Mutagenetix > Incidental Mutations

Incidental Mutation 'R4276:Arl6ip1'

377779

Institutional Source

Beutler Lab

Gene Symbol

Arl6ip1

Ensembl Gene

ENSMUSG00000030654

Gene Name

ADP-ribosylation factor-like 6 interacting protein 1

Synonyms

AIP-6, ARMER

MMRRC Submission

041647-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4276 (G1)

Quality Score

217

Status

Validated

Chromosome

Chromosomal Location

118118891-118129662 bp(-) (GRCm38)

Type of Mutation

critical splice donor site

DNA Base Change (assembly)

AAAATAAATAAATAAATAAATAAATA to AAAATAAATAAATAAATAAATAAATAAATA at 118121899 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000146175 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032888] [ENSMUST00000203154] [ENSMUST00000204005] [ENSMUST00000206491]

Predicted Effect

probably benign
Transcript: ENSMUST00000032888

SMART Domains

Protein: ENSMUSP00000032888
Gene: ENSMUSG00000030654

Domain	Start	End	E-Value	Type
transmembrane domain	42	61	N/A	INTRINSIC
transmembrane domain	66	88	N/A	INTRINSIC
transmembrane domain	136	153	N/A	INTRINSIC
transmembrane domain	158	180	N/A	INTRINSIC
low complexity region	192	203	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000203154

Predicted Effect

probably benign
Transcript: ENSMUST00000204005

SMART Domains

Protein: ENSMUSP00000145418
Gene: ENSMUSG00000030654

Domain	Start	End	E-Value	Type
low complexity region	8	17	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205182

Predicted Effect

probably benign
Transcript: ENSMUST00000206491

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206536

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.6%
20x: 95.9%

Validation Efficiency

98% (46/47)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the ARL6ip family and encodes a transmembrane protein that is predominantly localized to intracytoplasmic membranes. It is highly expressed in early myeloid progenitor cells and thought to be involved in protein transport, membrane trafficking, or cell signaling during hematopoietic maturation. Mutations in this gene are associated with spastic paraplegia 61 (SPG61). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2015]

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad8	C	A	9: 26,978,449	Q316H	probably null	Het
Brix1	T	C	15: 10,481,747	D101G	possibly damaging	Het
Cfap36	A	G	11: 29,230,584		probably null	Het
Chrnb3	A	G	8: 27,393,751	N172S	probably damaging	Het
Csnk1e	T	C	15: 79,429,767	N37S	probably damaging	Het
Ern1	T	C	11: 106,407,181	I705V	probably benign	Het
Gimap8	T	C	6: 48,659,083	M594T	probably benign	Het
Gm6578	G	A	6: 12,100,188		noncoding transcript	Het
Gpc6	A	G	14: 117,435,916	D195G	probably damaging	Het
Gpcpd1	T	C	2: 132,540,287	K412E	probably damaging	Het
Insm1	C	A	2: 146,222,968	H235N	probably benign	Het
Jmjd8	A	G	17: 25,829,813		probably benign	Het
Kbtbd8	T	C	6: 95,126,933	V521A	probably damaging	Het
Kcna5	T	C	6: 126,533,366	T600A	probably damaging	Het
Kctd6	G	C	14: 8,222,806	R216P	probably damaging	Het
Lbx1	C	A	19: 45,235,089	V47L	probably benign	Het
Mefv	A	T	16: 3,715,569	N279K	probably benign	Het
Mroh1	T	G	15: 76,393,851	V24G	probably damaging	Het
Nt5c1b	A	G	12: 10,374,886	E142G	probably damaging	Het
Olfr1038-ps	G	A	2: 86,122,279	A119T	probably damaging	Het
Olfr1289	G	T	2: 111,483,504	V25L	probably damaging	Het
Padi2	A	G	4: 140,936,548	E404G	possibly damaging	Het
Pitpnb	A	G	5: 111,371,392		probably null	Het
Plxna4	T	C	6: 32,200,948	N1006S	probably benign	Het
Proc	A	G	18: 32,135,914	V6A	probably benign	Het
Prrc2c	T	A	1: 162,673,591	K1214N	probably damaging	Het
Pstpip2	A	G	18: 77,861,856	I122V	probably benign	Het
Pus10	A	G	11: 23,706,895	E207G	probably damaging	Het
Rabl2	G	A	15: 89,584,188		probably benign	Het
Rbp3	G	A	14: 33,958,650	V1070I	probably benign	Het
Rtl6	T	A	15: 84,557,196		probably benign	Het
Scn7a	T	G	2: 66,684,063	K1122N	probably damaging	Het
Spag16	A	G	1: 69,873,481		probably benign	Het
Spata13	C	T	14: 60,756,296	R396C	probably damaging	Het
Stmn4	A	T	14: 66,355,717		probably benign	Het
Syp	G	T	X: 7,638,692		probably benign	Het
Tmem260	C	T	14: 48,477,636	T249M	probably damaging	Het
Tnrc6b	A	G	15: 80,901,971	I1239V	probably benign	Het
Ubr3	C	T	2: 69,938,387	Q510*	probably null	Het
Vegfa	A	G	17: 46,031,466	V142A	probably benign	Het
Vmn2r93	T	C	17: 18,304,830	I250T	possibly damaging	Het

Other mutations in Arl6ip1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1412:Arl6ip1	UTSW	7	118120368	missense	possibly damaging	0.96
R4155:Arl6ip1	UTSW	7	118121899	critical splice donor site	probably benign
R4156:Arl6ip1	UTSW	7	118121899	critical splice donor site	probably benign
R4157:Arl6ip1	UTSW	7	118121899	critical splice donor site	probably benign
R4201:Arl6ip1	UTSW	7	118121899	critical splice donor site	probably benign
R4206:Arl6ip1	UTSW	7	118121899	critical splice donor site	probably benign
R4271:Arl6ip1	UTSW	7	118121899	critical splice donor site	probably benign
R4277:Arl6ip1	UTSW	7	118121899	critical splice donor site	probably benign
R4278:Arl6ip1	UTSW	7	118121899	critical splice donor site	probably benign
R4280:Arl6ip1	UTSW	7	118121899	critical splice donor site	probably benign
R4281:Arl6ip1	UTSW	7	118121899	critical splice donor site	probably benign
R4283:Arl6ip1	UTSW	7	118121899	critical splice donor site	probably benign
R4330:Arl6ip1	UTSW	7	118121899	critical splice donor site	probably benign
R4502:Arl6ip1	UTSW	7	118121899	critical splice donor site	probably benign
R4503:Arl6ip1	UTSW	7	118121899	critical splice donor site	probably benign
R4547:Arl6ip1	UTSW	7	118121899	critical splice donor site	probably benign
R4548:Arl6ip1	UTSW	7	118121899	critical splice donor site	probably benign
R4580:Arl6ip1	UTSW	7	118121899	critical splice donor site	probably benign
R4604:Arl6ip1	UTSW	7	118121899	critical splice donor site	probably benign
R4774:Arl6ip1	UTSW	7	118121985	missense	probably damaging	1.00
R4804:Arl6ip1	UTSW	7	118129552	splice site	probably null
R4805:Arl6ip1	UTSW	7	118121899	critical splice donor site	probably benign
R4807:Arl6ip1	UTSW	7	118121899	critical splice donor site	probably benign
R6211:Arl6ip1	UTSW	7	118127250	missense	probably benign	0.44
R6651:Arl6ip1	UTSW	7	118129485	missense	probably benign	0.00
R7548:Arl6ip1	UTSW	7	118126510	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCTACCTTCCCAGTTAGCAC -3'
(R):5'- GGAGGTCAAGAGTCTTAGCTG -3'

Sequencing Primer
(F):5'- CCAGTTAGCACTTCCCACC -3'
(R):5'- GTGGAAACGCCTCTTTTC -3'

Posted On

2016-04-06