Incidental Mutation 'R9418:Rab23'
ID 712144
Institutional Source Beutler Lab
Gene Symbol Rab23
Ensembl Gene ENSMUSG00000004768
Gene Name RAB23, member RAS oncogene family
Synonyms
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9418 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 33758968-33781645 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 33777424 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Aspartic acid at position 179 (E179D)
Ref Sequence ENSEMBL: ENSMUSP00000085625 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000088287] [ENSMUST00000115174] [ENSMUST00000138024]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000088287
AA Change: E179D

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000085625
Gene: ENSMUSG00000004768
AA Change: E179D

DomainStartEndE-ValueType
RAB 10 172 7.79e-58 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000115174
AA Change: E179D

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000110828
Gene: ENSMUSG00000004768
AA Change: E179D

DomainStartEndE-ValueType
RAB 10 172 7.79e-58 SMART
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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A430033K04Rik G A 5: 138,645,317 (GRCm39) G401R probably damaging Het
Adgrf5 G A 17: 43,737,864 (GRCm39) V233I probably benign Het
Ankrd34b A G 13: 92,575,232 (GRCm39) K155E probably damaging Het
Btbd16 C T 7: 130,417,516 (GRCm39) R344C probably damaging Het
Ccdc141 A T 2: 76,871,766 (GRCm39) H839Q probably benign Het
Ccdc18 T C 5: 108,303,669 (GRCm39) L251P probably damaging Het
Ciita G T 16: 10,319,765 (GRCm39) E63* probably null Het
Cmya5 T C 13: 93,226,209 (GRCm39) T2960A probably benign Het
Cyp2b13 A T 7: 25,761,110 (GRCm39) I56F probably benign Het
Dcaf4 A T 12: 83,586,606 (GRCm39) Y422F probably benign Het
Dhrs7b A T 11: 60,746,594 (GRCm39) I228F probably damaging Het
Drosha T C 15: 12,885,167 (GRCm39) S853P probably benign Het
Dzank1 C T 2: 144,355,408 (GRCm39) V96M probably damaging Het
Fap G A 2: 62,385,181 (GRCm39) Q65* probably null Het
Fbxo47 T A 11: 97,747,067 (GRCm39) N333I possibly damaging Het
Fem1al C T 11: 29,774,632 (GRCm39) C275Y probably damaging Het
Fktn G A 4: 53,734,854 (GRCm39) G125D probably benign Het
Gpr171 T C 3: 59,004,999 (GRCm39) T259A possibly damaging Het
Hectd2 T A 19: 36,589,574 (GRCm39) S595T probably benign Het
Hexa A G 9: 59,464,592 (GRCm39) I161V probably benign Het
Hira A G 16: 18,770,025 (GRCm39) T777A probably benign Het
Il2ra T C 2: 11,689,203 (GRCm39) F244S possibly damaging Het
Kcne3 A G 7: 99,833,385 (GRCm39) M1V probably null Het
Kcnj1 G A 9: 32,308,203 (GRCm39) C209Y probably damaging Het
Kcnj2 A T 11: 110,963,357 (GRCm39) I250F probably damaging Het
Krt26 C T 11: 99,228,741 (GRCm39) probably benign Het
Leng9 T C 7: 4,151,354 (GRCm39) T441A probably benign Het
Lingo2 T C 4: 35,709,035 (GRCm39) H315R probably benign Het
Lrrc7 A T 3: 157,908,023 (GRCm39) S266T possibly damaging Het
Mab21l4 A C 1: 93,087,710 (GRCm39) L48V probably benign Het
Mib1 A G 18: 10,812,064 (GRCm39) D987G probably damaging Het
Mrc1 T C 2: 14,234,358 (GRCm39) V12A probably benign Het
Mta1 G T 12: 113,094,987 (GRCm39) R415L probably damaging Het
Mug2 T A 6: 122,017,700 (GRCm39) V479E probably benign Het
Mylk3 C A 8: 86,091,444 (GRCm39) M120I possibly damaging Het
Or13c7c C T 4: 43,835,879 (GRCm39) V204M probably benign Het
Or2v2 G T 11: 49,004,484 (GRCm39) P23Q probably benign Het
Otog A T 7: 45,938,024 (GRCm39) Q1911L probably benign Het
Pcdh20 C T 14: 88,705,455 (GRCm39) C615Y probably benign Het
Pde1b A G 15: 103,433,464 (GRCm39) H294R probably damaging Het
Phldb3 A T 7: 24,328,354 (GRCm39) I633F probably damaging Het
Pigt CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT 2: 164,341,589 (GRCm39) probably null Het
Pip5k1b A G 19: 24,327,581 (GRCm39) V425A probably benign Het
Pramel39-ps G T 5: 94,451,001 (GRCm39) P375H probably damaging Het
Slc12a6 C A 2: 112,174,555 (GRCm39) L522I Het
Slc22a19 A T 19: 7,660,210 (GRCm39) M400K possibly damaging Het
Slc4a11 C T 2: 130,533,664 (GRCm39) A100T probably damaging Het
Spsb2 C A 6: 124,786,282 (GRCm39) A5D probably damaging Het
Tgfb1 A G 7: 25,391,952 (GRCm39) E169G probably damaging Het
Tm4sf5 T A 11: 70,401,134 (GRCm39) C117S probably damaging Het
Tmcc3 T C 10: 94,415,087 (GRCm39) L294P possibly damaging Het
Ubc T C 5: 125,464,466 (GRCm39) Y287C probably damaging Het
Uroc1 G T 6: 90,313,880 (GRCm39) V56F probably benign Het
Ush1c A T 7: 45,872,292 (GRCm39) F237I probably damaging Het
Xxylt1 A T 16: 30,826,624 (GRCm39) Y230* probably null Het
Zfp467 A T 6: 48,415,990 (GRCm39) C221S probably damaging 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
R0798:Rab23 UTSW 1 33,773,908 (GRCm39) missense probably damaging 0.99
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
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'- ACTGCACTGCACTTCTCAG -3'
(R):5'- TCACCGAGCTCAGTAATCATG -3'

Sequencing Primer
(F):5'- GACTTGAACTCAGGACCTTCGTAAG -3'
(R):5'- CATGACTTAACCCAGAGTTCTTACAG -3'
Posted On 2022-05-16