Incidental Mutation 'R0442:Rabl6'
ID |
39201 |
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 |
038643-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0442 (G1)
|
Quality Score |
162 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
25473029-25498493 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 25477534 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Arginine
at position 305
(S305R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000058746
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058137]
|
AlphaFold |
Q5U3K5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000058137
AA Change: S305R
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000058746 Gene: ENSMUSG00000015087 AA Change: S305R
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 |
0.6467 |
Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.5%
- 10x: 93.4%
- 20x: 81.2%
|
Validation Efficiency |
99% (70/71) |
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: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrb3 |
T |
A |
1: 25,435,551 (GRCm39) |
N816Y |
probably damaging |
Het |
Arfgef3 |
T |
C |
10: 18,553,563 (GRCm39) |
|
probably benign |
Het |
Cd200 |
T |
A |
16: 45,217,518 (GRCm39) |
S58C |
probably damaging |
Het |
Cep128 |
C |
T |
12: 91,233,545 (GRCm39) |
E508K |
probably damaging |
Het |
Dnah2 |
C |
A |
11: 69,339,368 (GRCm39) |
L3046F |
probably damaging |
Het |
Duox2 |
T |
C |
2: 122,119,813 (GRCm39) |
N872D |
probably benign |
Het |
Fam90a1a |
C |
T |
8: 22,453,074 (GRCm39) |
T143I |
probably benign |
Het |
Fdft1 |
T |
C |
14: 63,400,798 (GRCm39) |
T112A |
probably benign |
Het |
Gimap9 |
G |
T |
6: 48,655,000 (GRCm39) |
G196* |
probably null |
Het |
Grhl1 |
G |
A |
12: 24,662,169 (GRCm39) |
R536Q |
probably damaging |
Het |
Gtpbp3 |
T |
A |
8: 71,944,135 (GRCm39) |
V293E |
probably damaging |
Het |
Hcn3 |
A |
T |
3: 89,058,847 (GRCm39) |
F251Y |
probably damaging |
Het |
Hectd4 |
T |
A |
5: 121,462,045 (GRCm39) |
C971S |
possibly damaging |
Het |
Helz2 |
T |
A |
2: 180,874,002 (GRCm39) |
D2164V |
probably damaging |
Het |
Hif1an |
T |
G |
19: 44,554,451 (GRCm39) |
L188R |
probably damaging |
Het |
Hjurp |
GT |
GTT |
1: 88,194,246 (GRCm39) |
|
probably null |
Het |
Iqgap3 |
C |
T |
3: 88,023,266 (GRCm39) |
P519L |
probably damaging |
Het |
Jakmip1 |
T |
G |
5: 37,292,897 (GRCm39) |
|
probably null |
Het |
Klra1 |
T |
C |
6: 130,349,835 (GRCm39) |
Y201C |
probably damaging |
Het |
Minpp1 |
T |
C |
19: 32,471,348 (GRCm39) |
F299L |
possibly damaging |
Het |
Myb |
A |
G |
10: 21,002,095 (GRCm39) |
S749P |
probably benign |
Het |
Myo3b |
T |
C |
2: 70,069,305 (GRCm39) |
|
probably null |
Het |
Naip1 |
T |
A |
13: 100,581,024 (GRCm39) |
R74S |
probably benign |
Het |
Nt5m |
A |
G |
11: 59,765,445 (GRCm39) |
T158A |
possibly damaging |
Het |
Obscn |
A |
T |
11: 58,893,000 (GRCm39) |
|
probably benign |
Het |
Or5af1 |
T |
A |
11: 58,722,257 (GRCm39) |
Y92* |
probably null |
Het |
Or5b119 |
T |
G |
19: 13,457,412 (GRCm39) |
D50A |
probably damaging |
Het |
Or6c210 |
T |
C |
10: 129,495,693 (GRCm39) |
I6T |
probably benign |
Het |
Otogl |
T |
A |
10: 107,712,716 (GRCm39) |
T543S |
probably damaging |
Het |
Pds5b |
T |
C |
5: 150,640,009 (GRCm39) |
|
probably benign |
Het |
Plekhm1 |
A |
G |
11: 103,288,000 (GRCm39) |
M49T |
possibly damaging |
Het |
Rad54b |
G |
A |
4: 11,609,480 (GRCm39) |
|
probably benign |
Het |
Rad54b |
C |
A |
4: 11,610,362 (GRCm39) |
R660S |
probably benign |
Het |
Rexo5 |
T |
C |
7: 119,442,508 (GRCm39) |
L542P |
probably damaging |
Het |
Rp1 |
C |
T |
1: 4,416,970 (GRCm39) |
D1381N |
probably benign |
Het |
Scnn1a |
T |
G |
6: 125,316,100 (GRCm39) |
M346R |
probably damaging |
Het |
Sirpb1c |
A |
G |
3: 15,856,710 (GRCm39) |
I380T |
probably benign |
Het |
Snrnp40 |
C |
G |
4: 130,271,836 (GRCm39) |
|
probably null |
Het |
Sstr3 |
A |
T |
15: 78,424,597 (GRCm39) |
L50Q |
probably damaging |
Het |
St3gal6 |
C |
A |
16: 58,293,816 (GRCm39) |
A238S |
probably damaging |
Het |
St3gal6 |
G |
T |
16: 58,293,818 (GRCm39) |
A237E |
probably damaging |
Het |
Sun5 |
T |
C |
2: 153,712,872 (GRCm39) |
D16G |
possibly damaging |
Het |
Svil |
A |
T |
18: 5,046,870 (GRCm39) |
T39S |
probably damaging |
Het |
Taar1 |
A |
G |
10: 23,796,380 (GRCm39) |
Y26C |
possibly damaging |
Het |
Ugt1a1 |
AT |
A |
1: 88,140,093 (GRCm39) |
|
probably null |
Het |
Use1 |
T |
C |
8: 71,819,702 (GRCm39) |
|
probably benign |
Het |
Usp54 |
T |
C |
14: 20,657,277 (GRCm39) |
Y7C |
probably damaging |
Het |
Zbtb37 |
A |
G |
1: 160,859,918 (GRCm39) |
F129S |
possibly damaging |
Het |
Zfhx2 |
T |
C |
14: 55,304,357 (GRCm39) |
H1209R |
possibly damaging |
Het |
Zfp28 |
T |
C |
7: 6,397,998 (GRCm39) |
L811P |
probably damaging |
Het |
Zfp616 |
T |
C |
11: 73,975,321 (GRCm39) |
I530T |
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 |
|
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- ACAGCCGAGAGATGATACTGCGAC -3'
(R):5'- GCTTGGGAGCTACAGTGCTAAAGAG -3'
Sequencing Primer
(F):5'- ATACTGCGACGCTgggc -3'
(R):5'- TGTAAAAGACACACTGATGCCTG -3'
|
Posted On |
2013-05-23 |