Mutagenetix > Incidental Mutations

Incidental Mutation 'R1160:Arl5b'

100281

Institutional Source

Beutler Lab

Gene Symbol

Arl5b

Ensembl Gene

ENSMUSG00000017418

Gene Name

ADP-ribosylation factor-like 5B

Synonyms

4930587A11Rik, Arl8

MMRRC Submission

039233-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.063) question?

Stock #

R1160 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

15049395-15082456 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 15069837 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 43 (V43A)

Ref Sequence

ENSEMBL: ENSMUSP00000069725 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000017562] [ENSMUST00000069870] [ENSMUST00000128682] [ENSMUST00000193836]

Predicted Effect

probably benign
Transcript: ENSMUST00000017562
AA Change: V34A

PolyPhen 2 Score 0.359 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000017562
Gene: ENSMUSG00000017418
AA Change: V34A

Domain	Start	End	E-Value	Type
ARF	4	171	4.8e-58	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000069870
AA Change: V43A

PolyPhen 2 Score 0.359 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000069725
Gene: ENSMUSG00000017418
AA Change: V43A

Domain	Start	End	E-Value	Type
ARF	2	180	3.95e-68	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000128682

Predicted Effect

silent
Transcript: ENSMUST00000129509

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192653

Predicted Effect

probably benign
Transcript: ENSMUST00000193836

Coding Region Coverage

1x: 98.6%
3x: 97.3%
10x: 92.7%
20x: 81.6%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] ARL5B (ARL8) belongs to a family of proteins that are structurally similar to ADP-ribosylation factors (ARFs; see MIM 103180). ARLs and ARFs are part of the RAS superfamily of regulatory GTPases.[supplied by OMIM, Nov 2010]

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810403A07Rik	C	A	3: 88,708,862	P452Q	probably damaging	Het
Agap1	G	T	1: 89,843,154	K622N	probably damaging	Het
Ap3b2	A	T	7: 81,466,169		probably null	Het
Astn1	T	C	1: 158,600,365	V702A	possibly damaging	Het
Bach1	T	C	16: 87,715,434	V15A	probably benign	Het
Cacna1c	C	T	6: 118,612,625	R1446H	probably damaging	Het
Ccar2	C	T	14: 70,139,769	V774M	probably benign	Het
Dcaf5	T	C	12: 80,340,215	D379G	possibly damaging	Het
Dcpp1	T	A	17: 23,881,431	I45K	possibly damaging	Het
Ddx17	T	A	15: 79,541,087	S128C	probably damaging	Het
Eml3	A	G	19: 8,933,250	N192S	probably benign	Het
Epha3	T	G	16: 63,773,068	D219A	probably damaging	Het
Fhod3	C	T	18: 24,985,236	A210V	probably damaging	Het
Klhl5	A	G	5: 65,141,340	N154S	probably benign	Het
Lrif1	A	G	3: 106,732,717	N373D	possibly damaging	Het
Map3k20	A	G	2: 72,441,520	N664S	probably benign	Het
Olfr625-ps1	A	G	7: 103,682,861	N38D	possibly damaging	Het
Parp14	G	A	16: 35,856,760	A946V	probably benign	Het
Pdia3	G	A	2: 121,432,377	G275S	probably damaging	Het
Pglyrp4	T	A	3: 90,728,831		probably null	Het
Pole	A	G	5: 110,295,253	E349G	possibly damaging	Het
Ptprj	A	G	2: 90,444,524	Y1165H	probably damaging	Het
Rasd1	T	A	11: 59,964,721	I29F	possibly damaging	Het
Scamp3	T	C	3: 89,181,198	F237S	probably damaging	Het
Sccpdh	T	G	1: 179,684,210	D82E	probably benign	Het
Slc19a3	A	C	1: 83,022,692	H201Q	possibly damaging	Het
Slc5a4a	G	A	10: 76,178,161	A401T	possibly damaging	Het
Snupn	T	G	9: 56,957,105	C29W	probably benign	Het
Sorbs2	A	G	8: 45,770,576	Y222C	probably damaging	Het
Sox17	A	T	1: 4,491,852	V310E	probably damaging	Het
Srgap1	T	A	10: 121,855,477	Y284F	probably benign	Het
Srpk1	C	A	17: 28,599,774	V363F	probably benign	Het
Syt13	T	A	2: 92,943,042		probably null	Het
Taf2	A	G	15: 55,071,397	V45A	probably benign	Het
Tal1	A	T	4: 115,068,616	D294V	probably damaging	Het
Tbl2	A	G	5: 135,159,392	T347A	probably benign	Het
Tet3	A	G	6: 83,404,452	S110P	probably benign	Het
Tmem132a	A	G	19: 10,858,574	V864A	probably damaging	Het
Trak1	T	C	9: 121,392,007	I80T	probably benign	Het
Trappc6b	G	A	12: 59,050,278	T86I	probably damaging	Het
Usf3	T	A	16: 44,218,547	I1130N	probably damaging	Het
Xirp2	T	C	2: 67,509,887	V824A	possibly damaging	Het
Zfp810	T	C	9: 22,278,532	Y360C	possibly damaging	Het
Zmiz1	T	A	14: 25,654,512	V685E	probably damaging	Het
Zp2	A	T	7: 120,136,045	D368E	probably damaging	Het

Other mutations in Arl5b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00586:Arl5b	APN	2	15069935	missense	probably benign	0.03
IGL02374:Arl5b	APN	2	15068192	missense	probably damaging	1.00
IGL03213:Arl5b	APN	2	15069865	missense	probably damaging	1.00
IGL03396:Arl5b	APN	2	15075104	missense	probably damaging	0.96
R0559:Arl5b	UTSW	2	15073187	missense	probably damaging	1.00
R0959:Arl5b	UTSW	2	15073131	missense	probably damaging	1.00
R1766:Arl5b	UTSW	2	15069837	missense	probably benign	0.36
R2100:Arl5b	UTSW	2	15073195	missense	probably benign	0.03
R2403:Arl5b	UTSW	2	15075037	missense	probably damaging	1.00
R4272:Arl5b	UTSW	2	15073179	missense	probably damaging	1.00
R6782:Arl5b	UTSW	2	15073182	missense	probably damaging	0.98
R7423:Arl5b	UTSW	2	15068172	missense	probably damaging	1.00
Z1088:Arl5b	UTSW	2	15075021	missense	probably benign	0.04

Predicted Primers

Posted On

2014-01-15