Mutagenetix > Incidental Mutation

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

045820-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.248) question?

Stock #

R7764 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

106016556-106022733 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 106017333 bp (GRCm39)

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: 20,368,040 (GRCm39)	L93V	probably benign	Het
Adss2	A	C	1: 177,591,827 (GRCm39)	M452R	probably damaging	Het
Aldh3b1	T	A	19: 3,971,563 (GRCm39)	K102*	probably null	Het
Ccdc162	A	T	10: 41,566,109 (GRCm39)	V78D	possibly damaging	Het
Ccr3	T	C	9: 123,829,451 (GRCm39)	V262A	probably benign	Het
Cdk13	A	T	13: 17,895,890 (GRCm39)		probably null	Het
Cdyl	A	T	13: 36,000,126 (GRCm39)	T136S	possibly damaging	Het
Chd2	T	C	7: 73,121,567 (GRCm39)	D1015G	probably null	Het
Cntn2	C	A	1: 132,450,101 (GRCm39)	A598S	probably benign	Het
Cxxc4	G	T	3: 133,945,856 (GRCm39)	G146C	unknown	Het
Dnah2	G	A	11: 69,348,984 (GRCm39)	T2501I	probably benign	Het
Dock8	T	A	19: 25,074,899 (GRCm39)	I471N	probably benign	Het
Eaf2	A	G	16: 36,645,045 (GRCm39)	V59A	probably damaging	Het
Egflam	T	A	15: 7,347,736 (GRCm39)	I65F	probably damaging	Het
Folh1	A	T	7: 86,412,126 (GRCm39)	M215K	probably benign	Het
Fosb	T	C	7: 19,038,971 (GRCm39)	D271G	possibly damaging	Het
Frmd4b	A	G	6: 97,272,891 (GRCm39)	Y834H	probably damaging	Het
Fsip2	T	C	2: 82,811,252 (GRCm39)	S2524P	possibly damaging	Het
Gbp3	A	G	3: 142,271,024 (GRCm39)	T143A	probably benign	Het
Grk2	A	T	19: 4,337,391 (GRCm39)	L632Q	probably damaging	Het
Hars1	A	T	18: 36,903,237 (GRCm39)	D364E	probably damaging	Het
Hsd17b4	G	T	18: 50,279,482 (GRCm39)	G154*	probably null	Het
Kif5c	T	C	2: 49,617,973 (GRCm39)		probably null	Het
Kif5c	T	C	2: 49,639,339 (GRCm39)	L800P	probably damaging	Het
Krt19	T	C	11: 100,032,218 (GRCm39)	N282S	probably benign	Het
Med23	T	G	10: 24,785,818 (GRCm39)		probably null	Het
Meltf	A	G	16: 31,699,085 (GRCm39)	Q65R	probably benign	Het
Mms22l	T	C	4: 24,598,842 (GRCm39)	S1106P	probably damaging	Het
Mprip	A	G	11: 59,655,242 (GRCm39)	T733A	probably damaging	Het
Mul1	G	A	4: 138,162,080 (GRCm39)	G4S	possibly damaging	Het
Myl10	G	C	5: 136,726,825 (GRCm39)	V70L	probably benign	Het
Mylk	G	T	16: 34,742,553 (GRCm39)	V1022L	probably benign	Het
Ncald	G	T	15: 37,397,454 (GRCm39)	N75K	probably damaging	Het
Nfib	A	G	4: 82,238,731 (GRCm39)	S492P	possibly damaging	Het
Notch2	A	T	3: 98,050,304 (GRCm39)	I1860F	probably damaging	Het
Or9i14	A	G	19: 13,792,111 (GRCm39)	I281T	probably benign	Het
Oxr1	T	C	15: 41,683,263 (GRCm39)	S298P	probably benign	Het
Pcnt	T	C	10: 76,190,082 (GRCm39)	D2818G	probably benign	Het
Pmpcb	G	A	5: 21,948,450 (GRCm39)	A244T	probably damaging	Het
Poln	A	G	5: 34,274,151 (GRCm39)		probably null	Het
Polr1a	G	A	6: 71,930,054 (GRCm39)	V914M	probably damaging	Het
Rab15	A	C	12: 76,851,215 (GRCm39)		probably null	Het
Rasgrf1	G	T	9: 89,876,747 (GRCm39)	S704I	possibly damaging	Het
Rsf1	GGCGGCGG	GGCGGCGGGCGCGGCGG	7: 97,229,134 (GRCm39)		probably benign	Het
Sart1	C	A	19: 5,438,613 (GRCm39)	G15W	probably damaging	Het
Scrib	T	C	15: 75,919,242 (GRCm39)	*1666W	probably null	Het
Setd1b	G	C	5: 123,284,622 (GRCm39)	R184P	unknown	Het
Sfxn2	A	T	19: 46,574,179 (GRCm39)	N123I	probably damaging	Het
Slc22a3	A	G	17: 12,677,383 (GRCm39)	W262R	probably damaging	Het
Slc38a10	A	G	11: 119,995,905 (GRCm39)	L1064P	probably damaging	Het
Sorcs2	A	T	5: 36,181,416 (GRCm39)	S1077R	possibly damaging	Het
Them7	G	T	2: 105,128,171 (GRCm39)	E51*	probably null	Het
Ubc	A	G	5: 125,465,133 (GRCm39)	S65P	possibly damaging	Het
Ubqln3	A	T	7: 103,790,443 (GRCm39)	M549K	possibly damaging	Het
Vmn1r222	A	G	13: 23,416,529 (GRCm39)	L228P	probably damaging	Het
Vmn2r60	A	G	7: 41,844,535 (GRCm39)	T633A	probably damaging	Het
Zfp382	T	C	7: 29,832,700 (GRCm39)	V117A	probably benign	Het
Zic1	C	T	9: 91,247,745 (GRCm39)		probably benign	Het
Zmym4	A	T	4: 126,819,409 (GRCm39)	F165I	probably benign	Het

Other mutations in Exoc3l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00949:Exoc3l	APN	8	106,017,130 (GRCm39)	missense	probably benign	0.25
IGL01731:Exoc3l	APN	8	106,019,587 (GRCm39)	missense	probably benign	0.16
IGL02364:Exoc3l	APN	8	106,017,209 (GRCm39)	missense	possibly damaging	0.71
IGL02413:Exoc3l	APN	8	106,019,070 (GRCm39)	missense	probably damaging	1.00
IGL02512:Exoc3l	APN	8	106,017,115 (GRCm39)	missense	probably damaging	1.00
IGL02810:Exoc3l	APN	8	106,021,980 (GRCm39)	missense	probably damaging	1.00
R0045:Exoc3l	UTSW	8	106,020,317 (GRCm39)	missense	probably damaging	1.00
R0045:Exoc3l	UTSW	8	106,020,317 (GRCm39)	missense	probably damaging	1.00
R0183:Exoc3l	UTSW	8	106,021,932 (GRCm39)	missense	probably damaging	1.00
R0302:Exoc3l	UTSW	8	106,020,175 (GRCm39)	missense	probably benign	0.01
R1660:Exoc3l	UTSW	8	106,019,692 (GRCm39)	critical splice donor site	probably null
R1699:Exoc3l	UTSW	8	106,021,645 (GRCm39)	missense	probably benign	0.34
R1826:Exoc3l	UTSW	8	106,020,250 (GRCm39)	missense	probably damaging	0.97
R2275:Exoc3l	UTSW	8	106,017,079 (GRCm39)	critical splice donor site	probably null
R3928:Exoc3l	UTSW	8	106,017,549 (GRCm39)	unclassified	probably benign
R3938:Exoc3l	UTSW	8	106,020,037 (GRCm39)	missense	probably damaging	1.00
R4261:Exoc3l	UTSW	8	106,017,599 (GRCm39)	missense	probably damaging	0.98
R4273:Exoc3l	UTSW	8	106,016,593 (GRCm39)	makesense	probably null
R5518:Exoc3l	UTSW	8	106,019,795 (GRCm39)	missense	probably benign	0.27
R6471:Exoc3l	UTSW	8	106,017,166 (GRCm39)	missense	probably damaging	1.00
R6511:Exoc3l	UTSW	8	106,019,887 (GRCm39)	missense	probably benign	0.00
R6631:Exoc3l	UTSW	8	106,021,993 (GRCm39)	missense	probably damaging	1.00
R6694:Exoc3l	UTSW	8	106,017,122 (GRCm39)	missense	probably benign	0.15
R6843:Exoc3l	UTSW	8	106,016,729 (GRCm39)	missense	probably benign	0.00
R7310:Exoc3l	UTSW	8	106,020,340 (GRCm39)	missense	probably damaging	1.00
R7387:Exoc3l	UTSW	8	106,021,605 (GRCm39)	missense	probably damaging	1.00
R7442:Exoc3l	UTSW	8	106,019,558 (GRCm39)	missense	probably damaging	1.00
R7845:Exoc3l	UTSW	8	106,016,782 (GRCm39)	missense	probably damaging	1.00
R8748:Exoc3l	UTSW	8	106,016,777 (GRCm39)	missense	probably damaging	0.98
R8879:Exoc3l	UTSW	8	106,017,181 (GRCm39)	missense
Z1176:Exoc3l	UTSW	8	106,017,426 (GRCm39)	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