Incidental Mutation 'IGL02531:Rab23'
ID297331
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rab23
Ensembl Gene ENSMUSG00000004768
Gene NameRAB23, member RAS oncogene family
Synonyms
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02531
Quality Score
Status
Chromosome1
Chromosomal Location33719887-33742564 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) T to C at 33738280 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000137896 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000088287] [ENSMUST00000115174] [ENSMUST00000138024]
Predicted Effect probably benign
Transcript: ENSMUST00000088287
SMART Domains Protein: ENSMUSP00000085625
Gene: ENSMUSG00000004768

DomainStartEndE-ValueType
RAB 10 172 7.79e-58 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000115174
SMART Domains Protein: ENSMUSP00000110828
Gene: ENSMUSG00000004768

DomainStartEndE-ValueType
RAB 10 172 7.79e-58 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000122822
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132066
Predicted Effect probably benign
Transcript: ENSMUST00000138024
SMART Domains Protein: ENSMUSP00000137896
Gene: ENSMUSG00000004768

DomainStartEndE-ValueType
Pfam:Miro 11 59 1.9e-6 PFAM
Pfam:Ras 11 61 6.3e-14 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150593
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151482
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 small GTPase of the Ras superfamily. Rab proteins are involved in the regulation of diverse cellular functions associated with intracellular membrane trafficking, including autophagy and immune response to bacterial infection. The encoded protein may play a role in central nervous system development by antagonizing sonic hedgehog signaling. Disruption of this gene has been implicated in Carpenter syndrome as well as cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
PHENOTYPE: Mice homozygous for a spontaneous allele show neural tube defects, exencephaly, spinal cord and dorsal root ganglia anomalies, malformed eyes and defects in the axial skeleton and developing limbs. Mice homozygous for an ENU-induced allele die in utero with exencephaly, polydactyly and eye defects. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aak1 C A 6: 86,956,447 H467N unknown Het
Alb A G 5: 90,467,448 D273G probably damaging Het
Arap3 A G 18: 37,989,751 S531P probably damaging Het
Bmpr2 T A 1: 59,845,714 probably null Het
Chd7 G A 4: 8,854,134 R1902H probably damaging Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Cyp2b13 A T 7: 26,061,605 H29L possibly damaging Het
Enpp5 G T 17: 44,080,952 V91F probably damaging Het
Fam210b T C 2: 172,352,755 Y176H probably damaging Het
Fam83b T C 9: 76,492,000 E607G possibly damaging Het
Gm4788 T C 1: 139,774,569 K59R probably benign Het
Hhla1 C T 15: 65,967,407 probably benign Het
Kdm3b A G 18: 34,795,729 T178A probably benign Het
Klf1 T A 8: 84,904,808 F334I probably damaging Het
Klra8 A G 6: 130,118,970 S220P possibly damaging Het
Medag A G 5: 149,422,151 N99S probably benign Het
Muc6 T C 7: 141,636,940 T2607A possibly damaging Het
Mug2 T G 6: 122,072,771 L921R probably damaging Het
Nacad T C 11: 6,598,580 N1385D possibly damaging Het
Nin A G 12: 70,020,932 F1983L probably benign Het
Nipal4 T C 11: 46,151,325 I176M probably damaging Het
Orc6 T C 8: 85,303,369 S47P probably damaging Het
Ovch2 C T 7: 107,790,198 C341Y probably damaging Het
Polq T A 16: 37,062,374 H1633Q possibly damaging Het
Rai14 A G 15: 10,574,782 S697P probably damaging Het
Rnf213 T C 11: 119,436,802 F1872L probably benign Het
Sdhc T C 1: 171,136,018 H127R probably damaging Het
Snx9 T C 17: 5,891,820 V74A probably benign Het
Spata31d1d A G 13: 59,727,934 S596P possibly damaging Het
Syt14 T C 1: 192,901,934 *78W probably null Het
Thoc1 A G 18: 9,970,258 T203A probably benign Het
Trmt13 A G 3: 116,592,191 probably null Het
Ttc28 A G 5: 111,225,850 I1020V probably damaging Het
Vmn2r16 A G 5: 109,340,268 T336A probably damaging Het
Other mutations in Rab23
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0309:Rab23 UTSW 1 33734861 splice site probably null
R0798:Rab23 UTSW 1 33734827 missense probably damaging 0.99
R1549:Rab23 UTSW 1 33738297 missense possibly damaging 0.91
R1668:Rab23 UTSW 1 33734854 nonsense probably null
R1976:Rab23 UTSW 1 33723938 missense probably damaging 0.99
R2240:Rab23 UTSW 1 33739325 missense probably benign
R2866:Rab23 UTSW 1 33738295 missense possibly damaging 0.75
R4476:Rab23 UTSW 1 33724892 intron probably benign
R4614:Rab23 UTSW 1 33739385 missense probably benign 0.01
R5884:Rab23 UTSW 1 33724886 intron probably benign
R5939:Rab23 UTSW 1 33723909 missense probably damaging 1.00
R7567:Rab23 UTSW 1 33734731 missense possibly damaging 0.91
X0018:Rab23 UTSW 1 33738336 missense probably benign
Posted On2015-04-16