Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01919:Arl8b'

180061

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Arl8b

Ensembl Gene

ENSMUSG00000030105

Gene Name

ADP-ribosylation factor-like 8B

Synonyms

2610313E07Rik, Arl10c, 3100002J04Rik

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.561) question?

Stock #

IGL01919

Quality Score

Status

Chromosome

Chromosomal Location

108760020-108800684 bp(+) (GRCm39)

Type of Mutation

utr 3 prime

DNA Base Change (assembly)

T to C at 108798518 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000145035 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032196] [ENSMUST00000204483]

AlphaFold

Q9CQW2

Predicted Effect

probably benign
Transcript: ENSMUST00000032196

SMART Domains

Protein: ENSMUSP00000032196
Gene: ENSMUSG00000030105

Domain	Start	End	E-Value	Type
ARF	1	185	4.46e-35	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000204483

SMART Domains

Protein: ENSMUSP00000145035
Gene: ENSMUSG00000030105

Domain	Start	End	E-Value	Type
small_GTPase	2	136	3.8e-7	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a null mutation display perinatal lethality with impaired visceral yolk sac function and reduced embryo size. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700062C07Rik	A	G	18: 24,608,580 (GRCm39)		probably null	Het
Alms1	T	C	6: 85,604,986 (GRCm39)	F2212S	possibly damaging	Het
Anpep	T	C	7: 79,475,098 (GRCm39)	I155V	possibly damaging	Het
Aoc1	G	A	6: 48,885,223 (GRCm39)	V653M	probably damaging	Het
Bax	A	C	7: 45,115,552 (GRCm39)		probably null	Het
Cpne7	G	A	8: 123,852,382 (GRCm39)	E195K	probably damaging	Het
Csmd3	A	G	15: 47,539,168 (GRCm39)	I2330T	possibly damaging	Het
Dnajc16	A	G	4: 141,501,940 (GRCm39)	S297P	probably benign	Het
Farp2	A	G	1: 93,504,155 (GRCm39)	K311E	probably damaging	Het
Fhad1	A	G	4: 141,691,906 (GRCm39)	L410P	probably damaging	Het
Gm10717	C	T	9: 3,025,616 (GRCm39)	S67L	probably benign	Het
Gm10718	A	T	9: 3,025,118 (GRCm39)	Y194F	probably benign	Het
Gm12185	T	C	11: 48,798,886 (GRCm39)	T536A	possibly damaging	Het
Gm21738	G	A	14: 19,416,979 (GRCm38)	S144L	probably benign	Het
Hydin	C	T	8: 111,245,806 (GRCm39)	T2173I	possibly damaging	Het
Kpnb1	A	G	11: 97,055,556 (GRCm39)	V783A	probably benign	Het
Krt1	A	G	15: 101,754,811 (GRCm39)	V509A	unknown	Het
Lrwd1	A	T	5: 136,164,729 (GRCm39)	L26*	probably null	Het
Mal2	T	A	15: 54,451,728 (GRCm39)	W50R	probably damaging	Het
Map3k21	A	T	8: 126,668,871 (GRCm39)	E819V	probably damaging	Het
Mrgprx3-ps	T	C	7: 46,959,959 (GRCm39)	T11A	probably benign	Het
Mroh2b	T	C	15: 4,953,170 (GRCm39)	F635L	probably benign	Het
Mylip	G	A	13: 45,562,178 (GRCm39)	E327K	probably damaging	Het
Nfix	T	C	8: 85,453,103 (GRCm39)	D308G	probably damaging	Het
Or1l8	G	A	2: 36,817,824 (GRCm39)	Q101*	probably null	Het
Or7e166	G	A	9: 19,624,638 (GRCm39)	V172I	probably benign	Het
Psma6	A	G	12: 55,454,254 (GRCm39)	E26G	probably damaging	Het
Rgs16	T	A	1: 153,617,804 (GRCm39)	S105T	probably damaging	Het
Slc25a23	T	A	17: 57,354,291 (GRCm39)	N372Y	possibly damaging	Het
Slc35e2	A	G	4: 155,697,187 (GRCm39)	M234V	probably benign	Het
Tbc1d8	A	G	1: 39,431,334 (GRCm39)	V346A	probably damaging	Het
Tgfb1i1	C	T	7: 127,847,654 (GRCm39)		probably benign	Het
Triml2	A	C	8: 43,643,349 (GRCm39)	T177P	probably damaging	Het
Uba6	T	C	5: 86,267,245 (GRCm39)	T959A	probably benign	Het
Vmn2r129	C	T	4: 156,690,549 (GRCm39)		noncoding transcript	Het

Other mutations in Arl8b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03135:Arl8b	APN	6	108,795,506 (GRCm39)	missense	probably benign	0.10
R0486:Arl8b	UTSW	6	108,792,287 (GRCm39)	missense	possibly damaging	0.84
R0544:Arl8b	UTSW	6	108,760,189 (GRCm39)	start gained	probably benign
R1018:Arl8b	UTSW	6	108,795,572 (GRCm39)	missense	probably damaging	0.98
R2248:Arl8b	UTSW	6	108,760,304 (GRCm39)	missense	probably benign	0.00
R2351:Arl8b	UTSW	6	108,798,484 (GRCm39)	missense	possibly damaging	0.84
R3815:Arl8b	UTSW	6	108,790,658 (GRCm39)	missense	probably damaging	1.00
R3816:Arl8b	UTSW	6	108,790,658 (GRCm39)	missense	probably damaging	1.00
R5538:Arl8b	UTSW	6	108,760,297 (GRCm39)	missense	probably damaging	1.00
R6480:Arl8b	UTSW	6	108,792,010 (GRCm39)	missense	possibly damaging	0.79
R7147:Arl8b	UTSW	6	108,791,976 (GRCm39)	missense	probably damaging	1.00
R8394:Arl8b	UTSW	6	108,760,244 (GRCm39)	missense	possibly damaging	0.94
R8478:Arl8b	UTSW	6	108,760,285 (GRCm39)	missense	possibly damaging	0.60
R8828:Arl8b	UTSW	6	108,792,250 (GRCm39)	missense	probably benign	0.00

Posted On

2014-05-07