Incidental Mutation 'R3914:Rabl6'
| ID |
309545 |
| 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 |
040912-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3914 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
25473029-25498493 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 25478718 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 238
(T238A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000058746
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058137]
|
| AlphaFold |
Q5U3K5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000058137
AA Change: T238A
PolyPhen 2
Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000058746
Gene: ENSMUSG00000015087
AA Change: T238A
| 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
|
| Meta Mutation Damage Score |
0.1784 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
100% (36/36) |
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp8b2 |
A |
T |
3: 89,861,755 (GRCm39) |
I266N |
probably damaging |
Het |
| AU041133 |
G |
A |
10: 81,987,649 (GRCm39) |
R434Q |
probably damaging |
Het |
| Ccdc174 |
G |
T |
6: 91,876,338 (GRCm39) |
A392S |
possibly damaging |
Het |
| Cdh18 |
T |
C |
15: 23,410,771 (GRCm39) |
Y419H |
probably damaging |
Het |
| Col20a1 |
A |
G |
2: 180,640,285 (GRCm39) |
K509R |
probably benign |
Het |
| Csmd2 |
A |
T |
4: 128,215,117 (GRCm39) |
D513V |
probably benign |
Het |
| Disp1 |
A |
G |
1: 182,870,666 (GRCm39) |
F585L |
probably benign |
Het |
| Entpd7 |
G |
A |
19: 43,679,597 (GRCm39) |
R50Q |
probably benign |
Het |
| Exoc1 |
G |
A |
5: 76,691,408 (GRCm39) |
S244N |
possibly damaging |
Het |
| Fam234b |
A |
G |
6: 135,202,681 (GRCm39) |
D345G |
probably damaging |
Het |
| G530012D18Rik |
CAGAGAGA |
CAGAGAGAGA |
1: 85,504,945 (GRCm39) |
|
probably null |
Het |
| Gprc6a |
T |
A |
10: 51,504,371 (GRCm39) |
M158L |
probably benign |
Het |
| Hdc |
T |
C |
2: 126,444,926 (GRCm39) |
T255A |
probably damaging |
Het |
| Hps5 |
T |
C |
7: 46,432,950 (GRCm39) |
T257A |
probably damaging |
Het |
| Ice1 |
A |
G |
13: 70,754,203 (GRCm39) |
C628R |
probably benign |
Het |
| Igkv2-137 |
A |
T |
6: 67,532,968 (GRCm39) |
R44W |
probably damaging |
Het |
| Islr2 |
A |
T |
9: 58,105,666 (GRCm39) |
Y531* |
probably null |
Het |
| Mast4 |
G |
A |
13: 102,875,829 (GRCm39) |
R1112* |
probably null |
Het |
| Mrc2 |
T |
C |
11: 105,238,058 (GRCm39) |
|
probably benign |
Het |
| Myo19 |
G |
A |
11: 84,785,429 (GRCm39) |
R224H |
probably damaging |
Het |
| Nup58 |
A |
G |
14: 60,469,596 (GRCm39) |
M375T |
possibly damaging |
Het |
| Phaf1 |
A |
G |
8: 105,966,615 (GRCm39) |
N121D |
probably benign |
Het |
| Phldb2 |
T |
C |
16: 45,577,526 (GRCm39) |
E1133G |
probably damaging |
Het |
| Ranbp17 |
G |
A |
11: 33,429,189 (GRCm39) |
A352V |
probably benign |
Het |
| Riok3 |
A |
G |
18: 12,281,879 (GRCm39) |
I283V |
probably benign |
Het |
| Rrm1 |
A |
G |
7: 102,106,381 (GRCm39) |
Y300C |
probably damaging |
Het |
| Shoc1 |
T |
A |
4: 59,094,201 (GRCm39) |
R174S |
possibly damaging |
Het |
| Sipa1l3 |
T |
C |
7: 29,099,510 (GRCm39) |
D253G |
probably benign |
Het |
| Slc22a8 |
T |
A |
19: 8,585,550 (GRCm39) |
I305N |
probably damaging |
Het |
| Slc26a3 |
A |
T |
12: 31,503,905 (GRCm39) |
E303D |
probably benign |
Het |
| Slc32a1 |
C |
T |
2: 158,453,152 (GRCm39) |
|
probably benign |
Het |
| Tars3 |
C |
A |
7: 65,333,556 (GRCm39) |
Q585K |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,585,168 (GRCm39) |
I22042F |
probably damaging |
Het |
| Ubqlnl |
A |
G |
7: 103,798,813 (GRCm39) |
V228A |
probably benign |
Het |
| Wnt7b |
T |
A |
15: 85,422,059 (GRCm39) |
D201V |
possibly damaging |
Het |
| Xpot |
A |
T |
10: 121,440,443 (GRCm39) |
I596N |
possibly damaging |
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AAGTCTGGCACTCAGCTCTTATC -3'
(R):5'- TGCTAGTGACCAAAGATGTGG -3'
Sequencing Primer
(F):5'- ATCTGTGAACACTAGGGCCTACTG -3'
(R):5'- GAGCAGAAGGTGGCACTTTC -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation