Mutagenetix > Incidental Mutations

Incidental Mutation 'R0147:Arl6'

60840

Institutional Source

Beutler Lab

Gene Symbol

Arl6

Ensembl Gene

ENSMUSG00000022722

Gene Name

ADP-ribosylation factor-like 6

Synonyms

1110018H24Rik, BBS3, 2210411E14Rik

MMRRC Submission

038431-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.711) question?

Stock #

R0147 (G1)

Quality Score

140

Status

Validated

Chromosome

Chromosomal Location

59612949-59639391 bp(-) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to C at 59618790 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000123287 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023405] [ENSMUST00000099646] [ENSMUST00000118438] [ENSMUST00000149797]

Predicted Effect

probably benign
Transcript: ENSMUST00000023405

SMART Domains

Protein: ENSMUSP00000023405
Gene: ENSMUSG00000022722

Domain	Start	End	E-Value	Type
ARF	1	185	1.62e-46	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000099646

SMART Domains

Protein: ENSMUSP00000097238
Gene: ENSMUSG00000022722

Domain	Start	End	E-Value	Type
ARF	1	185	7.35e-45	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000118438

SMART Domains

Protein: ENSMUSP00000113127
Gene: ENSMUSG00000022722

Domain	Start	End	E-Value	Type
ARF	1	185	7.35e-45	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000149797

SMART Domains

Protein: ENSMUSP00000123287
Gene: ENSMUSG00000022722

Domain	Start	End	E-Value	Type
Pfam:Arf	4	127	6.4e-38	PFAM
Pfam:SRPRB	15	124	5.5e-10	PFAM
Pfam:Ras	19	121	2.1e-9	PFAM
Pfam:Roc	19	124	1e-12	PFAM
Pfam:Gtr1_RagA	19	125	1.2e-7	PFAM
Pfam:MMR_HSR1	19	129	2.1e-7	PFAM

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 94.5%
20x: 86.1%

Validation Efficiency

67% (88/131)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the ARF-like (ADP ribosylation factor-like) sub-family of the ARF family of GTP-binding proteins which are involved in regulation of intracellular traffic. Mutations in this gene are associated with Bardet-Biedl syndrome (BBS). A vision-specific transcript, encoding long isoform BBS3L, has been described (PMID: 20333246). [provided by RefSeq, Apr 2016]
PHENOTYPE: Mice homozygous for a targeted allele exhibit a disorganized photoreceptor inner segment and craniofacial abnormalitries. Male mice are sterile. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110002H16Rik	C	T	18: 12,189,271	R594C	probably damaging	Het
A2m	T	C	6: 121,662,446		probably null	Het
Abtb2	A	G	2: 103,567,135	I137V	probably benign	Het
Ank1	T	A	8: 23,123,977	N1545K	probably damaging	Het
Avl9	T	A	6: 56,736,502	D248E	probably benign	Het
Becn1	T	C	11: 101,301,736	E40G	probably damaging	Het
Bod1l	G	T	5: 41,818,697	A1758E	possibly damaging	Het
Btbd16	C	T	7: 130,779,594	T19I	probably damaging	Het
Casc3	T	A	11: 98,822,499	N246K	possibly damaging	Het
Celf1	G	T	2: 91,004,690		probably benign	Het
Chrm3	G	T	13: 9,878,744	N85K	probably damaging	Het
Cluh	T	A	11: 74,665,938	Y935N	probably damaging	Het
Col1a2	G	A	6: 4,518,822		probably benign	Het
Col6a5	T	C	9: 105,925,794	D1324G	unknown	Het
Ctcfl	T	C	2: 173,118,547	D81G	possibly damaging	Het
D630003M21Rik	C	T	2: 158,203,067		probably benign	Het
Ddx39	C	T	8: 83,722,476	R298C	possibly damaging	Het
Dnmt3b	T	G	2: 153,661,457	N9K	possibly damaging	Het
Dock8	T	C	19: 25,119,459	L577P	probably benign	Het
Drc1	A	T	5: 30,281,489	N13I	possibly damaging	Het
Eml4	T	A	17: 83,421,652	N85K	probably damaging	Het
Epb41l4a	T	C	18: 33,798,800	T581A	probably damaging	Het
Epha3	T	C	16: 63,612,944	D446G	possibly damaging	Het
Fam208a	A	G	14: 27,471,768	D975G	probably benign	Het
Fam209	G	T	2: 172,473,980	G92C	probably damaging	Het
Fam98c	T	A	7: 29,152,721	R340*	probably null	Het
Fbxw10	T	G	11: 62,847,481		probably null	Het
Galr1	A	G	18: 82,405,570	L194P	probably benign	Het
Gar1	T	C	3: 129,829,473	H89R	probably damaging	Het
Gbp4	T	A	5: 105,119,496	Y519F	probably benign	Het
Gm28042	T	A	2: 120,036,463	S196T	probably benign	Het
Grid2	T	C	6: 64,533,587	Y734H	probably benign	Het
Grm6	T	A	11: 50,859,317	I466N	possibly damaging	Het
Hectd3	T	C	4: 116,997,040		probably benign	Het
Hpse2	A	C	19: 42,931,660		probably null	Het
Hspb7	T	C	4: 141,423,991	I148T	probably damaging	Het
Htr1d	C	A	4: 136,443,477	T339K	probably damaging	Het
Ip6k1	T	A	9: 108,045,894	D408E	probably damaging	Het
Irs2	A	T	8: 11,007,568	M288K	probably damaging	Het
Kansl3	A	T	1: 36,353,816	C225S	probably damaging	Het
Knop1	C	A	7: 118,845,838	R301L	probably benign	Het
Lama5	T	C	2: 180,190,406	H1714R	probably benign	Het
Mettl14	G	A	3: 123,371,394	T316I	probably damaging	Het
Mmp15	A	T	8: 95,372,317	N591Y	probably benign	Het
Mprip	T	A	11: 59,737,073	D93E	possibly damaging	Het
Mtmr14	T	A	6: 113,260,666		probably benign	Het
Muc5ac	T	C	7: 141,811,039	S1917P	probably benign	Het
Muc6	C	T	7: 141,651,990	C75Y	probably damaging	Het
Naip1	A	T	13: 100,426,910	H582Q	possibly damaging	Het
Nbeal2	G	A	9: 110,642,143	R264*	probably null	Het
Neb	T	C	2: 52,249,376	K140E	probably damaging	Het
Nfya	A	G	17: 48,398,998	V48A	possibly damaging	Het
Ngf	G	T	3: 102,509,803		probably benign	Het
Nsmce2	T	G	15: 59,378,957	S26A	probably damaging	Het
Olfr1026	T	A	2: 85,924,018	I250N	possibly damaging	Het
Olfr601	T	C	7: 103,358,406	T263A	possibly damaging	Het
Olfr873	T	G	9: 20,301,091	M297R	probably damaging	Het
Pax1	A	G	2: 147,373,734	S424G	probably benign	Het
Pcdhb19	A	T	18: 37,497,182	Q10L	probably benign	Het
Pdcl	T	C	2: 37,352,130	I203V	probably benign	Het
Pknox1	T	A	17: 31,604,790	N379K	probably benign	Het
Plxna1	C	T	6: 89,320,710	A1831T	possibly damaging	Het
Prodh	T	G	16: 18,077,813	Q360P	probably damaging	Het
Pygo2	T	C	3: 89,433,303	V299A	probably damaging	Het
Raf1	C	T	6: 115,632,973	G202S	probably benign	Het
Rgs11	T	A	17: 26,207,459		probably null	Het
Rnf13	A	G	3: 57,802,468	D144G	probably damaging	Het
Rtel1	T	C	2: 181,321,046	C31R	probably damaging	Het
Rubcnl	T	A	14: 75,042,458	I427K	probably damaging	Het
Sec23ip	C	T	7: 128,779,051		probably benign	Het
Slc25a26	T	A	6: 94,592,526		probably null	Het
Slc6a7	A	G	18: 61,002,111		probably benign	Het
Slco6b1	A	T	1: 96,987,837		noncoding transcript	Het
Spata17	A	G	1: 187,112,601	V111A	probably damaging	Het
Spata22	T	A	11: 73,331,153	M1K	probably null	Het
Svep1	C	T	4: 58,116,608	D881N	possibly damaging	Het
Sypl2	T	A	3: 108,219,095	N67I	possibly damaging	Het
Tenm3	T	C	8: 48,236,720	Y1944C	probably damaging	Het
Tm9sf4	G	T	2: 153,195,313	V365L	probably benign	Het
Tmc3	T	C	7: 83,607,742	V401A	probably damaging	Het
Trpm2	C	T	10: 77,925,825	G997D	probably damaging	Het
Unc5b	A	T	10: 60,772,297	S675T	probably damaging	Het
Vmn1r217	A	G	13: 23,113,937	M265T	probably benign	Het
Vps54	T	A	11: 21,300,259	D548E	probably benign	Het
Wdfy3	A	G	5: 101,917,411	V1297A	probably benign	Het
Wdr46	T	A	17: 33,941,023	F70I	probably benign	Het
Zdbf2	C	T	1: 63,304,006	Q515*	probably null	Het
Zfp710	T	A	7: 80,081,973	C299*	probably null	Het

Other mutations in Arl6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02390:Arl6	APN	16	59621217	unclassified	probably null
IGL02976:Arl6	APN	16	59623896	missense	probably damaging	1.00
shrunk	UTSW	16	59623894	missense	probably damaging	1.00
slunk	UTSW	16	59623092	missense	possibly damaging	0.54
IGL02988:Arl6	UTSW	16	59613846	critical splice acceptor site	probably null
R0390:Arl6	UTSW	16	59622421	intron	probably benign
R2011:Arl6	UTSW	16	59624313	missense	probably damaging	0.97
R2138:Arl6	UTSW	16	59622467	intron	probably benign
R2997:Arl6	UTSW	16	59623876	critical splice donor site	probably null
R4445:Arl6	UTSW	16	59624313	missense	probably damaging	0.97
R4677:Arl6	UTSW	16	59618865	splice site	probably null
R6004:Arl6	UTSW	16	59623894	missense	probably damaging	1.00
R6251:Arl6	UTSW	16	59618806	missense	probably damaging	0.99
R7171:Arl6	UTSW	16	59623092	missense	possibly damaging	0.54
R7760:Arl6	UTSW	16	59618806	missense	probably damaging	0.99
R7768:Arl6	UTSW	16	59632336	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGCCTAATGTTTGTCCCAAACTTCAGA -3'
(R):5'- TGCAGTTGGAGCAGTGGGTACA -3'

Sequencing Primer
(F):5'- CCCAAACTTCAGATGTGTTTTTTAGC -3'
(R):5'- CTACAAATCTCAACATTTGTCTCAGG -3'

Posted On

2013-07-24