Incidental Mutation 'IGL00985:Rgl2'
| ID |
29375 |
| 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: 0.101)
|
| Stock # |
IGL00985
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
34148813-34156661 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 34151075 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 101
(V101A)
|
| 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 |
probably damaging
Transcript: ENSMUST00000047503
AA Change: V101A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000041082
Gene: ENSMUSG00000041354
AA Change: V101A
| 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: ENSMUST00000172653
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173153
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173258
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173266
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173718
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173379
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173502
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174410
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174676
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174442
|
| 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 |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A630091E08Rik |
G |
T |
7: 98,193,125 (GRCm39) |
|
noncoding transcript |
Het |
| Abca15 |
G |
A |
7: 119,996,241 (GRCm39) |
G1389E |
probably damaging |
Het |
| Adcy3 |
T |
C |
12: 4,184,600 (GRCm39) |
V92A |
probably damaging |
Het |
| Aoc1l1 |
A |
G |
6: 48,954,481 (GRCm39) |
S540G |
probably benign |
Het |
| Aplnr |
A |
T |
2: 84,968,007 (GRCm39) |
Y344F |
probably benign |
Het |
| Atm |
A |
T |
9: 53,371,116 (GRCm39) |
V2241E |
probably damaging |
Het |
| Cep290 |
T |
C |
10: 100,403,023 (GRCm39) |
|
probably benign |
Het |
| Cnpy1 |
A |
T |
5: 28,414,152 (GRCm39) |
Y91* |
probably null |
Het |
| Cobl |
C |
A |
11: 12,204,843 (GRCm39) |
G613W |
probably damaging |
Het |
| Csn1s2a |
T |
C |
5: 87,932,439 (GRCm39) |
S121P |
possibly damaging |
Het |
| Flg2 |
A |
T |
3: 93,110,585 (GRCm39) |
Y871F |
unknown |
Het |
| Gapvd1 |
T |
A |
2: 34,585,575 (GRCm39) |
D1008V |
probably damaging |
Het |
| Gask1a |
T |
C |
9: 121,807,401 (GRCm39) |
L515P |
probably damaging |
Het |
| Igfl3 |
T |
C |
7: 17,914,000 (GRCm39) |
|
probably null |
Het |
| Kmt2b |
A |
T |
7: 30,279,352 (GRCm39) |
V1470E |
probably damaging |
Het |
| Mcc |
A |
T |
18: 44,624,306 (GRCm39) |
L413Q |
probably damaging |
Het |
| Mia2 |
G |
A |
12: 59,235,146 (GRCm39) |
G610D |
probably damaging |
Het |
| Mlst8 |
A |
T |
17: 24,696,287 (GRCm39) |
D147E |
probably damaging |
Het |
| Muc19 |
G |
T |
15: 91,770,943 (GRCm39) |
|
noncoding transcript |
Het |
| Mybpc3 |
A |
G |
2: 90,965,704 (GRCm39) |
E1172G |
probably benign |
Het |
| Niban3 |
T |
C |
8: 72,057,507 (GRCm39) |
|
probably benign |
Het |
| Nop14 |
A |
T |
5: 34,802,133 (GRCm39) |
L557Q |
probably damaging |
Het |
| P3h3 |
T |
C |
6: 124,822,552 (GRCm39) |
T540A |
probably benign |
Het |
| Phc3 |
T |
A |
3: 30,968,346 (GRCm39) |
I897F |
probably benign |
Het |
| Plekhh2 |
G |
A |
17: 84,871,356 (GRCm39) |
V205I |
probably benign |
Het |
| Poc5 |
A |
G |
13: 96,547,254 (GRCm39) |
K506E |
probably damaging |
Het |
| Pum1 |
C |
A |
4: 130,471,100 (GRCm39) |
T450K |
probably damaging |
Het |
| Retnlg |
G |
A |
16: 48,694,688 (GRCm39) |
R112H |
possibly damaging |
Het |
| Serinc5 |
A |
G |
13: 92,842,779 (GRCm39) |
T410A |
probably damaging |
Het |
| Shroom1 |
T |
C |
11: 53,356,796 (GRCm39) |
V553A |
probably benign |
Het |
| Slco4c1 |
A |
T |
1: 96,768,912 (GRCm39) |
W317R |
probably damaging |
Het |
| Snap91 |
T |
C |
9: 86,703,790 (GRCm39) |
T268A |
probably benign |
Het |
| Supt16 |
T |
C |
14: 52,399,148 (GRCm39) |
K1044E |
possibly damaging |
Het |
| Tarbp1 |
A |
T |
8: 127,185,900 (GRCm39) |
L431I |
probably damaging |
Het |
| Tas2r124 |
C |
T |
6: 132,732,492 (GRCm39) |
T267I |
probably benign |
Het |
| Tm7sf3 |
C |
T |
6: 146,507,692 (GRCm39) |
V457I |
possibly damaging |
Het |
| Tmem132c |
A |
T |
5: 127,581,930 (GRCm39) |
S382C |
probably damaging |
Het |
| Tmprss7 |
C |
A |
16: 45,482,685 (GRCm39) |
C582F |
probably damaging |
Het |
| Tsc2 |
T |
C |
17: 24,816,105 (GRCm39) |
E1694G |
probably damaging |
Het |
| Txndc2 |
G |
T |
17: 65,945,544 (GRCm39) |
S211Y |
possibly damaging |
Het |
| Ubr3 |
A |
C |
2: 69,833,775 (GRCm39) |
T205P |
probably damaging |
Het |
| Vmn2r116 |
G |
A |
17: 23,620,489 (GRCm39) |
G741D |
probably damaging |
Het |
| Vps8 |
G |
A |
16: 21,296,334 (GRCm39) |
|
probably benign |
Het |
| Wdr19 |
G |
A |
5: 65,409,642 (GRCm39) |
D1127N |
probably benign |
Het |
| Zim1 |
T |
A |
7: 6,685,759 (GRCm39) |
Y83F |
possibly damaging |
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 |
|
IGL00898:Rgl2
|
APN |
17 |
34,152,392 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL00965:Rgl2
|
APN |
17 |
34,154,910 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
Incidental Mutation