Mutagenetix > Incidental Mutation

Incidental Mutation 'R7442:Exoc3l'

577025

Institutional Source

Beutler Lab

Gene Symbol

Exoc3l

Ensembl Gene

ENSMUSG00000043251

Gene Name

exocyst complex component 3-like

Synonyms

C730015A04Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.169) question?

Stock #

R7442 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

105289924-105296101 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 105292926 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 404 (W404R)

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 damaging
Transcript: ENSMUST00000057855
AA Change: W404R

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

SMART Domains

Protein: ENSMUSP00000053766
Gene: ENSMUSG00000043251
AA Change: W404R

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

Meta Mutation Damage Score

0.8265

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (76/76)

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700011L22Rik	A	G	8: 79,220,290	I109T	probably damaging	Het
A430033K04Rik	T	C	5: 138,647,247	S465P	possibly damaging	Het
Acap3	T	C	4: 155,905,621	F753L	probably damaging	Het
Adam9	A	T	8: 24,967,207	V635E	probably damaging	Het
Adgre4	T	A	17: 55,852,340	V675E	probably benign	Het
Anapc4	T	C	5: 52,857,201	Y469H	probably benign	Het
Ankdd1b	T	G	13: 96,424,760	K325N	possibly damaging	Het
Aox1	T	C	1: 58,082,013	V881A	probably damaging	Het
Arhgap5	A	G	12: 52,516,956	T237A	probably benign	Het
Asah1	T	C	8: 41,343,565	D331G	possibly damaging	Het
Atp5a1	G	A	18: 77,779,120	R231H	probably benign	Het
Bod1l	G	A	5: 41,807,179	P2694L	probably damaging	Het
Bst1	T	C	5: 43,821,742	S143P	probably benign	Het
Cacna1b	A	C	2: 24,607,501	S2132A	probably benign	Het
Caps2	G	T	10: 112,208,354	R486L	probably damaging	Het
Cd68	T	C	11: 69,665,928	T18A	probably benign	Het
Cdk8	T	C	5: 146,292,769		probably null	Het
Col18a1	A	T	10: 77,096,238	I127N	unknown	Het
Dsc3	T	C	18: 19,981,156	D347G	probably damaging	Het
Dusp27	T	C	1: 166,101,015	K343E	probably benign	Het
Dyrk2	T	C	10: 118,859,881	S491G	probably damaging	Het
Edem1	T	A	6: 108,851,305	Y530*	probably null	Het
Enc1	A	T	13: 97,246,740	H586L	probably benign	Het
Ephb6	T	G	6: 41,618,047		probably null	Het
Etv5	G	T	16: 22,436,059	Q48K	probably damaging	Het
Fbn1	C	A	2: 125,403,212	A252S	possibly damaging	Het
Foxe3	A	G	4: 114,925,293	S241P	unknown	Het
Gm49380	T	A	9: 44,112,412	M180L	probably benign	Het
Gm8251	A	G	1: 44,058,708	S1077P	possibly damaging	Het
Hoxd1	A	T	2: 74,763,559	D153V	probably damaging	Het
Ifi207	C	T	1: 173,727,431	S895N	probably benign	Het
Igf1r	G	A	7: 68,173,278	V385M	probably damaging	Het
Ints9	C	T	14: 64,995,064	Q191*	probably null	Het
Ktn1	A	G	14: 47,714,640	E979G	probably benign	Het
Lama3	G	A	18: 12,472,181		probably null	Het
Lrtm2	C	T	6: 119,317,431	M246I	probably damaging	Het
Mdm1	T	C	10: 118,146,685	V75A	probably benign	Het
Mia3	T	C	1: 183,358,876	E165G	probably benign	Het
Mrps21	T	C	3: 95,862,816	E67G	probably damaging	Het
Mybpc1	A	C	10: 88,526,293	I995S	probably damaging	Het
Mylk2	T	G	2: 152,911,426		probably benign	Het
Myo16	G	A	8: 10,272,537	C11Y	probably damaging	Het
Nudt18	A	C	14: 70,579,358	D134A	probably benign	Het
Obox1	G	T	7: 15,555,566	K93N	probably benign	Het
Olfr1019	A	T	2: 85,841,752	V13D	probably benign	Het
Olfr102	T	A	17: 37,313,925	H153L	possibly damaging	Het
Olfr457	A	T	6: 42,471,500	M226K	probably benign	Het
Olfr684	T	C	7: 105,157,082	Y200C	probably damaging	Het
Pkd2l1	T	C	19: 44,157,229	H185R	probably benign	Het
Ptpn18	A	G	1: 34,462,750	T48A	probably benign	Het
Ptprd	A	T	4: 76,059,821	Y583*	probably null	Het
Ptprk	G	A	10: 28,574,819	G992D	probably damaging	Het
Setdb2	A	G	14: 59,419,251	F206L	probably damaging	Het
Slain1	A	G	14: 103,685,714	D247G	probably damaging	Het
Slc10a2	A	T	8: 5,089,086	V286E	possibly damaging	Het
Slc44a2	C	T	9: 21,345,523	T367I	probably damaging	Het
Slco4a1	T	C	2: 180,474,126	V685A	probably benign	Het
Srp54c	T	A	12: 55,255,562	Y333N	probably damaging	Het
Srrm2	T	C	17: 23,820,117	S1912P	unknown	Het
St7l	A	G	3: 104,889,329	T253A	possibly damaging	Het
Sun3	T	G	11: 9,031,445	Y53S	possibly damaging	Het
Tktl2	A	G	8: 66,512,909	N373S	possibly damaging	Het
Tmco3	T	A	8: 13,320,781	S648R	probably damaging	Het
Tmem178	T	A	17: 80,944,756	V23D	probably damaging	Het
Tmem229a	C	A	6: 24,955,690	G22W	probably damaging	Het
Top3a	C	T	11: 60,753,918	S320N	possibly damaging	Het
Treml1	C	A	17: 48,366,691	D243E	probably damaging	Het
Trim42	C	T	9: 97,362,945	V601M	probably damaging	Het
Ttn	A	G	2: 76,743,006	S25848P	probably damaging	Het
Vmn1r86	A	T	7: 13,102,056	F298I	possibly damaging	Het
Vmn2r96	T	C	17: 18,573,400	F2S	probably benign	Het
Xpc	A	G	6: 91,504,649	L230P	probably damaging	Het
Xpo4	A	G	14: 57,630,223	V189A	probably benign	Het
Zfhx3	A	G	8: 108,792,836	T197A	probably damaging	Het
Zswim1	A	G	2: 164,825,790	K321E	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
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
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'- TCAGCCAGGATCTACAAGCAG -3'
(R):5'- TGATGTGTCCCAGCTAGAGC -3'

Sequencing Primer
(F):5'- CCAGGATCTACAAGCAGGGAGG -3'
(R):5'- TCTTGACCTCAGAGAACATTGAGCAG -3'

Posted On

2019-10-07