Incidental Mutation 'IGL02636:Rab26'
ID |
301513 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
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)
|
Stock # |
IGL02636
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
24748038-24752696 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 24752533 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Glycine
at position 9
(S9G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000055970
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035797]
[ENSMUST00000061764]
[ENSMUST00000176533]
|
AlphaFold |
Q504M8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000035797
AA Change: S9G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000046089 Gene: ENSMUSG00000079657 AA Change: S9G
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
AA Change: S9G
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
SMART Domains |
Protein: ENSMUSP00000055970 Gene: ENSMUSG00000079657 AA Change: S9G
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: ENSMUST00000176025
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176215
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000176533
AA Change: S44G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000135775 Gene: ENSMUSG00000079657 AA Change: S44G
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: ENSMUST00000177441
|
Coding Region Coverage |
|
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: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Alms1 |
C |
A |
6: 85,605,636 (GRCm39) |
Q1960K |
probably benign |
Het |
Arhgef40 |
T |
A |
14: 52,234,865 (GRCm39) |
V1056E |
probably damaging |
Het |
Cdh26 |
T |
A |
2: 178,091,755 (GRCm39) |
F105I |
probably damaging |
Het |
Cep162 |
A |
T |
9: 87,130,432 (GRCm39) |
D59E |
possibly damaging |
Het |
Cngb3 |
A |
T |
4: 19,396,690 (GRCm39) |
T348S |
probably damaging |
Het |
Eci3 |
A |
T |
13: 35,130,963 (GRCm39) |
|
probably null |
Het |
Gapvd1 |
A |
G |
2: 34,615,416 (GRCm39) |
I409T |
probably benign |
Het |
Golga2 |
T |
C |
2: 32,186,735 (GRCm39) |
|
probably null |
Het |
Hoxd3 |
G |
A |
2: 74,577,298 (GRCm39) |
A393T |
probably benign |
Het |
Htr5a |
T |
C |
5: 28,047,658 (GRCm39) |
F71S |
probably damaging |
Het |
Hyou1 |
T |
C |
9: 44,292,707 (GRCm39) |
|
probably null |
Het |
Igsf6 |
C |
A |
7: 120,666,503 (GRCm39) |
|
probably benign |
Het |
Klrb1c |
C |
A |
6: 128,765,515 (GRCm39) |
C25F |
probably benign |
Het |
Lrguk |
C |
A |
6: 34,067,123 (GRCm39) |
T483K |
probably damaging |
Het |
Lrpprc |
A |
T |
17: 85,060,532 (GRCm39) |
|
probably benign |
Het |
Lrrk1 |
A |
T |
7: 65,958,407 (GRCm39) |
|
probably null |
Het |
Megf8 |
G |
A |
7: 25,057,857 (GRCm39) |
G2098D |
probably damaging |
Het |
Nfkbia |
T |
C |
12: 55,537,958 (GRCm39) |
Q165R |
possibly damaging |
Het |
Nipsnap2 |
A |
G |
5: 129,822,354 (GRCm39) |
|
probably benign |
Het |
Phykpl |
C |
T |
11: 51,489,540 (GRCm39) |
T382I |
probably damaging |
Het |
Prdm10 |
A |
G |
9: 31,240,977 (GRCm39) |
D206G |
possibly damaging |
Het |
Sema3e |
C |
A |
5: 14,275,670 (GRCm39) |
N258K |
probably benign |
Het |
Slfn10-ps |
T |
A |
11: 82,920,971 (GRCm39) |
|
noncoding transcript |
Het |
Tgm5 |
A |
T |
2: 120,907,277 (GRCm39) |
C149S |
probably damaging |
Het |
Timp4 |
C |
T |
6: 115,226,785 (GRCm39) |
|
probably null |
Het |
Traf7 |
T |
C |
17: 24,731,964 (GRCm39) |
K251E |
probably benign |
Het |
Ugcg |
G |
T |
4: 59,207,763 (GRCm39) |
R34L |
possibly damaging |
Het |
Unc13d |
T |
C |
11: 115,964,444 (GRCm39) |
H300R |
probably damaging |
Het |
Vmn1r20 |
G |
T |
6: 57,408,746 (GRCm39) |
C24F |
probably benign |
Het |
Vmn2r13 |
T |
C |
5: 109,339,883 (GRCm39) |
R31G |
probably damaging |
Het |
Vsig10l |
A |
G |
7: 43,113,002 (GRCm39) |
T87A |
possibly damaging |
Het |
Zfp353-ps |
T |
A |
8: 42,535,477 (GRCm39) |
|
noncoding transcript |
Het |
|
Other mutations in Rab26 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
|
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 |
|
Posted On |
2015-04-16 |