Mutagenetix > Incidental Mutation

Incidental Mutation 'R7127:Arl13b'

552421

Institutional Source

Beutler Lab

Gene Symbol

Arl13b

Ensembl Gene

ENSMUSG00000022911

Gene Name

ADP-ribosylation factor-like 13B

Synonyms

C530009C10Rik, hnn, A530097K21Rik, A930014M17Rik, Arl2l1

MMRRC Submission

045246-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7127 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

62614048-62667403 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 62622102 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 397 (G397D)

Ref Sequence

ENSEMBL: ENSMUSP00000086703 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000089289]

AlphaFold

Q640N2

Predicted Effect

probably damaging
Transcript: ENSMUST00000089289
AA Change: G397D

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

SMART Domains

Protein: ENSMUSP00000086703
Gene: ENSMUSG00000022911
AA Change: G397D

Domain	Start	End	E-Value	Type
Pfam:Arf	8	190	8.2e-43	PFAM
Pfam:SRPRB	19	157	7.1e-8	PFAM
Pfam:Roc	23	134	5.4e-9	PFAM
Pfam:Ras	23	183	3.1e-10	PFAM
low complexity region	207	233	N/A	INTRINSIC
low complexity region	265	281	N/A	INTRINSIC
low complexity region	322	334	N/A	INTRINSIC
low complexity region	344	349	N/A	INTRINSIC
low complexity region	366	388	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the ADP-ribosylation factor-like family. The encoded protein is a small GTPase that contains both N-terminal and C-terminal guanine nucleotide-binding motifs. This protein is localized in the cilia and plays a role in cilia formation and in maintenance of cilia. Mutations in this gene are the cause of Joubert syndrome 8. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010]
PHENOTYPE: Mice homozygous for an ENU-induced mutation die at E13-E14 exhibiting left-right randomization and absence of the floor plate in the caudal spinal cord. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	C	T	7: 119,931,825 (GRCm39)	T26I	probably benign	Het
Adam5	A	T	8: 25,300,797 (GRCm39)	I244N	probably damaging	Het
Adam7	A	G	14: 68,752,218 (GRCm39)		probably null	Het
Aox4	T	A	1: 58,268,033 (GRCm39)	N204K	probably benign	Het
AU041133	T	C	10: 81,986,700 (GRCm39)	F118L	probably benign	Het
Brinp1	C	T	4: 68,711,260 (GRCm39)	R316H	probably benign	Het
Cabcoco1	C	T	10: 68,272,160 (GRCm39)	V268I	probably benign	Het
Car15	T	C	16: 17,656,060 (GRCm39)		probably benign	Het
Ccdc185	G	T	1: 182,576,421 (GRCm39)	D89E	possibly damaging	Het
Cckar	T	A	5: 53,863,817 (GRCm39)	Y48F	probably damaging	Het
Cdyl	T	A	13: 36,040,651 (GRCm39)	S282T	probably benign	Het
Clca3a1	T	C	3: 144,711,806 (GRCm39)	T730A	probably damaging	Het
Cracr2b	T	C	7: 141,045,695 (GRCm39)	S318P	possibly damaging	Het
Depdc1b	T	C	13: 108,460,462 (GRCm39)	F24S	probably damaging	Het
Duox2	C	T	2: 122,122,430 (GRCm39)	G565D	probably benign	Het
Ehbp1	A	T	11: 22,003,529 (GRCm39)	Y1073*	probably null	Het
Epg5	A	T	18: 78,072,140 (GRCm39)	N2384I	probably damaging	Het
Fam171b	A	G	2: 83,710,110 (GRCm39)	D594G	probably benign	Het
Flad1	A	G	3: 89,310,725 (GRCm39)	Y441H	probably damaging	Het
Fn1	T	C	1: 71,636,703 (GRCm39)	T2150A	probably benign	Het
Fnta	C	A	8: 26,497,231 (GRCm39)	R206L	probably damaging	Het
Gadd45b	A	T	10: 80,766,999 (GRCm39)	M95L	probably benign	Het
Gbp8	A	T	5: 105,165,578 (GRCm39)	H358Q	probably benign	Het
Glipr1l3	C	A	10: 111,983,995 (GRCm39)	G157V	probably damaging	Het
Hoxc13	T	C	15: 102,829,903 (GRCm39)	I94T	possibly damaging	Het
Hunk	A	G	16: 90,272,779 (GRCm39)	D361G	probably damaging	Het
Igkv3-4	T	A	6: 70,649,155 (GRCm39)	Y51*	probably null	Het
Kif26a	C	T	12: 112,144,579 (GRCm39)	P1611L	probably damaging	Het
Lamb1	T	C	12: 31,374,314 (GRCm39)	L1559P	probably damaging	Het
Lrrc8d	T	C	5: 105,960,829 (GRCm39)	V413A	probably damaging	Het
Med6	C	T	12: 81,635,774 (GRCm39)	R86Q	probably damaging	Het
Myrf	A	T	19: 10,192,705 (GRCm39)	S605T	probably benign	Het
Or6c66b	T	A	10: 129,376,936 (GRCm39)	C177S	probably damaging	Het
Plk3	A	T	4: 116,987,767 (GRCm39)	V429E	probably benign	Het
Plrg1	C	T	3: 82,967,222 (GRCm39)	P131L	probably damaging	Het
Plscr4	C	T	9: 92,372,831 (GRCm39)	R318*	probably null	Het
Rab34	A	T	11: 78,082,056 (GRCm39)	K152*	probably null	Het
Rasef	A	T	4: 73,662,369 (GRCm39)	S194T	probably damaging	Het
Rcc1	A	G	4: 132,062,107 (GRCm39)	S269P	probably damaging	Het
Resf1	T	C	6: 149,229,443 (GRCm39)	F830L	possibly damaging	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,229,121 (GRCm39)		probably benign	Het
Ryr2	C	T	13: 11,670,599 (GRCm39)	V3466M	probably damaging	Het
Scin	A	G	12: 40,155,071 (GRCm39)	I174T	possibly damaging	Het
Serpinb8	A	G	1: 107,525,200 (GRCm39)	M1V	probably null	Het
Smok3c	A	T	5: 138,062,971 (GRCm39)	I153F	probably damaging	Het
Spen	G	A	4: 141,203,419 (GRCm39)	S1736L	possibly damaging	Het
Sspo	T	A	6: 48,426,446 (GRCm39)	M155K	probably benign	Het
Stip1	C	T	19: 6,999,178 (GRCm39)	G467S	possibly damaging	Het
Sun2	T	C	15: 79,612,100 (GRCm39)	I528M	probably benign	Het
Syne1	G	A	10: 5,193,180 (GRCm39)	A3956V	probably damaging	Het
Taok2	G	T	7: 126,466,326 (GRCm39)	A831E	possibly damaging	Het
Tas2r126	T	C	6: 42,411,739 (GRCm39)	F91L	probably damaging	Het
Tas2r140	A	G	6: 133,031,922 (GRCm39)	S279P	possibly damaging	Het
Tiam1	A	T	16: 89,657,148 (GRCm39)	L696H	probably damaging	Het
Trank1	T	G	9: 111,194,864 (GRCm39)	S963A	possibly damaging	Het
Trf	A	G	9: 103,102,326 (GRCm39)	V184A	probably benign	Het
Ttll13	T	A	7: 79,903,406 (GRCm39)	M231K	possibly damaging	Het
Tuba1a	T	G	15: 98,849,455 (GRCm39)	T41P	probably benign	Het
Zfhx4	A	G	3: 5,478,104 (GRCm39)	Q3573R	probably damaging	Het
Zfp141	G	A	7: 42,124,853 (GRCm39)	H540Y	probably damaging	Het

Other mutations in Arl13b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01659:Arl13b	APN	16	62,623,113 (GRCm39)	missense	possibly damaging	0.47
IGL02994:Arl13b	APN	16	62,632,366 (GRCm39)	missense	probably damaging	1.00
R0499:Arl13b	UTSW	16	62,622,096 (GRCm39)	missense	probably benign	0.03
R1484:Arl13b	UTSW	16	62,626,999 (GRCm39)	missense	probably benign
R1618:Arl13b	UTSW	16	62,633,640 (GRCm39)	splice site	probably null
R1637:Arl13b	UTSW	16	62,651,147 (GRCm39)	missense	probably damaging	1.00
R1656:Arl13b	UTSW	16	62,627,007 (GRCm39)	missense	possibly damaging	0.53
R4526:Arl13b	UTSW	16	62,632,374 (GRCm39)	missense	probably damaging	1.00
R4927:Arl13b	UTSW	16	62,622,150 (GRCm39)	missense	probably damaging	1.00
R7883:Arl13b	UTSW	16	62,647,629 (GRCm39)	missense	probably damaging	1.00
R8054:Arl13b	UTSW	16	62,626,960 (GRCm39)	missense	probably benign	0.00
R9272:Arl13b	UTSW	16	62,647,774 (GRCm39)	missense	probably benign
R9405:Arl13b	UTSW	16	62,632,260 (GRCm39)	missense	possibly damaging	0.93

Predicted Primers

PCR Primer
(F):5'- GCTGGAAAACTTTTCTCAGAATTGG -3'
(R):5'- ACTGCAAATGTGGGTGTTCAG -3'

Sequencing Primer
(F):5'- GTCAAATTATATAGCTGTAAGGTAC -3'
(R):5'- GTTCAGAATTGTTCACTGACATGG -3'

Posted On

2019-05-15