Incidental Mutation 'R6082:Rabl6'
ID |
482224 |
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 |
044241-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6082 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
25473029-25498493 bp(-) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
C to T
at 25473837 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000140109
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058137]
[ENSMUST00000114217]
[ENSMUST00000187017]
[ENSMUST00000191602]
[ENSMUST00000188161]
|
AlphaFold |
Q5U3K5 |
Predicted Effect |
unknown
Transcript: ENSMUST00000058137
AA Change: R715H
|
SMART Domains |
Protein: ENSMUSP00000058746 Gene: ENSMUSG00000015087 AA Change: R715H
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: ENSMUST00000150206
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146012
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143855
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181730
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000187017
|
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 |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.4%
|
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: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A830018L16Rik |
T |
C |
1: 11,868,752 (GRCm39) |
I344T |
probably benign |
Het |
Adamts19 |
G |
A |
18: 59,101,846 (GRCm39) |
A639T |
probably benign |
Het |
Adamts9 |
T |
C |
6: 92,866,930 (GRCm39) |
D122G |
probably damaging |
Het |
Bin2 |
A |
G |
15: 100,543,029 (GRCm39) |
S358P |
possibly damaging |
Het |
Bora |
A |
T |
14: 99,299,730 (GRCm39) |
Q234L |
possibly damaging |
Het |
Btaf1 |
C |
T |
19: 36,960,942 (GRCm39) |
R772C |
probably damaging |
Het |
Cenpf |
T |
C |
1: 189,390,301 (GRCm39) |
E1177G |
probably benign |
Het |
Clec4b2 |
A |
T |
6: 123,181,100 (GRCm39) |
|
probably null |
Het |
Dedd2 |
G |
A |
7: 24,910,715 (GRCm39) |
P154S |
probably benign |
Het |
Dennd5b |
A |
G |
6: 148,970,193 (GRCm39) |
S87P |
probably damaging |
Het |
Dhx8 |
C |
T |
11: 101,655,139 (GRCm39) |
R1050W |
probably damaging |
Het |
Eif3a |
T |
C |
19: 60,760,568 (GRCm39) |
K682R |
possibly damaging |
Het |
Eif4e2 |
G |
T |
1: 87,153,956 (GRCm39) |
|
probably null |
Het |
Ephb1 |
T |
C |
9: 101,848,303 (GRCm39) |
D665G |
probably damaging |
Het |
Gbp7 |
G |
A |
3: 142,251,697 (GRCm39) |
V515M |
probably benign |
Het |
Hnrnpdl |
C |
T |
5: 100,184,340 (GRCm39) |
G398S |
probably null |
Het |
Hook3 |
C |
A |
8: 26,600,813 (GRCm39) |
A32S |
probably benign |
Het |
Hoxb4 |
T |
C |
11: 96,209,359 (GRCm39) |
|
probably benign |
Het |
Idi1 |
T |
A |
13: 8,940,506 (GRCm39) |
Y229* |
probably null |
Het |
Lpl |
A |
T |
8: 69,349,301 (GRCm39) |
I276F |
probably damaging |
Het |
Ltbp4 |
T |
C |
7: 27,035,105 (GRCm39) |
|
probably benign |
Het |
Mphosph8 |
A |
G |
14: 56,905,998 (GRCm39) |
I64V |
probably damaging |
Het |
Mroh1 |
A |
G |
15: 76,314,423 (GRCm39) |
D700G |
probably benign |
Het |
Myt1l |
G |
A |
12: 29,882,331 (GRCm39) |
G509R |
unknown |
Het |
Myt1l |
T |
C |
12: 29,892,518 (GRCm39) |
Y52H |
probably damaging |
Het |
Nlrp9a |
T |
A |
7: 26,267,402 (GRCm39) |
D777E |
probably benign |
Het |
Nudt4 |
A |
G |
10: 95,387,318 (GRCm39) |
I82T |
probably benign |
Het |
Nwd2 |
T |
C |
5: 63,962,374 (GRCm39) |
C653R |
possibly damaging |
Het |
Obscn |
A |
G |
11: 58,890,393 (GRCm39) |
Y7380H |
unknown |
Het |
Or13a18 |
A |
G |
7: 140,190,594 (GRCm39) |
T172A |
probably benign |
Het |
Or8b3b |
C |
A |
9: 38,583,866 (GRCm39) |
R291S |
probably damaging |
Het |
Or8j3 |
A |
C |
2: 86,028,661 (GRCm39) |
V145G |
probably damaging |
Het |
Or8s8 |
C |
T |
15: 98,354,647 (GRCm39) |
A152V |
probably damaging |
Het |
Ptk2 |
A |
T |
15: 73,148,714 (GRCm39) |
M409K |
probably damaging |
Het |
Ptpn11 |
T |
C |
5: 121,292,589 (GRCm39) |
T253A |
probably benign |
Het |
Rnf14 |
T |
C |
18: 38,434,723 (GRCm39) |
S57P |
possibly damaging |
Het |
Scnm1 |
T |
C |
3: 95,037,596 (GRCm39) |
I157V |
probably benign |
Het |
Slco1b2 |
A |
C |
6: 141,609,396 (GRCm39) |
I269L |
probably benign |
Het |
Smchd1 |
A |
G |
17: 71,656,714 (GRCm39) |
Y1918H |
probably benign |
Het |
Spag17 |
A |
T |
3: 100,031,501 (GRCm39) |
I2255F |
possibly damaging |
Het |
Spata31g1 |
A |
G |
4: 42,972,511 (GRCm39) |
M615V |
probably benign |
Het |
Tnnt2 |
A |
G |
1: 135,777,172 (GRCm39) |
M199V |
probably benign |
Het |
Tymp |
GC |
GCC |
15: 89,258,567 (GRCm39) |
|
probably null |
Het |
Vmn2r73 |
T |
A |
7: 85,507,429 (GRCm39) |
I628L |
probably benign |
Het |
Zc2hc1b |
C |
A |
10: 13,047,055 (GRCm39) |
E19* |
probably null |
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 |
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 |
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'- AATGTAGAGTGGGCCAGACC -3'
(R):5'- CTCCTAGAATGTGGGATTTAGCC -3'
Sequencing Primer
(F):5'- CCACATGGGGGCAGACATAATG -3'
(R):5'- GCTCTTCATGACCTTCAGGAG -3'
|
Posted On |
2017-07-14 |