Mutagenetix > Incidental Mutations

Incidental Mutation 'R7764:Exoc3l'

598127

Institutional Source

Beutler Lab

Gene Symbol

Exoc3l

Ensembl Gene

ENSMUSG00000043251

Gene Name

exocyst complex component 3-like

Synonyms

C730015A04Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

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

Stock #

R7764 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

105289924-105296101 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 105290701 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 577 (V577A)

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

possibly damaging
Transcript: ENSMUST00000057855
AA Change: V577A

PolyPhen 2 Score 0.623 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000053766
Gene: ENSMUSG00000043251
AA Change: V577A

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

probably benign
Transcript: ENSMUST00000212219

Predicted Effect

probably benign
Transcript: ENSMUST00000212777

Predicted Effect

probably benign
Transcript: ENSMUST00000212922

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcf3	T	G	16: 20,549,290	L93V	probably benign	Het
Adss	A	C	1: 177,764,261	M452R	probably damaging	Het
Aldh3b1	T	A	19: 3,921,563	K102*	probably null	Het
Ccdc162	A	T	10: 41,690,113	V78D	possibly damaging	Het
Ccr3	T	C	9: 124,029,414	V262A	probably benign	Het
Cdk13	A	T	13: 17,721,305		probably null	Het
Cdyl	A	T	13: 35,816,143	T136S	possibly damaging	Het
Chd2	T	C	7: 73,471,819	D1015G	probably null	Het
Cntn2	C	A	1: 132,522,363	A598S	probably benign	Het
Cxxc4	G	T	3: 134,240,095	G146C	unknown	Het
Dnah2	G	A	11: 69,458,158	T2501I	probably benign	Het
Dock8	T	A	19: 25,097,535	I471N	probably benign	Het
Eaf2	A	G	16: 36,824,683	V59A	probably damaging	Het
Egflam	T	A	15: 7,318,255	I65F	probably damaging	Het
Folh1	A	T	7: 86,762,918	M215K	probably benign	Het
Fosb	T	C	7: 19,305,046	D271G	possibly damaging	Het
Frmd4b	A	G	6: 97,295,930	Y834H	probably damaging	Het
Fsip2	T	C	2: 82,980,908	S2524P	possibly damaging	Het
Gbp3	A	G	3: 142,565,263	T143A	probably benign	Het
Grk2	A	T	19: 4,287,363	L632Q	probably damaging	Het
Hars	A	T	18: 36,770,184	D364E	probably damaging	Het
Hsd17b4	G	T	18: 50,146,415	G154*	probably null	Het
Kif5c	T	C	2: 49,727,961		probably null	Het
Kif5c	T	C	2: 49,749,327	L800P	probably damaging	Het
Krt19	T	C	11: 100,141,392	N282S	probably benign	Het
Med23	T	G	10: 24,909,920		probably null	Het
Meltf	A	G	16: 31,880,267	Q65R	probably benign	Het
Mms22l	T	C	4: 24,598,842	S1106P	probably damaging	Het
Mprip	A	G	11: 59,764,416	T733A	probably damaging	Het
Mul1	G	A	4: 138,434,769	G4S	possibly damaging	Het
Myl10	G	C	5: 136,697,971	V70L	probably benign	Het
Mylk	G	T	16: 34,922,183	V1022L	probably benign	Het
Ncald	G	T	15: 37,397,210	N75K	probably damaging	Het
Nfib	A	G	4: 82,320,494	S492P	possibly damaging	Het
Notch2	A	T	3: 98,142,988	I1860F	probably damaging	Het
Olfr1499	A	G	19: 13,814,747	I281T	probably benign	Het
Oxr1	T	C	15: 41,819,867	S298P	probably benign	Het
Pcnt	T	C	10: 76,354,248	D2818G	probably benign	Het
Pmpcb	G	A	5: 21,743,452	A244T	probably damaging	Het
Poln	A	G	5: 34,116,807		probably null	Het
Polr1a	G	A	6: 71,953,070	V914M	probably damaging	Het
Rab15	A	C	12: 76,804,441		probably null	Het
Rasgrf1	G	T	9: 89,994,694	S704I	possibly damaging	Het
Rsf1	GGCGGCGG	GGCGGCGGGCGCGGCGG	7: 97,579,927		probably benign	Het
Sart1	C	A	19: 5,388,585	G15W	probably damaging	Het
Scrib	T	C	15: 76,047,393	*1666W	probably null	Het
Setd1b	G	C	5: 123,146,559	R184P	unknown	Het
Sfxn2	A	T	19: 46,585,740	N123I	probably damaging	Het
Slc22a3	A	G	17: 12,458,496	W262R	probably damaging	Het
Slc38a10	A	G	11: 120,105,079	L1064P	probably damaging	Het
Sorcs2	A	T	5: 36,024,072	S1077R	possibly damaging	Het
Them7	G	T	2: 105,297,826	E51*	probably null	Het
Ubc	A	G	5: 125,388,069	S65P	possibly damaging	Het
Ubqln3	A	T	7: 104,141,236	M549K	possibly damaging	Het
Vmn1r222	A	G	13: 23,232,359	L228P	probably damaging	Het
Vmn2r60	A	G	7: 42,195,111	T633A	probably damaging	Het
Zfp382	T	C	7: 30,133,275	V117A	probably benign	Het
Zic1	C	T	9: 91,365,692		probably benign	Het
Zmym4	A	T	4: 126,925,616	F165I	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
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
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
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'- AGAGATCCTCGACTGTCTGC -3'
(R):5'- ACGGTCTATTTATGGTGGCCTC -3'

Sequencing Primer
(F):5'- GACTGTCTGCCCTCCCAATGAG -3'
(R):5'- ATGGTGGCCTCTACGGGATC -3'

Posted On

2019-11-26