Incidental Mutation 'R1668:Rab23'
ID 187328
Institutional Source Beutler Lab
Gene Symbol Rab23
Ensembl Gene ENSMUSG00000004768
Gene Name RAB23, member RAS oncogene family
Synonyms
MMRRC Submission 039704-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1668 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 33758968-33781645 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 33773935 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Stop codon at position 132 (K132*)
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 null
Transcript: ENSMUST00000088287
AA Change: K132*
SMART Domains Protein: ENSMUSP00000085625
Gene: ENSMUSG00000004768
AA Change: K132*

DomainStartEndE-ValueType
RAB 10 172 7.79e-58 SMART
Predicted Effect probably null
Transcript: ENSMUST00000115174
AA Change: K132*
SMART Domains Protein: ENSMUSP00000110828
Gene: ENSMUSG00000004768
AA Change: K132*

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
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.0%
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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adra2c T C 5: 35,437,641 (GRCm39) S138P probably damaging Het
Appl1 A C 14: 26,645,811 (GRCm39) S666R probably damaging Het
Arhgap45 A G 10: 79,864,584 (GRCm39) S879G possibly damaging Het
Calcoco2 T C 11: 95,993,563 (GRCm39) M140V probably benign Het
Cap2 C A 13: 46,768,799 (GRCm39) H147N probably damaging Het
Chd9 A T 8: 91,767,814 (GRCm39) H2437L probably damaging Het
Col5a3 A G 9: 20,682,392 (GRCm39) I1684T unknown Het
Comp A T 8: 70,831,607 (GRCm39) probably null Het
Cyp2c50 A T 19: 40,079,499 (GRCm39) M198L probably benign Het
Dnaaf2 A G 12: 69,243,465 (GRCm39) V532A probably benign Het
Dnah10 A T 5: 124,842,626 (GRCm39) Q1358L probably benign Het
Dop1b T A 16: 93,562,404 (GRCm39) S832T probably damaging Het
Dus3l T G 17: 57,073,912 (GRCm39) F162C possibly damaging Het
Epb41l4a A G 18: 34,054,962 (GRCm39) L42P probably damaging Het
Ercc5 T A 1: 44,206,193 (GRCm39) S369T probably benign Het
Fbxl2 C T 9: 113,818,214 (GRCm39) V211M probably benign Het
Fermt3 A G 19: 6,996,060 (GRCm39) V45A probably damaging Het
Frs3 C A 17: 48,014,147 (GRCm39) P280Q possibly damaging Het
Fxn A G 19: 24,239,377 (GRCm39) Y172H probably damaging Het
Gabpa T C 16: 84,643,069 (GRCm39) V122A probably damaging Het
Gsta4 A G 9: 78,111,570 (GRCm39) T66A probably benign Het
Hsdl2 C T 4: 59,612,697 (GRCm39) T296M probably damaging Het
Kank4 T C 4: 98,667,133 (GRCm39) N438S probably damaging Het
Krt24 A G 11: 99,175,444 (GRCm39) I197T probably benign Het
Lct T C 1: 128,215,459 (GRCm39) probably null Het
Lsmem1 GTACATACATACATACATACATACATACA GTACATACATACATACATACATACATACATACA 12: 40,235,260 (GRCm39) probably null Het
Mc4r A G 18: 66,992,480 (GRCm39) L211P probably damaging Het
Mfsd4b5 T C 10: 39,849,687 (GRCm39) T111A probably damaging Het
Mgat5b T A 11: 116,874,474 (GRCm39) N635K probably benign Het
Mms19 A T 19: 41,940,995 (GRCm39) M443K possibly damaging Het
Morc2a G A 11: 3,625,885 (GRCm39) V162M probably benign Het
Mroh5 T C 15: 73,659,754 (GRCm39) N359S probably benign Het
Mroh9 T C 1: 162,852,161 (GRCm39) I843V possibly damaging Het
Nbeal2 T C 9: 110,467,961 (GRCm39) D436G probably damaging Het
Nbr1 A G 11: 101,460,592 (GRCm39) D502G probably benign Het
Ngfr C T 11: 95,478,371 (GRCm39) G5D probably damaging Het
Nlrc4 G A 17: 74,752,901 (GRCm39) T494M probably damaging Het
Notch3 T A 17: 32,377,563 (GRCm39) H171L probably damaging Het
Nsmaf A G 4: 6,398,880 (GRCm39) L795P probably damaging Het
Nup210 T C 6: 91,005,787 (GRCm39) T616A possibly damaging Het
Or10d5 C A 9: 39,861,465 (GRCm39) V201L possibly damaging Het
Or1j18 T A 2: 36,625,204 (GRCm39) Y290* probably null Het
Or5ak25 T A 2: 85,269,220 (GRCm39) Y94F probably benign Het
Or5b113 A C 19: 13,342,234 (GRCm39) M81L probably benign Het
Osbpl5 T C 7: 143,262,776 (GRCm39) H192R probably damaging Het
Parp2 G A 14: 51,058,313 (GRCm39) R486Q probably benign Het
Pcgf6 G A 19: 47,028,544 (GRCm39) A286V probably damaging Het
Pla2r1 T C 2: 60,258,990 (GRCm39) T1133A probably damaging Het
Plekha2 T C 8: 25,562,070 (GRCm39) N48S probably damaging Het
Pole T G 5: 110,445,235 (GRCm39) S461A probably damaging Het
Ppfibp2 T C 7: 107,329,099 (GRCm39) L536P probably damaging Het
Prkcz G T 4: 155,374,208 (GRCm39) F69L probably damaging Het
Prkd1 G A 12: 50,441,709 (GRCm39) H277Y probably damaging Het
Rbck1 T A 2: 152,158,819 (GRCm39) S488C probably damaging Het
Rbl1 T C 2: 157,001,654 (GRCm39) Y878C probably damaging Het
Rpn2 C T 2: 157,136,075 (GRCm39) T161M possibly damaging Het
Rufy4 G A 1: 74,186,837 (GRCm39) V542I probably benign Het
Serpinb3d A G 1: 107,008,481 (GRCm39) V128A probably benign Het
Smarca2 A G 19: 26,624,434 (GRCm39) I365V possibly damaging Het
Spata31f1a G T 4: 42,848,424 (GRCm39) T1244K probably damaging Het
Sptb A G 12: 76,667,943 (GRCm39) V718A probably benign Het
Susd4 A G 1: 182,686,128 (GRCm39) H226R probably benign Het
Tmem151b T C 17: 45,856,831 (GRCm39) Y203C probably damaging Het
Tmppe T C 9: 114,233,968 (GRCm39) V89A possibly damaging Het
Trappc6b A T 12: 59,094,907 (GRCm39) probably null Het
Ube4b A T 4: 149,445,751 (GRCm39) M433K probably benign Het
Vmn1r202 A T 13: 22,685,540 (GRCm39) D292E possibly damaging Het
Vmn1r22 A G 6: 57,877,704 (GRCm39) M91T probably benign Het
Vmn1r43 T C 6: 89,846,683 (GRCm39) I268V probably benign Het
Vmn1r49 T A 6: 90,049,764 (GRCm39) R79S probably benign Het
Vmn2r14 T A 5: 109,366,913 (GRCm39) K436* probably null Het
Wdr72 A G 9: 74,117,444 (GRCm39) S719G probably damaging Het
Zfp526 T C 7: 24,924,967 (GRCm39) F409L probably benign Het
Zfp804b A C 5: 6,821,323 (GRCm39) L580R possibly damaging Het
Zfp977 T C 7: 42,230,070 (GRCm39) T152A probably benign Het
Zyx T A 6: 42,332,966 (GRCm39) V372E possibly 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
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'- ACACAGTCACTTTGTCAATCTGG -3'
(R):5'- GTCAGTCCACCTACGGTCC -3'
Posted On 2014-05-09