Mutagenetix > Incidental Mutation

Incidental Mutation 'R9416:Rab24'

712063

Institutional Source

Beutler Lab

Gene Symbol

Rab24

Ensembl Gene

ENSMUSG00000034789

Gene Name

RAB24, member RAS oncogene family

Synonyms

6530406O07Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9416 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

55467556-55469759 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 55468049 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 33 (V33A)

Ref Sequence

ENSEMBL: ENSMUSP00000153246 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021941] [ENSMUST00000021942] [ENSMUST00000035242] [ENSMUST00000099490] [ENSMUST00000224685] [ENSMUST00000224973]

AlphaFold

P35290

Predicted Effect

probably benign
Transcript: ENSMUST00000021941

SMART Domains

Protein: ENSMUSP00000021941
Gene: ENSMUSG00000021485

Domain	Start	End	E-Value	Type
low complexity region	11	26	N/A	INTRINSIC
HLH	63	115	5.8e-11	SMART
low complexity region	119	138	N/A	INTRINSIC
low complexity region	148	167	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000021942

SMART Domains

Protein: ENSMUSP00000021942
Gene: ENSMUSG00000021486

Domain	Start	End	E-Value	Type
Pfam:PRELI	16	172	1.9e-61	PFAM
coiled coil region	178	215	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000035242

SMART Domains

Protein: ENSMUSP00000046188
Gene: ENSMUSG00000034789

Domain	Start	End	E-Value	Type
RAB	8	175	2.39e-44	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000099490

SMART Domains

Protein: ENSMUSP00000097089
Gene: ENSMUSG00000021488

Domain	Start	End	E-Value	Type
low complexity region	177	187	N/A	INTRINSIC
low complexity region	281	289	N/A	INTRINSIC
PWWP	322	388	1.97e-3	SMART
low complexity region	635	644	N/A	INTRINSIC
low complexity region	980	1000	N/A	INTRINSIC
low complexity region	1296	1309	N/A	INTRINSIC
PHD	1546	1588	4.25e-8	SMART
PHD	1593	1640	3.79e-5	SMART
RING	1594	1639	1.08e-1	SMART
PHD	1641	1694	1.09e1	SMART
PHD	1710	1750	1.02e-10	SMART
PWWP	1755	1817	8.87e-29	SMART
AWS	1891	1942	3.02e-22	SMART
SET	1943	2066	1e-45	SMART
PostSET	2067	2083	3.99e-3	SMART
PHD	2121	2164	1.08e-9	SMART
low complexity region	2224	2237	N/A	INTRINSIC
low complexity region	2276	2286	N/A	INTRINSIC
low complexity region	2335	2356	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000224685
AA Change: V33A

Predicted Effect

probably benign
Transcript: ENSMUST00000224973

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.] RAB24 is a small GTPase of the Rab subfamily of Ras-related proteins that regulate intracellular protein trafficking (Olkkonen et al., 1993 [PubMed 8126105]).[supplied by OMIM, Aug 2009]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl1	C	T	4: 86,342,477 (GRCm39)	T1672I	probably damaging	Het
Ahnak	T	G	19: 8,990,266 (GRCm39)	M3850R	unknown	Het
Cacna1s	T	A	1: 136,022,689 (GRCm39)	L874Q	possibly damaging	Het
Cacna2d4	A	T	6: 119,274,479 (GRCm39)	D622V	probably benign	Het
Ccdc150	T	C	1: 54,317,990 (GRCm39)	S310P	probably damaging	Het
Cecr2	A	T	6: 120,735,538 (GRCm39)	N148Y		Het
Celsr2	T	C	3: 108,322,084 (GRCm39)	T243A	probably damaging	Het
Coro1b	C	T	19: 4,201,473 (GRCm39)	T279I	probably damaging	Het
Cyp51	A	G	5: 4,150,198 (GRCm39)	I175T	probably damaging	Het
Dnajc21	T	C	15: 10,462,048 (GRCm39)	I118V	possibly damaging	Het
Dtna	T	C	18: 23,780,112 (GRCm39)		probably null	Het
Etl4	A	G	2: 20,748,784 (GRCm39)	K374R	probably benign	Het
Fance	G	A	17: 28,537,327 (GRCm39)	C53Y	probably damaging	Het
Gm14496	G	T	2: 181,640,647 (GRCm39)	C538F	probably damaging	Het
Gon4l	T	A	3: 88,803,538 (GRCm39)	V1383D	probably benign	Het
Gpr6	C	A	10: 40,946,944 (GRCm39)	D213Y	possibly damaging	Het
Has2	A	G	15: 56,531,684 (GRCm39)	Y344H	probably damaging	Het
Kcnh2	A	T	5: 24,537,964 (GRCm39)	M133K	probably benign	Het
Kdm5a	A	G	6: 120,365,056 (GRCm39)	H152R	probably damaging	Het
Klhl33	C	T	14: 51,130,225 (GRCm39)	R163H	probably damaging	Het
Lax1	T	A	1: 133,611,752 (GRCm39)	Q61L	probably benign	Het
Lct	T	C	1: 128,228,329 (GRCm39)	T1055A	possibly damaging	Het
Lrrc8c	A	G	5: 105,756,163 (GRCm39)	Y646C	possibly damaging	Het
Mtarc1	T	C	1: 184,527,633 (GRCm39)	T274A	probably benign	Het
Myo1b	A	G	1: 51,902,577 (GRCm39)	V51A	probably damaging	Het
Naip2	T	A	13: 100,298,243 (GRCm39)	S598C	probably damaging	Het
Neb	A	G	2: 52,137,215 (GRCm39)	S250P		Het
Nim1k	A	T	13: 120,189,362 (GRCm39)	C16S	probably benign	Het
Oosp1	T	C	19: 11,664,769 (GRCm39)	T96A	probably damaging	Het
Or1e1c	T	C	11: 73,265,790 (GRCm39)	S75P	probably damaging	Het
Or2q1	G	T	6: 42,795,197 (GRCm39)	R264L	probably benign	Het
Or8k17	T	A	2: 86,066,744 (GRCm39)	Q138L	probably damaging	Het
Pik3c2b	C	T	1: 133,005,187 (GRCm39)	R563C	probably damaging	Het
Ppp1r18	CGAGGAGGAGGAGGAGGAGGAGGA	CGAGGAGGAGGAGGAGGAGGA	17: 36,184,743 (GRCm39)		probably benign	Het
Prps1l1	T	A	12: 35,035,089 (GRCm39)	M68K		Het
Prr11	A	T	11: 86,992,254 (GRCm39)	L207*	probably null	Het
Psme3	T	C	11: 101,211,559 (GRCm39)	Y202H	probably damaging	Het
Ptma	A	G	1: 86,455,694 (GRCm39)	S57G	unknown	Het
Reep6	A	G	10: 80,166,091 (GRCm39)	T83A	probably benign	Het
Semp2l2b	C	T	10: 21,943,752 (GRCm39)	R76Q	probably benign	Het
Shroom4	GCAACAACAACAACAACAACAACAACA	GCAACAACAACAACAACAACAACA	X: 6,536,131 (GRCm39)		probably benign	Het
Siglec1	T	C	2: 130,925,390 (GRCm39)	K357R	probably benign	Het
Slc2a4	T	A	11: 69,836,728 (GRCm39)	H167L	probably benign	Het
Slc8a3	T	A	12: 81,361,838 (GRCm39)	H327L	probably benign	Het
Slf1	G	A	13: 77,194,656 (GRCm39)	L890F		Het
Smchd1	A	C	17: 71,701,791 (GRCm39)	I1067R	probably benign	Het
Stk33	T	A	7: 108,940,689 (GRCm39)	N7I	probably benign	Het
Tex47	T	C	5: 7,355,194 (GRCm39)	M125T	possibly damaging	Het
Thada	A	T	17: 84,766,292 (GRCm39)	L38*	probably null	Het
Thbs1	A	G	2: 117,947,983 (GRCm39)	D381G	probably benign	Het
Uggt1	A	T	1: 36,203,603 (GRCm39)	V1009D		Het
Usp17la	A	T	7: 104,508,531 (GRCm39)		probably benign	Het
Zfp438	A	T	18: 5,214,054 (GRCm39)	N301K	probably benign	Het
Zfp606	T	A	7: 12,227,907 (GRCm39)	I676N	possibly damaging	Het

Other mutations in Rab24

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0518:Rab24	UTSW	13	55,468,738 (GRCm39)	critical splice donor site	probably null
R0521:Rab24	UTSW	13	55,468,738 (GRCm39)	critical splice donor site	probably null
R3871:Rab24	UTSW	13	55,468,992 (GRCm39)	missense	probably damaging	1.00
R5935:Rab24	UTSW	13	55,468,343 (GRCm39)	missense	probably damaging	1.00
R5964:Rab24	UTSW	13	55,469,389 (GRCm39)	missense	probably damaging	1.00
R7528:Rab24	UTSW	13	55,468,921 (GRCm39)	missense	probably damaging	1.00
R7941:Rab24	UTSW	13	55,468,120 (GRCm39)	splice site	probably null
R8044:Rab24	UTSW	13	55,469,345 (GRCm39)	unclassified	probably benign
V1024:Rab24	UTSW	13	55,468,561 (GRCm39)	missense	probably benign	0.09

Predicted Primers

PCR Primer
(F):5'- AATACTTCCTCCGTTCCATGGG -3'
(R):5'- AGGCCCTCACTGATTCTTTG -3'

Sequencing Primer
(F):5'- CTGGAATAGCTCAGACGCTTGAC -3'
(R):5'- GATTCTTTGCTTGCCAGATGAAC -3'

Posted On

2022-05-16