Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01731:Exoc3l'

105472

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 #

IGL01731

Quality Score

Status

Chromosome

Chromosomal Location

105289924-105296101 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 105292955 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Threonine at position 394 (K394T)

Ref Sequence

ENSEMBL: ENSMUSP00000053766 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000014981] [ENSMUST00000015003] [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 benign
Transcript: ENSMUST00000057855
AA Change: K394T

PolyPhen 2 Score 0.159 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000053766
Gene: ENSMUSG00000043251
AA Change: K394T

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

noncoding transcript
Transcript: ENSMUST00000212974

Predicted Effect

probably benign
Transcript: ENSMUST00000212922

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A430093F15Rik	T	A	19: 10,785,347		probably benign	Het
Abca13	T	C	11: 9,249,749		probably benign	Het
Abcc6	G	A	7: 46,002,610	P611L	possibly damaging	Het
Acsl6	A	G	11: 54,350,559	E547G	probably benign	Het
Aldh1b1	T	C	4: 45,803,472	F337L	possibly damaging	Het
Alg1	C	T	16: 5,244,519	R422C	probably benign	Het
Ankrd23	A	G	1: 36,534,066	L75S	probably damaging	Het
Arid5b	T	C	10: 68,097,609	H578R	probably damaging	Het
Atp10a	G	T	7: 58,797,562	W684L	probably benign	Het
Bzw2	T	C	12: 36,107,648		probably null	Het
C2cd2	A	T	16: 97,870,172	I509K	probably damaging	Het
Card11	T	C	5: 140,882,302	T864A	possibly damaging	Het
Ces1f	A	G	8: 93,267,320	S278P	possibly damaging	Het
Chd8	T	C	14: 52,212,654	I208V	probably benign	Het
Cstf2t	T	C	19: 31,084,338	S425P	probably benign	Het
Cxcl1	A	G	5: 90,891,577	T60A	probably benign	Het
Diaph1	G	T	18: 37,853,709		probably benign	Het
Fabp4	T	C	3: 10,205,233		probably benign	Het
Fam234b	T	A	6: 135,211,905	F169L	possibly damaging	Het
Hectd1	C	A	12: 51,802,810	D204Y	possibly damaging	Het
Hephl1	A	T	9: 15,069,770	Y789N	probably damaging	Het
Igfbp6	C	A	15: 102,144,817	N90K	probably benign	Het
Khdrbs1	A	T	4: 129,725,669	D226E	probably benign	Het
Lipo4	T	A	19: 33,512,613	Q163L	probably damaging	Het
Med13l	T	C	5: 118,742,407	I1188T	probably benign	Het
Mki67	T	C	7: 135,696,549	E2252G	probably benign	Het
Nepn	G	T	10: 52,400,564	R132L	probably benign	Het
Nlrp9b	T	A	7: 20,023,417	L193*	probably null	Het
Ntn1	A	G	11: 68,385,418	S235P	probably damaging	Het
Nup210l	G	T	3: 90,154,566	R684L	probably damaging	Het
Obp2b	A	G	2: 25,739,281	S154G	possibly damaging	Het
Olfr1129	A	G	2: 87,575,938	T285A	probably benign	Het
Olfr1308	A	G	2: 111,960,635	V146A	probably benign	Het
Olfr491	A	T	7: 108,317,475	I194F	probably benign	Het
Olfr623	T	A	7: 103,660,846	T135S	probably benign	Het
Polr3b	A	T	10: 84,631,840	R95*	probably null	Het
Prelid2	C	T	18: 41,937,649	V40M	probably benign	Het
Ptprb	T	G	10: 116,372,876	L2205R	probably damaging	Het
R3hcc1l	T	C	19: 42,562,801	V79A	probably benign	Het
Rnf219	T	C	14: 104,479,302	D545G	probably damaging	Het
Stam2	A	G	2: 52,708,150	I259T	probably damaging	Het
Tdpoz4	A	T	3: 93,796,882	N162I	possibly damaging	Het
Tuba3a	A	G	6: 125,282,758	V75A	possibly damaging	Het
Vmn2r73	A	T	7: 85,857,549	*852K	probably null	Het
Wdr78	T	C	4: 103,062,435	I139V	probably benign	Het
Zfp7	C	T	15: 76,888,305	Q69*	probably null	Het
Zfp865	G	T	7: 5,029,876	A287S	probably benign	Het
Zmpste24	T	A	4: 121,097,884	Q39L	probably benign	Het

Other mutations in Exoc3l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00949:Exoc3l	APN	8	105290498	missense	probably benign	0.25
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
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

2014-01-21