Mutagenetix > Incidental Mutation

Incidental Mutation 'R6480:Arl8b'

517028

Institutional Source

Beutler Lab

Gene Symbol

Arl8b

Ensembl Gene

ENSMUSG00000030105

Gene Name

ADP-ribosylation factor-like 8B

Synonyms

2610313E07Rik, Arl10c, 3100002J04Rik

MMRRC Submission

044612-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.561) question?

Stock #

R6480 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

108760020-108800684 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 108792010 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 90 (N90K)

Ref Sequence

ENSEMBL: ENSMUSP00000032196 (fasta)

Gene Model

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

AlphaFold

Q9CQW2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000032196
AA Change: N90K

PolyPhen 2 Score 0.792 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000032196
Gene: ENSMUSG00000030105
AA Change: N90K

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

Predicted Effect

probably benign
Transcript: ENSMUST00000204483
AA Change: N42K

PolyPhen 2 Score 0.275 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000145035
Gene: ENSMUSG00000030105
AA Change: N42K

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

Meta Mutation Damage Score

0.4676

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.8%
20x: 93.4%

Validation Efficiency

98% (57/58)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Art3	T	C	5: 92,540,676 (GRCm39)	F140L	probably damaging	Het
Ascc3	T	A	10: 50,587,049 (GRCm39)	M967K	probably damaging	Het
Ccne1	G	A	7: 37,806,279 (GRCm39)		probably benign	Het
Cdc14b	T	C	13: 64,373,464 (GRCm39)		probably null	Het
Ceacam2	T	A	7: 25,219,414 (GRCm39)	E282V	probably damaging	Het
Clk4	T	A	11: 51,161,373 (GRCm39)	C86*	probably null	Het
Cul2	A	C	18: 3,417,561 (GRCm39)	K115T	possibly damaging	Het
Dhx29	A	T	13: 113,090,322 (GRCm39)	K800*	probably null	Het
Dlec1	T	C	9: 118,976,758 (GRCm39)	F1741S	probably benign	Het
Dnah12	A	G	14: 26,594,412 (GRCm39)	T3455A	probably damaging	Het
Dnah8	G	A	17: 30,967,542 (GRCm39)	D2585N	probably benign	Het
Drd4	A	T	7: 140,874,706 (GRCm39)	I366F	possibly damaging	Het
Fam169b	T	A	7: 68,003,466 (GRCm39)	Y273*	probably null	Het
Fbn1	T	A	2: 125,177,338 (GRCm39)	Y1833F	probably benign	Het
Fsip2	A	G	2: 82,820,430 (GRCm39)	T5388A	possibly damaging	Het
Gjb6	T	C	14: 57,361,899 (GRCm39)	I121V	probably benign	Het
Glg1	T	C	8: 111,924,338 (GRCm39)	T217A	possibly damaging	Het
Igkv5-48	A	G	6: 69,703,810 (GRCm39)	S32P	probably benign	Het
Itgax	C	A	7: 127,747,771 (GRCm39)	F1062L	probably benign	Het
Lct	G	A	1: 128,222,057 (GRCm39)	T1494I	probably damaging	Het
Lilra6	G	A	7: 3,915,932 (GRCm39)	T309I	probably damaging	Het
Mical3	T	C	6: 121,011,236 (GRCm39)	T321A	possibly damaging	Het
Mmp23	T	A	4: 155,736,798 (GRCm39)	N104I	probably damaging	Het
Muc17	T	C	5: 137,171,238 (GRCm39)	Y131C		Het
Naip2	A	C	13: 100,298,549 (GRCm39)	S496A	probably benign	Het
Ndufs2	A	G	1: 171,064,267 (GRCm39)	S348P	probably damaging	Het
Nepro	T	C	16: 44,547,438 (GRCm39)	S52P	probably damaging	Het
Nlrp6	A	G	7: 140,507,356 (GRCm39)	E874G	possibly damaging	Het
Nsmce1	A	G	7: 125,090,590 (GRCm39)	V9A	probably benign	Het
Or1q1	T	C	2: 36,887,007 (GRCm39)	F62L	probably benign	Het
Or2a7	T	C	6: 43,151,000 (GRCm39)	F27L	probably benign	Het
Or5b105	T	A	19: 13,079,838 (GRCm39)	T277S	probably benign	Het
Or6c3	A	T	10: 129,308,590 (GRCm39)	I10F	possibly damaging	Het
Per2	A	T	1: 91,357,104 (GRCm39)		probably null	Het
Pgbd1	T	C	13: 21,607,646 (GRCm39)	I183V	probably benign	Het
Pik3c2g	T	C	6: 139,676,195 (GRCm39)	V113A	probably benign	Het
Pipox	A	G	11: 77,773,474 (GRCm39)	L259P	probably damaging	Het
Pkd1l3	C	T	8: 110,365,019 (GRCm39)	Q1124*	probably null	Het
Plcd3	A	G	11: 102,965,757 (GRCm39)	S492P	possibly damaging	Het
Rcor2	T	G	19: 7,248,411 (GRCm39)	M142R	probably benign	Het
Rwdd3	T	C	3: 120,950,101 (GRCm39)	E115G	probably damaging	Het
Slc13a3	T	C	2: 165,250,818 (GRCm39)	Y475C	probably damaging	Het
Slc14a2	A	T	18: 78,202,297 (GRCm39)	I611N	possibly damaging	Het
Slc25a24	G	T	3: 109,043,617 (GRCm39)	M91I	probably damaging	Het
Spg11	T	C	2: 121,922,786 (GRCm39)	S888G	probably benign	Het
Spta1	A	T	1: 174,014,714 (GRCm39)		probably null	Het
Stk35	C	A	2: 129,652,607 (GRCm39)	D369E	possibly damaging	Het
Tanc1	T	C	2: 59,637,986 (GRCm39)	S889P	probably damaging	Het
Tbc1d10b	T	C	7: 126,798,050 (GRCm39)	N697S	probably damaging	Het
Tcof1	A	T	18: 60,947,852 (GRCm39)		probably null	Het
Tg	T	A	15: 66,543,160 (GRCm39)	Y25N	probably damaging	Het
Thbs1	T	C	2: 117,949,598 (GRCm39)	C563R	probably damaging	Het
Tlr11	A	G	14: 50,600,512 (GRCm39)	S833G	possibly damaging	Het
Uggt2	T	A	14: 119,294,976 (GRCm39)	H550L	probably benign	Het
Utp20	A	G	10: 88,591,048 (GRCm39)		probably null	Het
Wbp1l	T	A	19: 46,642,758 (GRCm39)	L253Q	probably damaging	Het
Zfp433	T	A	10: 81,556,078 (GRCm39)	S161R	possibly damaging	Het
Zfp865	A	G	7: 5,032,782 (GRCm39)	T256A	probably damaging	Het
Zpr1	A	G	9: 46,186,009 (GRCm39)	D160G	probably benign	Het

Other mutations in Arl8b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01919:Arl8b	APN	6	108,798,518 (GRCm39)	utr 3 prime	probably benign
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
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

Predicted Primers

PCR Primer
(F):5'- TGACCAAGTCATTGCTCAAGC -3'
(R):5'- TGCAGTTCATTTCGAGAGGC -3'

Sequencing Primer
(F):5'- GACCAAGTCATTGCTCAAGCAGAAG -3'
(R):5'- CGATCTGCAGCATCTATCATGTAAC -3'

Posted On

2018-05-21