Incidental Mutation 'R0377:Rab26'
| ID |
30828 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rab26
|
| Ensembl Gene |
ENSMUSG00000079657 |
| Gene Name |
RAB26, member RAS oncogene family |
| Synonyms |
A830020M03Rik |
| MMRRC Submission |
038583-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.110)
|
| Stock # |
R0377 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
24748038-24752696 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
A to T
at 24749019 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135127
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035797]
[ENSMUST00000061764]
[ENSMUST00000176086]
[ENSMUST00000176178]
[ENSMUST00000176533]
[ENSMUST00000177154]
[ENSMUST00000176237]
[ENSMUST00000176652]
[ENSMUST00000177193]
[ENSMUST00000176324]
[ENSMUST00000176668]
[ENSMUST00000177025]
[ENSMUST00000176353]
[ENSMUST00000177405]
[ENSMUST00000177401]
|
| AlphaFold |
Q504M8 |
| Predicted Effect |
probably benign
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 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 benign
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: ENSMUST00000176921
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177139
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176215
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176361
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176434
|
| 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: 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: 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: 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: 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: 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
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.1%
- 10x: 95.7%
- 20x: 90.8%
|
| Validation Efficiency |
97% (67/69) |
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc3 |
C |
A |
11: 94,265,922 (GRCm39) |
V107F |
possibly damaging |
Het |
| Acad11 |
T |
A |
9: 103,958,891 (GRCm39) |
|
probably benign |
Het |
| Ache |
G |
A |
5: 137,289,190 (GRCm39) |
E299K |
possibly damaging |
Het |
| Adam5 |
T |
C |
8: 25,237,557 (GRCm39) |
T618A |
probably benign |
Het |
| Amigo2 |
T |
A |
15: 97,144,261 (GRCm39) |
T54S |
possibly damaging |
Het |
| Anapc1 |
A |
G |
2: 128,483,260 (GRCm39) |
|
probably null |
Het |
| Btaf1 |
A |
G |
19: 36,966,402 (GRCm39) |
K1057E |
probably benign |
Het |
| Cep55 |
T |
A |
19: 38,060,337 (GRCm39) |
L396* |
probably null |
Het |
| Cic |
C |
A |
7: 24,985,224 (GRCm39) |
H1157N |
probably damaging |
Het |
| Cntnap5a |
A |
T |
1: 116,220,259 (GRCm39) |
T690S |
probably benign |
Het |
| D5Ertd579e |
A |
T |
5: 36,761,911 (GRCm39) |
C1319S |
probably benign |
Het |
| Dnah6 |
A |
G |
6: 73,098,975 (GRCm39) |
S2027P |
possibly damaging |
Het |
| Dnai4 |
A |
G |
4: 102,905,456 (GRCm39) |
V775A |
probably damaging |
Het |
| Dntt |
G |
A |
19: 41,036,066 (GRCm39) |
W369* |
probably null |
Het |
| Esp18 |
T |
A |
17: 39,720,835 (GRCm39) |
W27R |
probably benign |
Het |
| Fam227b |
A |
T |
2: 125,966,920 (GRCm39) |
|
probably benign |
Het |
| Fbxo31 |
G |
A |
8: 122,285,841 (GRCm39) |
|
probably benign |
Het |
| Gm13547 |
G |
A |
2: 29,651,803 (GRCm39) |
|
probably null |
Het |
| Gnl2 |
T |
A |
4: 124,940,175 (GRCm39) |
|
probably benign |
Het |
| Gpx2 |
G |
A |
12: 76,841,930 (GRCm39) |
Q74* |
probably null |
Het |
| Gucy2c |
A |
G |
6: 136,727,915 (GRCm39) |
|
probably null |
Het |
| Hoxa5 |
A |
T |
6: 52,179,626 (GRCm39) |
W250R |
probably damaging |
Het |
| Izumo4 |
G |
A |
10: 80,538,674 (GRCm39) |
R42H |
probably damaging |
Het |
| Kcnj12 |
G |
A |
11: 60,960,222 (GRCm39) |
M71I |
probably benign |
Het |
| Kmt2b |
A |
T |
7: 30,273,618 (GRCm39) |
L2333Q |
probably damaging |
Het |
| Mak |
T |
C |
13: 41,202,824 (GRCm39) |
E177G |
probably damaging |
Het |
| Map3k7 |
T |
A |
4: 31,985,731 (GRCm39) |
I218N |
probably damaging |
Het |
| Mark3 |
T |
C |
12: 111,595,463 (GRCm39) |
L393P |
probably damaging |
Het |
| Msh4 |
A |
G |
3: 153,602,527 (GRCm39) |
S234P |
probably benign |
Het |
| Mug1 |
A |
G |
6: 121,834,320 (GRCm39) |
D367G |
probably benign |
Het |
| Mypn |
A |
G |
10: 62,963,401 (GRCm39) |
|
probably benign |
Het |
| Ncapg |
T |
C |
5: 45,851,159 (GRCm39) |
V784A |
probably benign |
Het |
| Nutf2 |
T |
A |
8: 106,605,504 (GRCm39) |
V113D |
probably damaging |
Het |
| Odad2 |
G |
A |
18: 7,127,415 (GRCm39) |
R933C |
probably benign |
Het |
| Opn3 |
T |
C |
1: 175,491,260 (GRCm39) |
M258V |
probably damaging |
Het |
| Or8k33 |
A |
T |
2: 86,383,927 (GRCm39) |
D180E |
probably damaging |
Het |
| Osbpl7 |
A |
G |
11: 96,946,760 (GRCm39) |
D211G |
probably damaging |
Het |
| Pcnx1 |
C |
T |
12: 82,021,353 (GRCm39) |
|
probably benign |
Het |
| Plekhd1 |
G |
A |
12: 80,753,210 (GRCm39) |
|
probably benign |
Het |
| Pnpla6 |
A |
G |
8: 3,591,501 (GRCm39) |
E1165G |
probably damaging |
Het |
| Prkab2 |
T |
A |
3: 97,569,633 (GRCm39) |
D66E |
probably benign |
Het |
| Prpsap2 |
A |
G |
11: 61,631,826 (GRCm39) |
I177T |
possibly damaging |
Het |
| Ptpn23 |
A |
T |
9: 110,217,200 (GRCm39) |
S885R |
possibly damaging |
Het |
| Rab5a |
G |
A |
17: 53,807,490 (GRCm39) |
M175I |
probably benign |
Het |
| Rassf9 |
T |
A |
10: 102,381,510 (GRCm39) |
D297E |
probably benign |
Het |
| Rimbp2 |
C |
T |
5: 128,880,925 (GRCm39) |
R161Q |
probably damaging |
Het |
| Rtp1 |
A |
G |
16: 23,250,034 (GRCm39) |
Y133C |
probably damaging |
Het |
| Sdr16c5 |
G |
A |
4: 4,005,546 (GRCm39) |
L263F |
probably benign |
Het |
| Sec14l1 |
T |
G |
11: 117,039,966 (GRCm39) |
|
probably benign |
Het |
| Snrnp40 |
C |
G |
4: 130,271,836 (GRCm39) |
|
probably null |
Het |
| Spaca1 |
T |
C |
4: 34,044,267 (GRCm39) |
|
probably null |
Het |
| Stk36 |
C |
T |
1: 74,651,889 (GRCm39) |
P394L |
probably benign |
Het |
| Stk4 |
T |
C |
2: 163,938,720 (GRCm39) |
I196T |
probably damaging |
Het |
| Sult1b1 |
A |
T |
5: 87,665,235 (GRCm39) |
M233K |
probably damaging |
Het |
| Tmem8b |
C |
T |
4: 43,674,005 (GRCm39) |
T212M |
probably damaging |
Het |
| Tmprss11g |
A |
T |
5: 86,638,610 (GRCm39) |
F293I |
probably damaging |
Het |
| Tnfsf11 |
T |
G |
14: 78,537,352 (GRCm39) |
T104P |
probably benign |
Het |
| Trmt2a |
G |
A |
16: 18,067,567 (GRCm39) |
R80Q |
possibly damaging |
Het |
| Trps1 |
C |
A |
15: 50,695,174 (GRCm39) |
E324* |
probably null |
Het |
| U2surp |
C |
T |
9: 95,366,496 (GRCm39) |
V470I |
probably benign |
Het |
| Wdr18 |
G |
A |
10: 79,803,336 (GRCm39) |
R400H |
probably benign |
Het |
| Zfp119b |
T |
A |
17: 56,245,671 (GRCm39) |
H505L |
probably damaging |
Het |
| Zfp619 |
T |
A |
7: 39,186,221 (GRCm39) |
C750* |
probably null |
Het |
| Zfr |
T |
C |
15: 12,160,677 (GRCm39) |
I750T |
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 |
|
|
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'- GCAGCTCAGTGTCCCAATCTCAAG -3'
(R):5'- TAAATGGCATCAGGAGCCCGAGTC -3'
Sequencing Primer
(F):5'- GTGTCCCAATCTCAAGAACACC -3'
(R):5'- GTGACACCTGGCTCCATTAG -3'
|
| Posted On |
2013-04-24 |
Incidental Mutation