Mutagenetix > Incidental Mutations

Incidental Mutation 'R1826:Exoc3l'

206794

Institutional Source

Beutler Lab

Gene Symbol

Exoc3l

Ensembl Gene

ENSMUSG00000043251

Gene Name

exocyst complex component 3-like

Synonyms

C730015A04Rik

MMRRC Submission

039853-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R1826 (G1)

Quality Score

173

Status

Validated

Chromosome

Chromosomal Location

105289924-105296101 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 105293618 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 225 (I225N)

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: I225N

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000053766
Gene: ENSMUSG00000043251
AA Change: I225N

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: ENSMUST00000212037

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

probably benign
Transcript: ENSMUST00000212922

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212974

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212529

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 97.5%
3x: 96.8%
10x: 95.1%
20x: 92.0%

Validation Efficiency

95% (116/122)

Allele List at MGI

Other mutations in this stock

Total: 112 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc2	T	C	19: 43,822,014	S917P	probably benign	Het
Acsbg1	C	T	9: 54,622,556	V256M	possibly damaging	Het
Adam34	T	A	8: 43,651,342	D422V	probably damaging	Het
Adam6a	T	A	12: 113,546,122	V705E	possibly damaging	Het
Adamts12	C	A	15: 11,071,520	P50Q	probably benign	Het
Arfgap3	C	T	15: 83,303,102		probably null	Het
Aspg	T	A	12: 112,123,418	D463E	probably damaging	Het
Atad2b	G	A	12: 4,974,094	S73N	probably benign	Het
Atp11a	T	C	8: 12,846,154	L788P	probably damaging	Het
B3gnt8	T	C	7: 25,628,763	F206S	probably damaging	Het
Baz2b	T	C	2: 59,968,733	E349G	probably benign	Het
Bmp2k	A	T	5: 97,061,402		probably benign	Het
Camta2	A	G	11: 70,683,308	F128L	probably damaging	Het
Ccdc88a	A	T	11: 29,489,637	Q30L	possibly damaging	Het
Cdh1	T	C	8: 106,666,266	M794T	probably benign	Het
Cdh5	A	G	8: 104,131,091	N383S	possibly damaging	Het
Cep85l	T	C	10: 53,348,812	D227G	possibly damaging	Het
Clec4e	A	G	6: 123,283,632	S156P	probably damaging	Het
Col10a1	G	T	10: 34,394,649	G206C	probably damaging	Het
Col4a2	T	C	8: 11,313,509		probably null	Het
Copg2	A	G	6: 30,812,842	M517T	probably benign	Het
Cyp2f2	T	A	7: 27,132,562	L414Q	probably damaging	Het
Dact1	G	A	12: 71,318,344	G596D	probably damaging	Het
Dcaf13	T	C	15: 39,118,899	C87R	probably damaging	Het
Dchs1	T	G	7: 105,757,627	T2224P	probably damaging	Het
Dnah12	A	G	14: 26,711,019	M429V	probably benign	Het
Dppa2	G	A	16: 48,317,348	R231H	probably damaging	Het
Elavl4	T	C	4: 110,251,292	D78G	probably damaging	Het
Enthd1	T	C	15: 80,474,281	E346G	probably damaging	Het
Fam208b	T	A	13: 3,581,759	N914I	probably damaging	Het
Fasn	C	T	11: 120,808,499		probably benign	Het
Fbxl7	G	A	15: 26,552,765	R139C	possibly damaging	Het
Fbxw15	C	A	9: 109,559,714		probably null	Het
Flnc	A	G	6: 29,455,185	T1971A	probably damaging	Het
Fnip1	T	G	11: 54,466,164	V33G	probably damaging	Het
Foxn2	A	G	17: 88,486,805	E390G	possibly damaging	Het
Fry	C	T	5: 150,436,709	S1940L	possibly damaging	Het
Fzd3	A	T	14: 65,253,106	D9E	probably benign	Het
Gabrd	T	C	4: 155,386,486	Y255C	probably damaging	Het
Garem1	A	T	18: 21,129,452	F768L	probably benign	Het
Gas2	T	A	7: 51,943,673	L167Q	probably damaging	Het
Gm16391	A	G	17: 76,284,423		noncoding transcript	Het
Gm1979	A	T	5: 26,001,242	N113K	probably damaging	Het
Gm5751	T	A	X: 8,880,705	Y133*	probably null	Het
Gpr83	G	T	9: 14,868,333	C269F	possibly damaging	Het
Hdac4	T	A	1: 91,984,699	N352Y	probably damaging	Het
Hdac9	A	G	12: 34,429,492		probably benign	Het
Hhipl2	G	A	1: 183,436,344	S673N	probably benign	Het
Iffo2	T	A	4: 139,614,065	S417T	probably benign	Het
Itgb5	G	T	16: 33,865,560	R90L	possibly damaging	Het
Jade1	T	G	3: 41,613,213	L572W	probably damaging	Het
Kcnh1	T	A	1: 192,413,068	M478K	possibly damaging	Het
Kcnma1	C	A	14: 23,330,929	D903Y	probably damaging	Het
Kcnq4	T	A	4: 120,704,504	H456L	probably benign	Het
Kif9	C	A	9: 110,517,633	T613K	probably benign	Het
Krt36	T	G	11: 100,103,030		probably benign	Het
Kyat3	A	T	3: 142,723,179	D89V	possibly damaging	Het
Lnpep	A	T	17: 17,562,836	F568I	probably damaging	Het
Lpl	T	C	8: 68,902,291	F444L	possibly damaging	Het
Lrp1	A	T	10: 127,553,707	V3153E	probably damaging	Het
Lrrn1	A	T	6: 107,567,568	N109I	probably benign	Het
Ltn1	A	G	16: 87,415,616	Y686H	probably damaging	Het
Mcoln2	A	C	3: 146,175,472	D166A	possibly damaging	Het
Ms4a6b	A	T	19: 11,523,934	I103F	probably damaging	Het
Mtmr10	T	G	7: 64,337,466	S585A	probably benign	Het
Mx1	T	C	16: 97,455,637	N114S	possibly damaging	Het
Mysm1	A	T	4: 94,970,686	N75K	probably benign	Het
Nkx1-1	A	G	5: 33,433,933	V15A	unknown	Het
Nlrp1a	T	A	11: 71,107,980		probably benign	Het
Nlrp1a	G	A	11: 71,122,747	T559I	possibly damaging	Het
Oas1f	A	G	5: 120,855,589	K288R	probably benign	Het
Olfr1494	T	A	19: 13,749,347	D80E	probably benign	Het
Olfr311	T	A	11: 58,841,431	C106S	probably benign	Het
Olfr543	A	G	7: 102,477,513	L119P	probably damaging	Het
Pcdhb2	T	A	18: 37,295,985	V337D	probably damaging	Het
Pcdhb5	C	T	18: 37,321,469	R301*	probably null	Het
Phf12	T	C	11: 78,024,954		probably benign	Het
Pik3c2a	C	T	7: 116,368,117	D862N	probably benign	Het
Pkhd1l1	T	A	15: 44,503,345	L740I	possibly damaging	Het
Ppp1r9a	A	T	6: 5,111,060		probably benign	Het
Prg4	T	C	1: 150,452,009	D820G	probably benign	Het
Prmt9	C	T	8: 77,555,674	Q67*	probably null	Het
Prob1	T	C	18: 35,653,575	E542G	possibly damaging	Het
Pttg1	A	G	11: 43,420,366	V188A	probably damaging	Het
Rassf1	T	A	9: 107,558,193	L260H	probably damaging	Het
Rbm5	T	A	9: 107,742,414	Q766L	probably damaging	Het
Rbms3	T	A	9: 116,822,868	Y137F	probably damaging	Het
Rccd1	T	C	7: 80,320,218		probably benign	Het
Rnf182	G	A	13: 43,668,534	W187*	probably null	Het
S100a11	A	T	3: 93,526,121	I91F	probably benign	Het
Setd4	T	A	16: 93,591,299	K100*	probably null	Het
Simc1	T	A	13: 54,524,639	C267S	probably benign	Het
Slc16a1	G	T	3: 104,650,939	A91S	probably benign	Het
Slc36a1	A	G	11: 55,220,453	N133S	probably benign	Het
Svil	C	T	18: 5,063,383	P885S	probably benign	Het
Svop	A	T	5: 114,060,056		probably null	Het
Taar7d	T	C	10: 24,027,576	Y119H	probably damaging	Het
Tgfb3	T	C	12: 86,062,044	T304A	probably benign	Het
Tmem94	C	A	11: 115,793,213	C786*	probably null	Het
Tnfrsf4	T	A	4: 156,016,279		probably null	Het
Tns1	C	A	1: 73,953,634	M1I	probably null	Het
Trappc13	C	T	13: 104,169,819		probably null	Het
Trim72	T	C	7: 128,007,844	F182L	possibly damaging	Het
Ttc6	T	C	12: 57,660,247	S647P	probably benign	Het
Tulp1	A	G	17: 28,356,367	L400P	possibly damaging	Het
Vegfc	C	T	8: 54,181,312	T342M	possibly damaging	Het
Vit	T	A	17: 78,534,676	V15E	probably benign	Het
Vps13d	A	T	4: 145,155,003	M1334K	probably damaging	Het
Zfp280d	T	C	9: 72,298,780	V23A	probably damaging	Het
Zfp608	A	G	18: 54,898,576	I764T	probably benign	Het
Zfp94	T	C	7: 24,309,115	Y33C	probably damaging	Het
Zfyve26	T	A	12: 79,269,049	I1218F	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
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
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'- AACGTGTCAGCAGCTCCTAG -3'
(R):5'- TATGTGAGCCTGCGGGAACTAG -3'

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

Posted On

2014-06-23