Mutagenetix > Incidental Mutations

Incidental Mutation 'R7310:Exoc3l'

567507

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?

Probably non essential (E-score: 0.180) question?

Stock #

R7310 (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 T at 105293708 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 195 (L195Q)

Ref Sequence

ENSEMBL: ENSMUSP00000053766 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000014981] [ENSMUST00000015003] [ENSMUST00000057855] [ENSMUST00000171788] [ENSMUST00000212219] [ENSMUST00000212777] [ENSMUST00000212922]

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 damaging
Transcript: ENSMUST00000057855
AA Change: L195Q

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

SMART Domains

Protein: ENSMUSP00000053766
Gene: ENSMUSG00000043251
AA Change: L195Q

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: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810021J22Rik	A	T	11: 58,880,268	Q192L	possibly damaging	Het
3110002H16Rik	A	G	18: 12,184,915	K362E	probably benign	Het
Abat	G	A	16: 8,605,593	R250Q	probably null	Het
Abcg3	A	C	5: 104,966,766	F295C	probably benign	Het
Abl1	T	C	2: 31,800,592	S708P	possibly damaging	Het
Acap2	A	T	16: 31,108,154	Y489*	probably null	Het
Akr1c6	A	T	13: 4,436,355	M54L	probably benign	Het
Arhgap5	A	T	12: 52,542,487		probably null	Het
Asap1	A	G	15: 64,099,530		probably null	Het
Atrnl1	A	T	19: 57,642,424	N208Y	possibly damaging	Het
BC028528	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	3: 95,888,136		probably benign	Het
BC028528	ACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTC	ACTGGTTCTGTGGTCCCTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTC	3: 95,888,139		probably benign	Het
BC028528	G	GGGGTCACTGGTTCTT	3: 95,888,148		probably benign	Het
BC028528	GTTCTGTGGTCACTG	GTTCTGTGGTCACTGATTCTGTGGTCACTG	3: 95,888,173		probably benign	Het
BC049762	A	C	11: 51,254,647	W38G	probably damaging	Het
Bmi1	T	C	2: 18,684,419	S305P	probably benign	Het
Bpifc	T	A	10: 85,963,027	I431F	probably damaging	Het
C130050O18Rik	A	T	5: 139,415,238	M349L	probably benign	Het
Cacna2d1	A	T	5: 16,314,916	D428V	probably damaging	Het
Card14	A	C	11: 119,326,179	Q363P	probably null	Het
Cdca2	A	T	14: 67,713,224	L86H	probably damaging	Het
Cdh22	G	T	2: 165,112,294	S769*	probably null	Het
Cep164	T	C	9: 45,775,366	E690G	probably damaging	Het
Cluh	A	G	11: 74,669,459	H1304R	probably benign	Het
Daxx	C	A	17: 33,910,461	D5E	possibly damaging	Het
Dnah7c	A	G	1: 46,596,967	M1117V	possibly damaging	Het
Dusp27	G	A	1: 166,098,731	T1104I	possibly damaging	Het
Entpd3	T	A	9: 120,560,755		probably null	Het
Esr1	G	A	10: 4,939,259	A386T	probably damaging	Het
Etv5	G	A	16: 22,401,737	P300L	probably benign	Het
Exog	T	C	9: 119,445,003	L18P	unknown	Het
Fgfr1	T	A	8: 25,562,315	V219D	probably benign	Het
Gm28710	A	G	5: 16,870,248	Y872C	possibly damaging	Het
Gna14	A	T	19: 16,533,749	Q54L		Het
Gnb5	T	C	9: 75,314,288	L48P	probably benign	Het
Gpbp1	A	G	13: 111,453,390	I57T	probably benign	Het
Hnrnpa1	T	A	15: 103,241,457	D48E	probably damaging	Het
Hrc	T	A	7: 45,335,803	L126*	probably null	Het
Hspa8	T	G	9: 40,803,408	D333E	probably benign	Het
Igsf3	T	A	3: 101,431,579	V403D	probably benign	Het
Itga10	C	A	3: 96,648,159	A143D	probably damaging	Het
Kdr	T	A	5: 75,944,325	I1082F	probably damaging	Het
Klk11	A	T	7: 43,778,830	I242F	probably damaging	Het
Kng2	G	A	16: 22,987,772	T559I	probably benign	Het
Map1b	G	A	13: 99,433,655	P853S	unknown	Het
Mmp13	T	C	9: 7,280,880	I421T	possibly damaging	Het
Mpeg1	A	T	19: 12,462,251	T358S	probably damaging	Het
Mttp	T	C	3: 138,095,022	D759G	probably damaging	Het
Mup17	T	A	4: 61,593,692	Y115F	possibly damaging	Het
Myo1a	G	T	10: 127,705,828	A79S	probably damaging	Het
Myo9a	T	A	9: 59,871,153	N1397K	probably benign	Het
Nadk2	T	C	15: 9,103,381		probably null	Het
Ncf1	A	T	5: 134,221,761	S402T	probably benign	Het
Ndufb10	T	C	17: 24,722,214	D145G	probably damaging	Het
Nlgn2	G	A	11: 69,830,583	T163M	possibly damaging	Het
Nol4	A	T	18: 22,770,744	H172Q		Het
Nup205	T	A	6: 35,225,969	D1370E	possibly damaging	Het
Olfr1447	A	G	19: 12,901,273	F169S	probably damaging	Het
Olfr392	A	C	11: 73,814,286	N265K	probably damaging	Het
Olfr613	T	A	7: 103,552,685	I300N	probably damaging	Het
Pkd1l2	A	G	8: 117,024,034	V1746A	probably benign	Het
Plin2	T	A	4: 86,668,391	I68F	probably benign	Het
Proc	A	T	18: 32,135,899	M11K	probably benign	Het
Rif1	T	C	2: 52,105,619	V950A	probably benign	Het
Rnf208	C	A	2: 25,243,575	P94T	probably damaging	Het
Rundc3b	A	T	5: 8,521,011	Y269*	probably null	Het
Senp7	T	C	16: 56,186,082	V950A	probably benign	Het
Sipa1l1	T	C	12: 82,372,495	V649A	probably damaging	Het
Sipa1l3	G	T	7: 29,399,696	H383N	probably benign	Het
Slc12a5	G	A	2: 164,992,440	V794M	probably damaging	Het
Slc7a7	A	G	14: 54,379,025	I200T	probably damaging	Het
Spdye4b	A	C	5: 143,202,348	I199L	probably damaging	Het
Tle4	A	T	19: 14,517,791	H191Q	probably benign	Het
Tnfsf13b	C	A	8: 10,031,651	S271*	probably null	Het
Tnks2	G	A	19: 36,879,439	V855I	probably benign	Het
Trank1	T	C	9: 111,367,126	L1406S	probably damaging	Het
Trhde	T	C	10: 114,800,573	E243G	probably damaging	Het
Trim25	A	T	11: 89,015,782	N448I	probably benign	Het
Trim31	T	A	17: 36,907,302	M308K	probably benign	Het
Ugt2b36	A	T	5: 87,066,279	V502E	possibly damaging	Het
Usp10	A	C	8: 119,941,605	D215A	possibly damaging	Het
Usp33	T	G	3: 152,360,389	L102*	probably null	Het
Wdr12	A	T	1: 60,082,575	C272*	probably null	Het
Xndc1	A	C	7: 102,078,731		probably null	Het
Zkscan2	T	C	7: 123,490,053	I332V	possibly damaging	Het
Zswim5	A	T	4: 116,984,688	T822S	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
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
Z1176:Exoc3l	UTSW	8	105290794	missense	possibly damaging	0.74

Predicted Primers

PCR Primer
(F):5'- AAACGTGTCAGCAGCTCCTAG -3'
(R):5'- CTGTACCCATAGCCCAGATG -3'

Sequencing Primer
(F):5'- ACCACACGGTAGCTTGGTG -3'
(R):5'- TGAGACCTCAAGCCGTCTC -3'

Posted On

2019-06-26