Incidental Mutation 'R4614:Rab23'
ID 344903
Institutional Source Beutler Lab
Gene Symbol Rab23
Ensembl Gene ENSMUSG00000004768
Gene Name RAB23, member RAS oncogene family
Synonyms
MMRRC Submission 041825-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4614 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 33758968-33781645 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 33778466 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 236 (V236A)
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 benign
Transcript: ENSMUST00000088287
AA Change: V236A

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000085625
Gene: ENSMUSG00000004768
AA Change: V236A

DomainStartEndE-ValueType
RAB 10 172 7.79e-58 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000115174
AA Change: V236A

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000110828
Gene: ENSMUSG00000004768
AA Change: V236A

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 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.2%
Validation Efficiency 98% (95/97)
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: 88 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik T G 13: 77,402,375 (GRCm39) probably null Het
4932414N04Rik C A 2: 68,575,804 (GRCm39) T701K probably benign Het
Abcb11 A T 2: 69,115,025 (GRCm39) H640Q possibly damaging Het
Ago2 C T 15: 73,002,816 (GRCm39) V139M probably damaging Het
Apol11a A T 15: 77,400,772 (GRCm39) K86N probably benign Het
Ass1 T C 2: 31,404,795 (GRCm39) Y359H probably damaging Het
Bpifa3 A T 2: 153,978,200 (GRCm39) N34I probably damaging Het
Brwd1 A T 16: 95,848,559 (GRCm39) L540H probably damaging Het
C3ar1 G A 6: 122,827,680 (GRCm39) S179F probably benign Het
Ccnb1ip1 T C 14: 51,029,652 (GRCm39) T137A probably benign Het
Cd5l A G 3: 87,275,926 (GRCm39) T299A probably benign Het
Cdk12 T A 11: 98,140,603 (GRCm39) probably benign Het
Cep290 T C 10: 100,344,602 (GRCm39) M480T probably benign Het
Cep290 G A 10: 100,395,549 (GRCm39) R2112K possibly damaging Het
Chn2 G A 6: 54,267,388 (GRCm39) M292I probably damaging Het
Cic TCCCCC TCCCCCCC 7: 24,991,095 (GRCm39) probably null Het
Cpeb1 A T 7: 81,086,018 (GRCm39) D41E possibly damaging Het
Csf2rb2 C G 15: 78,175,902 (GRCm39) C184S probably damaging Het
Ctsc G A 7: 87,927,583 (GRCm39) probably null Het
Cyp2c40 G A 19: 39,792,300 (GRCm39) S191L probably damaging Het
Dagla T C 19: 10,225,641 (GRCm39) E841G probably damaging Het
Dld A T 12: 31,383,944 (GRCm39) Y386* probably null Het
Dpp8 G A 9: 64,973,678 (GRCm39) S634N probably benign Het
Duox2 A T 2: 122,120,038 (GRCm39) V824E probably damaging Het
Dync2h1 A C 9: 7,011,290 (GRCm39) S3634R probably benign Het
Eef1d T C 15: 75,775,425 (GRCm39) N78S probably benign Het
Fcrl5 T A 3: 87,355,733 (GRCm39) I482N probably damaging Het
Fezf1 A T 6: 23,247,857 (GRCm39) C73S possibly damaging Het
Fgfr1 A G 8: 26,047,813 (GRCm39) D53G probably benign Het
Fmn1 T C 2: 113,195,494 (GRCm39) L398S unknown Het
Gm17175 T C 14: 51,809,042 (GRCm39) Q108R probably benign Het
Gm28042 G A 2: 119,871,639 (GRCm39) G669D probably damaging Het
Gm6185 A G 1: 161,050,669 (GRCm39) noncoding transcript Het
Gucy2g A T 19: 55,190,579 (GRCm39) C1018* probably null Het
H2-Q10 A T 17: 35,784,917 (GRCm39) probably benign Het
H2-T22 T G 17: 36,351,429 (GRCm39) Q267P probably benign Het
Hibadh A G 6: 52,523,915 (GRCm39) Y328H possibly damaging Het
Hsd3b3 T A 3: 98,649,396 (GRCm39) Y309F probably benign Het
Ighv1-37 C T 12: 114,859,863 (GRCm39) A116T probably benign Het
Ighv1-82 T C 12: 115,916,280 (GRCm39) T77A probably benign Het
Igkv8-21 A T 6: 70,292,141 (GRCm39) S34T probably benign Het
Insyn1 AGAGGAGGAGGAGGAGG AGAGGAGGAGGAGG 9: 58,406,715 (GRCm39) probably benign Het
Iqch A G 9: 63,389,863 (GRCm39) M733T probably benign Het
Jakmip2 T A 18: 43,695,657 (GRCm39) D539V probably damaging Het
Lgi2 A G 5: 52,695,775 (GRCm39) S395P probably damaging Het
Lrrc40 A T 3: 157,760,271 (GRCm39) N344I probably damaging Het
Ltbp1 G A 17: 75,596,989 (GRCm39) probably benign Het
Metap1d C T 2: 71,355,292 (GRCm39) P332L probably benign Het
Mfap4 C A 11: 61,376,335 (GRCm39) probably benign Het
Mis18bp1 T A 12: 65,200,303 (GRCm39) probably benign Het
Mta2 T C 19: 8,925,492 (GRCm39) probably null Het
Mtmr4 T C 11: 87,501,761 (GRCm39) L548S probably damaging Het
Muc4 A G 16: 32,577,432 (GRCm39) K241E probably benign Het
Mup18 T A 4: 61,590,154 (GRCm39) I125F possibly damaging Het
Nfs1 A G 2: 155,985,970 (GRCm39) S31P probably benign Het
Or10g6 T A 9: 39,934,255 (GRCm39) C189S probably damaging Het
Or10z1 A G 1: 174,078,188 (GRCm39) F102L possibly damaging Het
Or2f1b G T 6: 42,739,352 (GRCm39) R122L probably benign Het
Otogl A T 10: 107,727,985 (GRCm39) C245* probably null Het
Pcdhb16 G A 18: 37,613,398 (GRCm39) G786D probably benign Het
Pdcd5 C T 7: 35,346,472 (GRCm39) probably benign Het
Phkg2 C T 7: 127,176,792 (GRCm39) R61W probably damaging Het
Piezo1 A T 8: 123,213,150 (GRCm39) I1871N probably benign Het
Pkd2l1 C A 19: 44,142,573 (GRCm39) A490S probably damaging Het
Plxnd1 T C 6: 115,949,486 (GRCm39) T767A possibly damaging Het
Polr3c T G 3: 96,623,787 (GRCm39) I322L probably benign Het
Ppp1r26 C A 2: 28,340,860 (GRCm39) H163Q probably benign Het
Prox1 T G 1: 189,894,205 (GRCm39) Y80S probably damaging Het
Pygl T C 12: 70,257,753 (GRCm39) probably null Het
Setd2 T C 9: 110,398,881 (GRCm39) probably null Het
Slc5a7 A G 17: 54,583,587 (GRCm39) S568P probably benign Het
Smpd3 A G 8: 106,986,371 (GRCm39) L477P probably damaging Het
Spg21 A G 9: 65,387,671 (GRCm39) probably null Het
Spta1 A T 1: 174,020,543 (GRCm39) I551F probably damaging Het
Supt5 A T 7: 28,025,397 (GRCm39) I135N possibly damaging Het
Tacstd2 A G 6: 67,512,170 (GRCm39) F174S probably damaging Het
Tas1r2 A T 4: 139,387,098 (GRCm39) T186S probably damaging Het
Tie1 A G 4: 118,336,248 (GRCm39) Y673H probably damaging Het
Tom1l1 A T 11: 90,561,952 (GRCm39) N190K probably damaging Het
Tox2 T C 2: 163,162,567 (GRCm39) L479P probably damaging Het
Tox4 C T 14: 52,524,924 (GRCm39) T249I probably damaging Het
Trmt1l C T 1: 151,329,799 (GRCm39) Q581* probably null Het
Vmn1r49 A G 6: 90,049,534 (GRCm39) V156A probably benign Het
Vmn2r13 A T 5: 109,323,065 (GRCm39) F75I probably benign Het
Washc2 T A 6: 116,215,135 (GRCm39) S502T possibly damaging Het
Wnk4 A T 11: 101,164,937 (GRCm39) E755D probably benign Het
Zfp207 T A 11: 80,286,016 (GRCm39) probably benign Het
Zfp352 A G 4: 90,113,318 (GRCm39) K486R 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
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
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'- CAGAGGTACTGGCTTCTCTG -3'
(R):5'- GTAATTCTCCAGCAGAGGGC -3'

Sequencing Primer
(F):5'- TCAATGATAACACATGACAGGTGAC -3'
(R):5'- CGCCATCTACATTCTGAGGAG -3'
Posted On 2015-09-25