Mutagenetix > Incidental Mutation

Incidental Mutation 'R7548:Arl6ip1'

584315

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

045619-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7548 (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 117725733 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 59 (I59N)

Ref Sequence

ENSEMBL: ENSMUSP00000032888 (fasta)

Gene Model

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

AlphaFold

Q9JKW0

Predicted Effect

probably damaging
Transcript: ENSMUST00000032888
AA Change: I59N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000032888
Gene: ENSMUSG00000030654
AA Change: I59N

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 null
Transcript: ENSMUST00000203154
AA Change: Y14*

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

probably benign
Transcript: ENSMUST00000206491

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

100% (71/71)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930519G04Rik	G	A	5: 115,016,059 (GRCm39)	S146N	possibly damaging	Het
Acr	T	C	15: 89,458,596 (GRCm39)	S426P	possibly damaging	Het
Atp2b4	A	T	1: 133,629,379 (GRCm39)	*81K	probably null	Het
Atp8a1	T	A	5: 67,973,071 (GRCm39)	R26*	probably null	Het
Atp8b4	T	A	2: 126,231,262 (GRCm39)	Q453L	probably benign	Het
B4galt4	A	G	16: 38,574,428 (GRCm39)	E134G	probably damaging	Het
Bcl9	G	A	3: 97,113,209 (GRCm39)	T1082I	probably damaging	Het
Catsperg2	A	G	7: 29,409,251 (GRCm39)	F617L	probably benign	Het
Ccdc15	T	C	9: 37,188,723 (GRCm39)	N800S	probably benign	Het
Cd300ld	T	C	11: 114,878,248 (GRCm39)	D88G	probably benign	Het
Ceacam2	A	T	7: 25,229,958 (GRCm39)	V216E	probably benign	Het
Cecr2	T	A	6: 120,738,675 (GRCm39)	M356K		Het
Cenpm	T	C	15: 82,128,880 (GRCm39)	M1V	probably null	Het
Ces2e	A	G	8: 105,658,538 (GRCm39)	E401G	probably benign	Het
Cib3	C	A	8: 72,961,041 (GRCm39)	L65F	probably damaging	Het
Clip4	C	G	17: 72,096,963 (GRCm39)	T29R	probably benign	Het
Cnot7	A	G	8: 40,953,874 (GRCm39)	I131T	probably damaging	Het
Cntn5	A	T	9: 9,673,415 (GRCm39)		probably null	Het
Col11a1	A	C	3: 113,917,409 (GRCm39)	H732P	unknown	Het
Coq4	A	T	2: 29,685,420 (GRCm39)	T145S	possibly damaging	Het
Cwf19l1	T	C	19: 44,098,989 (GRCm39)	D527G	probably benign	Het
Cyp3a25	T	C	5: 145,923,735 (GRCm39)	I303V	probably damaging	Het
Dab2	C	T	15: 6,459,399 (GRCm39)	T437I	possibly damaging	Het
Dlc1	A	G	8: 37,051,809 (GRCm39)	S190P	probably benign	Het
Dnah6	G	A	6: 73,004,423 (GRCm39)	L3847F	probably damaging	Het
Dnmbp	T	C	19: 43,877,838 (GRCm39)	E411G	probably benign	Het
Dpp8	T	C	9: 64,944,517 (GRCm39)	Y95H	probably damaging	Het
Emb	T	A	13: 117,408,590 (GRCm39)	D310E	possibly damaging	Het
Eml4	C	A	17: 83,732,766 (GRCm39)	Q140K	probably benign	Het
Epb41l3	T	C	17: 69,517,271 (GRCm39)	S100P	probably damaging	Het
Fat4	A	T	3: 39,035,263 (GRCm39)	T2972S	probably benign	Het
Fignl2	T	C	15: 100,951,079 (GRCm39)	E401G	unknown	Het
Fryl	T	A	5: 73,349,105 (GRCm39)	D19V	unknown	Het
Gck	C	T	11: 5,852,040 (GRCm39)	G16R		Het
Gm3371	T	C	14: 44,648,145 (GRCm39)	M1V	probably null	Het
Hlcs	T	A	16: 93,933,876 (GRCm39)	K661*	probably null	Het
Il17re	C	G	6: 113,443,348 (GRCm39)	P363A	probably damaging	Het
Kif24	C	T	4: 41,423,601 (GRCm39)	E217K	possibly damaging	Het
Klhdc7b	T	C	15: 89,272,907 (GRCm39)	I605T	probably damaging	Het
Krt31	T	C	11: 99,940,346 (GRCm39)	T170A	probably damaging	Het
Lgals3bp	T	C	11: 118,287,669 (GRCm39)	D126G	probably benign	Het
Lig1	T	A	7: 13,035,344 (GRCm39)	F601Y	possibly damaging	Het
Lrp6	A	G	6: 134,484,471 (GRCm39)	I384T	probably damaging	Het
Mfap5	A	T	6: 122,502,993 (GRCm39)	T102S	probably benign	Het
Mfsd6	A	G	1: 52,702,446 (GRCm39)	F600S	possibly damaging	Het
Nlrp4a	G	A	7: 26,149,604 (GRCm39)	E404K	probably damaging	Het
Nme3	T	C	17: 25,115,522 (GRCm39)	L12P	probably damaging	Het
Nxpe5	A	T	5: 138,249,493 (GRCm39)	T428S	probably benign	Het
Or1e26	G	A	11: 73,479,802 (GRCm39)	T254I	possibly damaging	Het
Or4c122	T	C	2: 89,079,430 (GRCm39)	T191A	probably benign	Het
Prr5	C	A	15: 84,641,259 (GRCm39)	P175Q	possibly damaging	Het
Psmc6	T	C	14: 45,572,375 (GRCm39)	Y110H	probably benign	Het
Pthlh	T	A	6: 147,158,653 (GRCm39)	R102S	possibly damaging	Het
Ric8b	G	T	10: 84,783,736 (GRCm39)	S198I	probably damaging	Het
Rrp7a	C	A	15: 83,001,871 (GRCm39)	R212S	possibly damaging	Het
Rubcnl	T	C	14: 75,279,792 (GRCm39)	Y392H	probably benign	Het
Sag	G	A	1: 87,772,638 (GRCm39)	V369I	probably benign	Het
Sar1b	A	G	11: 51,680,094 (GRCm39)	E140G	probably benign	Het
Sema3d	T	A	5: 12,627,783 (GRCm39)	M658K	unknown	Het
Skor2	C	T	18: 76,948,600 (GRCm39)	S774F	possibly damaging	Het
Slc1a6	G	T	10: 78,650,265 (GRCm39)	R501L	probably damaging	Het
Spata31d1b	A	G	13: 59,864,468 (GRCm39)	M539V	probably benign	Het
Spocd1	T	C	4: 129,823,602 (GRCm39)	L133P		Het
Sptlc1	A	T	13: 53,521,968 (GRCm39)	N96K	possibly damaging	Het
Stox1	A	T	10: 62,501,946 (GRCm39)	S205T	probably damaging	Het
Tec	T	C	5: 72,917,693 (GRCm39)	M509V	probably damaging	Het
Tmem161b	C	A	13: 84,370,537 (GRCm39)		probably benign	Het
Ttc34	T	A	4: 154,940,816 (GRCm39)	L499Q	probably damaging	Het
Uqcc1	A	G	2: 155,751,309 (GRCm39)	C120R	probably damaging	Het
Usp39	C	T	6: 72,321,996 (GRCm39)	S46N	possibly damaging	Het
Zbtb5	T	C	4: 44,994,724 (GRCm39)	E220G	probably benign	Het
Zfp287	A	T	11: 62,604,701 (GRCm39)	C735*	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
R4807: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

Predicted Primers

PCR Primer
(F):5'- AGAGCAATGACTCTAACTCCAG -3'
(R):5'- TTAACCGCTATGGCTGTGAC -3'

Sequencing Primer
(F):5'- GACAGACATCTGACGGGC -3'
(R):5'- CGCTATGGCTGTGACAACATC -3'

Posted On

2019-10-17