Mutagenetix > Incidental Mutation

Incidental Mutation 'R4597:Arl1'

344458

Institutional Source

Beutler Lab

Gene Symbol

Arl1

Ensembl Gene

ENSMUSG00000060904

Gene Name

ADP-ribosylation factor-like 1

Synonyms

2310008D22Rik

MMRRC Submission

041813-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.824) question?

Stock #

R4597 (G1)

Quality Score

122

Status

Validated

Chromosome

Chromosomal Location

88566720-88579956 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to T at 88566608 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000127889 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000080379] [ENSMUST00000116234] [ENSMUST00000170137]

AlphaFold

P61211

Predicted Effect

probably benign
Transcript: ENSMUST00000080379

SMART Domains

Protein: ENSMUSP00000079246
Gene: ENSMUSG00000060904

Domain	Start	End	E-Value	Type
ARF	1	138	1.23e-55	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000092231

Predicted Effect

probably benign
Transcript: ENSMUST00000116234

SMART Domains

Protein: ENSMUSP00000111942
Gene: ENSMUSG00000060904

Domain	Start	End	E-Value	Type
ARF	1	181	2.44e-91	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000168843

Predicted Effect

probably benign
Transcript: ENSMUST00000170137

SMART Domains

Protein: ENSMUSP00000127889
Gene: ENSMUSG00000060904

Domain	Start	End	E-Value	Type
Pfam:Arf	5	52	4.6e-19	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.8%

Validation Efficiency

96% (67/70)

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 ARL (ADP-ribosylation factor-like) family of proteins, which are structurally related to ADP-ribosylation factors (ARFs). ARFs, described as activators of cholera toxin (CT) ADP-ribosyltransferase activity, regulate intracellular vesicular membrane trafficking, and stimulate a phospholipase D (PLD) isoform. Although, ARL proteins were initially thought not to activate CT or PLD, later work showed that they are weak stimulators of PLD and CT in a phospholipid dependent manner. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2014]

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931422A03Rik	T	A	2: 103,856,500 (GRCm39)		probably benign	Het
Aadacl2fm3	T	A	3: 59,784,214 (GRCm39)	M229K	possibly damaging	Het
Adh5	T	C	3: 138,151,118 (GRCm39)	V27A	probably damaging	Het
Ank2	A	T	3: 126,781,800 (GRCm39)	D843E	probably damaging	Het
Aopep	T	C	13: 63,215,906 (GRCm39)	S393P	probably benign	Het
Arid2	A	G	15: 96,268,737 (GRCm39)	N950S	probably damaging	Het
Bcl3	T	G	7: 19,546,428 (GRCm39)	I136L	probably damaging	Het
Car9	T	A	4: 43,509,138 (GRCm39)	S235R	probably damaging	Het
Carnmt1	G	T	19: 18,648,451 (GRCm39)	G30W	probably damaging	Het
Casp12	C	T	9: 5,348,941 (GRCm39)	T101I	possibly damaging	Het
Cdh23	A	G	10: 60,244,823 (GRCm39)	L1026P	probably damaging	Het
Clec10a	A	T	11: 70,060,806 (GRCm39)	Y186F	probably damaging	Het
Col22a1	G	T	15: 71,836,511 (GRCm39)	A508E	possibly damaging	Het
Crocc	G	C	4: 140,747,088 (GRCm39)	S1573R	probably damaging	Het
Cttnbp2nl	G	T	3: 104,913,191 (GRCm39)	T231K	possibly damaging	Het
Drd4	T	C	7: 140,874,392 (GRCm39)	V319A	probably damaging	Het
Ehbp1l1	T	C	19: 5,767,955 (GRCm39)	E1116G	possibly damaging	Het
Fam83d	T	C	2: 158,627,142 (GRCm39)	V277A	possibly damaging	Het
Fga	G	T	3: 82,938,542 (GRCm39)	G306*	probably null	Het
Fkbp9	A	G	6: 56,809,367 (GRCm39)	Y59C	probably damaging	Het
Frmpd1	A	G	4: 45,274,441 (GRCm39)	T450A	probably benign	Het
Gabbr1	A	G	17: 37,367,791 (GRCm39)	M414V	possibly damaging	Het
Gm16506	A	G	14: 43,962,572 (GRCm39)	F112L	unknown	Het
Gm27047	T	C	6: 130,607,299 (GRCm39)		noncoding transcript	Het
Gm4353	T	A	7: 115,682,847 (GRCm39)	K245*	probably null	Het
Gm4950	A	T	18: 51,998,865 (GRCm39)	I30N	probably benign	Het
H1f5	A	T	13: 21,964,681 (GRCm39)	V15E	probably damaging	Het
H2-M10.2	T	C	17: 36,596,285 (GRCm39)	T187A	probably benign	Het
H60c	A	T	10: 3,209,968 (GRCm39)	N106K	possibly damaging	Het
Hoxa6	T	C	6: 52,185,387 (GRCm39)		probably null	Het
Ighv1-74	A	G	12: 115,766,276 (GRCm39)	C115R	probably damaging	Het
Il17a	G	A	1: 20,801,217 (GRCm39)		probably null	Het
Itga9	T	C	9: 118,672,582 (GRCm39)	Y199H	probably damaging	Het
Itpr3	C	T	17: 27,312,257 (GRCm39)	R554C	probably damaging	Het
Kcnc3	T	A	7: 44,245,240 (GRCm39)	M510K	probably damaging	Het
Kif15	A	G	9: 122,822,914 (GRCm39)	T432A	probably benign	Het
Kif26b	A	T	1: 178,744,358 (GRCm39)	S1485C	probably damaging	Het
Klhl2	C	A	8: 65,207,421 (GRCm39)	G313W	probably damaging	Het
Klhl32	C	T	4: 24,629,339 (GRCm39)	S476N	probably benign	Het
Krt1	C	T	15: 101,756,063 (GRCm39)	E386K	possibly damaging	Het
Lats1	T	C	10: 7,567,510 (GRCm39)	S94P	probably benign	Het
Ltf	G	A	9: 110,852,001 (GRCm39)	C146Y	probably damaging	Het
Mars1	A	G	10: 127,136,322 (GRCm39)	L501P	probably damaging	Het
Myh2	A	C	11: 67,080,244 (GRCm39)	I1153L	probably benign	Het
Ncstn	A	T	1: 171,895,823 (GRCm39)	Y522*	probably null	Het
Nipal4	A	G	11: 46,042,156 (GRCm39)	V175A	probably damaging	Het
Or7e169	T	C	9: 19,756,987 (GRCm39)	I309M	probably benign	Het
Pcdha1	C	G	18: 37,064,959 (GRCm39)	A541G	possibly damaging	Het
Pex11g	A	G	8: 3,514,043 (GRCm39)	Y40H	probably damaging	Het
Pira13	T	A	7: 3,825,154 (GRCm39)	Y496F	possibly damaging	Het
Qrfprl	T	C	6: 65,424,408 (GRCm39)		probably null	Het
Rin2	G	T	2: 145,702,825 (GRCm39)	R507L	probably benign	Het
Sh2b2	T	C	5: 136,260,616 (GRCm39)	D200G	probably damaging	Het
Smg7	C	A	1: 152,716,052 (GRCm39)		probably null	Het
Snx17	T	C	5: 31,355,857 (GRCm39)		probably benign	Het
Sos1	T	C	17: 80,741,255 (GRCm39)	Y510C	probably benign	Het
Spata31d1c	T	A	13: 65,183,427 (GRCm39)	L323*	probably null	Het
Supt16	C	T	14: 52,411,046 (GRCm39)	G686D	probably damaging	Het
Szt2	C	T	4: 118,229,878 (GRCm39)	R2751H	unknown	Het
Tnfsf8	A	G	4: 63,755,337 (GRCm39)	L95P	probably damaging	Het
Vmn2r17	A	G	5: 109,577,428 (GRCm39)	H493R	probably benign	Het
Zfp770	C	T	2: 114,027,251 (GRCm39)	A273T	possibly damaging	Het

Other mutations in Arl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01670:Arl1	APN	10	88,577,884 (GRCm39)	missense	probably damaging	1.00
IGL03181:Arl1	APN	10	88,578,921 (GRCm39)	utr 3 prime	probably benign
R1851:Arl1	UTSW	10	88,569,408 (GRCm39)	utr 5 prime	probably benign
R3932:Arl1	UTSW	10	88,569,398 (GRCm39)	splice site	probably benign
R4700:Arl1	UTSW	10	88,566,499 (GRCm39)	unclassified	probably benign
R5419:Arl1	UTSW	10	88,572,966 (GRCm39)	missense	probably damaging	1.00
R5875:Arl1	UTSW	10	88,577,841 (GRCm39)	missense	probably benign	0.00
R9027:Arl1	UTSW	10	88,569,458 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTCCACCAACTTGATGTACATAGG -3'
(R):5'- TTTGATCTCTGGGTGGCCAC -3'

Sequencing Primer
(F):5'- GGTTTATCACAATTGGATGCAAGCAC -3'
(R):5'- GTGGCCACCTGACCGAC -3'

Posted On

2015-09-25