Mutagenetix > Incidental Mutation

Incidental Mutation 'R6601:Rab26'

525299

Institutional Source

Beutler Lab

Gene Symbol

Rab26

Ensembl Gene

ENSMUSG00000079657

Gene Name

RAB26, member RAS oncogene family

Synonyms

A830020M03Rik

MMRRC Submission

044725-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.110) question?

Stock #

R6601 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

24748038-24752696 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 24748595 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 270 (K270*)

Ref Sequence

ENSEMBL: ENSMUSP00000135775 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035797] [ENSMUST00000061764] [ENSMUST00000176086] [ENSMUST00000176178] [ENSMUST00000176533] [ENSMUST00000176652] [ENSMUST00000177025] [ENSMUST00000176353] [ENSMUST00000177154] [ENSMUST00000177193] [ENSMUST00000176324] [ENSMUST00000176237] [ENSMUST00000176668] [ENSMUST00000177401] [ENSMUST00000177405]

AlphaFold

Q504M8

Predicted Effect

probably null
Transcript: ENSMUST00000035797
AA Change: K235*

SMART Domains

Protein: ENSMUSP00000046089
Gene: ENSMUSG00000079657
AA Change: K235*

Domain	Start	End	E-Value	Type
low complexity region	40	50	N/A	INTRINSIC
RAB	68	232	2.84e-101	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000061764

SMART Domains

Protein: ENSMUSP00000055970
Gene: ENSMUSG00000079657

Domain	Start	End	E-Value	Type
low complexity region	40	50	N/A	INTRINSIC
Pfam:Arf	59	145	1.1e-8	PFAM
Pfam:Ras	69	145	6.6e-27	PFAM
Pfam:Roc	69	157	4.7e-23	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000082834

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176025

Predicted Effect

probably benign
Transcript: ENSMUST00000176086

SMART Domains

Protein: ENSMUSP00000135845
Gene: ENSMUSG00000052752

Domain	Start	End	E-Value	Type
low complexity region	103	132	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176092

Predicted Effect

probably benign
Transcript: ENSMUST00000176178

SMART Domains

Protein: ENSMUSP00000134808
Gene: ENSMUSG00000052752

Domain	Start	End	E-Value	Type
low complexity region	31	44	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000176533
AA Change: K270*

SMART Domains

Protein: ENSMUSP00000135775
Gene: ENSMUSG00000079657
AA Change: K270*

Domain	Start	End	E-Value	Type
low complexity region	75	85	N/A	INTRINSIC
RAB	103	267	2.84e-101	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177139

Predicted Effect

probably benign
Transcript: ENSMUST00000176652

SMART Domains

Protein: ENSMUSP00000134759
Gene: ENSMUSG00000052752

Domain	Start	End	E-Value	Type
low complexity region	31	44	N/A	INTRINSIC
low complexity region	90	104	N/A	INTRINSIC
low complexity region	109	117	N/A	INTRINSIC
RING	130	163	4.73e-6	SMART
coiled coil region	304	372	N/A	INTRINSIC
WD40	384	423	8.35e-11	SMART
WD40	427	464	8.42e-7	SMART
WD40	467	503	2.09e-2	SMART
WD40	508	544	1.92e0	SMART
WD40	547	584	5.15e-2	SMART
WD40	587	628	1.78e-5	SMART
WD40	631	668	1.63e-4	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176921

Predicted Effect

probably benign
Transcript: ENSMUST00000177025

Predicted Effect

probably benign
Transcript: ENSMUST00000176353

SMART Domains

Protein: ENSMUSP00000135267
Gene: ENSMUSG00000052752

Domain	Start	End	E-Value	Type
low complexity region	31	44	N/A	INTRINSIC
RING	92	125	4.73e-6	SMART
coiled coil region	264	332	N/A	INTRINSIC
WD40	344	383	8.35e-11	SMART
WD40	387	424	8.42e-7	SMART
WD40	427	463	2.09e-2	SMART
WD40	468	504	1.92e0	SMART
WD40	507	544	5.15e-2	SMART
WD40	547	588	1.78e-5	SMART
WD40	591	628	1.63e-4	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176361

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176434

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176215

Predicted Effect

probably benign
Transcript: ENSMUST00000177154

SMART Domains

Protein: ENSMUSP00000135874
Gene: ENSMUSG00000052752

Domain	Start	End	E-Value	Type
low complexity region	31	44	N/A	INTRINSIC
low complexity region	91	105	N/A	INTRINSIC
low complexity region	110	118	N/A	INTRINSIC
RING	131	164	4.73e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000177193

SMART Domains

Protein: ENSMUSP00000135288
Gene: ENSMUSG00000052752

Domain	Start	End	E-Value	Type
low complexity region	31	44	N/A	INTRINSIC
low complexity region	90	104	N/A	INTRINSIC
low complexity region	109	117	N/A	INTRINSIC
RING	130	163	4.73e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000176324

Predicted Effect

probably benign
Transcript: ENSMUST00000176237

SMART Domains

Protein: ENSMUSP00000134946
Gene: ENSMUSG00000052752

Domain	Start	End	E-Value	Type
low complexity region	31	44	N/A	INTRINSIC
RING	91	124	4.73e-6	SMART
Pfam:zf-TRAF	182	238	8.4e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000176668

SMART Domains

Protein: ENSMUSP00000135586
Gene: ENSMUSG00000052752

Domain	Start	End	E-Value	Type
low complexity region	31	44	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000177401

Predicted Effect

probably benign
Transcript: ENSMUST00000177405

SMART Domains

Protein: ENSMUSP00000135127
Gene: ENSMUSG00000052752

Domain	Start	End	E-Value	Type
low complexity region	31	44	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177441

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 93.0%

Validation Efficiency

98% (41/42)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Members of the RAB protein family, including RAB26, are important regulators of vesicular fusion and trafficking. The RAB family of small G proteins regulates intercellular vesicle trafficking, including exocytosis, endocytosis, and recycling (summary by Seki et al., 2000 [PubMed 11043516]).[supplied by OMIM, Nov 2010]

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aox1	T	G	1: 58,102,665 (GRCm39)	L527R	probably damaging	Het
Ccdc172	T	A	19: 58,525,723 (GRCm39)	C194S	possibly damaging	Het
Ccnb1ip1	G	T	14: 51,031,121 (GRCm39)	T64K	possibly damaging	Het
Ces1b	T	C	8: 93,806,109 (GRCm39)	E44G	probably benign	Het
Coro2a	A	T	4: 46,543,421 (GRCm39)	Y317*	probably null	Het
Csnk1a1	T	C	18: 61,711,829 (GRCm39)	F281S	probably damaging	Het
Ddx28	A	T	8: 106,737,248 (GRCm39)		probably null	Het
Dtnbp1	A	G	13: 45,084,721 (GRCm39)		probably null	Het
Eif2s1	T	C	12: 78,930,126 (GRCm39)	I258T	possibly damaging	Het
Elp3	T	C	14: 65,784,488 (GRCm39)	*554W	probably null	Het
Golga1	T	C	2: 38,910,118 (GRCm39)	M610V	probably damaging	Het
Hc	T	A	2: 34,935,906 (GRCm39)	K156N	probably benign	Het
Hcls1	G	A	16: 36,782,748 (GRCm39)	G428D	probably benign	Het
Il16	T	C	7: 83,371,677 (GRCm39)	D43G	probably damaging	Het
Klhl3	C	A	13: 58,242,930 (GRCm39)	K91N	probably damaging	Het
L3mbtl1	C	T	2: 162,790,095 (GRCm39)		probably benign	Het
Lamc3	T	C	2: 31,810,544 (GRCm39)	F805L	possibly damaging	Het
Lipg	T	C	18: 75,081,275 (GRCm39)	M269V	probably benign	Het
Ly75	G	A	2: 60,148,720 (GRCm39)	T1203I	probably benign	Het
Mat1a	T	A	14: 40,827,561 (GRCm39)	V5E	probably benign	Het
Muc16	A	T	9: 18,548,866 (GRCm39)	L5809Q	probably benign	Het
Naip6	G	A	13: 100,420,266 (GRCm39)	R1335C	probably benign	Het
Ndufaf3	T	C	9: 108,443,416 (GRCm39)	H128R	probably benign	Het
Nphp4	A	T	4: 152,587,464 (GRCm39)		probably null	Het
Or8u8	T	A	2: 86,012,309 (GRCm39)	I49F	probably damaging	Het
Otop3	T	C	11: 115,230,673 (GRCm39)	V148A	probably damaging	Het
Ovgp1	T	C	3: 105,893,747 (GRCm39)		probably benign	Het
Pcsk5	T	G	19: 17,488,744 (GRCm39)	R1025S	probably benign	Het
Pkd1l2	T	C	8: 117,767,405 (GRCm39)	D1295G	probably benign	Het
Polr1d	T	A	5: 147,015,359 (GRCm39)	L14*	probably null	Het
Rasgef1c	T	A	11: 49,862,246 (GRCm39)	N378K	probably damaging	Het
Rpl7a	T	C	2: 26,801,536 (GRCm39)	V76A	probably benign	Het
Samd9l	T	A	6: 3,377,229 (GRCm39)	I11F	possibly damaging	Het
Smarca2	C	A	19: 26,631,777 (GRCm39)	Q531K	probably benign	Het
Styxl1	C	G	5: 135,784,350 (GRCm39)	G211A	probably benign	Het
Taar9	T	C	10: 23,984,945 (GRCm39)	Y163C	probably damaging	Het
Tmem198	T	A	1: 75,457,017 (GRCm39)	F48I	possibly damaging	Het
Ttn	T	A	2: 76,595,073 (GRCm39)	N12032I	probably damaging	Het
Ubr7	T	A	12: 102,727,723 (GRCm39)	C82S	probably damaging	Het
Wwtr1	T	C	3: 57,483,159 (GRCm39)	E48G	possibly damaging	Het
Zfp108	T	C	7: 23,960,819 (GRCm39)	V470A	probably damaging	Het
Zfp612	C	A	8: 110,816,181 (GRCm39)	Q424K	possibly damaging	Het
Zscan4-ps1	T	C	7: 10,802,761 (GRCm39)	T13A	probably benign	Het

Other mutations in Rab26

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02636:Rab26	APN	17	24,752,533 (GRCm39)	missense	probably benign	0.01
R0131:Rab26	UTSW	17	24,749,759 (GRCm39)	critical splice donor site	probably null
R0131:Rab26	UTSW	17	24,749,759 (GRCm39)	critical splice donor site	probably null
R0132:Rab26	UTSW	17	24,749,759 (GRCm39)	critical splice donor site	probably null
R0377:Rab26	UTSW	17	24,749,019 (GRCm39)	unclassified	probably benign
R0567:Rab26	UTSW	17	24,748,556 (GRCm39)	missense	probably damaging	0.99
R0681:Rab26	UTSW	17	24,746,940 (GRCm39)	unclassified	probably benign
R5103:Rab26	UTSW	17	24,753,071 (GRCm39)	unclassified	probably benign
R5226:Rab26	UTSW	17	24,753,107 (GRCm39)	unclassified	probably benign
R5975:Rab26	UTSW	17	24,749,373 (GRCm39)	missense	possibly damaging	0.94
R6307:Rab26	UTSW	17	24,749,072 (GRCm39)	missense	probably damaging	1.00
R6897:Rab26	UTSW	17	24,748,766 (GRCm39)	missense	probably damaging	1.00
R7122:Rab26	UTSW	17	24,749,652 (GRCm39)	missense	probably damaging	1.00
R7155:Rab26	UTSW	17	24,751,263 (GRCm39)	missense	probably damaging	0.99
R8708:Rab26	UTSW	17	24,748,772 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAGCATTAGCCTCTGGTGTC -3'
(R):5'- ATGGGCTACCTTTCATGGAGAC -3'

Sequencing Primer
(F):5'- TCTTTGAGAAGACACTAGGGCATCC -3'
(R):5'- TACCTTTCATGGAGACCAGCG -3'

Posted On

2018-06-22