Incidental Mutation 'IGL03296:Rab6a'
| ID |
416080 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Rab6a
|
| Ensembl Gene |
ENSMUSG00000030704 |
| Gene Name |
RAB6A, member RAS oncogene family |
| Synonyms |
2610028L11Rik, Rab6 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.905)
|
| Stock # |
IGL03296
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
100256778-100290475 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 100283931 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 128
(Y128H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102663
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032946]
[ENSMUST00000098252]
[ENSMUST00000107048]
|
| AlphaFold |
P35279 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000032946
AA Change: Y161H
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000032946
Gene: ENSMUSG00000030704
AA Change: Y161H
| Domain | Start | End | E-Value | Type |
|---|
|
RAB
|
14 |
177 |
6.24e-89 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000098252
AA Change: Y161H
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000095852
Gene: ENSMUSG00000030704
AA Change: Y161H
| Domain | Start | End | E-Value | Type |
|---|
|
RAB
|
14 |
177 |
5.52e-90 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107048
AA Change: Y128H
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000102663
Gene: ENSMUSG00000030704
AA Change: Y128H
| Domain | Start | End | E-Value | Type |
|---|
|
RAB
|
1 |
144 |
2.57e-67 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123960
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the RAB family, which belongs to the small GTPase superfamily. GTPases of the RAB family bind to various effectors to regulate the targeting and fusion of transport carriers to acceptor compartments. This protein is located at the Golgi apparatus, which regulates trafficking in both a retrograde (from early endosomes and Golgi to the endoplasmic reticulum) and an anterograde (from the Golgi to the plasma membrane) directions. Myosin II is an effector of this protein in these processes. This protein is also involved in assembly of human cytomegalovirus (HCMV) by interacting with the cellular protein Bicaudal D1, which interacts with the HCMV virion tegument protein, pp150. Multiple alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2011]
PHENOTYPE: Mice homozygous for a knock-out allele die aroound E6 with disorganized epiblast. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrf1 |
T |
C |
17: 43,632,044 (GRCm39) |
|
probably benign |
Het |
| Arhgef26 |
A |
G |
3: 62,330,926 (GRCm39) |
T547A |
probably damaging |
Het |
| Cdc14a |
T |
A |
3: 116,090,807 (GRCm39) |
H375L |
probably benign |
Het |
| Ddx43 |
T |
C |
9: 78,306,380 (GRCm39) |
|
probably null |
Het |
| Dennd6a |
T |
C |
14: 26,338,115 (GRCm39) |
|
probably null |
Het |
| Dock4 |
A |
T |
12: 40,783,256 (GRCm39) |
E730V |
possibly damaging |
Het |
| Gpr55 |
A |
G |
1: 85,868,753 (GRCm39) |
L276S |
probably damaging |
Het |
| Grid1 |
T |
C |
14: 35,302,524 (GRCm39) |
F930L |
possibly damaging |
Het |
| Inf2 |
C |
T |
12: 112,570,642 (GRCm39) |
Q394* |
probably null |
Het |
| Ints11 |
T |
C |
4: 155,969,780 (GRCm39) |
|
probably null |
Het |
| Kcnd2 |
T |
C |
6: 21,714,208 (GRCm39) |
V397A |
probably damaging |
Het |
| Lmntd1 |
A |
G |
6: 145,359,203 (GRCm39) |
F316L |
probably benign |
Het |
| Loxl4 |
A |
T |
19: 42,587,262 (GRCm39) |
|
probably benign |
Het |
| Lrrc37a |
C |
T |
11: 103,388,499 (GRCm39) |
E2309K |
unknown |
Het |
| Lyl1 |
C |
T |
8: 85,429,300 (GRCm39) |
P3L |
possibly damaging |
Het |
| Mindy4 |
T |
C |
6: 55,274,738 (GRCm39) |
|
probably null |
Het |
| Mybpc2 |
A |
T |
7: 44,156,308 (GRCm39) |
I835N |
probably damaging |
Het |
| Myo5a |
T |
C |
9: 75,023,484 (GRCm39) |
I15T |
probably damaging |
Het |
| Nfkb2 |
A |
T |
19: 46,298,367 (GRCm39) |
D557V |
probably damaging |
Het |
| Or11g27 |
A |
T |
14: 50,771,402 (GRCm39) |
I178L |
possibly damaging |
Het |
| Pdk3 |
T |
C |
X: 92,875,503 (GRCm39) |
Y19C |
probably damaging |
Het |
| Pdpr |
G |
T |
8: 111,841,430 (GRCm39) |
V221F |
probably damaging |
Het |
| Rars1 |
A |
T |
11: 35,707,523 (GRCm39) |
Y429* |
probably null |
Het |
| Rsl24d1 |
T |
C |
9: 73,025,229 (GRCm39) |
|
probably null |
Het |
| Slc7a9 |
T |
C |
7: 35,151,852 (GRCm39) |
F49S |
probably damaging |
Het |
| St14 |
C |
T |
9: 31,020,008 (GRCm39) |
E34K |
probably damaging |
Het |
| Tcp10b |
A |
G |
17: 13,292,443 (GRCm39) |
T289A |
probably damaging |
Het |
| Tenm2 |
T |
C |
11: 35,942,852 (GRCm39) |
|
probably null |
Het |
| Tshz3 |
A |
T |
7: 36,470,761 (GRCm39) |
T917S |
probably damaging |
Het |
| Vrtn |
T |
A |
12: 84,695,622 (GRCm39) |
I124N |
probably damaging |
Het |
| Vwa8 |
A |
G |
14: 79,420,540 (GRCm39) |
E1747G |
probably damaging |
Het |
| Wdr33 |
A |
T |
18: 31,960,444 (GRCm39) |
Q36L |
probably benign |
Het |
| Xpo5 |
C |
T |
17: 46,532,320 (GRCm39) |
R452* |
probably null |
Het |
| Zdhhc8 |
A |
T |
16: 18,044,587 (GRCm39) |
L311Q |
possibly damaging |
Het |
|
| Other mutations in Rab6a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00660:Rab6a
|
APN |
7 |
100,288,456 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02451:Rab6a
|
APN |
7 |
100,285,970 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3806:Rab6a
|
UTSW |
7 |
100,257,431 (GRCm39) |
start codon destroyed |
probably null |
0.09 |
|
R4948:Rab6a
|
UTSW |
7 |
100,277,627 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5593:Rab6a
|
UTSW |
7 |
100,257,378 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R5655:Rab6a
|
UTSW |
7 |
100,257,501 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5891:Rab6a
|
UTSW |
7 |
100,288,454 (GRCm39) |
splice site |
probably null |
|
|
R6816:Rab6a
|
UTSW |
7 |
100,279,080 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7070:Rab6a
|
UTSW |
7 |
100,279,064 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7178:Rab6a
|
UTSW |
7 |
100,285,959 (GRCm39) |
nonsense |
probably null |
|
|
R7563:Rab6a
|
UTSW |
7 |
100,257,404 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R8816:Rab6a
|
UTSW |
7 |
100,279,145 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R8831:Rab6a
|
UTSW |
7 |
100,283,931 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9214:Rab6a
|
UTSW |
7 |
100,275,786 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9276:Rab6a
|
UTSW |
7 |
100,275,809 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9292:Rab6a
|
UTSW |
7 |
100,285,963 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9315:Rab6a
|
UTSW |
7 |
100,281,017 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation