Mutagenetix > Incidental Mutations

Incidental Mutation 'R7155:Rab26'

557265

Institutional Source

Beutler Lab

Gene Symbol

Rab26

Ensembl Gene

ENSMUSG00000079657

Gene Name

RAB26, member RAS oncogene family

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.117) question?

Stock #

R7155 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

24527241-24534210 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 24532289 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 81 (T81A)

Ref Sequence

ENSEMBL: ENSMUSP00000046089 (fasta)

Gene Model

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

AlphaFold

Q504M8

Predicted Effect

probably damaging
Transcript: ENSMUST00000035797
AA Change: T81A

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000046089
Gene: ENSMUSG00000079657
AA Change: T81A

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000061764
AA Change: T81A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000055970
Gene: ENSMUSG00000079657
AA Change: T81A

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

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

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 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: ENSMUST00000176324

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 damaging
Transcript: ENSMUST00000176533
AA Change: T116A

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000135775
Gene: ENSMUSG00000079657
AA Change: T116A

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

Validation Efficiency

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921509C19Rik	A	G	2: 151,473,569	L63P	possibly damaging	Het
Abca13	A	T	11: 9,529,010	Y4286F	probably benign	Het
Aldh5a1	A	C	13: 24,911,589	V515G	possibly damaging	Het
Ankrd42	T	C	7: 92,591,933	E406G	possibly damaging	Het
Arfgef2	T	A	2: 166,865,813	M1043K	probably benign	Het
Arhgef11	T	A	3: 87,709,572	Y383*	probably null	Het
Aste1	C	T	9: 105,405,136	P614L	probably damaging	Het
B3galt5	T	A	16: 96,315,805	S213T	probably damaging	Het
Bak1	A	G	17: 27,022,460	L108P	possibly damaging	Het
Bcl6	G	A	16: 23,966,226	R675*	probably null	Het
Bdp1	T	G	13: 100,061,151	T909P	possibly damaging	Het
Cacna1i	A	G	15: 80,395,238	H2060R	probably benign	Het
Cdhr3	G	T	12: 33,061,773	P246Q	probably damaging	Het
Colgalt1	T	C	8: 71,623,710	S602P	probably damaging	Het
Csde1	T	C	3: 103,039,953	S74P	probably damaging	Het
Cyp51	A	T	5: 4,087,846	C366S	possibly damaging	Het
Dcaf7	A	G	11: 106,037,190	N23D	probably damaging	Het
Ddx10	G	A	9: 53,117,288	A772V	probably benign	Het
Ddx4	A	G	13: 112,613,785	F404S	probably benign	Het
Dirc2	G	T	16: 35,735,577	T171K	probably benign	Het
Dlg4	T	A	11: 70,017,216	M1K	probably null	Het
Dnajc6	T	C	4: 101,612,945	V293A	probably damaging	Het
Etl4	G	T	2: 20,806,931	R1643L	probably damaging	Het
F13b	G	A	1: 139,508,157	E234K	probably damaging	Het
Fam171a1	T	C	2: 3,225,729	I633T	probably benign	Het
Frem3	A	G	8: 80,616,039	I1654V	probably benign	Het
Galr2	A	G	11: 116,283,582	E346G	possibly damaging	Het
Gck	G	A	11: 5,949,705		probably benign	Het
Gen1	G	T	12: 11,241,832	T717K	probably benign	Het
Gm13083	A	T	4: 143,616,165	I281F	probably benign	Het
Gpatch8	TTCCTCCTCCTCCTCTTCCTCCTCCTC	TTCCTCCTCCTCCTCCTCTTCCTCCTCCTC	11: 102,480,188		probably benign	Het
Hat1	A	G	2: 71,421,251	T215A	possibly damaging	Het
Hmbox1	A	T	14: 64,897,037	M38K	probably damaging	Het
Ifi47	A	G	11: 49,096,542	K379E	probably benign	Het
Ift81	T	C	5: 122,568,999	Y460C	probably damaging	Het
Jarid2	T	A	13: 44,902,462	S381R	probably damaging	Het
Kmt2b	A	T	7: 30,579,963	V1458E	probably damaging	Het
Kpna4	G	T	3: 69,089,933	P336Q	probably damaging	Het
Krt84	T	C	15: 101,532,254	R168G	probably damaging	Het
Lhx8	T	A	3: 154,324,584	Y137F	possibly damaging	Het
Lin7b	T	C	7: 45,370,227	E19G	probably damaging	Het
Lrmda	A	T	14: 22,584,540	R131S	probably damaging	Het
Lrrc75b	C	T	10: 75,553,678	A280T	possibly damaging	Het
Megf11	G	A	9: 64,647,951	R268K	probably null	Het
Mgat4e	G	T	1: 134,541,959	Q116K	probably damaging	Het
Mlkl	A	G	8: 111,319,403	L325P	probably damaging	Het
Mup2	A	G	4: 60,137,641	L134P	probably damaging	Het
Myo19	A	G	11: 84,900,586	E489G	probably damaging	Het
Ncbp3	C	A	11: 73,048,009	P37Q	probably damaging	Het
Nf2	A	G	11: 4,799,964	V236A	probably damaging	Het
Nlrp1a	A	T	11: 71,124,079	M115K	possibly damaging	Het
Nsf	T	A	11: 103,828,530	K649*	probably null	Het
Olfml2b	A	T	1: 170,666,785	I313L	probably benign	Het
Olfr316	T	A	11: 58,758,283	I206N	probably damaging	Het
Olfr654	T	A	7: 104,588,557	V251D	possibly damaging	Het
Papln	T	A	12: 83,776,521	L444Q	probably damaging	Het
Phc3	T	C	3: 30,914,197	I897V	probably benign	Het
Plcg1	T	C	2: 160,754,380	L632P	probably damaging	Het
Prkg1	T	C	19: 31,302,301	T178A	probably damaging	Het
Ptges	T	A	2: 30,892,804	T79S	probably benign	Het
Rai14	T	A	15: 10,595,003	I145L	possibly damaging	Het
Rasgrf1	A	G	9: 90,002,361	T960A	possibly damaging	Het
Rfx1	A	T	8: 84,094,826	I755F	probably damaging	Het
Rims1	T	G	1: 22,432,923	L670F	probably damaging	Het
Rtkn	G	A	6: 83,149,711	C297Y	probably damaging	Het
Sec23a	A	T	12: 58,989,443	N378K	probably benign	Het
Slc17a2	A	G	13: 23,822,407	E472G	probably benign	Het
Slc1a2	T	C	2: 102,766,995	M449T	probably damaging	Het
Slc22a3	G	A	17: 12,433,631	L369F	possibly damaging	Het
Smad6	G	T	9: 64,021,787	D82E	unknown	Het
Smgc	A	T	15: 91,852,608	I463F	possibly damaging	Het
Strada	C	A	11: 106,171,039	G166C	probably damaging	Het
Tcaf3	A	G	6: 42,593,891	V309A	probably benign	Het
Tet2	C	T	3: 133,469,591	E1332K	possibly damaging	Het
Tfcp2l1	A	G	1: 118,668,632	N366D	probably damaging	Het
Tll2	G	A	19: 41,117,284	P369L	possibly damaging	Het
Tox4	T	C	14: 52,292,097	V505A	probably benign	Het
Trbv4	A	G	6: 41,059,853	D104G	probably damaging	Het
Ugdh	T	C	5: 65,417,037	E416G	probably damaging	Het
Usp47	T	A	7: 112,087,013	C613S	probably damaging	Het
Vmn1r11	T	A	6: 57,138,162	N270K	probably benign	Het
Wsb2	T	A	5: 117,371,095	L147Q	probably damaging	Het
Xrn1	G	A	9: 95,979,145	A453T	possibly damaging	Het
Zan	A	G	5: 137,461,844	S1262P	unknown	Het
Zswim4	A	G	8: 84,219,927	L700P	probably damaging	Het

Other mutations in Rab26

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02636:Rab26	APN	17	24533559	missense	probably benign	0.01
R0131:Rab26	UTSW	17	24530785	critical splice donor site	probably null
R0131:Rab26	UTSW	17	24530785	critical splice donor site	probably null
R0132:Rab26	UTSW	17	24530785	critical splice donor site	probably null
R0377:Rab26	UTSW	17	24530045	unclassified	probably benign
R0567:Rab26	UTSW	17	24529582	missense	probably damaging	0.99
R0681:Rab26	UTSW	17	24527966	unclassified	probably benign
R5103:Rab26	UTSW	17	24534097	unclassified	probably benign
R5226:Rab26	UTSW	17	24534133	unclassified	probably benign
R5975:Rab26	UTSW	17	24530399	missense	possibly damaging	0.94
R6307:Rab26	UTSW	17	24530098	missense	probably damaging	1.00
R6601:Rab26	UTSW	17	24529621	nonsense	probably null
R6897:Rab26	UTSW	17	24529792	missense	probably damaging	1.00
R7122:Rab26	UTSW	17	24530678	missense	probably damaging	1.00
R8708:Rab26	UTSW	17	24529798	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTTTGGTAGCTAAGCTCCACCC -3'
(R):5'- GTCCACACTGCTGAACCTACAG -3'

Sequencing Primer
(F):5'- CCTATGGACATGTCAGGAGATTG -3'
(R):5'- ACAGGCCTGGGATACTCATTTC -3'

Posted On

2019-06-26