Mutagenetix > Incidental Mutation

Incidental Mutation 'R7171:Arl6'

558307

Institutional Source

Beutler Lab

Gene Symbol

Arl6

Ensembl Gene

ENSMUSG00000022722

Gene Name

ADP-ribosylation factor-like 6

Synonyms

BBS3, 1110018H24Rik, 2210411E14Rik

MMRRC Submission

045230-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.335) question?

Stock #

R7171 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

59433312-59459754 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 59443455 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 93 (V93A)

Ref Sequence

ENSEMBL: ENSMUSP00000023405 (fasta)

Gene Model

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

AlphaFold

O88848

Predicted Effect

possibly damaging
Transcript: ENSMUST00000023405
AA Change: V93A

PolyPhen 2 Score 0.537 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000023405
Gene: ENSMUSG00000022722
AA Change: V93A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000099646
AA Change: V93A

PolyPhen 2 Score 0.342 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000097238
Gene: ENSMUSG00000022722
AA Change: V93A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000118438
AA Change: V93A

PolyPhen 2 Score 0.342 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000113127
Gene: ENSMUSG00000022722
AA Change: V93A

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000149797
AA Change: V93A

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000123287
Gene: ENSMUSG00000022722
AA Change: V93A

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

Meta Mutation Damage Score

0.8123

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (81/81)

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930519P11Rik	T	C	2: 154,454,897 (GRCm39)	N154S	unknown	Het
Ank3	C	T	10: 69,828,311 (GRCm39)	H2327Y		Het
Ano6	A	G	15: 95,818,172 (GRCm39)	Y305C	probably damaging	Het
Apc2	A	G	10: 80,151,170 (GRCm39)	T2075A	possibly damaging	Het
Bcas3	T	C	11: 85,474,763 (GRCm39)	S790P	probably damaging	Het
Bcl9l	C	A	9: 44,416,448 (GRCm39)	H211N	probably benign	Het
Bptf	G	T	11: 107,022,233 (GRCm39)	D172E	unknown	Het
Card9	T	G	2: 26,249,496 (GRCm39)	I22L	possibly damaging	Het
Catsperg1	C	A	7: 28,884,637 (GRCm39)	G933V	probably damaging	Het
Catsperg2	T	A	7: 29,404,750 (GRCm39)	H771L	possibly damaging	Het
Ccdc66	T	C	14: 27,215,229 (GRCm39)	N281S	possibly damaging	Het
Cfap54	A	T	10: 92,612,072 (GRCm39)	L3162H	probably damaging	Het
Clca4a	A	G	3: 144,663,934 (GRCm39)	L503P	probably benign	Het
Cpn1	T	C	19: 43,962,470 (GRCm39)	N160D	probably damaging	Het
Ctsh	T	A	9: 89,949,154 (GRCm39)	I206K	probably benign	Het
Cyb561d1	G	A	3: 108,106,679 (GRCm39)	T180M	probably damaging	Het
Dapk1	A	T	13: 60,909,599 (GRCm39)	D1404V	probably damaging	Het
Dip2c	G	T	13: 9,556,684 (GRCm39)	R76L	probably benign	Het
Dnah7c	T	C	1: 46,719,898 (GRCm39)	I2783T	probably damaging	Het
E130308A19Rik	T	C	4: 59,690,333 (GRCm39)	Y56H	probably damaging	Het
Efemp2	G	T	19: 5,530,285 (GRCm39)	A310S	probably benign	Het
Enpp5	G	A	17: 44,396,155 (GRCm39)	G356S	probably damaging	Het
Faap24	G	A	7: 35,092,279 (GRCm39)	Q213*	probably null	Het
Fam181b	G	A	7: 92,729,943 (GRCm39)	G239S	possibly damaging	Het
Fancm	T	C	12: 65,148,394 (GRCm39)	W670R	probably damaging	Het
Fcgbpl1	T	A	7: 27,853,944 (GRCm39)	L1636*	probably null	Het
Fmnl1	T	C	11: 103,081,224 (GRCm39)	Y357H	probably damaging	Het
Fryl	A	T	5: 73,279,653 (GRCm39)	V215E	probably damaging	Het
Fscn2	C	A	11: 120,253,335 (GRCm39)	N267K	probably damaging	Het
Fsip2	T	A	2: 82,816,571 (GRCm39)	Y4101*	probably null	Het
Gcn1	G	A	5: 115,728,352 (GRCm39)	V738I	probably benign	Het
Gdf9	C	T	11: 53,328,366 (GRCm39)	R441C	probably damaging	Het
Gipc3	C	T	10: 81,177,455 (GRCm39)	G79E	probably damaging	Het
Gzmf	T	A	14: 56,443,391 (GRCm39)	I196L	probably benign	Het
Hectd1	A	T	12: 51,806,080 (GRCm39)	V1852E	probably damaging	Het
Hip1r	A	T	5: 124,134,007 (GRCm39)	Q256L	probably benign	Het
Hmgxb4	T	C	8: 75,746,890 (GRCm39)	S405P	probably damaging	Het
Il9r	T	A	11: 32,142,671 (GRCm39)	H294L	probably benign	Het
Kif12	G	A	4: 63,086,931 (GRCm39)	T331I	probably damaging	Het
Krtap8-1	A	T	16: 89,284,794 (GRCm39)	M1K	probably null	Het
Lamc2	A	T	1: 153,015,495 (GRCm39)	C613S	probably damaging	Het
Lgr4	T	A	2: 109,831,314 (GRCm39)	N314K	probably benign	Het
Lpcat2	T	C	8: 93,635,894 (GRCm39)	I432T	probably benign	Het
Mfhas1	T	C	8: 36,056,146 (GRCm39)	V207A	probably benign	Het
Msh3	T	G	13: 92,485,806 (GRCm39)	T173P	probably benign	Het
Mup15	T	A	4: 61,356,505 (GRCm39)	M87L	probably benign	Het
N4bp2	T	C	5: 65,965,365 (GRCm39)	V1138A	probably benign	Het
Noc2l	T	C	4: 156,326,179 (GRCm39)	V422A	probably benign	Het
Notch3	C	T	17: 32,377,936 (GRCm39)	G74D	probably damaging	Het
Ocstamp	T	A	2: 165,240,081 (GRCm39)	K35I	probably benign	Het
Or12k7	T	C	2: 36,958,400 (GRCm39)	F28L	possibly damaging	Het
Or52w1	A	G	7: 105,017,968 (GRCm39)	H145R	probably benign	Het
Or5p58	A	G	7: 107,694,342 (GRCm39)	V145A	probably benign	Het
Or9a2	T	G	6: 41,748,961 (GRCm39)	T91P	probably benign	Het
Plekhh2	T	A	17: 84,829,216 (GRCm39)	V29D	probably damaging	Het
Pof1b	A	G	X: 111,554,042 (GRCm39)	I544T	probably benign	Het
Rad54l2	C	T	9: 106,590,677 (GRCm39)	R483H	probably damaging	Het
Rapgef6	T	A	11: 54,567,189 (GRCm39)	D1128E	possibly damaging	Het
Rhbdl2	T	A	4: 123,708,049 (GRCm39)	I86N	possibly damaging	Het
Rims1	C	A	1: 22,498,740 (GRCm39)	R68L		Het
Rnf157	A	G	11: 116,253,199 (GRCm39)	F70L	possibly damaging	Het
Rtp3	C	T	9: 110,815,009 (GRCm39)	C452Y	unknown	Het
S100a14	A	T	3: 90,435,069 (GRCm39)	K27*	probably null	Het
Scai	C	T	2: 38,996,948 (GRCm39)	G282D	possibly damaging	Het
Sclt1	A	T	3: 41,672,195 (GRCm39)	I132N	probably benign	Het
Serpinf1	T	A	11: 75,308,811 (GRCm39)	Q2L	possibly damaging	Het
Skor2	T	A	18: 76,948,681 (GRCm39)	V801E	probably benign	Het
Slc16a10	C	G	10: 39,913,255 (GRCm39)	E484D	probably benign	Het
Slc1a5	T	A	7: 16,531,463 (GRCm39)	D489E	probably damaging	Het
Slx4	C	T	16: 3,808,650 (GRCm39)	R430H	probably benign	Het
Teddm1b	A	T	1: 153,750,679 (GRCm39)	I163F	probably damaging	Het
Tmem171	A	T	13: 98,828,744 (GRCm39)	C135*	probably null	Het
Tmem82	C	T	4: 141,342,284 (GRCm39)	R306H	possibly damaging	Het
Tmem94	T	A	11: 115,681,781 (GRCm39)		probably null	Het
Trpm2	A	C	10: 77,759,848 (GRCm39)	L1096R	probably damaging	Het
Trrap	T	A	5: 144,730,859 (GRCm39)	L780Q	probably damaging	Het
Txlnb	A	G	10: 17,718,732 (GRCm39)	D521G	probably benign	Het
Usp7	T	C	16: 8,534,390 (GRCm39)	D59G	probably benign	Het
Vcan	G	A	13: 89,873,710 (GRCm39)	T48I	probably damaging	Het
Vmn1r45	A	G	6: 89,910,316 (GRCm39)	L218P	probably damaging	Het
Wdr25	A	T	12: 108,990,922 (GRCm39)	T370S	probably damaging	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
R2138:Arl6	UTSW	16	59,442,830 (GRCm39)	intron	probably benign
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
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'- CATGTCCTTCTGCACCGAAAC -3'
(R):5'- ATCCCACAGCTGCATTTAGTG -3'

Sequencing Primer
(F):5'- TGCCAGTATATAAAAACAAGCTCTGC -3'
(R):5'- TCCCACAGCTGCATTTAGTGAAAAG -3'

Posted On

2019-06-26