Mutagenetix > Incidental Mutation

Incidental Mutation 'R7898:Arl5b'

609793

Institutional Source

Beutler Lab

Gene Symbol

Arl5b

Ensembl Gene

ENSMUSG00000017418

Gene Name

ADP-ribosylation factor-like 5B

Synonyms

Arl8, 4930587A11Rik

MMRRC Submission

045950-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.068) question?

Stock #

R7898 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

15060066-15087267 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 15079869 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 147 (S147T)

Ref Sequence

ENSEMBL: ENSMUSP00000069725 (fasta)

Gene Model

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

AlphaFold

Q9D4P0

Predicted Effect

probably damaging
Transcript: ENSMUST00000017562
AA Change: S138T

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000017562
Gene: ENSMUSG00000017418
AA Change: S138T

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000069870
AA Change: S147T

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000069725
Gene: ENSMUSG00000017418
AA Change: S147T

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

Predicted Effect

probably benign
Transcript: ENSMUST00000128682

Predicted Effect

probably benign
Transcript: ENSMUST00000129509

Predicted Effect

probably benign
Transcript: ENSMUST00000193836

Predicted Effect

probably benign
Transcript: ENSMUST00000193883
AA Change: S20T

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

99% (69/70)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	T	C	11: 84,255,275 (GRCm39)		probably null	Het
Afg2a	T	G	3: 37,474,620 (GRCm39)	M44R	probably benign	Het
Ankef1	C	A	2: 136,395,618 (GRCm39)	N649K	probably benign	Het
Arnt2	A	T	7: 83,918,155 (GRCm39)		probably null	Het
Ash1l	A	G	3: 88,890,932 (GRCm39)	E937G	possibly damaging	Het
Asxl1	T	G	2: 153,241,854 (GRCm39)	S802R	possibly damaging	Het
Cacna1h	T	A	17: 25,611,250 (GRCm39)	H516L	probably damaging	Het
Cad	A	G	5: 31,218,829 (GRCm39)	Y550C	probably damaging	Het
Cdo1	A	G	18: 46,861,157 (GRCm39)	I18T	probably benign	Het
Cfap251	A	T	5: 123,460,517 (GRCm39)	I1160F	probably damaging	Het
Chd2	A	G	7: 73,169,223 (GRCm39)		probably null	Het
Dbf4	A	G	5: 8,458,232 (GRCm39)		probably null	Het
Dcdc2a	A	T	13: 25,286,361 (GRCm39)	R132W	possibly damaging	Het
Dnah10	T	C	5: 124,859,425 (GRCm39)	S2131P	probably damaging	Het
Eef2k	A	G	7: 120,494,441 (GRCm39)	Y599C	probably damaging	Het
Eno2	C	T	6: 124,744,225 (GRCm39)		probably null	Het
Fam124b	T	A	1: 80,191,512 (GRCm39)		probably benign	Het
Fezf2	A	G	14: 12,342,701 (GRCm38)	I388T	possibly damaging	Het
Gbp11	T	C	5: 105,472,798 (GRCm39)	N542S	probably benign	Het
Gdpd1	T	A	11: 86,932,639 (GRCm39)	I229F	probably damaging	Het
Gria1	T	A	11: 57,133,591 (GRCm39)	V490E	probably damaging	Het
Grm8	G	A	6: 27,762,422 (GRCm39)	R268C	probably damaging	Het
Hectd4	T	A	5: 121,469,880 (GRCm39)	S2592T	probably benign	Het
Herpud1	C	T	8: 95,118,828 (GRCm39)	T194I	probably benign	Het
Hspa1b	T	C	17: 35,177,167 (GRCm39)	T273A	probably benign	Het
Iftap	T	A	2: 101,416,747 (GRCm39)	K67N	probably benign	Het
Ighm	T	A	12: 113,384,873 (GRCm39)	K327*	probably null	Het
Igkv3-4	A	T	6: 70,649,297 (GRCm39)	I99F	probably damaging	Het
Iqca1l	T	C	5: 24,758,643 (GRCm39)	E117G	probably damaging	Het
Isl2	C	A	9: 55,449,723 (GRCm39)	S97R	probably benign	Het
Klhl12	A	T	1: 134,386,219 (GRCm39)	I4F	probably benign	Het
Lgalsl2	G	A	7: 5,362,441 (GRCm39)	R24H	probably benign	Het
Lrp2	T	C	2: 69,271,710 (GRCm39)	E4074G	probably benign	Het
Mcm3ap	A	G	10: 76,342,441 (GRCm39)	N1645D	probably damaging	Het
Mettl23	T	C	11: 116,736,679 (GRCm39)		probably benign	Het
Mettl24	A	G	10: 40,686,478 (GRCm39)	E285G	probably benign	Het
Mis18bp1	A	G	12: 65,196,246 (GRCm39)	L506P	probably benign	Het
Mup18	G	T	4: 61,590,925 (GRCm39)		probably null	Het
Myom1	T	C	17: 71,352,747 (GRCm39)	L357P	probably benign	Het
Nkx2-9	G	A	12: 56,659,031 (GRCm39)	A61V	probably benign	Het
Or52n5	C	T	7: 104,588,573 (GRCm39)	A280V	probably damaging	Het
Pbx1	A	T	1: 168,012,616 (GRCm39)	M340K	probably benign	Het
Pcdhb17	A	T	18: 37,618,233 (GRCm39)	N8Y	probably benign	Het
Pex13	C	A	11: 23,600,929 (GRCm39)		probably null	Het
Pierce1	TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC	TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC	2: 28,356,122 (GRCm39)		probably benign	Het
Plxnb1	A	G	9: 108,943,408 (GRCm39)	R1884G	probably damaging	Het
Polq	T	A	16: 36,865,245 (GRCm39)	V699E	probably damaging	Het
Ppl	C	T	16: 4,906,725 (GRCm39)	R1190H	probably damaging	Het
Prr14l	A	T	5: 32,987,310 (GRCm39)	H728Q	probably benign	Het
Prss12	T	C	3: 123,300,145 (GRCm39)	V752A	possibly damaging	Het
Prss56	A	G	1: 87,111,921 (GRCm39)	S51G	probably benign	Het
Pwp2	G	A	10: 78,009,240 (GRCm39)	R854W	probably damaging	Het
Rhobtb2	C	T	14: 70,033,746 (GRCm39)	C493Y	probably damaging	Het
Rictor	C	T	15: 6,801,635 (GRCm39)	S441L	probably benign	Het
Rusf1	C	A	7: 127,897,177 (GRCm39)	A27S	probably benign	Het
Scap	A	G	9: 110,213,811 (GRCm39)	N1258S	possibly damaging	Het
Sec31a	C	T	5: 100,547,336 (GRCm39)	G218R	probably damaging	Het
Siglec15	A	T	18: 78,086,914 (GRCm39)	M315K	probably benign	Het
Slc17a6	G	A	7: 51,308,573 (GRCm39)		probably null	Het
Smchd1	T	C	17: 71,684,813 (GRCm39)		probably null	Het
Spag4	A	T	2: 155,911,244 (GRCm39)	D393V	probably damaging	Het
Sulf1	A	G	1: 12,875,518 (GRCm39)	N176S	probably damaging	Het
Tmem9	T	A	1: 135,955,125 (GRCm39)		probably null	Het
Tnpo3	T	C	6: 29,565,223 (GRCm39)	I577V	probably benign	Het
Tti1	A	C	2: 157,835,390 (GRCm39)	I956S	probably benign	Het
Wdr81	T	C	11: 75,344,725 (GRCm39)	R181G	probably benign	Het
Zfp462	T	A	4: 55,012,995 (GRCm39)	C1654S	probably damaging	Het
Zfp74	A	T	7: 29,635,380 (GRCm39)	C109*	probably null	Het
Znrf4	A	G	17: 56,818,681 (GRCm39)	C209R	probably damaging	Het
Zzef1	T	G	11: 72,687,373 (GRCm39)	L84R	probably damaging	Het

Other mutations in Arl5b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00586:Arl5b	APN	2	15,074,746 (GRCm39)	missense	probably benign	0.03
IGL02374:Arl5b	APN	2	15,073,003 (GRCm39)	missense	probably damaging	1.00
IGL03213:Arl5b	APN	2	15,074,676 (GRCm39)	missense	probably damaging	1.00
IGL03396:Arl5b	APN	2	15,079,915 (GRCm39)	missense	probably damaging	0.96
R0559:Arl5b	UTSW	2	15,077,998 (GRCm39)	missense	probably damaging	1.00
R0959:Arl5b	UTSW	2	15,077,942 (GRCm39)	missense	probably damaging	1.00
R1160:Arl5b	UTSW	2	15,074,648 (GRCm39)	missense	probably benign	0.36
R1766:Arl5b	UTSW	2	15,074,648 (GRCm39)	missense	probably benign	0.36
R2100:Arl5b	UTSW	2	15,078,006 (GRCm39)	missense	probably benign	0.03
R2403:Arl5b	UTSW	2	15,079,848 (GRCm39)	missense	probably damaging	1.00
R4272:Arl5b	UTSW	2	15,077,990 (GRCm39)	missense	probably damaging	1.00
R6782:Arl5b	UTSW	2	15,077,993 (GRCm39)	missense	probably damaging	0.98
R7423:Arl5b	UTSW	2	15,072,983 (GRCm39)	missense	probably damaging	1.00
R8528:Arl5b	UTSW	2	15,078,138 (GRCm39)	splice site	probably null
R9036:Arl5b	UTSW	2	15,073,012 (GRCm39)	critical splice donor site	probably null
Z1088:Arl5b	UTSW	2	15,079,832 (GRCm39)	missense	probably benign	0.04

Predicted Primers

PCR Primer
(F):5'- GCAGGATACAATTTACACTCTGACTTC -3'
(R):5'- CAGGTGACATTGCAGCTTTTG -3'

Sequencing Primer
(F):5'- ACACTCTGACTTCATAGTTTAACTTG -3'
(R):5'- ACATTTAATTCCACAGCTTCTTATGC -3'

Posted On

2019-12-20