53,466,559	V683E	probably damaging	Het
Slc5a11	A	G	7: 123,265,255	D358G	probably damaging	Het
Slfn3	T	A	11: 83,213,025	S241T	possibly damaging	Het
Slitrk3	G	A	3: 73,050,402	P346S	probably benign	Het
Specc1	T	A	11: 62,118,389	S324T	probably damaging	Het
Sptlc3	T	C	2: 139,547,203	Y168H	probably damaging	Het
St3gal6	C	T	16: 58,473,459	E236K	probably benign	Het
Tet2	A	T	3: 133,469,308	M1426K	probably benign	Het
Tinag	A	T	9: 77,031,787		probably benign	Het
Tjp1	A	G	7: 65,343,667	S53P	probably damaging	Het
Uimc1	T	C	13: 55,040,618	T543A	possibly damaging	Het
Wdfy4	A	G	14: 33,042,491	W2147R	probably benign	Het
Zmym1	C	T	4: 127,048,672	C641Y	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
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