Mutagenetix > Incidental Mutation

Incidental Mutation 'R4807:Arl6ip1'

406148

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

042426-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4807 (G1)

Quality Score

217

Status

Validated

Chromosome

Chromosomal Location

117718113-117728848 bp(-) (GRCm39)

Type of Mutation

critical splice donor site

DNA Base Change (assembly)

AAAATAAATAAATAAATAAATAAATA to AAAATAAATAAATAAATAAATAAATAAATA at 117721122 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000146175 (fasta)

Gene Model

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

AlphaFold

Q9JKW0

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: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.2%

Validation Efficiency

98% (86/88)

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	C	T	7: 120,139,832 (GRCm39)	A1499V	probably damaging	Het
Agap3	T	A	5: 24,682,114 (GRCm39)	D386E	probably damaging	Het
Ahdc1	C	A	4: 132,791,624 (GRCm39)	T955K	possibly damaging	Het
Ankrd9	A	G	12: 110,943,669 (GRCm39)	Y122H	probably benign	Het
Apc2	G	T	10: 80,150,196 (GRCm39)	R1721L	probably benign	Het
Arfgef3	A	G	10: 18,522,385 (GRCm39)	V547A	probably benign	Het
Arhgap42	T	C	9: 9,046,629 (GRCm39)	N203D	possibly damaging	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
Aspm	T	A	1: 139,405,657 (GRCm39)	F1515I	probably damaging	Het
Baz1a	T	C	12: 54,945,267 (GRCm39)	T1363A	probably benign	Het
Cacng3	C	T	7: 122,353,732 (GRCm39)	A72V	probably benign	Het
Casp8ap2	T	C	4: 32,644,505 (GRCm39)	C1193R	possibly damaging	Het
Ccr3	A	G	9: 123,829,334 (GRCm39)	Y223C	probably damaging	Het
Clcn3	C	A	8: 61,387,564 (GRCm39)	L201F	probably damaging	Het
Cltc	A	C	11: 86,591,902 (GRCm39)		probably benign	Het
Cyp19a1	G	T	9: 54,083,930 (GRCm39)	T86K	possibly damaging	Het
Ddx24	A	T	12: 103,385,720 (GRCm39)	F248L	probably damaging	Het
Ddx60	G	A	8: 62,432,372 (GRCm39)	V885I	probably damaging	Het
Dync2h1	T	C	9: 7,139,422 (GRCm39)	I1404M	probably benign	Het
Emilin2	A	T	17: 71,580,443 (GRCm39)	V761E	probably damaging	Het
Endou	C	T	15: 97,629,113 (GRCm39)	C13Y	probably benign	Het
Ep400	C	A	5: 110,843,444 (GRCm39)		probably null	Het
Fbxo33	C	A	12: 59,265,998 (GRCm39)	D90Y	probably damaging	Het
Fryl	A	G	5: 73,198,705 (GRCm39)	F2641L	probably benign	Het
Gbp2b	A	G	3: 142,304,006 (GRCm39)	I34V	probably benign	Het
Ghdc	T	C	11: 100,661,051 (GRCm39)	H38R	probably damaging	Het
Gm10722	T	C	9: 3,000,937 (GRCm39)	C6R	probably benign	Het
Gpr63	A	C	4: 25,007,446 (GRCm39)	M57L	probably benign	Het
Gprc5c	A	G	11: 114,755,324 (GRCm39)	S3G	probably damaging	Het
Grk4	A	T	5: 34,909,552 (GRCm39)	M539L	probably benign	Het
Gulo	C	T	14: 66,227,833 (GRCm39)	M366I	probably benign	Het
Heatr5a	T	C	12: 51,924,303 (GRCm39)	H1970R	probably damaging	Het
Hmbox1	T	C	14: 65,062,998 (GRCm39)		probably benign	Het
Ighg2b	T	C	12: 113,267,965 (GRCm39)		probably benign	Het
Il1b	A	T	2: 129,212,226 (GRCm39)	C9S	probably benign	Het
Itpkb	A	T	1: 180,162,440 (GRCm39)		probably benign	Het
Kcnn1	T	A	8: 71,300,822 (GRCm39)	H473L	probably damaging	Het
Kidins220	C	T	12: 25,107,284 (GRCm39)	S1579L	probably damaging	Het
Kif1b	A	T	4: 149,332,378 (GRCm39)		probably benign	Het
Lyg2	A	T	1: 37,950,148 (GRCm39)	M60K	possibly damaging	Het
Mak16	G	T	8: 31,656,161 (GRCm39)	H107Q	probably benign	Het
Mapkap1	G	A	2: 34,487,434 (GRCm39)		probably null	Het
Mastl	A	G	2: 23,022,855 (GRCm39)	S623P	probably benign	Het
Mccc1	T	C	3: 36,039,195 (GRCm39)	Y46C	probably damaging	Het
Mdn1	T	G	4: 32,685,651 (GRCm39)		probably null	Het
Med25	T	A	7: 44,534,043 (GRCm39)	T31S	probably benign	Het
Mprip	G	A	11: 59,648,846 (GRCm39)	G850D	probably benign	Het
Mrpl10	T	C	11: 96,932,449 (GRCm39)	I8T	probably benign	Het
Msr1	T	C	8: 40,095,668 (GRCm39)		probably benign	Het
Myo3b	T	A	2: 69,936,056 (GRCm39)	I99N	probably damaging	Het
Neurod6	A	T	6: 55,655,640 (GRCm39)	N332K	probably damaging	Het
Npc1l1	T	C	11: 6,168,723 (GRCm39)	Y886C	probably damaging	Het
Nsmaf	T	C	4: 6,398,542 (GRCm39)		probably null	Het
Ntn4	C	T	10: 93,480,362 (GRCm39)	R29C	probably damaging	Het
Or5d47	T	A	2: 87,804,095 (GRCm39)	I305L	probably benign	Het
Plppr2	A	G	9: 21,855,810 (GRCm39)	N261S	probably damaging	Het
Prkar2a	T	A	9: 108,617,584 (GRCm39)		probably benign	Het
Pxk	G	A	14: 8,144,133 (GRCm38)	V294M	probably damaging	Het
Rars1	A	G	11: 35,699,973 (GRCm39)	F608L	possibly damaging	Het
Rasa3	A	G	8: 13,664,633 (GRCm39)	F60L	probably damaging	Het
Rbm47	C	T	5: 66,176,647 (GRCm39)	A490T	possibly damaging	Het
Sardh	T	C	2: 27,079,539 (GRCm39)	I918V	probably benign	Het
Saxo5	A	G	8: 3,529,004 (GRCm39)	K193R	possibly damaging	Het
Sdhc	T	C	1: 170,963,626 (GRCm39)	Y80C	probably damaging	Het
Selp	T	A	1: 163,971,505 (GRCm39)	M653K	probably damaging	Het
Slc6a17	T	C	3: 107,407,803 (GRCm39)	D56G	possibly damaging	Het
Slco1b2	T	C	6: 141,615,195 (GRCm39)	S367P	probably damaging	Het
Spry4	TTGAGGTCC	T	18: 38,723,328 (GRCm39)		probably null	Het
Strip2	T	A	6: 29,925,092 (GRCm39)	Y143*	probably null	Het
Sycp2	T	C	2: 178,035,754 (GRCm39)		probably benign	Het
Tex30	C	A	1: 44,126,118 (GRCm39)	V204L	possibly damaging	Het
Tln2	G	T	9: 67,239,015 (GRCm39)	T1087K	probably benign	Het
Tmeff2	A	C	1: 51,018,546 (GRCm39)	N176T	probably benign	Het
Togaram2	C	G	17: 72,004,918 (GRCm39)	T324R	probably damaging	Het
Trpc3	C	T	3: 36,688,531 (GRCm39)	R836Q	probably benign	Het
Trpm7	A	C	2: 126,673,149 (GRCm39)	L535V	probably benign	Het
Vmn1r213	G	A	13: 23,195,775 (GRCm39)	W119*	probably null	Het
Vps29	T	G	5: 122,500,951 (GRCm39)	V176G	probably damaging	Het
Vsig10l	A	G	7: 43,113,173 (GRCm39)	T144A	possibly damaging	Het
Wdr11	T	C	7: 129,229,746 (GRCm39)	Y844H	probably benign	Het
Zbp1	A	T	2: 173,053,999 (GRCm39)	M174K	probably damaging	Het
Zfp341	G	A	2: 154,487,786 (GRCm39)		probably benign	Het
Zfp638	G	A	6: 83,920,040 (GRCm39)	R546H	probably damaging	Het
Zfp820	A	T	17: 22,042,853 (GRCm39)	M1K	probably null	Het

Other mutations in Arl6ip1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1412:Arl6ip1	UTSW	7	117,719,591 (GRCm39)	missense	possibly damaging	0.96
R4155:Arl6ip1	UTSW	7	117,721,122 (GRCm39)	critical splice donor site	probably benign
R4156:Arl6ip1	UTSW	7	117,721,122 (GRCm39)	critical splice donor site	probably benign
R4157:Arl6ip1	UTSW	7	117,721,122 (GRCm39)	critical splice donor site	probably benign
R4201:Arl6ip1	UTSW	7	117,721,122 (GRCm39)	critical splice donor site	probably benign
R4206:Arl6ip1	UTSW	7	117,721,122 (GRCm39)	critical splice donor site	probably benign
R4271:Arl6ip1	UTSW	7	117,721,122 (GRCm39)	critical splice donor site	probably benign
R4276:Arl6ip1	UTSW	7	117,721,122 (GRCm39)	critical splice donor site	probably benign
R4277:Arl6ip1	UTSW	7	117,721,122 (GRCm39)	critical splice donor site	probably benign
R4278:Arl6ip1	UTSW	7	117,721,122 (GRCm39)	critical splice donor site	probably benign
R4280:Arl6ip1	UTSW	7	117,721,122 (GRCm39)	critical splice donor site	probably benign
R4281:Arl6ip1	UTSW	7	117,721,122 (GRCm39)	critical splice donor site	probably benign
R4283:Arl6ip1	UTSW	7	117,721,122 (GRCm39)	critical splice donor site	probably benign
R4330:Arl6ip1	UTSW	7	117,721,122 (GRCm39)	critical splice donor site	probably benign
R4502:Arl6ip1	UTSW	7	117,721,122 (GRCm39)	critical splice donor site	probably benign
R4503:Arl6ip1	UTSW	7	117,721,122 (GRCm39)	critical splice donor site	probably benign
R4547:Arl6ip1	UTSW	7	117,721,122 (GRCm39)	critical splice donor site	probably benign
R4548:Arl6ip1	UTSW	7	117,721,122 (GRCm39)	critical splice donor site	probably benign
R4580:Arl6ip1	UTSW	7	117,721,122 (GRCm39)	critical splice donor site	probably benign
R4604:Arl6ip1	UTSW	7	117,721,122 (GRCm39)	critical splice donor site	probably benign
R4774:Arl6ip1	UTSW	7	117,721,208 (GRCm39)	missense	probably damaging	1.00
R4804:Arl6ip1	UTSW	7	117,728,775 (GRCm39)	splice site	probably null
R4805:Arl6ip1	UTSW	7	117,721,122 (GRCm39)	critical splice donor site	probably benign
R6211:Arl6ip1	UTSW	7	117,726,473 (GRCm39)	missense	probably benign	0.44
R6651:Arl6ip1	UTSW	7	117,728,708 (GRCm39)	missense	probably benign	0.00
R7548:Arl6ip1	UTSW	7	117,725,733 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAGCTACCTTCCCAGTTAGCAC -3'
(R):5'- GGAGGTCAAGAGTCTTAGCTGTC -3'

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

Posted On

2016-08-01