Mutagenetix > Incidental Mutation

Incidental Mutation 'R9614:Rab23'

724415

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 #

R9614 (G1)

Quality Score

217.468

Status

Not validated

Chromosome

Chromosomal Location

33758968-33781645 bp(+) (GRCm39)

Type of Mutation

frame shift

DNA Base Change (assembly)

CAA to CA at 33764077 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

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 null
Transcript: ENSMUST00000088287

SMART Domains

Protein: ENSMUSP00000085625
Gene: ENSMUSG00000004768

Domain	Start	End	E-Value	Type
RAB	10	172	7.79e-58	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000115174

SMART Domains

Protein: ENSMUSP00000110828
Gene: ENSMUSG00000004768

Domain	Start	End	E-Value	Type
RAB	10	172	7.79e-58	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000138024

SMART Domains

Protein: ENSMUSP00000137896
Gene: ENSMUSG00000004768

Domain	Start	End	E-Value	Type
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: 99.6%
20x: 98.9%

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810055G02Rik	C	T	19: 3,767,364 (GRCm39)	T317I	possibly damaging	Het
Adamts7	T	A	9: 90,077,251 (GRCm39)	V1306E	probably damaging	Het
Adcy9	C	T	16: 4,106,547 (GRCm39)	D1093N	probably damaging	Het
Adgra3	A	G	5: 50,164,250 (GRCm39)	V243A	probably damaging	Het
Aqp4	C	T	18: 15,526,687 (GRCm39)	A265T	probably benign	Het
Atad2	A	T	15: 57,970,119 (GRCm39)		probably null	Het
Atp13a4	A	G	16: 29,260,398 (GRCm39)	V560A		Het
Best2	A	C	8: 85,740,051 (GRCm39)	C38G		Het
Bicra	A	T	7: 15,705,880 (GRCm39)	S1520R	probably damaging	Het
C1s2	A	G	6: 124,602,588 (GRCm39)	L541P	probably damaging	Het
Calcoco2	T	A	11: 95,991,185 (GRCm39)	H184L	probably benign	Het
Cav1	A	T	6: 17,339,403 (GRCm39)	I163F	probably benign	Het
Cep57l1	T	C	10: 41,597,563 (GRCm39)	H356R	probably damaging	Het
Clu	A	C	14: 66,208,851 (GRCm39)	H32P	unknown	Het
Col5a1	T	A	2: 27,879,186 (GRCm39)	D840E	unknown	Het
Cramp1	C	A	17: 25,201,783 (GRCm39)	K566N	probably damaging	Het
Csmd1	C	A	8: 16,208,239 (GRCm39)	V1239L	probably benign	Het
Cubn	T	A	2: 13,482,945 (GRCm39)	Q267L	probably benign	Het
Cul7	C	T	17: 46,975,212 (GRCm39)	R1689W	probably damaging	Het
Dao	A	T	5: 114,152,060 (GRCm39)	D126V	probably benign	Het
Eif3l	T	C	15: 78,978,423 (GRCm39)	M560T	probably benign	Het
F830016B08Rik	T	A	18: 60,433,379 (GRCm39)	I154N	probably damaging	Het
Fam184a	T	C	10: 53,517,144 (GRCm39)	E980G	probably damaging	Het
Fgf21	T	C	7: 45,264,703 (GRCm39)	T10A	probably benign	Het
Fhad1	A	C	4: 141,678,882 (GRCm39)	V598G	possibly damaging	Het
Foxc1	A	T	13: 31,991,863 (GRCm39)	I225F	possibly damaging	Het
Foxo3	C	T	10: 42,073,021 (GRCm39)	V499M	probably damaging	Het
Galnt9	G	A	5: 110,744,047 (GRCm39)	G294S	probably damaging	Het
Gp5	A	C	16: 30,128,393 (GRCm39)	F94V	probably damaging	Het
Idh2	A	T	7: 79,747,925 (GRCm39)	Y258*	probably null	Het
Immp2l	T	C	12: 41,160,933 (GRCm39)	V77A	probably damaging	Het
Isl1	T	C	13: 116,441,924 (GRCm39)	E103G		Het
Itgad	A	T	7: 127,803,022 (GRCm39)	T1059S	probably damaging	Het
Kcnj6	G	A	16: 94,633,307 (GRCm39)	T268I	probably damaging	Het
Lgals3bp	A	G	11: 118,284,037 (GRCm39)	V514A	probably benign	Het
Mcfd2	A	T	17: 87,565,421 (GRCm39)	H27Q	probably benign	Het
Mettl13	A	G	1: 162,364,769 (GRCm39)	W537R	probably damaging	Het
Mybl2	G	T	2: 162,906,225 (GRCm39)	G102V	probably damaging	Het
Nars2	C	T	7: 96,689,125 (GRCm39)	T349M	probably damaging	Het
Nat8f3	A	T	6: 85,738,708 (GRCm39)	V18E		Het
Npepps	T	C	11: 97,149,177 (GRCm39)	E115G	probably benign	Het
Odad3	T	C	9: 21,904,310 (GRCm39)	D322G	probably benign	Het
Oog2	T	A	4: 143,922,707 (GRCm39)	V324E	probably damaging	Het
Or2y12	T	A	11: 49,426,071 (GRCm39)	W20R	probably damaging	Het
Or7g12	A	T	9: 18,899,526 (GRCm39)	M81L	possibly damaging	Het
Or8d2b	G	A	9: 38,789,281 (GRCm39)	V270M	probably damaging	Het
Or8j3b	A	G	2: 86,205,012 (GRCm39)	V248A	probably damaging	Het
Pdzd2	A	G	15: 12,375,486 (GRCm39)	S1550P	probably damaging	Het
Peg10	T	TCCC	6: 4,756,451 (GRCm39)		probably benign	Het
Pms2	T	C	5: 143,854,420 (GRCm39)	V243A	probably benign	Het
Ptpn9	A	G	9: 56,944,005 (GRCm39)	D293G	probably benign	Het
Ptprb	A	G	10: 116,203,441 (GRCm39)	K1784R	probably damaging	Het
Raf1	T	C	6: 115,596,597 (GRCm39)	N576D	probably benign	Het
Rasa4	C	A	5: 136,140,343 (GRCm39)	H782Q	possibly damaging	Het
Rims1	C	A	1: 22,491,969 (GRCm39)	E168*	probably null	Het
Rpgrip1l	A	T	8: 91,987,434 (GRCm39)	N874K	possibly damaging	Het
Rxfp4	C	T	3: 88,559,969 (GRCm39)	V161I	possibly damaging	Het
Scel	G	A	14: 103,843,032 (GRCm39)	G558D	probably damaging	Het
Sipa1l2	T	C	8: 126,196,565 (GRCm39)	K723R	probably null	Het
Slc12a1	A	T	2: 125,002,445 (GRCm39)	R142W	probably damaging	Het
Slc27a2	T	A	2: 126,409,736 (GRCm39)	V306D	probably damaging	Het
Sox4	C	T	13: 29,136,079 (GRCm39)	G309D	probably damaging	Het
Terb1	T	C	8: 105,223,476 (GRCm39)	T111A	probably benign	Het
Tgfa	G	A	6: 86,248,397 (GRCm39)	R133H	probably damaging	Het
Ticrr	T	C	7: 79,345,754 (GRCm39)	S1836P	probably damaging	Het
Tlk2	A	G	11: 105,138,328 (GRCm39)	D292G	probably benign	Het
Tmc7	A	G	7: 118,141,160 (GRCm39)	I657T	probably benign	Het
Tmprss11c	G	A	5: 86,383,379 (GRCm39)	T349I	probably benign	Het
Trhr	A	G	15: 44,060,981 (GRCm39)	N167S	probably benign	Het
Tsc22d1	T	G	14: 76,653,983 (GRCm39)	I154S	probably damaging	Het
Vmn1r2	T	C	4: 3,172,587 (GRCm39)	Y169H	probably damaging	Het
Vmn1r77	G	T	7: 11,775,766 (GRCm39)	V181L	probably benign	Het

Other mutations in Rab23

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
R9418:Rab23	UTSW	1	33,777,424 (GRCm39)	missense	probably benign	0.00
X0018:Rab23	UTSW	1	33,777,417 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- ATTGCACTCCGGGAATCAGC -3'
(R):5'- AACACTATGTTTGGTATTGCTGTCCTC -3'

Sequencing Primer
(F):5'- AGCCACAGAGCTTTCAGACTTTTG -3'
(R):5'- AATGCCCTCTGTGATGGAGAC -3'

Posted On

2022-09-12