Incidental Mutation 'R0132:Rab26'
ID |
21721 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rab26
|
Ensembl Gene |
ENSMUSG00000079657 |
Gene Name |
RAB26, member RAS oncogene family |
Synonyms |
A830020M03Rik |
MMRRC Submission |
038417-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.124)
|
Stock # |
R0132 (G1)
|
Quality Score |
199 |
Status
|
Validated
(trace)
|
Chromosome |
17 |
Chromosomal Location |
24748038-24752696 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site (1 bp from exon) |
DNA Base Change (assembly) |
C to T
at 24749759 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000135775
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035797]
[ENSMUST00000061764]
[ENSMUST00000176086]
[ENSMUST00000176533]
[ENSMUST00000176668]
[ENSMUST00000176178]
[ENSMUST00000177025]
[ENSMUST00000176237]
[ENSMUST00000176353]
[ENSMUST00000176652]
[ENSMUST00000176324]
[ENSMUST00000177405]
[ENSMUST00000177154]
[ENSMUST00000177401]
[ENSMUST00000177193]
|
AlphaFold |
Q504M8 |
Predicted Effect |
probably null
Transcript: ENSMUST00000035797
|
SMART Domains |
Protein: ENSMUSP00000046089 Gene: ENSMUSG00000079657
Domain | Start | End | E-Value | Type |
low complexity region
|
40 |
50 |
N/A |
INTRINSIC |
RAB
|
68 |
232 |
2.84e-101 |
SMART |
|
Predicted Effect |
probably null
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 null
Transcript: ENSMUST00000176533
|
SMART Domains |
Protein: ENSMUSP00000135775 Gene: ENSMUSG00000079657
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: ENSMUST00000176434
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176361
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176921
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176215
|
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: 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: ENSMUST00000177025
|
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: 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: ENSMUST00000176324
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177441
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177139
|
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: 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: ENSMUST00000177401
|
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 |
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 97.9%
- 10x: 94.2%
- 20x: 84.8%
|
Validation Efficiency |
90% (52/58) |
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: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc12 |
A |
G |
8: 87,258,197 (GRCm39) |
I773T |
probably benign |
Het |
Adamtsl1 |
T |
A |
4: 86,260,960 (GRCm39) |
I1057N |
possibly damaging |
Het |
Anxa5 |
G |
A |
3: 36,504,821 (GRCm39) |
A247V |
probably damaging |
Het |
Ascc3 |
T |
G |
10: 50,611,425 (GRCm39) |
W1589G |
probably damaging |
Het |
Atp2b2 |
G |
A |
6: 113,770,743 (GRCm39) |
P389S |
probably damaging |
Het |
Bpifa6 |
T |
A |
2: 153,824,851 (GRCm39) |
S9T |
probably benign |
Het |
Cfhr4 |
T |
A |
1: 139,682,009 (GRCm39) |
T196S |
probably damaging |
Het |
Chd8 |
A |
G |
14: 52,442,783 (GRCm39) |
V589A |
probably benign |
Het |
Chrnb2 |
T |
C |
3: 89,671,713 (GRCm39) |
M1V |
probably null |
Het |
Col16a1 |
T |
A |
4: 129,960,889 (GRCm39) |
V449E |
unknown |
Het |
Cttnbp2nl |
T |
G |
3: 104,913,173 (GRCm39) |
K237T |
probably damaging |
Het |
Dazap1 |
T |
G |
10: 80,114,060 (GRCm39) |
|
probably null |
Het |
Fam187b |
T |
A |
7: 30,688,545 (GRCm39) |
V22E |
probably damaging |
Het |
Fcgbpl1 |
A |
G |
7: 27,837,040 (GRCm39) |
R320G |
probably damaging |
Het |
H2-T24 |
T |
A |
17: 36,325,878 (GRCm39) |
I238F |
probably damaging |
Het |
Hectd4 |
A |
G |
5: 121,471,087 (GRCm39) |
E2658G |
probably benign |
Het |
Herc1 |
A |
C |
9: 66,388,192 (GRCm39) |
I3826L |
probably benign |
Het |
Hinfp |
A |
G |
9: 44,211,060 (GRCm39) |
C67R |
probably damaging |
Het |
Hp1bp3 |
C |
T |
4: 137,964,520 (GRCm39) |
S348F |
probably damaging |
Het |
Hspg2 |
T |
C |
4: 137,279,198 (GRCm39) |
Y3094H |
probably damaging |
Het |
Htr1f |
A |
G |
16: 64,747,091 (GRCm39) |
V67A |
probably damaging |
Het |
Iqcc |
T |
G |
4: 129,510,392 (GRCm39) |
E374D |
probably damaging |
Het |
Kcnj9 |
T |
C |
1: 172,153,765 (GRCm39) |
T120A |
probably damaging |
Het |
Kitl |
C |
T |
10: 99,923,226 (GRCm39) |
P208S |
probably benign |
Het |
Lpcat4 |
A |
G |
2: 112,077,093 (GRCm39) |
Y479C |
probably damaging |
Het |
Lrrc74b |
T |
C |
16: 17,371,016 (GRCm39) |
N227S |
probably damaging |
Het |
Mdc1 |
T |
A |
17: 36,163,473 (GRCm39) |
V1007D |
probably damaging |
Het |
Mocos |
T |
G |
18: 24,812,819 (GRCm39) |
I571S |
probably benign |
Het |
Myh8 |
A |
G |
11: 67,183,014 (GRCm39) |
N659D |
probably damaging |
Het |
Naip2 |
A |
G |
13: 100,320,296 (GRCm39) |
V240A |
probably benign |
Het |
Nap1l1 |
T |
C |
10: 111,321,370 (GRCm39) |
S37P |
probably benign |
Het |
Nin |
T |
G |
12: 70,097,915 (GRCm39) |
K515T |
probably damaging |
Het |
Npl |
T |
A |
1: 153,384,864 (GRCm39) |
K258* |
probably null |
Het |
Ntn4 |
T |
A |
10: 93,480,569 (GRCm39) |
S98T |
possibly damaging |
Het |
Or10x1 |
T |
C |
1: 174,197,152 (GRCm39) |
V223A |
probably damaging |
Het |
Or2z8 |
C |
T |
8: 72,812,244 (GRCm39) |
T240M |
probably damaging |
Het |
Or5k14 |
C |
A |
16: 58,693,269 (GRCm39) |
M81I |
probably benign |
Het |
Ppox |
C |
A |
1: 171,106,849 (GRCm39) |
A192S |
possibly damaging |
Het |
Prkdc |
T |
C |
16: 15,531,517 (GRCm39) |
L1380S |
probably benign |
Het |
Psd4 |
C |
A |
2: 24,295,363 (GRCm39) |
A839E |
probably damaging |
Het |
Ptprn2 |
T |
G |
12: 116,685,711 (GRCm39) |
F57V |
probably damaging |
Het |
Ptprt |
C |
T |
2: 162,120,030 (GRCm39) |
V146I |
probably benign |
Het |
R3hdm2 |
T |
A |
10: 127,334,322 (GRCm39) |
M915K |
probably damaging |
Het |
Rnf213 |
A |
G |
11: 119,321,187 (GRCm39) |
E1215G |
probably benign |
Het |
Rprd2 |
T |
C |
3: 95,681,673 (GRCm39) |
K407E |
probably damaging |
Het |
Siah3 |
G |
A |
14: 75,693,574 (GRCm39) |
V27I |
possibly damaging |
Het |
Slc14a2 |
T |
A |
18: 78,235,338 (GRCm39) |
N280Y |
probably damaging |
Het |
Slc25a35 |
A |
G |
11: 68,862,786 (GRCm39) |
Y247C |
probably damaging |
Het |
Slc29a4 |
A |
G |
5: 142,691,285 (GRCm39) |
D55G |
probably benign |
Het |
Slc35d1 |
C |
T |
4: 103,065,378 (GRCm39) |
V189I |
probably benign |
Het |
Srrm1 |
G |
A |
4: 135,067,884 (GRCm39) |
R322* |
probably null |
Het |
Stac3 |
A |
T |
10: 127,339,519 (GRCm39) |
R138S |
probably damaging |
Het |
Tmem260 |
T |
A |
14: 48,720,779 (GRCm39) |
C306* |
probably null |
Het |
Tspyl1 |
A |
G |
10: 34,159,085 (GRCm39) |
N270S |
probably damaging |
Het |
Ugt2a2 |
T |
A |
5: 87,622,720 (GRCm39) |
K293* |
probably null |
Het |
Vmn2r102 |
A |
C |
17: 19,899,025 (GRCm39) |
T456P |
probably benign |
Het |
Vmn2r90 |
T |
A |
17: 17,932,511 (GRCm39) |
S139R |
probably benign |
Het |
Zmym2 |
A |
G |
14: 57,180,715 (GRCm39) |
N876D |
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 |
|
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 |
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'- CAGACCCCATGTCAATGGGCTTAC -3'
(R):5'- AAATCAGCTTCTCCAGGCAGGGTG -3'
Sequencing Primer
(F):5'- AATGGGCTTACCGTGAGCATC -3'
(R):5'- CTCAAGTTGAAGGTGCTCCTAAG -3'
|
Posted On |
2013-04-11 |