Mutagenetix > Incidental Mutation

Incidental Mutation 'R8879:Exoc3l'

676770

Institutional Source

Beutler Lab

Gene Symbol

Exoc3l

Ensembl Gene

ENSMUSG00000043251

Gene Name

exocyst complex component 3-like

Synonyms

C730015A04Rik

MMRRC Submission

068747-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.380) question?

Stock #

R8879 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

105289924-105296101 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 105290549 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 602 (M602K)

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

SMART Domains

Protein: ENSMUSP00000053766
Gene: ENSMUSG00000043251
AA Change: M602K

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

0.8371

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (69/69)

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130401M01Rik	C	T	15: 58,022,509 (GRCm38)	V326M	probably damaging	Het
Adap2	T	A	11: 80,156,959 (GRCm38)	H80Q	probably benign	Het
Ang4	T	C	14: 51,764,486 (GRCm38)	T2A	probably benign	Het
Arf2	T	C	11: 103,979,759 (GRCm38)		probably null	Het
B3gnt4	A	G	5: 123,511,148 (GRCm38)	D192G	probably damaging	Het
BC034090	T	C	1: 155,226,357 (GRCm38)	I54V	probably benign	Het
Catsper3	A	G	13: 55,804,895 (GRCm38)	T202A	probably benign	Het
Cenpe	T	A	3: 135,260,101 (GRCm38)	D2113E	probably damaging	Het
Clasp2	T	C	9: 113,773,705 (GRCm38)	V191A	probably benign	Het
Col5a1	G	T	2: 28,014,158 (GRCm38)	A1356S	unknown	Het
Cuzd1	A	G	7: 131,308,848 (GRCm38)	S573P	probably damaging	Het
Cyp1a2	C	A	9: 57,681,885 (GRCm38)	M215I	possibly damaging	Het
Dcaf17	T	A	2: 71,063,402 (GRCm38)	I122K	possibly damaging	Het
Dhcr24	A	G	4: 106,573,809 (GRCm38)	I232V	probably benign	Het
Dnah10	A	G	5: 124,818,117 (GRCm38)	E3570G	probably damaging	Het
Dnaja4	A	T	9: 54,714,704 (GRCm38)		probably benign	Het
Ehd1	A	G	19: 6,298,324 (GRCm38)	D444G	probably damaging	Het
Ehmt1	T	A	2: 24,836,476 (GRCm38)	M766L	possibly damaging	Het
Eno4	A	G	19: 58,970,722 (GRCm38)	I613M	probably benign	Het
Fam107a	C	T	14: 8,301,352 (GRCm38)		probably null	Het
Frem3	A	T	8: 80,613,148 (GRCm38)	D690V	probably damaging	Het
Gm11639	T	C	11: 104,690,955 (GRCm38)	I41T	probably benign	Het
Gm19410	A	T	8: 35,771,868 (GRCm38)	D97V	probably damaging	Het
Grik5	T	A	7: 25,023,064 (GRCm38)	D540V	possibly damaging	Het
Hint1	T	A	11: 54,869,943 (GRCm38)	D69E	probably benign	Het
Krt13	T	C	11: 100,119,385 (GRCm38)	T257A	probably benign	Het
Lpin2	T	C	17: 71,242,754 (GRCm38)	L676P	probably damaging	Het
Lrguk	A	G	6: 34,029,683 (GRCm38)	E76G	probably benign	Het
Lrrc8a	A	G	2: 30,256,298 (GRCm38)	M375V	probably benign	Het
Lrrtm3	T	C	10: 64,089,238 (GRCm38)	Q50R	possibly damaging	Het
Mmrn1	T	A	6: 60,976,529 (GRCm38)	L598Q	probably damaging	Het
Mrs2	A	G	13: 25,001,784 (GRCm38)	I135T	probably damaging	Het
Neb	T	C	2: 52,235,580 (GRCm38)	D475G		Het
Notch2	A	G	3: 98,135,599 (GRCm38)	S1427G	possibly damaging	Het
Olfr118	C	A	17: 37,672,411 (GRCm38)	Y129*	probably null	Het
Olfr682-ps1	A	G	7: 105,126,686 (GRCm38)	V195A	probably benign	Het
Olfr694	A	T	7: 106,689,089 (GRCm38)	I214N	probably damaging	Het
Olfr816	A	G	10: 129,911,862 (GRCm38)	C139R	probably damaging	Het
Olfr952	A	C	9: 39,426,219 (GRCm38)	V284G	possibly damaging	Het
Opcml	T	C	9: 28,902,151 (GRCm38)	F246S	probably damaging	Het
Pdzd2	C	A	15: 12,402,319 (GRCm38)	V729F	probably damaging	Het
Pias2	C	T	18: 77,146,768 (GRCm38)	Q565*	probably null	Het
Pnp	T	A	14: 50,950,720 (GRCm38)		probably null	Het
Ptpn18	T	C	1: 34,463,130 (GRCm38)	S76P	probably benign	Het
Qtrt2	A	T	16: 43,863,197 (GRCm38)	L304Q	probably damaging	Het
Rad51ap2	A	T	12: 11,457,400 (GRCm38)	E441V	possibly damaging	Het
Ranbp2	T	A	10: 58,477,889 (GRCm38)	V1477E	probably benign	Het
Repin1	C	T	6: 48,597,433 (GRCm38)	T432I	possibly damaging	Het
Rest	G	A	5: 77,282,511 (GRCm38)	G926R	probably benign	Het
Rnft1	T	A	11: 86,486,690 (GRCm38)	F143L	possibly damaging	Het
Sema3e	A	T	5: 14,232,094 (GRCm38)	I415L	probably benign	Het
Slc10a1	T	A	12: 80,967,595 (GRCm38)	N117I	probably damaging	Het
Slc25a23	G	A	17: 57,059,709 (GRCm38)		probably benign	Het
Slc2a2	T	C	3: 28,713,802 (GRCm38)	S160P	possibly damaging	Het
Srrd	A	G	5: 112,338,456 (GRCm38)	V178A	possibly damaging	Het
Tmigd3	G	T	3: 105,921,961 (GRCm38)	G198C	probably benign	Het
Trbv29	G	A	6: 41,271,405 (GRCm38)	M1I	probably null	Het
Tril	A	G	6: 53,819,584 (GRCm38)	S218P	probably damaging	Het
Trip11	T	C	12: 101,862,598 (GRCm38)	K1749R	probably benign	Het
Ttc25	G	T	11: 100,566,926 (GRCm38)	E452*	probably null	Het
Ttn	A	G	2: 76,830,651 (GRCm38)	V12011A		Het
Ubr4	T	G	4: 139,410,518 (GRCm38)	F1093V	probably benign	Het
Urb2	C	A	8: 124,028,403 (GRCm38)	A283E	probably benign	Het
Usp43	T	A	11: 67,898,881 (GRCm38)		probably benign	Het
Vmn1r28	A	T	6: 58,265,684 (GRCm38)	I171F	probably benign	Het
Vps33a	G	A	5: 123,533,899 (GRCm38)	R469W	probably damaging	Het
Zfp202	G	A	9: 40,211,757 (GRCm38)	R605Q	probably damaging	Het
Zpbp2	A	T	11: 98,554,620 (GRCm38)	H158L	probably benign	Het

Other mutations in Exoc3l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00949:Exoc3l	APN	8	105,290,498 (GRCm38)	missense	probably benign	0.25
IGL01731:Exoc3l	APN	8	105,292,955 (GRCm38)	missense	probably benign	0.16
IGL02364:Exoc3l	APN	8	105,290,577 (GRCm38)	missense	possibly damaging	0.71
IGL02413:Exoc3l	APN	8	105,292,438 (GRCm38)	missense	probably damaging	1.00
IGL02512:Exoc3l	APN	8	105,290,483 (GRCm38)	missense	probably damaging	1.00
IGL02810:Exoc3l	APN	8	105,295,348 (GRCm38)	missense	probably damaging	1.00
R0045:Exoc3l	UTSW	8	105,293,685 (GRCm38)	missense	probably damaging	1.00
R0045:Exoc3l	UTSW	8	105,293,685 (GRCm38)	missense	probably damaging	1.00
R0183:Exoc3l	UTSW	8	105,295,300 (GRCm38)	missense	probably damaging	1.00
R0302:Exoc3l	UTSW	8	105,293,543 (GRCm38)	missense	probably benign	0.01
R1660:Exoc3l	UTSW	8	105,293,060 (GRCm38)	critical splice donor site	probably null
R1699:Exoc3l	UTSW	8	105,295,013 (GRCm38)	missense	probably benign	0.34
R1826:Exoc3l	UTSW	8	105,293,618 (GRCm38)	missense	probably damaging	0.97
R2275:Exoc3l	UTSW	8	105,290,447 (GRCm38)	critical splice donor site	probably null
R3928:Exoc3l	UTSW	8	105,290,917 (GRCm38)	unclassified	probably benign
R3938:Exoc3l	UTSW	8	105,293,405 (GRCm38)	missense	probably damaging	1.00
R4261:Exoc3l	UTSW	8	105,290,967 (GRCm38)	missense	probably damaging	0.98
R4273:Exoc3l	UTSW	8	105,289,961 (GRCm38)	makesense	probably null
R5518:Exoc3l	UTSW	8	105,293,163 (GRCm38)	missense	probably benign	0.27
R6471:Exoc3l	UTSW	8	105,290,534 (GRCm38)	missense	probably damaging	1.00
R6511:Exoc3l	UTSW	8	105,293,255 (GRCm38)	missense	probably benign	0.00
R6631:Exoc3l	UTSW	8	105,295,361 (GRCm38)	missense	probably damaging	1.00
R6694:Exoc3l	UTSW	8	105,290,490 (GRCm38)	missense	probably benign	0.15
R6843:Exoc3l	UTSW	8	105,290,097 (GRCm38)	missense	probably benign	0.00
R7310:Exoc3l	UTSW	8	105,293,708 (GRCm38)	missense	probably damaging	1.00
R7387:Exoc3l	UTSW	8	105,294,973 (GRCm38)	missense	probably damaging	1.00
R7442:Exoc3l	UTSW	8	105,292,926 (GRCm38)	missense	probably damaging	1.00
R7764:Exoc3l	UTSW	8	105,290,701 (GRCm38)	missense	possibly damaging	0.62
R7845:Exoc3l	UTSW	8	105,290,150 (GRCm38)	missense	probably damaging	1.00
R8748:Exoc3l	UTSW	8	105,290,145 (GRCm38)	missense	probably damaging	0.98
Z1176:Exoc3l	UTSW	8	105,290,794 (GRCm38)	missense	possibly damaging	0.74

Predicted Primers

PCR Primer
(F):5'- AGGTTGAGCAGTTCCCTCAG -3'
(R):5'- CACTTCTGCCAGGACTTCTG -3'

Sequencing Primer
(F):5'- TTCCAGGCCCTGAACACATGG -3'
(R):5'- TTCTGGCGCGTACGGAAG -3'

Posted On

2021-07-15