Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01701:Arl6ip5'

104492

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Arl6ip5

Ensembl Gene

ENSMUSG00000035199

Gene Name

ADP-ribosylation factor-like 6 interacting protein 5

Synonyms

5930404D22Rik, Aip-5, Gtrap3-18, addiscin

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.110) question?

Stock #

IGL01701

Quality Score

Status

Chromosome

Chromosomal Location

97187753-97210276 bp(+) (GRCm39)

Type of Mutation

utr 5 prime

DNA Base Change (assembly)

A to G at 97187774 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000041503 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044681]

AlphaFold

Q8R5J9

Predicted Effect

probably benign
Transcript: ENSMUST00000044681

SMART Domains

Protein: ENSMUSP00000041503
Gene: ENSMUSG00000035199

Domain	Start	End	E-Value	Type
Pfam:PRA1	3	150	9.9e-42	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Expression of this gene is affected by vitamin A. The encoded protein of this gene may be associated with the cytoskeleton. A similar protein in rats may play a role in the regulation of cell differentiation. The rat protein binds and inhibits the cell membrane glutamate transporter EAAC1. The expression of the rat gene is upregulated by retinoic acid, which results in a specific reduction in EAAC1-mediated glutamate transport. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased resistance to oxidative stress hypoactivity, enhanced motor coordination and learning, and enhanced spatial working memory. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930568D16Rik	A	G	2: 35,254,776 (GRCm39)	Y36H	possibly damaging	Het
Adgrv1	T	C	13: 81,567,750 (GRCm39)	D5141G	possibly damaging	Het
Adk	G	A	14: 21,153,922 (GRCm39)	E42K	probably damaging	Het
Akap1	C	A	11: 88,735,958 (GRCm39)	V268L	probably benign	Het
Atrx	A	G	X: 104,874,526 (GRCm39)	S1945P	probably damaging	Het
Clec5a	G	A	6: 40,559,160 (GRCm39)		probably benign	Het
Cplane1	T	C	15: 8,232,741 (GRCm39)		probably benign	Het
Cul3	G	T	1: 80,255,140 (GRCm39)	H6Q	probably damaging	Het
Fn1	T	C	1: 71,669,012 (GRCm39)		probably benign	Het
Furin	C	A	7: 80,042,240 (GRCm39)	V452F	probably benign	Het
Furin	T	A	7: 80,040,507 (GRCm39)	D777V	probably benign	Het
Gm57859	T	C	11: 113,579,927 (GRCm39)	F441L	probably benign	Het
Hmgb4	G	A	4: 128,154,166 (GRCm39)	T134I	probably benign	Het
Ift74	A	T	4: 94,550,895 (GRCm39)	E349V	possibly damaging	Het
Igkv6-23	A	T	6: 70,237,880 (GRCm39)	L13Q	probably damaging	Het
Lekr1	A	T	3: 65,591,425 (GRCm39)	Y54F	probably damaging	Het
Lman1	A	T	18: 66,127,921 (GRCm39)	V241E	possibly damaging	Het
Mat1a	T	A	14: 40,836,772 (GRCm39)	D167E	probably benign	Het
Myl6	G	A	10: 128,327,966 (GRCm39)	A130V	probably damaging	Het
Myo9a	T	C	9: 59,791,877 (GRCm39)		probably null	Het
Nlrp4f	A	T	13: 65,347,223 (GRCm39)	W12R	probably damaging	Het
Nr1h4	T	C	10: 89,314,669 (GRCm39)	R276G	probably benign	Het
Or4f61	T	C	2: 111,922,851 (GRCm39)	N65S	possibly damaging	Het
Or5m13b	C	A	2: 85,754,421 (GRCm39)	Q270K	possibly damaging	Het
Pag1	C	T	3: 9,758,886 (GRCm39)	E411K	probably damaging	Het
Prorp	T	G	12: 55,355,660 (GRCm39)		probably benign	Het
Rttn	A	G	18: 89,082,339 (GRCm39)	N1422D	probably damaging	Het
Ryr1	C	T	7: 28,759,235 (GRCm39)	R3345Q	probably damaging	Het
Slc12a8	T	C	16: 33,361,280 (GRCm39)	L85P	probably damaging	Het
Slc22a17	T	C	14: 55,144,718 (GRCm39)	H565R	probably damaging	Het
Slc46a3	T	C	5: 147,823,108 (GRCm39)	T245A	probably benign	Het
Thsd7b	A	G	1: 129,358,665 (GRCm39)	H33R	probably benign	Het
Tmem131	A	G	1: 36,847,318 (GRCm39)	V1260A	probably benign	Het
Tmem30a	A	T	9: 79,681,461 (GRCm39)	F236Y	probably damaging	Het
Trim30b	A	C	7: 104,015,258 (GRCm39)	Y43*	probably null	Het
Trpc3	T	C	3: 36,725,743 (GRCm39)	K78E	possibly damaging	Het
Twist2	A	T	1: 91,729,736 (GRCm39)	M130L	probably benign	Het
Ube2q2l	T	A	6: 136,377,804 (GRCm39)	Y342F	probably damaging	Het

Other mutations in Arl6ip5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01325:Arl6ip5	APN	6	97,209,501 (GRCm39)	missense	probably benign
IGL01530:Arl6ip5	APN	6	97,187,785 (GRCm39)	missense	possibly damaging	0.83
IGL02028:Arl6ip5	APN	6	97,206,611 (GRCm39)	missense	probably damaging	1.00
IGL02724:Arl6ip5	APN	6	97,209,365 (GRCm39)	missense	probably benign	0.00
R0355:Arl6ip5	UTSW	6	97,209,378 (GRCm39)	missense	probably damaging	1.00
R2255:Arl6ip5	UTSW	6	97,209,361 (GRCm39)	missense	probably damaging	1.00
R5436:Arl6ip5	UTSW	6	97,187,887 (GRCm39)	missense	probably damaging	1.00
R9012:Arl6ip5	UTSW	6	97,187,838 (GRCm39)	missense	probably benign	0.00
R9586:Arl6ip5	UTSW	6	97,206,572 (GRCm39)	missense	possibly damaging	0.79
Z1176:Arl6ip5	UTSW	6	97,206,516 (GRCm39)	missense	probably benign	0.00

Posted On

2014-01-21