Incidental Mutation 'IGL00898:Rgl2'
ID |
29238 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Rgl2
|
Ensembl Gene |
ENSMUSG00000041354 |
Gene Name |
ral guanine nucleotide dissociation stimulator-like 2 |
Synonyms |
Rlf, Rgt2, Rab2l, KE1.5 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.136)
|
Stock # |
IGL00898
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
34148813-34156661 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 34152392 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 363
(I363T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000041082
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025161]
[ENSMUST00000047503]
|
AlphaFold |
Q61193 |
PDB Structure |
STRUCTURE DETERMINATION OF THE RAS-BINDING DOMAIN OF THE RAL-SPECIFIC GUANINE NUCLEOTIDE EXCHANGE FACTOR RLF, NMR, 10 STRUCTURES [SOLUTION NMR]
The conformation of a docking site for SH3 domains is pre-selected in the Guanine Nucleotide Exchange Factor Rlf [X-RAY DIFFRACTION]
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000025161
|
SMART Domains |
Protein: ENSMUSP00000025161 Gene: ENSMUSG00000024308
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
low complexity region
|
48 |
65 |
N/A |
INTRINSIC |
low complexity region
|
127 |
152 |
N/A |
INTRINSIC |
IG
|
168 |
292 |
3.45e0 |
SMART |
IG_like
|
302 |
406 |
4.78e1 |
SMART |
transmembrane domain
|
416 |
438 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000047503
AA Change: I363T
PolyPhen 2
Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000041082 Gene: ENSMUSG00000041354 AA Change: I363T
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
15 |
N/A |
INTRINSIC |
low complexity region
|
31 |
42 |
N/A |
INTRINSIC |
low complexity region
|
44 |
63 |
N/A |
INTRINSIC |
RasGEFN
|
87 |
212 |
9.54e-30 |
SMART |
RasGEF
|
239 |
514 |
7.15e-106 |
SMART |
low complexity region
|
578 |
592 |
N/A |
INTRINSIC |
low complexity region
|
602 |
619 |
N/A |
INTRINSIC |
low complexity region
|
633 |
648 |
N/A |
INTRINSIC |
RA
|
649 |
736 |
2.05e-19 |
SMART |
low complexity region
|
737 |
762 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000172468
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173153
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173258
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173266
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000173284
|
SMART Domains |
Protein: ENSMUSP00000134312 Gene: ENSMUSG00000041354
Domain | Start | End | E-Value | Type |
Blast:RasGEF
|
2 |
67 |
1e-35 |
BLAST |
PDB:4JGW|B
|
2 |
67 |
1e-35 |
PDB |
SCOP:d1bkds_
|
2 |
94 |
3e-16 |
SMART |
low complexity region
|
131 |
145 |
N/A |
INTRINSIC |
low complexity region
|
155 |
172 |
N/A |
INTRINSIC |
low complexity region
|
186 |
201 |
N/A |
INTRINSIC |
RA
|
202 |
289 |
2.05e-19 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173502
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173718
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174676
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173379
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174442
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174410
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb1a |
G |
A |
5: 8,783,690 (GRCm39) |
G956S |
probably damaging |
Het |
Alpk2 |
G |
T |
18: 65,483,644 (GRCm39) |
D121E |
probably benign |
Het |
Apc |
A |
G |
18: 34,450,147 (GRCm39) |
T2314A |
probably damaging |
Het |
Arhgef11 |
T |
C |
3: 87,636,810 (GRCm39) |
L990P |
probably damaging |
Het |
Ccar1 |
T |
A |
10: 62,589,013 (GRCm39) |
K823N |
unknown |
Het |
Celsr2 |
C |
T |
3: 108,321,195 (GRCm39) |
R539H |
possibly damaging |
Het |
Clca3b |
A |
G |
3: 144,550,389 (GRCm39) |
|
probably benign |
Het |
Cpxcr1 |
T |
C |
X: 115,387,407 (GRCm39) |
L106S |
possibly damaging |
Het |
Edc4 |
T |
A |
8: 106,607,755 (GRCm39) |
L16Q |
probably damaging |
Het |
Emc1 |
A |
G |
4: 139,098,941 (GRCm39) |
E808G |
probably damaging |
Het |
Epha6 |
A |
T |
16: 59,595,904 (GRCm39) |
|
probably null |
Het |
Epha7 |
G |
A |
4: 28,938,693 (GRCm39) |
R516Q |
probably damaging |
Het |
Fancm |
T |
C |
12: 65,152,774 (GRCm39) |
S1077P |
probably benign |
Het |
Gm4952 |
C |
T |
19: 12,595,772 (GRCm39) |
T54I |
probably damaging |
Het |
Hnrnpm |
C |
A |
17: 33,868,876 (GRCm39) |
R517L |
probably damaging |
Het |
Il1b |
T |
C |
2: 129,209,253 (GRCm39) |
R126G |
possibly damaging |
Het |
Kin |
G |
A |
2: 10,085,515 (GRCm39) |
R25H |
probably damaging |
Het |
Kin |
T |
C |
2: 10,085,517 (GRCm39) |
W26R |
probably damaging |
Het |
Lamb3 |
A |
T |
1: 193,021,191 (GRCm39) |
T923S |
possibly damaging |
Het |
Lrp6 |
C |
T |
6: 134,456,702 (GRCm39) |
S854N |
probably damaging |
Het |
Ltv1 |
A |
G |
10: 13,058,031 (GRCm39) |
F258L |
probably damaging |
Het |
Mcm3ap |
T |
C |
10: 76,306,159 (GRCm39) |
S91P |
probably benign |
Het |
Msra |
A |
G |
14: 64,360,774 (GRCm39) |
I125T |
probably damaging |
Het |
Nr0b1 |
A |
T |
X: 85,236,077 (GRCm39) |
Q224L |
probably benign |
Het |
Nr2e1 |
T |
A |
10: 42,444,449 (GRCm39) |
D220V |
probably damaging |
Het |
Nup160 |
C |
A |
2: 90,523,450 (GRCm39) |
H351Q |
probably damaging |
Het |
Or5b96 |
T |
A |
19: 12,867,282 (GRCm39) |
M220L |
probably benign |
Het |
Pcdh12 |
C |
A |
18: 38,414,510 (GRCm39) |
V872L |
probably benign |
Het |
Pcnx2 |
T |
A |
8: 126,614,324 (GRCm39) |
S376C |
probably damaging |
Het |
Pkd2 |
A |
G |
5: 104,631,001 (GRCm39) |
E475G |
probably damaging |
Het |
Psg22 |
A |
G |
7: 18,458,392 (GRCm39) |
Y322C |
probably damaging |
Het |
Rimklb |
G |
T |
6: 122,433,590 (GRCm39) |
Q187K |
possibly damaging |
Het |
Sectm1b |
A |
T |
11: 120,947,075 (GRCm39) |
W17R |
probably damaging |
Het |
Snu13 |
C |
A |
15: 81,926,516 (GRCm39) |
A60S |
probably benign |
Het |
Sox30 |
T |
A |
11: 45,882,727 (GRCm39) |
F586I |
possibly damaging |
Het |
Tnfsfm13 |
C |
A |
11: 69,575,127 (GRCm39) |
V220L |
probably benign |
Het |
Ttn |
A |
T |
2: 76,593,117 (GRCm39) |
V20711E |
probably damaging |
Het |
Vmn2r116 |
A |
G |
17: 23,604,969 (GRCm39) |
N94S |
possibly damaging |
Het |
Yipf2 |
T |
C |
9: 21,503,820 (GRCm39) |
|
probably null |
Het |
Zzef1 |
T |
C |
11: 72,765,999 (GRCm39) |
S1509P |
probably benign |
Het |
|
Other mutations in Rgl2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00514:Rgl2
|
APN |
17 |
34,152,110 (GRCm39) |
missense |
probably benign |
0.31 |
IGL00965:Rgl2
|
APN |
17 |
34,154,910 (GRCm39) |
missense |
probably benign |
0.00 |
IGL00985:Rgl2
|
APN |
17 |
34,151,075 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02140:Rgl2
|
APN |
17 |
34,152,098 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02214:Rgl2
|
APN |
17 |
34,154,163 (GRCm39) |
missense |
probably benign |
0.06 |
IGL02486:Rgl2
|
APN |
17 |
34,154,954 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL02579:Rgl2
|
APN |
17 |
34,156,134 (GRCm39) |
missense |
probably benign |
0.08 |
IGL02976:Rgl2
|
APN |
17 |
34,152,936 (GRCm39) |
missense |
possibly damaging |
0.95 |
Hypotenuse
|
UTSW |
17 |
34,150,713 (GRCm39) |
missense |
probably benign |
0.00 |
Pedernales
|
UTSW |
17 |
34,151,012 (GRCm39) |
critical splice acceptor site |
probably null |
|
PIT4354001:Rgl2
|
UTSW |
17 |
34,152,914 (GRCm39) |
missense |
possibly damaging |
0.80 |
R0347:Rgl2
|
UTSW |
17 |
34,151,712 (GRCm39) |
missense |
probably damaging |
1.00 |
R0456:Rgl2
|
UTSW |
17 |
34,155,823 (GRCm39) |
splice site |
probably null |
|
R0825:Rgl2
|
UTSW |
17 |
34,154,133 (GRCm39) |
splice site |
probably null |
|
R1742:Rgl2
|
UTSW |
17 |
34,156,197 (GRCm39) |
splice site |
probably null |
|
R1777:Rgl2
|
UTSW |
17 |
34,150,718 (GRCm39) |
missense |
probably benign |
0.00 |
R1829:Rgl2
|
UTSW |
17 |
34,152,595 (GRCm39) |
missense |
probably benign |
0.00 |
R1908:Rgl2
|
UTSW |
17 |
34,151,122 (GRCm39) |
missense |
probably benign |
0.00 |
R1961:Rgl2
|
UTSW |
17 |
34,152,589 (GRCm39) |
missense |
probably damaging |
1.00 |
R2102:Rgl2
|
UTSW |
17 |
34,152,314 (GRCm39) |
splice site |
probably null |
|
R3001:Rgl2
|
UTSW |
17 |
34,151,579 (GRCm39) |
missense |
probably benign |
0.00 |
R3002:Rgl2
|
UTSW |
17 |
34,151,579 (GRCm39) |
missense |
probably benign |
0.00 |
R3755:Rgl2
|
UTSW |
17 |
34,151,571 (GRCm39) |
missense |
probably benign |
0.01 |
R3756:Rgl2
|
UTSW |
17 |
34,151,571 (GRCm39) |
missense |
probably benign |
0.01 |
R3978:Rgl2
|
UTSW |
17 |
34,154,136 (GRCm39) |
missense |
probably benign |
0.02 |
R4042:Rgl2
|
UTSW |
17 |
34,156,236 (GRCm39) |
missense |
probably damaging |
1.00 |
R4064:Rgl2
|
UTSW |
17 |
34,156,082 (GRCm39) |
missense |
possibly damaging |
0.77 |
R4204:Rgl2
|
UTSW |
17 |
34,155,906 (GRCm39) |
missense |
probably benign |
0.04 |
R4661:Rgl2
|
UTSW |
17 |
34,152,200 (GRCm39) |
missense |
possibly damaging |
0.77 |
R4852:Rgl2
|
UTSW |
17 |
34,156,147 (GRCm39) |
missense |
probably benign |
0.00 |
R4922:Rgl2
|
UTSW |
17 |
34,151,749 (GRCm39) |
unclassified |
probably benign |
|
R5119:Rgl2
|
UTSW |
17 |
34,156,094 (GRCm39) |
missense |
probably benign |
0.00 |
R5167:Rgl2
|
UTSW |
17 |
34,154,948 (GRCm39) |
nonsense |
probably null |
|
R5279:Rgl2
|
UTSW |
17 |
34,154,922 (GRCm39) |
missense |
probably benign |
|
R5319:Rgl2
|
UTSW |
17 |
34,152,529 (GRCm39) |
missense |
probably benign |
0.02 |
R5337:Rgl2
|
UTSW |
17 |
34,153,958 (GRCm39) |
missense |
probably damaging |
0.99 |
R5881:Rgl2
|
UTSW |
17 |
34,151,691 (GRCm39) |
missense |
probably benign |
0.01 |
R5945:Rgl2
|
UTSW |
17 |
34,151,012 (GRCm39) |
critical splice acceptor site |
probably null |
|
R6165:Rgl2
|
UTSW |
17 |
34,150,739 (GRCm39) |
missense |
probably benign |
0.01 |
R6358:Rgl2
|
UTSW |
17 |
34,156,105 (GRCm39) |
splice site |
probably null |
|
R6867:Rgl2
|
UTSW |
17 |
34,151,661 (GRCm39) |
missense |
probably benign |
0.09 |
R7174:Rgl2
|
UTSW |
17 |
34,153,964 (GRCm39) |
missense |
possibly damaging |
0.93 |
R7182:Rgl2
|
UTSW |
17 |
34,153,964 (GRCm39) |
missense |
possibly damaging |
0.93 |
R7183:Rgl2
|
UTSW |
17 |
34,153,964 (GRCm39) |
missense |
possibly damaging |
0.93 |
R7184:Rgl2
|
UTSW |
17 |
34,153,964 (GRCm39) |
missense |
possibly damaging |
0.93 |
R7196:Rgl2
|
UTSW |
17 |
34,152,403 (GRCm39) |
missense |
probably damaging |
1.00 |
R7203:Rgl2
|
UTSW |
17 |
34,152,403 (GRCm39) |
missense |
probably damaging |
1.00 |
R7250:Rgl2
|
UTSW |
17 |
34,152,403 (GRCm39) |
missense |
probably damaging |
1.00 |
R7253:Rgl2
|
UTSW |
17 |
34,153,964 (GRCm39) |
missense |
possibly damaging |
0.93 |
R7254:Rgl2
|
UTSW |
17 |
34,153,964 (GRCm39) |
missense |
possibly damaging |
0.93 |
R7255:Rgl2
|
UTSW |
17 |
34,153,964 (GRCm39) |
missense |
possibly damaging |
0.93 |
R7256:Rgl2
|
UTSW |
17 |
34,153,964 (GRCm39) |
missense |
possibly damaging |
0.93 |
R7282:Rgl2
|
UTSW |
17 |
34,152,403 (GRCm39) |
missense |
probably damaging |
1.00 |
R7455:Rgl2
|
UTSW |
17 |
34,151,657 (GRCm39) |
missense |
probably benign |
0.32 |
R7513:Rgl2
|
UTSW |
17 |
34,151,529 (GRCm39) |
missense |
probably benign |
|
R7752:Rgl2
|
UTSW |
17 |
34,154,799 (GRCm39) |
missense |
possibly damaging |
0.82 |
R7901:Rgl2
|
UTSW |
17 |
34,154,799 (GRCm39) |
missense |
possibly damaging |
0.82 |
R7941:Rgl2
|
UTSW |
17 |
34,150,713 (GRCm39) |
missense |
probably benign |
0.00 |
R8158:Rgl2
|
UTSW |
17 |
34,155,918 (GRCm39) |
missense |
probably benign |
0.27 |
R8209:Rgl2
|
UTSW |
17 |
34,151,501 (GRCm39) |
missense |
possibly damaging |
0.91 |
R8226:Rgl2
|
UTSW |
17 |
34,151,501 (GRCm39) |
missense |
possibly damaging |
0.91 |
R8405:Rgl2
|
UTSW |
17 |
34,152,698 (GRCm39) |
nonsense |
probably null |
|
R8871:Rgl2
|
UTSW |
17 |
34,153,974 (GRCm39) |
missense |
probably damaging |
1.00 |
R9205:Rgl2
|
UTSW |
17 |
34,155,002 (GRCm39) |
missense |
probably damaging |
1.00 |
R9591:Rgl2
|
UTSW |
17 |
34,151,451 (GRCm39) |
missense |
possibly damaging |
0.50 |
X0028:Rgl2
|
UTSW |
17 |
34,151,432 (GRCm39) |
splice site |
probably null |
|
|
Posted On |
2013-04-17 |