Mutagenetix > Incidental Mutation

Incidental Mutation 'R3815:Arl8b'

274235

Institutional Source

Beutler Lab

Gene Symbol

Arl8b

Ensembl Gene

ENSMUSG00000030105

Gene Name

ADP-ribosylation factor-like 8B

Synonyms

2610313E07Rik, Arl10c, 3100002J04Rik

MMRRC Submission

040770-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.561) question?

Stock #

R3815 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

108760020-108800684 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 108790658 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 65 (V65D)

Ref Sequence

ENSEMBL: ENSMUSP00000032196 (fasta)

Gene Model

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

AlphaFold

Q9CQW2

Predicted Effect

probably damaging
Transcript: ENSMUST00000032196
AA Change: V65D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000032196
Gene: ENSMUSG00000030105
AA Change: V65D

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000204483
AA Change: V17D

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

SMART Domains

Protein: ENSMUSP00000145035
Gene: ENSMUSG00000030105
AA Change: V17D

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

Meta Mutation Damage Score

0.9569

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.7%
20x: 96.2%

Validation Efficiency

100% (55/55)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aak1	T	C	6: 86,936,024 (GRCm39)		probably benign	Het
Aldh18a1	A	G	19: 40,558,944 (GRCm39)	S299P	probably damaging	Het
Ankrd6	A	C	4: 32,806,206 (GRCm39)	S618R	probably benign	Het
Apobec3	G	T	15: 79,783,301 (GRCm39)	R126M	possibly damaging	Het
AW554918	C	T	18: 25,533,104 (GRCm39)	R253C	probably benign	Het
Cd177	A	G	7: 24,453,817 (GRCm39)	V358A	probably benign	Het
Cdca7l	G	A	12: 117,835,948 (GRCm39)	V95I	probably damaging	Het
Ces1e	A	G	8: 93,928,467 (GRCm39)		probably null	Het
Cfap90	A	G	13: 68,759,344 (GRCm39)	H106R	probably damaging	Het
Coq5	T	G	5: 115,433,957 (GRCm39)	F306V	probably damaging	Het
Cpsf1	A	G	15: 76,485,349 (GRCm39)	V501A	probably benign	Het
Csmd1	C	T	8: 16,052,522 (GRCm39)	A2201T	probably damaging	Het
Cul5	T	A	9: 53,534,243 (GRCm39)	I630L	probably benign	Het
Cyp4a12b	A	T	4: 115,289,667 (GRCm39)	D178V	probably damaging	Het
Dedd	A	G	1: 171,166,469 (GRCm39)	E135G	probably benign	Het
Ecel1	A	G	1: 87,080,622 (GRCm39)	F368S	probably damaging	Het
Ext1	A	C	15: 53,208,485 (GRCm39)	I92S	probably benign	Het
Fbxw5	A	T	2: 25,393,576 (GRCm39)	D268V	possibly damaging	Het
Flacc1	T	G	1: 58,698,164 (GRCm39)	N379T	probably damaging	Het
Gen1	A	T	12: 11,302,034 (GRCm39)	V192E	possibly damaging	Het
Gm11077	T	G	6: 140,675,041 (GRCm39)	V11G	unknown	Het
Ift88	A	T	14: 57,678,438 (GRCm39)	E150V	possibly damaging	Het
Kcna1	T	C	6: 126,620,009 (GRCm39)	R104G	probably damaging	Het
Kcnd3	C	T	3: 105,566,082 (GRCm39)	A421V	probably damaging	Het
Krt82	A	G	15: 101,459,035 (GRCm39)	S2P	probably damaging	Het
Luc7l2	T	C	6: 38,547,526 (GRCm39)	S69P	possibly damaging	Het
Ly9	G	T	1: 171,416,653 (GRCm39)	T537N	possibly damaging	Het
Mamstr	G	T	7: 45,293,956 (GRCm39)	R20L	probably damaging	Het
Nav1	C	A	1: 135,398,862 (GRCm39)	K573N	possibly damaging	Het
Or5b104	T	C	19: 13,072,277 (GRCm39)	H245R	probably damaging	Het
Or8b12c	C	T	9: 37,715,465 (GRCm39)	S86L	probably benign	Het
Or8b40	A	T	9: 38,027,922 (GRCm39)	T277S	possibly damaging	Het
Or8b55	A	G	9: 38,727,722 (GRCm39)	K308E	possibly damaging	Het
Palld	T	A	8: 62,002,871 (GRCm39)		probably benign	Het
Pcdha2	A	G	18: 37,074,748 (GRCm39)	Y793C	probably benign	Het
Pcdhb4	A	T	18: 37,441,065 (GRCm39)	D125V	probably damaging	Het
Pomgnt1	T	A	4: 116,011,139 (GRCm39)		probably null	Het
Ppp1r9b	A	T	11: 94,883,359 (GRCm39)	E329V	probably damaging	Het
Rarres1	T	A	3: 67,422,654 (GRCm39)	D32V	probably benign	Het
Rhobtb1	A	G	10: 69,121,523 (GRCm39)	H53R	possibly damaging	Het
Ryr1	A	T	7: 28,772,327 (GRCm39)	S2494T	probably damaging	Het
Sapcd2	G	A	2: 25,263,518 (GRCm39)		probably benign	Het
Secisbp2l	C	T	2: 125,582,657 (GRCm39)	G933D	possibly damaging	Het
Senp1	A	C	15: 97,954,713 (GRCm39)	D490E	probably damaging	Het
Sfrp5	C	T	19: 42,187,230 (GRCm39)	R280H	probably benign	Het
Skint5	A	G	4: 113,486,319 (GRCm39)		probably benign	Het
Skint5	G	A	4: 113,703,496 (GRCm39)	T499I	possibly damaging	Het
Smad1	G	A	8: 80,070,359 (GRCm39)	A393V	probably benign	Het
Sorl1	A	G	9: 41,975,345 (GRCm39)	L487P	possibly damaging	Het
Spire1	G	T	18: 67,639,733 (GRCm39)	T273K	probably benign	Het
Tep1	T	C	14: 51,105,772 (GRCm39)	T83A	possibly damaging	Het
Top2b	T	G	14: 16,409,189 (GRCm38)	I777M	probably damaging	Het
Ttn	T	A	2: 76,552,077 (GRCm39)	R29441*	probably null	Het
Wdr37	A	G	13: 8,903,632 (GRCm39)		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
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

Predicted Primers

PCR Primer
(F):5'- CCCAACTCCAAGTTACCCTT -3'
(R):5'- TGGTAATTATAAGTAGCAGGTAAAACC -3'

Sequencing Primer
(F):5'- CCAAGTTACCCTTTTAAAAATCAG -3'
(R):5'- GGACAATACATAACACACATGCATG -3'

Posted On

2015-04-02