Incidental Mutation 'IGL03278:Rabl6'
| ID |
415499 |
| 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 # |
IGL03278
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
25473029-25498493 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
T to C
at 25473834 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140109
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058137]
[ENSMUST00000114217]
[ENSMUST00000191602]
[ENSMUST00000188161]
[ENSMUST00000187017]
|
| AlphaFold |
Q5U3K5 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000058137
AA Change: H716R
|
| SMART Domains |
Protein: ENSMUSP00000058746
Gene: ENSMUSG00000015087
AA Change: H716R
| 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 |
probably benign
Transcript: ENSMUST00000114217
|
| SMART Domains |
Protein: ENSMUSP00000109855
Gene: ENSMUSG00000029419
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
61 |
92 |
N/A |
INTRINSIC |
|
low complexity region
|
173 |
182 |
N/A |
INTRINSIC |
|
low complexity region
|
271 |
284 |
N/A |
INTRINSIC |
|
low complexity region
|
307 |
326 |
N/A |
INTRINSIC |
|
low complexity region
|
617 |
636 |
N/A |
INTRINSIC |
|
low complexity region
|
815 |
843 |
N/A |
INTRINSIC |
|
low complexity region
|
880 |
894 |
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: ENSMUST00000181730
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146012
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150206
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000191602
|
| SMART Domains |
Protein: ENSMUSP00000140109
Gene: ENSMUSG00000029419
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
61 |
92 |
N/A |
INTRINSIC |
|
low complexity region
|
173 |
182 |
N/A |
INTRINSIC |
|
low complexity region
|
271 |
284 |
N/A |
INTRINSIC |
|
low complexity region
|
307 |
326 |
N/A |
INTRINSIC |
|
low complexity region
|
617 |
636 |
N/A |
INTRINSIC |
|
low complexity region
|
815 |
843 |
N/A |
INTRINSIC |
|
low complexity region
|
880 |
894 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000188161
|
| SMART Domains |
Protein: ENSMUSP00000140763
Gene: ENSMUSG00000029419
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
61 |
92 |
N/A |
INTRINSIC |
|
low complexity region
|
173 |
182 |
N/A |
INTRINSIC |
|
low complexity region
|
271 |
284 |
N/A |
INTRINSIC |
|
low complexity region
|
307 |
326 |
N/A |
INTRINSIC |
|
low complexity region
|
617 |
636 |
N/A |
INTRINSIC |
|
low complexity region
|
815 |
843 |
N/A |
INTRINSIC |
|
low complexity region
|
880 |
894 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000187017
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
T |
A |
12: 71,205,599 (GRCm39) |
|
probably benign |
Het |
| Acss2 |
A |
G |
2: 155,403,921 (GRCm39) |
D676G |
possibly damaging |
Het |
| Antxr1 |
A |
G |
6: 87,181,439 (GRCm39) |
|
probably benign |
Het |
| Ccdc134 |
C |
T |
15: 82,015,682 (GRCm39) |
A54V |
possibly damaging |
Het |
| Ccdc40 |
A |
T |
11: 119,133,336 (GRCm39) |
I465F |
probably damaging |
Het |
| Cdk5rap1 |
A |
T |
2: 154,212,622 (GRCm39) |
S79T |
probably benign |
Het |
| Col6a6 |
T |
C |
9: 105,586,651 (GRCm39) |
E1790G |
probably benign |
Het |
| Cops8 |
C |
A |
1: 90,532,087 (GRCm39) |
|
probably null |
Het |
| Dnah7a |
T |
C |
1: 53,536,124 (GRCm39) |
T2640A |
probably benign |
Het |
| F2 |
G |
A |
2: 91,465,527 (GRCm39) |
A86V |
probably benign |
Het |
| Fhip1b |
C |
A |
7: 105,034,331 (GRCm39) |
M433I |
possibly damaging |
Het |
| Gabrb1 |
T |
G |
5: 72,026,939 (GRCm39) |
D113E |
probably damaging |
Het |
| Git2 |
C |
A |
5: 114,883,640 (GRCm39) |
|
probably benign |
Het |
| Git2 |
A |
T |
5: 114,883,641 (GRCm39) |
|
probably null |
Het |
| Gm4847 |
A |
T |
1: 166,462,605 (GRCm39) |
I295N |
probably benign |
Het |
| H2-M10.6 |
C |
A |
17: 37,124,715 (GRCm39) |
H211N |
probably damaging |
Het |
| Hmgcr |
A |
G |
13: 96,793,270 (GRCm39) |
|
probably benign |
Het |
| Larp1 |
T |
C |
11: 57,934,882 (GRCm39) |
|
probably benign |
Het |
| Lrguk |
A |
G |
6: 34,093,381 (GRCm39) |
E634G |
possibly damaging |
Het |
| Nanog |
A |
G |
6: 122,688,704 (GRCm39) |
Y95C |
probably damaging |
Het |
| Nelfcd |
G |
A |
2: 174,268,625 (GRCm39) |
A559T |
possibly damaging |
Het |
| Nfe2l1 |
C |
A |
11: 96,713,018 (GRCm39) |
R55L |
probably benign |
Het |
| Or1f19 |
C |
T |
16: 3,410,971 (GRCm39) |
A237V |
possibly damaging |
Het |
| Pkmyt1 |
A |
G |
17: 23,953,221 (GRCm39) |
E259G |
probably damaging |
Het |
| Pld4 |
A |
G |
12: 112,733,165 (GRCm39) |
N247S |
probably damaging |
Het |
| Prdm4 |
A |
T |
10: 85,743,622 (GRCm39) |
M211K |
probably damaging |
Het |
| Rab37 |
A |
C |
11: 115,050,517 (GRCm39) |
I121L |
possibly damaging |
Het |
| Slc34a3 |
A |
T |
2: 25,122,059 (GRCm39) |
V154E |
probably benign |
Het |
| Slc38a9 |
T |
G |
13: 112,826,052 (GRCm39) |
|
probably benign |
Het |
| Sptlc3 |
G |
A |
2: 139,431,579 (GRCm39) |
G367D |
probably damaging |
Het |
| Stk24 |
T |
C |
14: 121,540,182 (GRCm39) |
K139R |
possibly damaging |
Het |
| Tacc2 |
T |
C |
7: 130,335,298 (GRCm39) |
|
probably null |
Het |
| Tap1 |
A |
T |
17: 34,410,457 (GRCm39) |
K378M |
probably damaging |
Het |
| Tfr2 |
A |
T |
5: 137,569,298 (GRCm39) |
R10* |
probably null |
Het |
| Trim38 |
A |
G |
13: 23,974,979 (GRCm39) |
D306G |
possibly damaging |
Het |
| Ttc6 |
A |
T |
12: 57,668,812 (GRCm39) |
K418I |
probably damaging |
Het |
| Ush2a |
T |
A |
1: 188,581,313 (GRCm39) |
L3731Q |
probably damaging |
Het |
| Vmn2r89 |
A |
T |
14: 51,692,557 (GRCm39) |
Y120F |
probably damaging |
Het |
| Vps35 |
A |
T |
8: 86,021,590 (GRCm39) |
|
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 |
|
IGL02424:Rabl6
|
APN |
2 |
25,477,469 (GRCm39) |
missense |
probably benign |
|
|
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 |
|
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 |
2016-08-02 |
Incidental Mutation