Mutagenetix > Incidental Mutation

Incidental Mutation 'R6211:Arl6ip1'

503460

Institutional Source

Beutler Lab

Gene Symbol

Arl6ip1

Ensembl Gene

ENSMUSG00000030654

Gene Name

ADP-ribosylation factor-like 6 interacting protein 1

Synonyms

AIP-6, ARMER

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6211 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

117718113-117728848 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 117726473 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 18 (S18R)

Ref Sequence

ENSEMBL: ENSMUSP00000032888 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032888] [ENSMUST00000032891] [ENSMUST00000203154] [ENSMUST00000204005] [ENSMUST00000206491]

AlphaFold

Q9JKW0

Predicted Effect

probably benign
Transcript: ENSMUST00000032888
AA Change: S18R

PolyPhen 2 Score 0.444 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000032888
Gene: ENSMUSG00000030654
AA Change: S18R

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: ENSMUST00000032891

SMART Domains

Protein: ENSMUSP00000032891
Gene: ENSMUSG00000030655

Domain	Start	End	E-Value	Type
low complexity region	42	55	N/A	INTRINSIC
SCOP:d1gw5a_	147	621	7e-7	SMART
Pfam:SMG1	629	1240	9.8e-249	PFAM
low complexity region	1540	1551	N/A	INTRINSIC
SCOP:d1gw5a_	1680	1942	8e-3	SMART
low complexity region	2125	2141	N/A	INTRINSIC
PI3Kc	2149	2493	7.93e-50	SMART
low complexity region	2759	2770	N/A	INTRINSIC
low complexity region	3425	3442	N/A	INTRINSIC
FATC	3626	3658	8.66e-12	SMART

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
AA Change: S18R

PolyPhen 2 Score 0.082 (Sensitivity: 0.93; Specificity: 0.85)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206536

Meta Mutation Damage Score

0.0645

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 97.6%

Validation Efficiency

100% (54/54)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acin1	A	T	14: 54,881,503 (GRCm39)	W391R	probably damaging	Het
Armc3	G	A	2: 19,301,614 (GRCm39)		probably null	Het
Ccdc162	G	T	10: 41,506,141 (GRCm39)	S883*	probably null	Het
Cd300lg	A	G	11: 101,944,995 (GRCm39)	M358V	possibly damaging	Het
Cdh23	A	G	10: 60,246,600 (GRCm39)	V949A	possibly damaging	Het
Cenpo	C	T	12: 4,266,733 (GRCm39)	S126N	probably benign	Het
Chd3	A	T	11: 69,243,503 (GRCm39)	D1366E	probably damaging	Het
Chd4	A	G	6: 125,078,248 (GRCm39)	E169G	possibly damaging	Het
Clec1b	A	G	6: 129,378,440 (GRCm39)	T24A	possibly damaging	Het
Clhc1	A	G	11: 29,528,145 (GRCm39)	I558V	probably damaging	Het
Col5a2	T	A	1: 45,415,826 (GRCm39)	R1440S	probably damaging	Het
Cops3	A	G	11: 59,708,727 (GRCm39)		probably benign	Het
Cxcr4	A	G	1: 128,517,187 (GRCm39)	V158A	probably damaging	Het
Dnah7a	A	G	1: 53,458,795 (GRCm39)	M3781T	probably damaging	Het
Dnai7	C	T	6: 145,146,217 (GRCm39)	R95Q	probably damaging	Het
Elovl5	C	A	9: 77,888,784 (GRCm39)	T217K	probably damaging	Het
Fbln7	G	T	2: 128,737,260 (GRCm39)	M358I	probably damaging	Het
Fbxl13	C	T	5: 21,689,019 (GRCm39)	R763Q	possibly damaging	Het
Gabrr3	C	A	16: 59,268,471 (GRCm39)	N361K	probably benign	Het
Garre1	A	T	7: 33,938,429 (GRCm39)	H1035Q	possibly damaging	Het
Gbp7	A	G	3: 142,251,754 (GRCm39)	M534V	probably benign	Het
Hcar2	G	A	5: 124,003,017 (GRCm39)	T162I	probably benign	Het
Hdc	A	T	2: 126,435,897 (GRCm39)	L658Q	probably damaging	Het
Hivep3	A	G	4: 119,955,602 (GRCm39)	Y1306C	probably damaging	Het
Homer3	C	T	8: 70,738,174 (GRCm39)	R49C	probably damaging	Het
Hspa4	C	T	11: 53,153,766 (GRCm39)	E702K	probably benign	Het
Iqgap3	A	G	3: 87,998,822 (GRCm39)	N308D	probably benign	Het
Itga8	G	A	2: 12,198,320 (GRCm39)	T555M	probably damaging	Het
Lrfn5	G	T	12: 61,886,256 (GRCm39)	V15L	probably benign	Het
Lrrk1	T	C	7: 65,952,458 (GRCm39)	K493E	possibly damaging	Het
Lyzl6	A	G	11: 103,525,889 (GRCm39)	I77T	probably damaging	Het
Mavs	G	T	2: 131,082,311 (GRCm39)	R65L	probably damaging	Het
Mdn1	T	G	4: 32,696,269 (GRCm39)	D1217E	probably benign	Het
Or12d13	A	T	17: 37,647,599 (GRCm39)	F175I	possibly damaging	Het
Or52h1	A	T	7: 103,828,954 (GRCm39)	Y220*	probably null	Het
Or9i1	A	G	19: 13,839,938 (GRCm39)	I260M	probably benign	Het
Otof	C	A	5: 30,529,244 (GRCm39)	V1762L	probably damaging	Het
Pcdha12	T	C	18: 37,153,374 (GRCm39)	L31P	probably damaging	Het
Pxk	C	A	14: 8,163,952 (GRCm38)	P515T	probably damaging	Het
Qrich2	A	T	11: 116,344,368 (GRCm39)	D1759E	probably benign	Het
Rps6ka1	A	T	4: 133,596,617 (GRCm39)	F33Y	probably damaging	Het
Rxfp2	G	A	5: 149,967,591 (GRCm39)		probably null	Het
Slc23a4	A	T	6: 34,933,896 (GRCm39)	I202N	probably damaging	Het
Slc24a5	A	T	2: 124,930,171 (GRCm39)	I491F	probably benign	Het
Slco1a1	T	A	6: 141,854,775 (GRCm39)	K625N	probably benign	Het
Snx31	A	G	15: 36,547,030 (GRCm39)	V51A	probably damaging	Het
Sox6	G	T	7: 115,400,697 (GRCm39)	H48Q	probably damaging	Het
Tas2r109	A	T	6: 132,957,587 (GRCm39)	Y114*	probably null	Het
Tbc1d2	C	T	4: 46,629,912 (GRCm39)	G252R	probably benign	Het
Timm13	A	C	10: 80,736,314 (GRCm39)		probably null	Het
Tpsb2	G	A	17: 25,586,737 (GRCm39)	A250T	possibly damaging	Het
Trpm6	T	C	19: 18,760,492 (GRCm39)	I131T	probably damaging	Het
Vars2	A	T	17: 35,976,554 (GRCm39)		probably null	Het
Vmn2r35	T	A	7: 7,789,527 (GRCm39)	I737F	probably damaging	Het
Wdr46	C	A	17: 34,163,459 (GRCm39)	T339K	probably damaging	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
R4807:Arl6ip1	UTSW	7	117,721,122 (GRCm39)	critical splice donor site	probably benign
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'- AAGCTGCTTGCAATAAAGGC -3'
(R):5'- CCCATGGATTTTCATATTTGGTGC -3'

Sequencing Primer
(F):5'- GCTGCTTGCAATAAAGGCATTCC -3'
(R):5'- GTGCCAAAATTGCAGGTTTTC -3'

Posted On

2018-02-27