Mutagenetix > Incidental Mutation

Incidental Mutation 'R5975:Rab26'

471727

Institutional Source

Beutler Lab

Gene Symbol

Rab26

Ensembl Gene

ENSMUSG00000079657

Gene Name

RAB26, member RAS oncogene family

Synonyms

A830020M03Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.124) question?

Stock #

R5975 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

24748038-24752696 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 24749373 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 193 (N193D)

Ref Sequence

ENSEMBL: ENSMUSP00000135775 (fasta)

Gene Model

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

AlphaFold

Q504M8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000035797
AA Change: N158D

PolyPhen 2 Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000046089
Gene: ENSMUSG00000079657
AA Change: N158D

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

possibly damaging
Transcript: ENSMUST00000176533
AA Change: N193D

PolyPhen 2 Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000135775
Gene: ENSMUSG00000079657
AA Change: N193D

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: ENSMUST00000176215

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176921

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177139

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176361

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176434

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

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

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: ENSMUST00000177025

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: ENSMUST00000176668

SMART Domains

Protein: ENSMUSP00000135586
Gene: ENSMUSG00000052752

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177441

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

probably benign
Transcript: ENSMUST00000177401

Meta Mutation Damage Score

0.6808

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.8%
20x: 93.3%

Validation Efficiency

98% (80/82)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9430038I01Rik	T	C	7: 136,989,021 (GRCm39)		probably benign	Het
Abhd14a	A	T	9: 106,321,150 (GRCm39)		probably null	Het
Actn2	T	C	13: 12,355,378 (GRCm39)	N2D	probably benign	Het
Adcy9	T	C	16: 4,129,431 (GRCm39)	E722G	probably damaging	Het
Alox12	C	A	11: 70,133,609 (GRCm39)	V572L	possibly damaging	Het
Ankrd11	T	C	8: 123,616,488 (GRCm39)	I2434V	possibly damaging	Het
Anks1	T	A	17: 28,210,421 (GRCm39)		probably null	Het
Bltp1	C	T	3: 37,023,370 (GRCm39)	T2233I	possibly damaging	Het
Bpifa3	T	A	2: 153,978,241 (GRCm39)	S148T	probably damaging	Het
Bptf	C	T	11: 106,926,690 (GRCm39)		probably benign	Het
Cabin1	A	T	10: 75,493,673 (GRCm39)	L1655H	probably damaging	Het
Ccdc13	G	T	9: 121,656,301 (GRCm39)	Q171K	probably benign	Het
Ccdc33	T	A	9: 58,024,761 (GRCm39)	Q155L	possibly damaging	Het
Cckbr	G	A	7: 105,119,826 (GRCm39)	G280E	probably benign	Het
Cdk11b	G	A	4: 155,732,697 (GRCm39)		probably benign	Het
Celsr1	G	T	15: 85,803,239 (GRCm39)		probably null	Het
Cenpj	A	T	14: 56,801,523 (GRCm39)	I150N	possibly damaging	Het
Cep135	C	A	5: 76,788,737 (GRCm39)	A1110E	possibly damaging	Het
Chit1	C	A	1: 134,074,364 (GRCm39)	H224N	probably damaging	Het
Cul5	T	C	9: 53,534,093 (GRCm39)	R680G	probably damaging	Het
Dhx58	C	A	11: 100,593,035 (GRCm39)	R224L	probably damaging	Het
Dlx1	C	A	2: 71,361,353 (GRCm39)	N122K	probably damaging	Het
Dnah5	A	C	15: 28,234,428 (GRCm39)	D279A	probably damaging	Het
Dnai4	G	A	4: 102,906,786 (GRCm39)	P676S	probably benign	Het
Efcab3	A	G	11: 104,578,375 (GRCm39)		probably benign	Het
Enpp3	A	G	10: 24,650,740 (GRCm39)	W799R	probably benign	Het
Ercc5	A	G	1: 44,212,566 (GRCm39)	T675A	probably benign	Het
Farsa	T	A	8: 85,591,061 (GRCm39)		probably null	Het
Fbxw15	A	T	9: 109,384,320 (GRCm39)	V397D	probably damaging	Het
Fcrl5	G	A	3: 87,349,410 (GRCm39)	V62I	probably benign	Het
Gart	A	G	16: 91,421,224 (GRCm39)	S815P	probably damaging	Het
Glrx5	A	G	12: 105,006,582 (GRCm39)	N111S	possibly damaging	Het
Gm10845	A	G	14: 80,100,614 (GRCm39)		noncoding transcript	Het
Gm9925	T	A	18: 74,198,587 (GRCm39)		probably benign	Het
Gsdme	T	C	6: 50,204,339 (GRCm39)	N206S	probably benign	Het
Helz2	T	C	2: 180,872,843 (GRCm39)	S2459G	probably benign	Het
Hnrnpul1	A	G	7: 25,453,784 (GRCm39)	S93P	possibly damaging	Het
Ints2	A	T	11: 86,117,574 (GRCm39)	I716N	possibly damaging	Het
Lmnb2	G	A	10: 80,740,962 (GRCm39)	Q248*	probably null	Het
Map3k7cl	A	G	16: 87,367,209 (GRCm39)	I32V	probably benign	Het
Mfsd4b4	A	T	10: 39,768,466 (GRCm39)	I255N	probably benign	Het
Myh6	A	G	14: 55,187,965 (GRCm39)	I1163T	probably benign	Het
Nphs1	A	T	7: 30,165,540 (GRCm39)	T636S	possibly damaging	Het
Ntsr1	T	A	2: 180,142,581 (GRCm39)	L124Q	probably damaging	Het
Obscn	C	T	11: 59,013,445 (GRCm39)		probably null	Het
P4ha2	G	A	11: 54,017,238 (GRCm39)		probably null	Het
Pcdha9	T	A	18: 37,132,164 (GRCm39)	V411D	probably benign	Het
Pkhd1l1	A	T	15: 44,389,384 (GRCm39)	I1380F	probably damaging	Het
Plekha1	T	C	7: 130,493,983 (GRCm39)	V106A	probably benign	Het
Plekhm1	A	T	11: 103,267,517 (GRCm39)	V818E	possibly damaging	Het
Pprc1	T	G	19: 46,053,809 (GRCm39)		probably benign	Het
Prb1c	A	G	6: 132,339,036 (GRCm39)	S61P	unknown	Het
Prmt9	T	C	8: 78,287,647 (GRCm39)		probably benign	Het
Rnf111	A	G	9: 70,336,862 (GRCm39)	S942P	probably damaging	Het
Scgb2b18	T	C	7: 32,872,650 (GRCm39)	T52A	probably damaging	Het
Syt3	C	T	7: 44,042,187 (GRCm39)	Q349*	probably null	Het
Tas2r107	T	C	6: 131,636,743 (GRCm39)	N102S	probably benign	Het
Tas2r126	T	A	6: 42,411,934 (GRCm39)	Y156N	possibly damaging	Het
Tcaf2	A	T	6: 42,619,712 (GRCm39)	I105N	probably benign	Het
Tet1	A	C	10: 62,715,552 (GRCm39)	M81R	probably benign	Het
Togaram2	T	C	17: 72,036,200 (GRCm39)	Y897H	probably damaging	Het
Trerf1	A	T	17: 47,625,197 (GRCm39)		noncoding transcript	Het
Ttn	G	A	2: 76,591,579 (GRCm39)	T12703I	probably damaging	Het
Unc79	A	G	12: 103,091,885 (GRCm39)	K1735E	possibly damaging	Het
Usp54	G	A	14: 20,633,419 (GRCm39)	T372I	possibly damaging	Het
Wdr24	T	C	17: 26,046,102 (GRCm39)	S476P	probably benign	Het
Zbtb1	T	C	12: 76,433,049 (GRCm39)	I345T	possibly damaging	Het
Zcrb1	T	A	15: 93,293,496 (GRCm39)	I29L	probably benign	Het
Zfp341	T	A	2: 154,472,361 (GRCm39)	C315S	probably damaging	Het
Zfp623	C	A	15: 75,820,012 (GRCm39)	R323S	probably benign	Het
Zfp831	T	A	2: 174,485,885 (GRCm39)	Y187N	possibly damaging	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
R6307:Rab26	UTSW	17	24,749,072 (GRCm39)	missense	probably damaging	1.00
R6601:Rab26	UTSW	17	24,748,595 (GRCm39)	nonsense	probably null
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'- TTGTGCCACACCTGATTGAG -3'
(R):5'- CAAGTAGGCACACTTATGGGACAG -3'

Sequencing Primer
(F):5'- CTAGAAGCCCTTATTTATCCAGGTGG -3'
(R):5'- CAGCAGGTGAGGGTGATGC -3'

Posted On

2017-03-31