Mutagenetix > Incidental Mutation

Incidental Mutation 'R2138:Arl6'

236004

Institutional Source

Beutler Lab

Gene Symbol

Arl6

Ensembl Gene

ENSMUSG00000022722

Gene Name

ADP-ribosylation factor-like 6

Synonyms

BBS3, 1110018H24Rik, 2210411E14Rik

MMRRC Submission

040141-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.299) question?

Stock #

R2138 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

59433312-59459754 bp(-) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

A to G at 59442830 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000113127 (fasta)

Gene Model

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

AlphaFold

O88848

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

unknown
Transcript: ENSMUST00000149797
AA Change: F131L

SMART Domains

Protein: ENSMUSP00000123287
Gene: ENSMUSG00000022722
AA Change: F131L

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: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.3%

Validation Efficiency

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aamp	A	G	1: 74,323,122 (GRCm39)	V6A	probably benign	Het
Abcc6	A	G	7: 45,630,475 (GRCm39)	F1262L	probably damaging	Het
Acot13	A	T	13: 25,002,188 (GRCm39)		probably null	Het
Adgrv1	T	C	13: 81,593,439 (GRCm39)	I4183V	probably benign	Het
Aff4	T	G	11: 53,263,339 (GRCm39)	S120A	possibly damaging	Het
Afp	A	G	5: 90,647,506 (GRCm39)	E250G	probably damaging	Het
Ankrd34b	A	T	13: 92,575,914 (GRCm39)	D382V	probably damaging	Het
Arhgef19	A	T	4: 140,978,111 (GRCm39)	I577F	probably damaging	Het
Atp2b2	A	T	6: 113,773,268 (GRCm39)	M333K	probably benign	Het
Atp8b3	C	A	10: 80,362,939 (GRCm39)	A635S	possibly damaging	Het
Baiap2	A	G	11: 119,847,928 (GRCm39)	T19A	possibly damaging	Het
Bcar3	A	G	3: 122,306,645 (GRCm39)	D206G	probably damaging	Het
Ccdc162	A	T	10: 41,457,293 (GRCm39)	M85K	probably benign	Het
Clec4a4	A	G	6: 123,000,937 (GRCm39)	N217D	probably damaging	Het
Csmd1	T	C	8: 15,979,088 (GRCm39)	Y2832C	probably damaging	Het
Cubn	A	G	2: 13,449,189 (GRCm39)	I962T	probably damaging	Het
Dennd4a	A	G	9: 64,796,619 (GRCm39)	Y852C	probably damaging	Het
Dhcr24	G	T	4: 106,429,499 (GRCm39)	E191*	probably null	Het
Dusp12	G	A	1: 170,708,166 (GRCm39)	Q114*	probably null	Het
Elfn2	G	T	15: 78,558,238 (GRCm39)	T103K	probably benign	Het
Eme1	A	T	11: 94,539,018 (GRCm39)	V314E	probably damaging	Het
Epb41l3	A	G	17: 69,514,875 (GRCm39)	E4G	probably damaging	Het
Exoc6b	A	T	6: 84,966,464 (GRCm39)	L170Q	probably damaging	Het
Fbln5	C	T	12: 101,728,179 (GRCm39)	M261I	probably benign	Het
Fgf22	T	C	10: 79,592,435 (GRCm39)	V64A	probably damaging	Het
Gak	C	T	5: 108,754,743 (GRCm39)		probably null	Het
Gatad2b	T	A	3: 90,259,420 (GRCm39)	S401R	probably damaging	Het
Gen1	A	T	12: 11,291,622 (GRCm39)	S722R	probably damaging	Het
Gm10754	A	T	10: 97,518,132 (GRCm39)		probably benign	Het
Grid2	G	A	6: 64,322,782 (GRCm39)	R594Q	probably damaging	Het
Grm7	C	A	6: 110,623,098 (GRCm39)	N90K	probably damaging	Het
Herc1	G	A	9: 66,377,589 (GRCm39)	V3452M	possibly damaging	Het
Il22ra2	T	A	10: 19,508,618 (GRCm39)	F215L	probably benign	Het
Kank1	G	A	19: 25,389,117 (GRCm39)	G930D	probably benign	Het
Klra3	A	T	6: 130,310,121 (GRCm39)	V133D	probably benign	Het
Lims2	A	G	18: 32,088,460 (GRCm39)	E220G	possibly damaging	Het
Mbd3l2	A	T	9: 18,356,254 (GRCm39)	D193V	probably damaging	Het
Mbl1	T	A	14: 40,875,648 (GRCm39)	I34K	possibly damaging	Het
Mgam	C	T	6: 40,733,384 (GRCm39)	P839S	probably damaging	Het
Mmp9	G	T	2: 164,794,387 (GRCm39)	E460*	probably null	Het
Mov10	T	C	3: 104,711,558 (GRCm39)	H316R	probably benign	Het
Ms4a18	A	T	19: 10,974,695 (GRCm39)	V332D	possibly damaging	Het
Myo15b	T	C	11: 115,774,633 (GRCm39)	S2082P	probably benign	Het
Myrfl	G	A	10: 116,631,443 (GRCm39)	T706I	probably benign	Het
Nampt	C	A	12: 32,888,421 (GRCm39)	H191N	possibly damaging	Het
Niban1	G	A	1: 151,572,002 (GRCm39)	V316M	probably damaging	Het
Nphp3	A	G	9: 103,903,102 (GRCm39)	E693G	possibly damaging	Het
Obscn	A	T	11: 58,894,491 (GRCm39)	Y1191*	probably null	Het
Or10z1	A	T	1: 174,078,302 (GRCm39)		probably null	Het
Or1r1	A	T	11: 73,875,129 (GRCm39)	Y102N	probably damaging	Het
Or7a40	A	G	16: 16,491,069 (GRCm39)	Y259H	probably damaging	Het
Osbpl10	A	G	9: 115,061,202 (GRCm39)	N760S	probably benign	Het
Otof	A	G	5: 30,619,114 (GRCm39)	V10A	probably benign	Het
Pkhd1l1	A	C	15: 44,364,853 (GRCm39)	E664A	probably damaging	Het
Pnp2	T	C	14: 51,201,161 (GRCm39)	S178P	probably damaging	Het
Pvr	G	A	7: 19,650,927 (GRCm39)	T199I	probably damaging	Het
Rbp3	C	T	14: 33,677,975 (GRCm39)	T641M	probably damaging	Het
Rnaseh2b	T	C	14: 62,598,794 (GRCm39)	V173A	probably benign	Het
Septin12	C	T	16: 4,810,070 (GRCm39)	R155H	probably damaging	Het
Slco6d1	G	T	1: 98,371,385 (GRCm39)	R290L	probably benign	Het
Snx32	A	G	19: 5,546,157 (GRCm39)	V335A	probably damaging	Het
Son	T	C	16: 91,456,260 (GRCm39)	V1669A	possibly damaging	Het
Speer1f	A	T	5: 11,469,052 (GRCm39)	R68*	probably null	Het
Tbata	C	T	10: 61,015,063 (GRCm39)	T116I	probably benign	Het
Tdrd1	T	A	19: 56,831,021 (GRCm39)	S279T	probably benign	Het
Thsd7a	A	T	6: 12,471,072 (GRCm39)	Y515*	probably null	Het
Tmem102	T	G	11: 69,695,940 (GRCm39)	L40F	probably damaging	Het
Tmem169	A	G	1: 72,340,155 (GRCm39)	N195S	probably damaging	Het
Tmem201	A	T	4: 149,802,537 (GRCm39)	S613T	probably damaging	Het
Tnfaip6	A	T	2: 51,942,344 (GRCm39)	I218F	possibly damaging	Het
Tube1	C	A	10: 39,023,347 (GRCm39)	H331Q	probably benign	Het
Wwc1	G	A	11: 35,732,714 (GRCm39)	T998I	possibly damaging	Het
Xpc	A	T	6: 91,475,104 (GRCm39)	Y638*	probably null	Het
Zdhhc4	A	T	5: 143,310,017 (GRCm39)	Y80*	probably null	Het

Other mutations in Arl6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02390:Arl6	APN	16	59,441,580 (GRCm39)	splice site	probably null
IGL02976:Arl6	APN	16	59,444,259 (GRCm39)	missense	probably damaging	1.00
shrunk	UTSW	16	59,444,257 (GRCm39)	missense	probably damaging	1.00
Slunk	UTSW	16	59,443,455 (GRCm39)	missense	possibly damaging	0.54
IGL02988:Arl6	UTSW	16	59,434,209 (GRCm39)	critical splice acceptor site	probably null
R0147:Arl6	UTSW	16	59,439,153 (GRCm39)	unclassified	probably benign
R0390:Arl6	UTSW	16	59,442,784 (GRCm39)	intron	probably benign
R2011:Arl6	UTSW	16	59,444,676 (GRCm39)	missense	probably damaging	0.97
R2997:Arl6	UTSW	16	59,444,239 (GRCm39)	critical splice donor site	probably null
R4445:Arl6	UTSW	16	59,444,676 (GRCm39)	missense	probably damaging	0.97
R4677:Arl6	UTSW	16	59,439,228 (GRCm39)	splice site	probably null
R6004:Arl6	UTSW	16	59,444,257 (GRCm39)	missense	probably damaging	1.00
R6251:Arl6	UTSW	16	59,439,169 (GRCm39)	missense	probably damaging	0.99
R7171:Arl6	UTSW	16	59,443,455 (GRCm39)	missense	possibly damaging	0.54
R7760:Arl6	UTSW	16	59,439,169 (GRCm39)	missense	probably damaging	0.99
R7768:Arl6	UTSW	16	59,452,699 (GRCm39)	missense	probably damaging	1.00
R7950:Arl6	UTSW	16	59,439,094 (GRCm39)	splice site	probably null
R8342:Arl6	UTSW	16	59,442,802 (GRCm39)	missense	unknown
R9664:Arl6	UTSW	16	59,434,199 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CACAGCAGCATCTTTACATCTTG -3'
(R):5'- AGGTTTCGGTGCAGAAGGAC -3'

Sequencing Primer
(F):5'- GAAACCAACATATTTCCAGC -3'
(R):5'- AAGGACATGAGCTCCGTTGC -3'

Posted On

2014-10-01