Mutagenetix > Incidental Mutations

Incidental Mutation 'R7950:Arl6'

656408

Institutional Source

Beutler Lab

Gene Symbol

Arl6

Ensembl Gene

ENSMUSG00000022722

Gene Name

ADP-ribosylation factor-like 6

Synonyms

1110018H24Rik, BBS3, 2210411E14Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.361) question?

Stock #

R7950 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

59612949-59639391 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 59618731 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000113127 (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 null
Transcript: ENSMUST00000099646

SMART Domains

Protein: ENSMUSP00000097238
Gene: ENSMUSG00000022722

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

Predicted Effect

probably null
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: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (47/47)

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810043G02Rik	C	T	10: 77,979,767	T31I	probably damaging	Het
Adgrf5	G	A	17: 43,451,157	V1248M	probably damaging	Het
Alb	T	C	5: 90,472,464	S478P	probably damaging	Het
Arhgap17	A	G	7: 123,286,816	S698P	probably benign	Het
Arhgef5	A	G	6: 43,273,925	T537A	possibly damaging	Het
Atp13a4	A	T	16: 29,449,917	W540R		Het
Birc6	A	T	17: 74,593,100	D1091V	probably damaging	Het
Bnc1	A	G	7: 81,973,502	V659A	probably benign	Het
C130074G19Rik	T	C	1: 184,874,374		probably null	Het
C1ql4	T	A	15: 99,084,812	H220L	probably benign	Het
Cacna1s	A	G	1: 136,100,625	N1147S	probably benign	Het
Cc2d2a	T	C	5: 43,695,296		probably null	Het
Ccdc36	T	C	9: 108,405,671	T273A	probably benign	Het
Ccl1	T	A	11: 82,179,693	I18L	probably benign	Het
Ecel1	A	T	1: 87,148,269	Y729N	probably damaging	Het
Epha4	T	A	1: 77,507,196	I59F	probably damaging	Het
Filip1l	A	G	16: 57,569,711	K221E	probably damaging	Het
Flnc	A	G	6: 29,456,382	E2193G	possibly damaging	Het
Galnt10	C	G	11: 57,783,723	P513A	probably damaging	Het
Gm5624	A	G	14: 44,560,733	Y139H		Het
Golgb1	A	C	16: 36,915,424	I1719L	probably benign	Het
Hsf1	T	C	15: 76,498,193	S255P	probably benign	Het
Ighv2-2	T	C	12: 113,588,294	D108G	probably damaging	Het
Kbtbd3	C	T	9: 4,316,878	Q10*	probably null	Het
Kcnh2	C	T	5: 24,333,036	V110M	probably benign	Het
Magi3	A	C	3: 104,016,689	L1112W	probably damaging	Het
Malrd1	T	A	2: 16,128,068	D1933E	unknown	Het
Mki67	G	A	7: 135,699,724	R1194*	probably null	Het
Nap1l1	T	C	10: 111,492,908	Y233H	probably damaging	Het
Napsa	A	G	7: 44,585,334	I298V	probably benign	Het
Nkx6-1	A	T	5: 101,663,599	S212R	probably damaging	Het
Nlrc4	A	T	17: 74,445,615	I591N	probably damaging	Het
Olfr1468-ps1	T	C	19: 13,375,067	I35T	possibly damaging	Het
Orc2	T	C	1: 58,467,668	D503G	possibly damaging	Het
Osbp	T	A	19: 11,978,248	S343T	probably benign	Het
Pcdha6	T	G	18: 36,969,426	D557E	probably damaging	Het
Pdcd11	AGAGGAGGAGGAGGAGGAGGAGGAG	AGAGGAGGAGGAGGAGGAGGAG	19: 47,113,437		probably benign	Het
Ppdpf	A	G	2: 181,187,857	Y35C	probably benign	Het
Scrn2	T	A	11: 97,030,929	L75Q	probably damaging	Het
Scube3	G	A	17: 28,171,226	V955I	probably benign	Het
Slc1a1	T	C	19: 28,911,761	V478A	probably benign	Het
Slc4a4	A	G	5: 89,058,278		probably null	Het
Srrm2	T	C	17: 23,808,110	L96P	unknown	Het
Strn	A	T	17: 78,670,423	L175Q		Het

Other mutations in Arl6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02390:Arl6	APN	16	59621217	splice site	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
R0147:Arl6	UTSW	16	59618790	unclassified	probably benign
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
R8342:Arl6	UTSW	16	59622439	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TTTGTCCCAAACTTCAGATGTG -3'
(R):5'- TCGTAGAGTTGTATGTATGACACC -3'

Sequencing Primer
(F):5'- TGTAAACACAGAAATCTGCTA -3'
(R):5'- CACCATAAAGTGAATTTTGTGTGTGG -3'

Posted On

2020-11-06