Incidental Mutation 'IGL02424:Rabl6'
| ID |
292820 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Rabl6
|
| Ensembl Gene |
ENSMUSG00000015087 |
| Gene Name |
RAB, member RAS oncogene family-like 6 |
| Synonyms |
Rbel1a, Rbel1b, Rbel1, B230208H17Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02424
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
25473029-25498493 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 25477469 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 327
(V327A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000058746
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058137]
|
| AlphaFold |
Q5U3K5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000058137
AA Change: V327A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000058746
Gene: ENSMUSG00000015087
AA Change: V327A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ras
|
45 |
108 |
1.5e-7 |
PFAM |
|
Pfam:Roc
|
45 |
112 |
2.2e-8 |
PFAM |
|
low complexity region
|
232 |
245 |
N/A |
INTRINSIC |
|
low complexity region
|
291 |
325 |
N/A |
INTRINSIC |
|
low complexity region
|
343 |
364 |
N/A |
INTRINSIC |
|
low complexity region
|
378 |
397 |
N/A |
INTRINSIC |
|
low complexity region
|
480 |
492 |
N/A |
INTRINSIC |
|
coiled coil region
|
653 |
669 |
N/A |
INTRINSIC |
|
low complexity region
|
708 |
720 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128942
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135084
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140635
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140778
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143855
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146012
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150206
|
| 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 Ras superfamily of small GTPases. The encoded protein binds to both GTP and GDP and may play a role in cell growth and survival. Overexpression of this gene may play a role in breast cancer tumorigenesis, and pseudogenes of this gene are located on the long arm of chromosome 2 and the short arm of chromosome 18. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]
|
| Allele List at MGI |
All alleles(2) : Targeted, other(2) |
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930579F01Rik |
A |
G |
3: 137,880,466 (GRCm39) |
|
probably benign |
Het |
| A930011G23Rik |
A |
G |
5: 99,377,236 (GRCm39) |
S404P |
probably damaging |
Het |
| A930011G23Rik |
G |
A |
5: 99,377,241 (GRCm39) |
P402L |
probably damaging |
Het |
| Abl1 |
G |
A |
2: 31,691,144 (GRCm39) |
V888I |
probably benign |
Het |
| Adcy9 |
G |
T |
16: 4,106,461 (GRCm39) |
N884K |
probably damaging |
Het |
| Alyref |
T |
C |
11: 120,486,133 (GRCm39) |
N176D |
probably benign |
Het |
| Amtn |
T |
C |
5: 88,529,456 (GRCm39) |
|
probably benign |
Het |
| Baz1b |
T |
C |
5: 135,246,833 (GRCm39) |
Y761H |
probably damaging |
Het |
| Cckar |
T |
A |
5: 53,863,770 (GRCm39) |
T64S |
possibly damaging |
Het |
| Csmd1 |
A |
G |
8: 16,142,340 (GRCm39) |
F1521S |
probably benign |
Het |
| Cyp11b1 |
T |
C |
15: 74,711,085 (GRCm39) |
T198A |
probably benign |
Het |
| Def8 |
G |
T |
8: 124,186,387 (GRCm39) |
L399F |
possibly damaging |
Het |
| Epha7 |
A |
T |
4: 28,948,790 (GRCm39) |
|
probably benign |
Het |
| Ets1 |
T |
A |
9: 32,665,589 (GRCm39) |
Y181* |
probably null |
Het |
| Fas |
A |
T |
19: 34,304,434 (GRCm39) |
M232L |
probably damaging |
Het |
| Fkbp10 |
T |
A |
11: 100,306,782 (GRCm39) |
V37E |
probably damaging |
Het |
| Galnt3 |
A |
G |
2: 65,926,132 (GRCm39) |
|
probably null |
Het |
| Gdap1 |
T |
C |
1: 17,231,402 (GRCm39) |
V249A |
probably damaging |
Het |
| Gm5356 |
T |
A |
8: 89,913,594 (GRCm39) |
|
noncoding transcript |
Het |
| Gm7732 |
A |
G |
17: 21,349,709 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr3 |
G |
T |
4: 132,938,405 (GRCm39) |
A89E |
probably damaging |
Het |
| Kat2a |
A |
G |
11: 100,601,973 (GRCm39) |
|
probably null |
Het |
| Kit |
T |
G |
5: 75,799,766 (GRCm39) |
D499E |
probably benign |
Het |
| Kmt2a |
C |
T |
9: 44,735,932 (GRCm39) |
|
probably benign |
Het |
| Med12l |
T |
C |
3: 59,000,143 (GRCm39) |
L666P |
probably benign |
Het |
| Mmp2 |
T |
G |
8: 93,562,635 (GRCm39) |
C291G |
probably damaging |
Het |
| Neb |
A |
G |
2: 52,154,203 (GRCm39) |
Y2303H |
probably damaging |
Het |
| Or14a259 |
C |
A |
7: 86,012,688 (GRCm39) |
V286L |
probably benign |
Het |
| Or1d2 |
T |
A |
11: 74,256,299 (GRCm39) |
M268K |
probably benign |
Het |
| Or1o2 |
T |
C |
17: 37,543,263 (GRCm39) |
|
probably benign |
Het |
| Pde1b |
T |
A |
15: 103,436,646 (GRCm39) |
|
probably benign |
Het |
| Prl7a2 |
A |
C |
13: 27,851,953 (GRCm39) |
C9G |
probably null |
Het |
| Robo2 |
T |
A |
16: 73,770,189 (GRCm39) |
I516F |
possibly damaging |
Het |
| Ror2 |
C |
T |
13: 53,264,764 (GRCm39) |
S764N |
probably damaging |
Het |
| Slc35a3 |
G |
A |
3: 116,488,267 (GRCm39) |
T140I |
possibly damaging |
Het |
| Slc38a7 |
A |
G |
8: 96,568,200 (GRCm39) |
V395A |
probably damaging |
Het |
| Stag3 |
T |
A |
5: 138,280,247 (GRCm39) |
C37* |
probably null |
Het |
| Stag3 |
T |
C |
5: 138,289,628 (GRCm39) |
L266P |
probably damaging |
Het |
| Strn |
A |
G |
17: 78,991,780 (GRCm39) |
S180P |
probably damaging |
Het |
| Sulf1 |
A |
G |
1: 12,867,064 (GRCm39) |
T83A |
probably benign |
Het |
| Vmn1r69 |
T |
C |
7: 10,314,585 (GRCm39) |
I49V |
probably benign |
Het |
| Vrk2 |
G |
A |
11: 26,426,564 (GRCm39) |
P387L |
probably benign |
Het |
| Xdh |
A |
T |
17: 74,233,565 (GRCm39) |
M183K |
probably benign |
Het |
|
| Other mutations in Rabl6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00737:Rabl6
|
APN |
2 |
25,474,132 (GRCm39) |
unclassified |
probably benign |
|
|
IGL00742:Rabl6
|
APN |
2 |
25,478,699 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02231:Rabl6
|
APN |
2 |
25,488,196 (GRCm39) |
missense |
probably benign |
0.41 |
|
IGL02514:Rabl6
|
APN |
2 |
25,498,188 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL03036:Rabl6
|
APN |
2 |
25,474,868 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03278:Rabl6
|
APN |
2 |
25,473,834 (GRCm39) |
unclassified |
probably benign |
|
|
R0017:Rabl6
|
UTSW |
2 |
25,492,579 (GRCm39) |
splice site |
probably benign |
|
|
R0269:Rabl6
|
UTSW |
2 |
25,476,878 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0442:Rabl6
|
UTSW |
2 |
25,477,534 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0617:Rabl6
|
UTSW |
2 |
25,476,878 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0626:Rabl6
|
UTSW |
2 |
25,482,778 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1109:Rabl6
|
UTSW |
2 |
25,477,538 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2034:Rabl6
|
UTSW |
2 |
25,475,444 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R3914:Rabl6
|
UTSW |
2 |
25,478,718 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R4255:Rabl6
|
UTSW |
2 |
25,474,791 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R5177:Rabl6
|
UTSW |
2 |
25,475,385 (GRCm39) |
missense |
probably benign |
0.18 |
|
R5389:Rabl6
|
UTSW |
2 |
25,478,666 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6082:Rabl6
|
UTSW |
2 |
25,473,837 (GRCm39) |
unclassified |
probably benign |
|
|
R6243:Rabl6
|
UTSW |
2 |
25,475,415 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6430:Rabl6
|
UTSW |
2 |
25,474,849 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6501:Rabl6
|
UTSW |
2 |
25,492,459 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7485:Rabl6
|
UTSW |
2 |
25,474,153 (GRCm39) |
missense |
unknown |
|
|
R7839:Rabl6
|
UTSW |
2 |
25,482,829 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7889:Rabl6
|
UTSW |
2 |
25,474,786 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8978:Rabl6
|
UTSW |
2 |
25,477,541 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9106:Rabl6
|
UTSW |
2 |
25,486,446 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9439:Rabl6
|
UTSW |
2 |
25,492,432 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation