Incidental Mutation 'R1618:Arl13b'
ID174472
Institutional Source Beutler Lab
Gene Symbol Arl13b
Ensembl Gene ENSMUSG00000022911
Gene NameADP-ribosylation factor-like 13B
Synonymshnn, A930014M17Rik, Arl2l1, A530097K21Rik, C530009C10Rik
MMRRC Submission 039655-MU
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R1618 (G1)
Quality Score193
Status Not validated
Chromosome16
Chromosomal Location62793685-62847040 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) A to C at 62813277 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000156207 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055557] [ENSMUST00000089289] [ENSMUST00000232561]
Predicted Effect probably benign
Transcript: ENSMUST00000055557
SMART Domains Protein: ENSMUSP00000055901
Gene: ENSMUSG00000047854

DomainStartEndE-ValueType
Blast:SynN 51 161 4e-18 BLAST
t_SNARE 202 269 3.21e-9 SMART
low complexity region 277 289 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000089289
SMART Domains Protein: ENSMUSP00000086703
Gene: ENSMUSG00000022911

DomainStartEndE-ValueType
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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000102469
Predicted Effect probably null
Transcript: ENSMUST00000232561
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.3%
  • 20x: 89.1%
Validation Efficiency 96% (79/82)
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930449E01Rik T C 14: 105,498,946 noncoding transcript Het
Abca8b A T 11: 109,949,888 probably benign Het
Akp3 G A 1: 87,127,871 G547R unknown Het
Anln A G 9: 22,350,918 probably null Het
Anpep T G 7: 79,835,417 Q607P probably benign Het
Asxl3 T C 18: 22,516,987 S678P probably damaging Het
Atf6b C T 17: 34,647,728 Q58* probably null Het
Camsap3 A G 8: 3,598,740 T20A possibly damaging Het
Cfap46 T A 7: 139,652,810 M782L probably benign Het
Cngb3 T C 4: 19,364,260 S155P probably benign Het
Coro1a T C 7: 126,701,547 I162V probably benign Het
Cry1 T A 10: 85,146,454 I343F probably damaging Het
Csnk1e A T 15: 79,424,850 M292K probably benign Het
Cul7 T A 17: 46,663,190 L1467H probably damaging Het
Cul9 A T 17: 46,525,892 M1069K probably benign Het
Cyp2c67 C A 19: 39,643,264 probably benign Het
Dnah11 T C 12: 118,015,465 I2633V probably damaging Het
Eif4g3 C A 4: 138,206,058 D1731E probably damaging Het
Epb41l4b T C 4: 57,032,204 T592A probably benign Het
Evi5 T C 5: 107,799,118 probably benign Het
Exo1 T A 1: 175,901,386 M672K probably benign Het
Fcho1 T C 8: 71,710,403 S661G probably damaging Het
Fnip2 A G 3: 79,508,168 Y188H possibly damaging Het
Foxb1 T C 9: 69,760,011 D79G probably damaging Het
Fyco1 T C 9: 123,829,281 Y610C probably damaging Het
Gm3095 C A 14: 3,964,571 N96K probably damaging Het
Gm3095 T A 14: 3,964,572 Y97N probably damaging Het
Gmfb A T 14: 46,811,780 L128* probably null Het
Gprc5c T A 11: 114,864,394 V299D possibly damaging Het
Hsfy2 C T 1: 56,637,229 V50I probably benign Het
Hspa12b A C 2: 131,140,929 K236Q probably benign Het
Impg2 A G 16: 56,259,858 Y566C probably damaging Het
Itpr3 A C 17: 27,116,607 probably null Het
Kprp G A 3: 92,825,476 T89I probably damaging Het
Lcmt2 T C 2: 121,138,652 E650G probably damaging Het
Lrch1 T C 14: 74,813,704 D331G probably damaging Het
Mroh9 T A 1: 163,024,541 I860F probably benign Het
Mylk G C 16: 34,879,475 E403Q possibly damaging Het
Myt1l A G 12: 29,827,397 D349G unknown Het
Ndufs2 T C 1: 171,246,121 T31A probably benign Het
Ndufs3 A T 2: 90,898,672 S157T probably benign Het
Nfix G A 8: 84,726,526 R300C probably damaging Het
Noct T A 3: 51,247,830 S6R probably damaging Het
Npas2 T A 1: 39,300,727 H119Q probably damaging Het
Olfr1076 T G 2: 86,508,849 L130R probably damaging Het
Olfr1206 A G 2: 88,865,527 probably null Het
Olfr138 G A 17: 38,275,666 probably null Het
Oprl1 A T 2: 181,718,853 Y207F probably benign Het
Palm3 G T 8: 84,029,662 S601I possibly damaging Het
Plscr1 T A 9: 92,266,495 C163S probably damaging Het
Ptprk A T 10: 28,493,170 M713L probably benign Het
Rdm1 A G 11: 101,628,391 D72G possibly damaging Het
Reln T C 5: 22,060,368 D442G probably benign Het
Rims4 C T 2: 163,863,929 V262M possibly damaging Het
Sbno1 T C 5: 124,404,216 Y338C probably damaging Het
Seh1l T G 18: 67,788,736 V222G probably damaging Het
Sept12 T C 16: 4,996,476 K43R probably damaging Het
Slc25a18 A C 6: 120,786,342 probably benign Het
Slc33a1 T C 3: 63,948,229 T332A possibly damaging Het
Slc35d3 A G 10: 19,849,163 S316P probably benign Het
Spata48 A G 11: 11,488,641 probably benign Het
Srrm2 T A 17: 23,818,932 probably benign Het
Srsf12 C T 4: 33,230,974 S156L probably damaging Het
Syce3 A G 15: 89,390,403 M49T probably benign Het
Tjp3 T C 10: 81,276,260 probably benign Het
Tnks G T 8: 34,875,276 N373K probably damaging Het
Togaram1 A G 12: 64,967,073 N366S possibly damaging Het
Trpm1 G A 7: 64,240,535 R962H probably damaging Het
Trpm6 A T 19: 18,877,631 M1885L possibly damaging Het
Tshz3 A G 7: 36,771,796 D1070G probably damaging Het
Ush2a T C 1: 188,814,224 M3399T probably benign Het
Utp15 G A 13: 98,257,187 T196I probably benign Het
Vmn1r168 T C 7: 23,541,300 I194T probably benign Het
Vmn2r73 C T 7: 85,875,912 W9* probably null Het
Wdr17 T C 8: 54,639,895 Y1076C probably damaging Het
Zan T C 5: 137,383,830 T5152A unknown Het
Zbtb46 A T 2: 181,424,249 V36E possibly damaging Het
Zfp558 T C 9: 18,469,283 I9M possibly damaging Het
Zscan2 T A 7: 80,875,786 Y418* probably null Het
Other mutations in Arl13b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01659:Arl13b APN 16 62802750 missense possibly damaging 0.47
IGL02994:Arl13b APN 16 62812003 missense probably damaging 1.00
R0499:Arl13b UTSW 16 62801733 missense probably benign 0.03
R1484:Arl13b UTSW 16 62806636 missense probably benign
R1637:Arl13b UTSW 16 62830784 missense probably damaging 1.00
R1656:Arl13b UTSW 16 62806644 missense possibly damaging 0.53
R4526:Arl13b UTSW 16 62812011 missense probably damaging 1.00
R4927:Arl13b UTSW 16 62801787 missense probably damaging 1.00
R7127:Arl13b UTSW 16 62801739 missense not run
Predicted Primers
Posted On2014-04-24