Mutagenetix > Incidental Mutation

Incidental Mutation 'R8858:Arl6ip6'

675453

Institutional Source

Beutler Lab

Gene Symbol

Arl6ip6

Ensembl Gene

ENSMUSG00000026960

Gene Name

ADP-ribosylation factor-like 6 interacting protein 6

Synonyms

2610529A11Rik, Aip-6, 2310057C01Rik

MMRRC Submission

068738-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.090) question?

Stock #

R8858 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

53082096-53109233 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 53093018 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 181 (E181G)

Ref Sequence

ENSEMBL: ENSMUSP00000028336 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028336]

AlphaFold

Q8BH07

Predicted Effect

probably damaging
Transcript: ENSMUST00000028336
AA Change: E181G

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

SMART Domains

Protein: ENSMUSP00000028336
Gene: ENSMUSG00000026960
AA Change: E181G

Domain	Start	End	E-Value	Type
low complexity region	38	47	N/A	INTRINSIC
transmembrane domain	108	130	N/A	INTRINSIC
Pfam:ARL6IP6	138	214	3e-32	PFAM

Meta Mutation Damage Score

0.2461

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (47/47)

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A430033K04Rik	A	G	5: 138,638,338 (GRCm39)	Q91R	probably benign	Het
Abca16	G	T	7: 120,052,327 (GRCm39)	C465F	probably benign	Het
Amfr	A	G	8: 94,714,070 (GRCm39)	Y254H	probably damaging	Het
Atp10a	A	G	7: 58,465,971 (GRCm39)	E1066G	probably damaging	Het
BC034090	A	G	1: 155,101,964 (GRCm39)	V100A	probably benign	Het
Cep126	T	C	9: 8,130,270 (GRCm39)	M54V	probably benign	Het
Ciao2a	T	C	9: 66,039,824 (GRCm39)	I47T	probably damaging	Het
Csmd1	A	G	8: 16,120,318 (GRCm39)	V1829A	probably benign	Het
Cyp2c54	G	A	19: 40,062,227 (GRCm39)	T10I	probably benign	Het
Dennd11	T	C	6: 40,399,669 (GRCm39)	N173S	probably benign	Het
Disc1	A	G	8: 125,977,781 (GRCm39)	Y799C	probably damaging	Het
Dnajc17	T	C	2: 119,011,445 (GRCm39)	T162A	probably benign	Het
Fhad1	T	C	4: 141,666,339 (GRCm39)	E695G	possibly damaging	Het
Gadl1	A	T	9: 115,835,669 (GRCm39)	S366C	probably damaging	Het
Gbp11	C	A	5: 105,473,392 (GRCm39)	E454*	probably null	Het
Gm32742	T	A	9: 51,062,256 (GRCm39)	T691S	probably benign	Het
Gsdma3	C	A	11: 98,520,695 (GRCm39)	Q109K	probably benign	Het
Hsph1	A	T	5: 149,548,576 (GRCm39)	V482E	probably damaging	Het
Ighv1-23	T	A	12: 114,728,083 (GRCm39)	Y113F	probably benign	Het
Lactb	G	T	9: 66,863,182 (GRCm39)	Y477*	probably null	Het
Lgr6	T	C	1: 134,923,849 (GRCm39)		probably null	Het
Lrp1b	T	C	2: 41,560,827 (GRCm39)		probably benign	Het
Map3k4	A	C	17: 12,490,759 (GRCm39)	L224R	probably damaging	Het
Mex3d	A	T	10: 80,217,217 (GRCm39)	C667S	unknown	Het
Myh8	A	G	11: 67,192,820 (GRCm39)	E1537G	possibly damaging	Het
Myo5a	T	C	9: 75,091,965 (GRCm39)	S1205P	probably damaging	Het
Nfic	A	T	10: 81,262,965 (GRCm39)		probably benign	Het
Nrcam	T	A	12: 44,644,554 (GRCm39)		probably benign	Het
Or2aj6	A	G	16: 19,443,109 (GRCm39)	V247A	probably damaging	Het
Or4f54	G	A	2: 111,123,503 (GRCm39)	V297M	probably benign	Het
Orc2	A	T	1: 58,532,857 (GRCm39)	D127E	probably benign	Het
Ppp2r5c	T	A	12: 110,519,329 (GRCm39)		probably null	Het
Ptpn18	A	G	1: 34,502,196 (GRCm39)	T71A	possibly damaging	Het
Ptpru	T	C	4: 131,526,825 (GRCm39)		probably benign	Het
Ralgapa2	C	A	2: 146,102,285 (GRCm39)		probably null	Het
Rnase9	G	A	14: 51,276,766 (GRCm39)	P71S		Het
Ryr1	A	G	7: 28,808,638 (GRCm39)	L485P	probably benign	Het
Sardh	T	C	2: 27,118,302 (GRCm39)	D476G	probably null	Het
Sorbs3	T	C	14: 70,438,850 (GRCm39)	Y170C	probably damaging	Het
Spata31e4	T	C	13: 50,855,423 (GRCm39)	S354P	probably benign	Het
St8sia5	C	T	18: 77,320,511 (GRCm39)	P88S	probably benign	Het
Tmprss15	A	G	16: 78,854,497 (GRCm39)		probably null	Het
Tnfrsf13b	A	G	11: 61,038,363 (GRCm39)	I215M	possibly damaging	Het
Unc13d	G	T	11: 115,953,618 (GRCm39)	L1052M	probably damaging	Het
Vasn	A	G	16: 4,466,833 (GRCm39)	D260G	probably benign	Het
Wdr77	T	C	3: 105,868,978 (GRCm39)	V116A	probably damaging	Het
Zfp560	A	G	9: 20,260,403 (GRCm39)	I153T	probably benign	Het
Zfp672	G	A	11: 58,208,145 (GRCm39)	R59C	possibly damaging	Het

Other mutations in Arl6ip6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00895:Arl6ip6	APN	2	53,092,936 (GRCm39)	missense	probably damaging	1.00
IGL01391:Arl6ip6	APN	2	53,082,156 (GRCm39)	missense	probably benign	0.11
IGL02449:Arl6ip6	APN	2	53,082,538 (GRCm39)	unclassified	probably benign
IGL02553:Arl6ip6	APN	2	53,082,226 (GRCm39)	missense	possibly damaging	0.88
IGL02887:Arl6ip6	APN	2	53,092,939 (GRCm39)	missense	probably benign	0.06
R0372:Arl6ip6	UTSW	2	53,092,933 (GRCm39)	missense	probably damaging	0.99
R1604:Arl6ip6	UTSW	2	53,082,508 (GRCm39)	missense	probably damaging	1.00
R2366:Arl6ip6	UTSW	2	53,082,379 (GRCm39)	missense	probably benign	0.05
R3765:Arl6ip6	UTSW	2	53,082,243 (GRCm39)	missense	probably damaging	1.00
R7622:Arl6ip6	UTSW	2	53,107,339 (GRCm39)	missense	probably damaging	1.00
R8283:Arl6ip6	UTSW	2	53,082,250 (GRCm39)	missense	possibly damaging	0.74

Predicted Primers

PCR Primer
(F):5'- ATGATACCACCTCTAACTGTGTTC -3'
(R):5'- GCTTCAACATATCCCAGTTATGC -3'

Sequencing Primer
(F):5'- TTACGTCAGCATCTGGAC -3'
(R):5'- CAACATATCCCAGTTATGCTTCTC -3'

Posted On

2021-07-15