Incidental Mutation 'IGL02994:Arl13b'
ID 407054
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Arl13b
Ensembl Gene ENSMUSG00000022911
Gene Name ADP-ribosylation factor-like 13B
Synonyms C530009C10Rik, hnn, A530097K21Rik, A930014M17Rik, Arl2l1
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02994
Quality Score
Status
Chromosome 16
Chromosomal Location 62614048-62667403 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 62632366 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 76 (I76F)
Ref Sequence ENSEMBL: ENSMUSP00000156207 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055557] [ENSMUST00000089289] [ENSMUST00000232561]
AlphaFold Q640N2
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 damaging
Transcript: ENSMUST00000089289
AA Change: I179F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000086703
Gene: ENSMUSG00000022911
AA Change: I179F

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 damaging
Transcript: ENSMUST00000232561
AA Change: I76F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acp3 T A 9: 104,186,602 (GRCm39) probably benign Het
Ahnak2 A G 12: 112,749,827 (GRCm39) V137A probably damaging Het
Alk G T 17: 72,256,815 (GRCm39) F681L probably benign Het
Ankrd35 T C 3: 96,590,307 (GRCm39) probably benign Het
Aqp3 A T 4: 41,093,614 (GRCm39) C267S probably benign Het
Ccn2 T A 10: 24,472,763 (GRCm39) N224K probably damaging Het
Cdc42bpa G T 1: 179,827,002 (GRCm39) R85L probably damaging Het
Dock4 T G 12: 40,829,159 (GRCm39) I1015R probably damaging Het
Dst A G 1: 34,268,333 (GRCm39) probably benign Het
Egfr T C 11: 16,861,811 (GRCm39) Y1197H probably damaging Het
Endod1 A G 9: 14,268,183 (GRCm39) V434A possibly damaging Het
Exosc9 A G 3: 36,607,287 (GRCm39) probably benign Het
Fgg G T 3: 82,915,781 (GRCm39) R74L probably benign Het
Fmo2 A T 1: 162,708,189 (GRCm39) D315E probably damaging Het
H2-M3 G A 17: 37,581,629 (GRCm39) S97N probably benign Het
Ighv14-2 T A 12: 113,958,211 (GRCm39) T77S probably benign Het
Klhl9 A T 4: 88,639,434 (GRCm39) L269* probably null Het
Lin37 G A 7: 30,256,585 (GRCm39) R84W probably damaging Het
Macroh2a1 T C 13: 56,252,112 (GRCm39) probably benign Het
Mkln1 T C 6: 31,467,378 (GRCm39) S31P probably damaging Het
Nacad A G 11: 6,549,528 (GRCm39) L1221P possibly damaging Het
Nbr1 A T 11: 101,447,053 (GRCm39) N13I probably damaging Het
Ndfip1 T C 18: 38,585,469 (GRCm39) I161T probably damaging Het
Nsg1 A G 5: 38,312,946 (GRCm39) probably benign Het
Rsbn1l G T 5: 21,113,232 (GRCm39) T430K probably damaging Het
Serpina6 A G 12: 103,620,210 (GRCm39) S180P probably benign Het
Slc4a5 T C 6: 83,249,106 (GRCm39) L570P probably damaging Het
Tank A G 2: 61,480,636 (GRCm39) probably benign Het
Tpd52 A G 3: 9,012,590 (GRCm39) F76L probably benign Het
Ubox5 A C 2: 130,442,237 (GRCm39) L150R probably benign Het
Zfp710 T C 7: 79,731,581 (GRCm39) S253P probably benign Het
Other mutations in Arl13b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01659:Arl13b APN 16 62,623,113 (GRCm39) missense possibly damaging 0.47
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
R7127:Arl13b UTSW 16 62,622,102 (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
Posted On 2016-08-02