Incidental Mutation 'R0681:Rab26'
| ID |
208425 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rab26
|
| Ensembl Gene |
ENSMUSG00000079657 |
| Gene Name |
RAB26, member RAS oncogene family |
| Synonyms |
A830020M03Rik |
| MMRRC Submission |
038866-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.110)
|
| Stock # |
R0681 (G1)
|
| Quality Score |
65 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
24748038-24752696 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
A to G
at 24746940 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]
[ENSMUST00000176237]
[ENSMUST00000177154]
[ENSMUST00000177193]
[ENSMUST00000176324]
[ENSMUST00000177025]
[ENSMUST00000176353]
[ENSMUST00000176652]
[ENSMUST00000176668]
[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 |
noncoding transcript
Transcript: ENSMUST00000176361
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176434
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176921
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176215
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177139
|
| 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 |
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: 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: 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 |
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 |
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 |
0.0898 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.3%
|
| Validation Efficiency |
100% (68/68) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrl1 |
G |
T |
8: 84,661,279 (GRCm39) |
|
probably benign |
Het |
| Adgrv1 |
C |
A |
13: 81,676,649 (GRCm39) |
D1341Y |
probably damaging |
Het |
| Ahdc1 |
T |
C |
4: 132,792,827 (GRCm39) |
F1356S |
possibly damaging |
Het |
| Cdk13 |
A |
G |
13: 17,895,882 (GRCm39) |
|
probably benign |
Het |
| Cfhr1 |
A |
T |
1: 139,485,249 (GRCm39) |
S66T |
probably damaging |
Het |
| Cldn6 |
C |
A |
17: 23,900,167 (GRCm39) |
Q44K |
probably damaging |
Het |
| Cntnap5c |
T |
C |
17: 58,612,550 (GRCm39) |
V863A |
possibly damaging |
Het |
| Col6a4 |
T |
A |
9: 105,944,343 (GRCm39) |
K1044* |
probably null |
Het |
| Cyb561d1 |
A |
G |
3: 108,106,583 (GRCm39) |
V212A |
probably benign |
Het |
| Cyp1b1 |
A |
G |
17: 80,021,275 (GRCm39) |
S156P |
probably damaging |
Het |
| Dock7 |
G |
A |
4: 98,904,941 (GRCm39) |
H645Y |
probably damaging |
Het |
| Dpp3 |
T |
C |
19: 4,964,682 (GRCm39) |
N542D |
probably damaging |
Het |
| Fastkd3 |
C |
T |
13: 68,740,047 (GRCm39) |
|
probably benign |
Het |
| Galnt10 |
T |
A |
11: 57,660,366 (GRCm39) |
V268D |
probably damaging |
Het |
| Grb14 |
G |
T |
2: 64,747,631 (GRCm39) |
A10E |
probably damaging |
Het |
| Grin2c |
A |
G |
11: 115,140,479 (GRCm39) |
V1213A |
probably benign |
Het |
| Grip1 |
C |
T |
10: 119,846,135 (GRCm39) |
T570I |
probably damaging |
Het |
| Hif1an |
T |
C |
19: 44,551,762 (GRCm39) |
Y71H |
probably benign |
Het |
| Hsd17b11 |
T |
A |
5: 104,151,072 (GRCm39) |
I221L |
probably benign |
Het |
| Htra1 |
A |
T |
7: 130,581,027 (GRCm39) |
|
probably benign |
Het |
| Igfn1 |
T |
C |
1: 135,891,591 (GRCm39) |
E2308G |
possibly damaging |
Het |
| Mapk9 |
T |
A |
11: 49,760,072 (GRCm39) |
S129T |
probably damaging |
Het |
| Med22 |
T |
C |
2: 26,800,391 (GRCm39) |
T13A |
probably benign |
Het |
| Miox |
C |
T |
15: 89,220,477 (GRCm39) |
L189F |
possibly damaging |
Het |
| Mtus1 |
A |
T |
8: 41,446,554 (GRCm39) |
L489Q |
probably damaging |
Het |
| Naprt |
G |
A |
15: 75,765,481 (GRCm39) |
P120S |
probably damaging |
Het |
| Nwd1 |
C |
T |
8: 73,388,965 (GRCm39) |
P172L |
probably damaging |
Het |
| Ogfod2 |
A |
G |
5: 124,250,907 (GRCm39) |
E62G |
probably null |
Het |
| Or13a1 |
A |
T |
6: 116,471,361 (GRCm39) |
S264C |
probably damaging |
Het |
| Or5b12b |
A |
G |
19: 12,861,910 (GRCm39) |
T222A |
probably damaging |
Het |
| Or5b12b |
T |
C |
19: 12,861,443 (GRCm39) |
L66P |
probably damaging |
Het |
| Palm |
A |
C |
10: 79,655,327 (GRCm39) |
T362P |
probably benign |
Het |
| Pcare |
T |
G |
17: 72,056,509 (GRCm39) |
H1056P |
probably benign |
Het |
| Pcdh8 |
T |
C |
14: 80,007,400 (GRCm39) |
T388A |
probably benign |
Het |
| Pclo |
A |
G |
5: 14,725,332 (GRCm39) |
I1397V |
unknown |
Het |
| Per1 |
A |
G |
11: 68,992,027 (GRCm39) |
E127G |
probably damaging |
Het |
| Plekha1 |
T |
C |
7: 130,502,353 (GRCm39) |
V30A |
possibly damaging |
Het |
| Pramel24 |
A |
T |
4: 143,454,622 (GRCm39) |
T307S |
probably benign |
Het |
| Rasal2 |
T |
C |
1: 156,984,750 (GRCm39) |
D999G |
possibly damaging |
Het |
| Rfx5 |
C |
T |
3: 94,863,666 (GRCm39) |
T105I |
probably damaging |
Het |
| Rrp1b |
T |
C |
17: 32,279,369 (GRCm39) |
S677P |
probably damaging |
Het |
| Scaf4 |
G |
A |
16: 90,046,582 (GRCm39) |
P485S |
unknown |
Het |
| Scn5a |
A |
T |
9: 119,368,706 (GRCm39) |
M273K |
probably damaging |
Het |
| Sec22a |
C |
T |
16: 35,181,926 (GRCm39) |
|
probably null |
Het |
| Slc10a6 |
C |
A |
5: 103,760,315 (GRCm39) |
V227F |
possibly damaging |
Het |
| Slc39a3 |
C |
G |
10: 80,869,565 (GRCm39) |
E31Q |
probably benign |
Het |
| Spsb1 |
C |
T |
4: 149,991,374 (GRCm39) |
V65I |
probably benign |
Het |
| Tdrd7 |
T |
A |
4: 46,016,879 (GRCm39) |
M673K |
probably benign |
Het |
| Trim8 |
C |
A |
19: 46,503,532 (GRCm39) |
S361R |
possibly damaging |
Het |
| Ucp1 |
T |
A |
8: 84,021,936 (GRCm39) |
M256K |
possibly damaging |
Het |
| Vmn1r46 |
A |
T |
6: 89,953,946 (GRCm39) |
D265V |
probably damaging |
Het |
| Zbtb5 |
T |
C |
4: 44,993,787 (GRCm39) |
I532M |
probably 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 |
|
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'- AGGACTTATAGAGGCTGAGACCCCAG -3'
(R):5'- GCAATTTCCACCAATCGTACAGCG -3'
Sequencing Primer
(F):5'- CTAGGAGCAGCGACTTCAC -3'
(R):5'- ACCAATCGTACAGCGACTTTTG -3'
|
| Posted On |
2014-06-25 |
Incidental Mutation