Incidental Mutation 'R4255:Rabl6'
| ID |
321765 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rabl6
|
| Ensembl Gene |
ENSMUSG00000015087 |
| Gene Name |
RAB, member RAS oncogene family-like 6 |
| Synonyms |
Rbel1a, Rbel1b, Rbel1, B230208H17Rik |
| MMRRC Submission |
041068-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4255 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
25473029-25498493 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 25474791 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Lysine
at position 640
(E640K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000058746
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058137]
[ENSMUST00000114217]
[ENSMUST00000188161]
[ENSMUST00000191602]
[ENSMUST00000187017]
|
| AlphaFold |
Q5U3K5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000058137
AA Change: E640K
PolyPhen 2
Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000058746
Gene: ENSMUSG00000015087
AA Change: E640K
| 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: ENSMUST00000150206
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146012
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181730
|
| 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: 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: ENSMUST00000187017
|
| Meta Mutation Damage Score |
0.0748 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
93% (50/54) |
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb11 |
T |
C |
2: 69,136,949 (GRCm39) |
I171V |
probably benign |
Het |
| Actc1 |
T |
C |
2: 113,879,697 (GRCm39) |
N254S |
probably benign |
Het |
| Adgrg1 |
T |
G |
8: 95,732,530 (GRCm39) |
|
probably null |
Het |
| Ankrd7 |
T |
A |
6: 18,869,880 (GRCm39) |
|
probably null |
Het |
| Baz2b |
T |
C |
2: 59,750,916 (GRCm39) |
|
probably benign |
Het |
| Brca2 |
A |
G |
5: 150,464,634 (GRCm39) |
E1466G |
possibly damaging |
Het |
| Dagla |
G |
A |
19: 10,234,316 (GRCm39) |
R332* |
probably null |
Het |
| Dnah5 |
T |
A |
15: 28,438,248 (GRCm39) |
S3960T |
probably benign |
Het |
| Dnhd1 |
T |
A |
7: 105,362,205 (GRCm39) |
L3689M |
probably damaging |
Het |
| Epn1 |
T |
A |
7: 5,100,637 (GRCm39) |
L530Q |
probably damaging |
Het |
| Fgf17 |
C |
A |
14: 70,879,162 (GRCm39) |
|
probably null |
Het |
| Fgfr4 |
G |
A |
13: 55,314,064 (GRCm39) |
V593M |
probably damaging |
Het |
| Fmo4 |
A |
G |
1: 162,621,895 (GRCm39) |
C439R |
probably benign |
Het |
| Fndc3b |
T |
C |
3: 27,555,556 (GRCm39) |
K333E |
possibly damaging |
Het |
| Gpc6 |
A |
G |
14: 118,188,553 (GRCm39) |
T396A |
probably benign |
Het |
| Igkv3-2 |
T |
A |
6: 70,676,045 (GRCm39) |
V118D |
probably benign |
Het |
| Mtbp |
C |
A |
15: 55,484,081 (GRCm39) |
S470R |
possibly damaging |
Het |
| Myh8 |
A |
G |
11: 67,190,560 (GRCm39) |
D1295G |
probably benign |
Het |
| Myo1h |
T |
C |
5: 114,468,198 (GRCm39) |
I331T |
possibly damaging |
Het |
| Myo7a |
T |
G |
7: 97,721,171 (GRCm39) |
M1265L |
probably damaging |
Het |
| Or13a18 |
C |
A |
7: 140,190,500 (GRCm39) |
Y132* |
probably null |
Het |
| Or2ak7 |
A |
T |
11: 58,574,791 (GRCm39) |
I31F |
probably damaging |
Het |
| Or2o1 |
G |
A |
11: 49,051,262 (GRCm39) |
W140* |
probably null |
Het |
| Pak1ip1 |
A |
G |
13: 41,164,632 (GRCm39) |
|
probably benign |
Het |
| Pcdha11 |
A |
G |
18: 37,145,843 (GRCm39) |
T645A |
probably benign |
Het |
| Peg12 |
A |
G |
7: 62,113,479 (GRCm39) |
I206T |
possibly damaging |
Het |
| Pkhd1 |
A |
G |
1: 20,664,158 (GRCm39) |
V140A |
probably damaging |
Het |
| Pramel29 |
T |
A |
4: 143,934,054 (GRCm39) |
D351V |
possibly damaging |
Het |
| Prrc2c |
C |
A |
1: 162,533,895 (GRCm39) |
|
probably benign |
Het |
| Ptprk |
A |
G |
10: 28,082,241 (GRCm39) |
E70G |
probably benign |
Het |
| Rasd2 |
G |
A |
8: 75,948,538 (GRCm39) |
E155K |
probably damaging |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Sdf4 |
A |
G |
4: 156,085,214 (GRCm39) |
H183R |
probably benign |
Het |
| Slc12a9 |
C |
T |
5: 137,319,694 (GRCm39) |
R607H |
probably damaging |
Het |
| Slc38a1 |
T |
C |
15: 96,483,431 (GRCm39) |
D299G |
probably benign |
Het |
| Slc4a10 |
A |
G |
2: 62,112,280 (GRCm39) |
N657S |
probably benign |
Het |
| Spata31d1c |
C |
G |
13: 65,183,502 (GRCm39) |
S348* |
probably null |
Het |
| Spata31d1c |
T |
C |
13: 65,183,531 (GRCm39) |
F358L |
probably benign |
Het |
| Srbd1 |
A |
T |
17: 86,410,350 (GRCm39) |
S527R |
possibly damaging |
Het |
| Stag3 |
T |
C |
5: 138,289,143 (GRCm39) |
V243A |
probably damaging |
Het |
| Tefm |
A |
T |
11: 80,031,075 (GRCm39) |
S54T |
probably damaging |
Het |
| Terf1 |
T |
C |
1: 15,875,903 (GRCm39) |
M1T |
probably null |
Het |
| Thsd7b |
G |
A |
1: 129,688,024 (GRCm39) |
S645N |
possibly damaging |
Het |
| Trmt13 |
G |
T |
3: 116,376,337 (GRCm39) |
S285* |
probably null |
Het |
| Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
| Ush2a |
C |
T |
1: 188,492,040 (GRCm39) |
R3110* |
probably null |
Het |
| Vnn3 |
T |
C |
10: 23,741,720 (GRCm39) |
Y342H |
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 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGACTATTCTGGACCACACTTG -3'
(R):5'- TCGTAAGTGAACTTGCCAACC -3'
Sequencing Primer
(F):5'- CACACTTGGGTGCACATTTG -3'
(R):5'- GTAAGTGAACTTGCCAACCTTGTTTC -3'
|
| Posted On |
2015-06-20 |
Incidental Mutation