Mutagenetix > Incidental Mutation

Incidental Mutation 'R6694:Exoc3l'

528503

Institutional Source

Beutler Lab

Gene Symbol

Exoc3l

Ensembl Gene

ENSMUSG00000043251

Gene Name

exocyst complex component 3-like

Synonyms

C730015A04Rik

MMRRC Submission

044812-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.259) question?

Stock #

R6694 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

105289924-105296101 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 105290490 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 622 (R622G)

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 benign
Transcript: ENSMUST00000057855
AA Change: R622G

PolyPhen 2 Score 0.154 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000053766
Gene: ENSMUSG00000043251
AA Change: R622G

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

probably benign
Transcript: ENSMUST00000212777

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212529

Predicted Effect

probably benign
Transcript: ENSMUST00000212922

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212974

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 95.7%

Validation Efficiency

95% (41/43)

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600015I10Rik	G	A	6: 48,930,546	S160N	probably benign	Het
4930444G20Rik	T	C	10: 22,067,721	E120G	probably damaging	Het
Arap3	A	C	18: 37,991,537		probably null	Het
Arhgap10	A	G	8: 77,411,063	F300L	probably benign	Het
Ccdc116	T	C	16: 17,142,791	E54G	probably benign	Het
Cd53	T	A	3: 106,767,386	I122F	probably benign	Het
Ctnnd1	T	C	2: 84,624,505		probably benign	Het
Ddx60	A	G	8: 62,037,070	D1691G	probably damaging	Het
Dnah11	T	C	12: 118,186,882		probably null	Het
Exoc1	T	A	5: 76,549,552	M392K	probably damaging	Het
Grid2	C	G	6: 63,931,047	R224G	possibly damaging	Het
Kif20a	A	G	18: 34,625,526	E16G	probably damaging	Het
Kit	T	C	5: 75,640,757	V568A	possibly damaging	Het
Lhx4	T	C	1: 155,704,710	S257G	probably benign	Het
Med18	C	T	4: 132,459,982	V114I	probably benign	Het
Mrps30	C	T	13: 118,386,961	V92M	possibly damaging	Het
Mtrr	C	T	13: 68,564,333	V645I	probably benign	Het
Nuak2	T	G	1: 132,332,310	S609A	probably damaging	Het
Olfr1393	A	T	11: 49,280,552	I135F	probably benign	Het
Plk4	T	C	3: 40,801,828	V58A	probably damaging	Het
Polq	T	A	16: 37,015,173	F145L	probably null	Het
Rab11fip2	T	C	19: 59,937,275	K170R	probably damaging	Het
Rapgef3	A	G	15: 97,759,984	V246A	probably benign	Het
Rc3h2	A	G	2: 37,400,543	S316P	probably damaging	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,579,904		probably benign	Homo
Rsf1	GCGGCGGC	GCGGCGGCGACGGCGGC	7: 97,579,928		probably benign	Het
Sae1	G	T	7: 16,368,536	A171E	probably damaging	Het
Setd5	T	A	6: 113,143,708	N959K	probably benign	Het
Siae	T	A	9: 37,616,823	Y31N	probably damaging	Het
Sit1	C	T	4: 43,483,311	G51D	probably damaging	Het
Slc5a11	A	G	7: 123,267,789	I436V	possibly damaging	Het
Tcfl5	A	G	2: 180,622,654	S470P	probably damaging	Het
Timd2	A	T	11: 46,670,952	C288*	probably null	Het
Timeless	T	G	10: 128,239,999		probably null	Het
Ubxn8	G	T	8: 33,621,544	Q274K	possibly damaging	Het
Usp29	A	G	7: 6,962,277	E373G	probably benign	Het
Zap70	A	G	1: 36,782,517	Y597C	probably damaging	Het
Zfp523	T	G	17: 28,200,472	Y195D	probably damaging	Het
Zfp74	G	A	7: 29,935,134	A383V	probably damaging	Het
Zfp93	A	T	7: 24,275,913	Q441L	probably damaging	Het
Zfp976	A	T	7: 42,614,186	Y76N	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
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
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'- AGGTTGAGCAGTTCCCTCAG -3'
(R):5'- CACTTCTGCCAGGACTTCTG -3'

Sequencing Primer
(F):5'- AGTTCCCTCAGCGCGAG -3'
(R):5'- ACGGAAGCCTGGTGTTCAG -3'

Posted On

2018-07-24