Mutagenetix > Incidental Mutation

Incidental Mutation 'R4774:Arl6ip1'

367765

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

042412-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4774 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

117718113-117728848 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 117721208 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 77 (R77C)

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
AA Change: R117C

PolyPhen 2 Score 0.081 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000032888
Gene: ENSMUSG00000030654
AA Change: R117C

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 damaging
Transcript: ENSMUST00000206491
AA Change: R77C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206536

Meta Mutation Damage Score

0.2939

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.9%

Validation Efficiency

98% (97/99)

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc9	T	C	6: 142,585,043 (GRCm39)	I844V	probably damaging	Het
Acnat1	T	A	4: 49,450,784 (GRCm39)	Y109F	probably benign	Het
Alox12b	T	C	11: 69,054,033 (GRCm39)	V205A	probably benign	Het
Atp8b1	A	G	18: 64,666,730 (GRCm39)	C1156R	possibly damaging	Het
Atp8b3	A	C	10: 80,372,156 (GRCm39)	N24K	probably damaging	Het
Bdh1	T	C	16: 31,273,954 (GRCm39)	V209A	possibly damaging	Het
Blm	A	T	7: 80,113,596 (GRCm39)	C1234S	probably damaging	Het
Caml	A	G	13: 55,779,740 (GRCm39)	D271G	possibly damaging	Het
Capn11	T	C	17: 45,944,006 (GRCm39)	D545G	probably benign	Het
Catspere1	T	C	1: 177,765,304 (GRCm39)		noncoding transcript	Het
Cep128	T	C	12: 91,200,969 (GRCm39)	E347G	probably damaging	Het
Cngb3	A	G	4: 19,415,713 (GRCm39)	T408A	possibly damaging	Het
Coa8	A	G	12: 111,679,823 (GRCm39)	T33A	possibly damaging	Het
Cog1	G	A	11: 113,548,253 (GRCm39)	R18Q	possibly damaging	Het
Cps1	T	C	1: 67,259,671 (GRCm39)	F1338L	probably damaging	Het
Csmd1	T	C	8: 16,059,369 (GRCm39)	H2122R	probably benign	Het
Ctu2	T	G	8: 123,207,851 (GRCm39)	S26A	probably benign	Het
Dbf4	G	A	5: 8,453,062 (GRCm39)		probably benign	Het
Ddx23	A	T	15: 98,545,116 (GRCm39)	D663E	probably benign	Het
Dpep2	T	C	8: 106,717,388 (GRCm39)	T123A	possibly damaging	Het
Eed	A	G	7: 89,613,976 (GRCm39)	I274T	probably damaging	Het
Eif3b	A	G	5: 140,405,255 (GRCm39)	D47G	probably benign	Het
Epas1	T	C	17: 87,113,186 (GRCm39)	V124A	probably damaging	Het
Fer1l6	T	C	15: 58,449,798 (GRCm39)	L668P	probably damaging	Het
Fnip2	C	A	3: 79,373,028 (GRCm39)	E1017*	probably null	Het
Gm43517	A	T	12: 49,436,690 (GRCm39)		probably benign	Het
Got1	A	G	19: 43,491,345 (GRCm39)		probably null	Het
H2-Eb2	T	A	17: 34,553,375 (GRCm39)	V187E	probably damaging	Het
H2-Q1	T	C	17: 35,540,242 (GRCm39)		probably benign	Het
Hpgd	T	C	8: 56,751,454 (GRCm39)	V94A	probably damaging	Het
Htra1	T	A	7: 130,586,756 (GRCm39)	N446K	probably benign	Het
Igkv3-4	T	A	6: 70,649,269 (GRCm39)	S89R	probably damaging	Het
Immt	C	T	6: 71,829,720 (GRCm39)	T142I	probably damaging	Het
Itpkb	C	A	1: 180,245,759 (GRCm39)	P759T	probably damaging	Het
Jmjd1c	G	A	10: 67,060,571 (GRCm39)	V688I	possibly damaging	Het
Kbtbd13	G	T	9: 65,298,025 (GRCm39)	R304S	probably benign	Het
Lama5	A	C	2: 179,827,734 (GRCm39)	L2176R	probably damaging	Het
Lrp1b	G	C	2: 40,551,544 (GRCm39)	L418V	probably null	Het
Lrrc4b	C	A	7: 44,111,796 (GRCm39)		probably null	Het
Lyst	A	G	13: 13,915,182 (GRCm39)	N3292S	probably damaging	Het
Mep1b	A	T	18: 21,219,241 (GRCm39)	I132F	probably benign	Het
Mettl2	A	G	11: 105,017,436 (GRCm39)		probably null	Het
Nherf2	T	C	17: 24,863,873 (GRCm39)	M1V	probably null	Het
Niban1	A	T	1: 151,591,445 (GRCm39)	D529V	probably damaging	Het
Nmd3	T	C	3: 69,652,569 (GRCm39)	L385S	probably benign	Het
Nol4	T	C	18: 23,045,683 (GRCm39)	E243G	probably damaging	Het
Odad1	T	A	7: 45,597,804 (GRCm39)	S571R	probably damaging	Het
Or4l1	T	A	14: 50,166,726 (GRCm39)	I92F	probably damaging	Het
Or51k1	A	G	7: 103,661,795 (GRCm39)	I38T	probably benign	Het
Or5j3	A	T	2: 86,129,042 (GRCm39)	N294I	possibly damaging	Het
Or8b52	A	G	9: 38,576,519 (GRCm39)	I207T	probably benign	Het
Pcnp	A	G	16: 55,837,522 (GRCm39)		probably benign	Het
Pla2g6	A	C	15: 79,171,818 (GRCm39)	C680G	probably damaging	Het
Plekha7	G	T	7: 115,744,178 (GRCm39)	D661E	probably damaging	Het
Prim1	A	T	10: 127,862,887 (GRCm39)		probably benign	Het
Psg29	T	A	7: 16,944,460 (GRCm39)	N323K	probably benign	Het
Ptrh2	G	A	11: 86,580,833 (GRCm39)	R150H	probably damaging	Het
Rasa1	A	G	13: 85,398,621 (GRCm39)		probably benign	Het
Rasa3	T	C	8: 13,627,501 (GRCm39)	D667G	probably benign	Het
Rnase2a	T	C	14: 51,493,201 (GRCm39)	N55D	probably damaging	Het
Rsf1	GCGGCGGCGGCGGCGGCGGC	GCGGCGGCGGCGGCGGCGGCGGCGGCGGC	7: 97,229,123 (GRCm39)		probably benign	Het
Sbp	T	A	17: 24,164,218 (GRCm39)	N133K	probably damaging	Het
Scml4	A	G	10: 42,833,743 (GRCm39)		probably benign	Het
Sema5b	T	A	16: 35,483,552 (GRCm39)	N1063K	probably damaging	Het
Serpind1	C	T	16: 17,154,272 (GRCm39)	T33M	probably benign	Het
Shroom3	G	T	5: 93,090,945 (GRCm39)	V1151F	probably damaging	Het
Slc15a2	A	T	16: 36,602,057 (GRCm39)	L80*	probably null	Het
Sorcs3	A	G	19: 48,782,602 (GRCm39)	D1039G	probably benign	Het
Spon1	A	G	7: 113,639,102 (GRCm39)	E776G	probably damaging	Het
Tdp1	C	T	12: 99,868,623 (GRCm39)	A259V	possibly damaging	Het
Tex46	C	A	4: 136,337,991 (GRCm39)	P61Q	probably benign	Het
Tnr	T	A	1: 159,724,636 (GRCm39)	L1109Q	probably damaging	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Tpra1	G	A	6: 88,887,661 (GRCm39)		probably benign	Het
Trim43c	A	T	9: 88,729,705 (GRCm39)	H383L	possibly damaging	Het
Trip6	A	G	5: 137,308,433 (GRCm39)	C439R	probably damaging	Het
Tsen2	C	T	6: 115,552,894 (GRCm39)	S398L	possibly damaging	Het
Tubgcp2	T	C	7: 139,576,074 (GRCm39)	D863G	probably damaging	Het
Ube2d2a	A	G	18: 35,903,498 (GRCm39)		probably benign	Het
Umad1	T	A	6: 8,427,181 (GRCm39)	F145I	probably damaging	Het
Unc5c	A	T	3: 141,534,278 (GRCm39)	E933V	probably damaging	Het
Vmn1r208	A	G	13: 22,956,646 (GRCm39)	F284L	probably benign	Het
Vmn2r53	T	A	7: 12,334,692 (GRCm39)	R323*	probably null	Het
Zan	G	A	5: 137,387,281 (GRCm39)	T4924I	unknown	Het
Zfp597	G	T	16: 3,683,851 (GRCm39)	Q302K	probably benign	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
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
R7548:Arl6ip1	UTSW	7	117,725,733 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGGACTAAGTATTGAACTTCATTCC -3'
(R):5'- GGGAGGTCAAGAGTCTTAGCTG -3'

Sequencing Primer
(F):5'- CTAGCAATGCTATCACTAGGCTG -3'
(R):5'- CTTTTCTAGGACCACTGAACA -3'

Posted On

2015-12-29