Incidental Mutation 'R0798:Rab23'
ID 76474
Institutional Source Beutler Lab
Gene Symbol Rab23
Ensembl Gene ENSMUSG00000004768
Gene Name RAB23, member RAS oncogene family
Synonyms
MMRRC Submission 038978-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0798 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 33758968-33781645 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 33773908 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 123 (I123F)
Ref Sequence ENSEMBL: ENSMUSP00000110828 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000088287] [ENSMUST00000115174] [ENSMUST00000138024]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000088287
AA Change: I123F

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000085625
Gene: ENSMUSG00000004768
AA Change: I123F

DomainStartEndE-ValueType
RAB 10 172 7.79e-58 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000115174
AA Change: I123F

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000110828
Gene: ENSMUSG00000004768
AA Change: I123F

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
Meta Mutation Damage Score 0.2293 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.4%
  • 20x: 95.2%
Validation Efficiency 100% (30/30)
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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010315B03Rik T C 9: 124,057,789 (GRCm39) probably benign Het
4930579C12Rik T A 9: 89,034,880 (GRCm39) noncoding transcript Het
Baz2a T A 10: 127,962,192 (GRCm39) probably benign Het
Bcar3 T C 3: 122,318,948 (GRCm39) V695A probably benign Het
C130074G19Rik G A 1: 184,614,873 (GRCm39) probably benign Het
Cmas T C 6: 142,710,382 (GRCm39) V167A probably damaging Het
Crppa G A 12: 36,571,998 (GRCm39) R302H probably benign Het
Cyp3a25 T C 5: 145,928,343 (GRCm39) E234G probably damaging Het
Gopc C T 10: 52,234,907 (GRCm39) G79S probably damaging Het
Herc2 T A 7: 55,785,431 (GRCm39) probably null Het
Iqca1 C A 1: 90,070,453 (GRCm39) G133V probably null Het
Kcnq5 A G 1: 22,031,399 (GRCm39) probably null Het
Lpp G T 16: 24,790,622 (GRCm39) G29* probably null Het
Ly6g6e T C 17: 35,297,017 (GRCm39) F86S probably benign Het
Myo5c T C 9: 75,165,266 (GRCm39) F358S probably damaging Het
Nlgn1 A G 3: 25,488,410 (GRCm39) Y613H probably benign Het
Or4k38 T C 2: 111,165,689 (GRCm39) I245V probably benign Het
Or7e178 A T 9: 20,225,495 (GRCm39) Y232* probably null Het
Plekhn1 T A 4: 156,312,720 (GRCm39) D46V probably damaging Het
Ptp4a1 A T 1: 30,984,005 (GRCm39) probably benign Het
Samd4b G A 7: 28,101,048 (GRCm39) probably benign Het
Shisa4 G A 1: 135,300,886 (GRCm39) probably benign Het
Slc39a11 C T 11: 113,414,330 (GRCm39) A90T probably benign Het
Tas1r2 T C 4: 139,397,024 (GRCm39) Y788H probably damaging Het
Tasor T A 14: 27,198,593 (GRCm39) F1308L probably damaging Het
Tial1 C T 7: 128,045,602 (GRCm39) M327I probably benign Het
Ubr2 C T 17: 47,280,102 (GRCm39) probably benign Het
Utp4 T C 8: 107,648,858 (GRCm39) S630P probably benign Het
Vmn1r212 T C 13: 23,067,868 (GRCm39) N155S probably damaging Het
Zmym6 C T 4: 126,997,316 (GRCm39) P312S probably benign Het
Other mutations in Rab23
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02531:Rab23 APN 1 33,777,361 (GRCm39) splice site probably benign
R0309:Rab23 UTSW 1 33,773,942 (GRCm39) splice site probably null
R1549:Rab23 UTSW 1 33,777,378 (GRCm39) missense possibly damaging 0.91
R1668:Rab23 UTSW 1 33,773,935 (GRCm39) nonsense probably null
R1976:Rab23 UTSW 1 33,763,019 (GRCm39) missense probably damaging 0.99
R2240:Rab23 UTSW 1 33,778,406 (GRCm39) missense probably benign
R2866:Rab23 UTSW 1 33,777,376 (GRCm39) missense possibly damaging 0.75
R4476:Rab23 UTSW 1 33,763,973 (GRCm39) intron probably benign
R4614:Rab23 UTSW 1 33,778,466 (GRCm39) missense probably benign 0.01
R5884:Rab23 UTSW 1 33,763,967 (GRCm39) intron probably benign
R5939:Rab23 UTSW 1 33,762,990 (GRCm39) missense probably damaging 1.00
R7567:Rab23 UTSW 1 33,773,812 (GRCm39) missense possibly damaging 0.91
R9418:Rab23 UTSW 1 33,777,424 (GRCm39) missense probably benign 0.00
R9614:Rab23 UTSW 1 33,764,077 (GRCm39) frame shift probably null
X0018:Rab23 UTSW 1 33,777,417 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- GTGAAAGTTGTCTTTGTCCATGCCC -3'
(R):5'- AGGAGAAGCATGTCAGTCCACCTAC -3'

Sequencing Primer
(F):5'- CTGCACACAGTCACTTTGTCAATC -3'
(R):5'- GTCAGTCCACCTACGGTCC -3'
Posted On 2013-10-16