Incidental Mutation 'R8405:Rgl2'
| ID |
652381 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rgl2
|
| Ensembl Gene |
ENSMUSG00000041354 |
| Gene Name |
ral guanine nucleotide dissociation stimulator-like 2 |
| Synonyms |
Rlf, Rgt2, Rab2l, KE1.5 |
| MMRRC Submission |
067879-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.136)
|
| Stock # |
R8405 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
34148813-34156661 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 34152698 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 408
(Q408*)
|
| 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 null
Transcript: ENSMUST00000047503
AA Change: Q408*
|
| SMART Domains |
Protein: ENSMUSP00000041082
Gene: ENSMUSG00000041354
AA Change: Q408*
| 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 |
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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
98% (49/50) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acadm |
T |
C |
3: 153,635,165 (GRCm39) |
|
probably benign |
Het |
| Anxa3 |
C |
A |
5: 96,978,295 (GRCm39) |
D226E |
probably benign |
Het |
| Anxa8 |
T |
C |
14: 33,819,881 (GRCm39) |
L290P |
probably damaging |
Het |
| Brd4 |
C |
A |
17: 32,448,505 (GRCm39) |
K57N |
unknown |
Het |
| Cpne8 |
T |
A |
15: 90,456,235 (GRCm39) |
Q176L |
possibly damaging |
Het |
| Csf2rb2 |
T |
C |
15: 78,172,093 (GRCm39) |
D439G |
possibly damaging |
Het |
| Csmd3 |
A |
G |
15: 47,619,379 (GRCm39) |
S1832P |
probably damaging |
Het |
| Cux1 |
A |
G |
5: 136,304,241 (GRCm39) |
S1320P |
possibly damaging |
Het |
| Cyp2t4 |
A |
T |
7: 26,856,894 (GRCm39) |
|
probably null |
Het |
| Dnah2 |
A |
T |
11: 69,349,289 (GRCm39) |
L2449Q |
probably damaging |
Het |
| Dock1 |
A |
G |
7: 134,379,192 (GRCm39) |
M640V |
probably benign |
Het |
| Efcab3 |
G |
A |
11: 104,612,024 (GRCm39) |
S622N |
probably benign |
Het |
| Ergic1 |
T |
A |
17: 26,874,096 (GRCm39) |
I274N |
probably damaging |
Het |
| Fat3 |
T |
C |
9: 15,907,167 (GRCm39) |
D2945G |
probably damaging |
Het |
| Fscb |
T |
C |
12: 64,520,278 (GRCm39) |
E396G |
possibly damaging |
Het |
| Gab1 |
T |
A |
8: 81,501,594 (GRCm39) |
R581* |
probably null |
Het |
| Gabarapl1 |
A |
G |
6: 129,514,497 (GRCm39) |
D45G |
probably null |
Het |
| Gfap |
C |
A |
11: 102,782,255 (GRCm39) |
Q418H |
probably benign |
Het |
| Gfap |
T |
A |
11: 102,782,256 (GRCm39) |
Q418L |
probably benign |
Het |
| Hectd1 |
T |
A |
12: 51,874,178 (GRCm39) |
M33L |
probably benign |
Het |
| Kcnh7 |
T |
A |
2: 62,533,446 (GRCm39) |
K1144N |
probably benign |
Het |
| Lrit3 |
C |
T |
3: 129,582,301 (GRCm39) |
G562D |
probably benign |
Het |
| Mab21l1 |
A |
T |
3: 55,690,659 (GRCm39) |
Q82L |
probably damaging |
Het |
| Naip6 |
C |
T |
13: 100,436,784 (GRCm39) |
A580T |
possibly damaging |
Het |
| Nav1 |
T |
C |
1: 135,382,508 (GRCm39) |
K1258R |
unknown |
Het |
| Nbas |
C |
A |
12: 13,329,394 (GRCm39) |
A113E |
probably damaging |
Het |
| Nlrp1b |
A |
T |
11: 71,073,356 (GRCm39) |
D162E |
possibly damaging |
Het |
| Nr2c1 |
A |
T |
10: 94,031,155 (GRCm39) |
H572L |
probably benign |
Het |
| Or52s1 |
A |
T |
7: 102,861,408 (GRCm39) |
I114F |
probably benign |
Het |
| Or56b2j |
T |
A |
7: 104,353,208 (GRCm39) |
S145T |
probably benign |
Het |
| Pcdha12 |
T |
A |
18: 37,154,250 (GRCm39) |
V323E |
possibly damaging |
Het |
| Pgm5 |
T |
A |
19: 24,705,106 (GRCm39) |
H469L |
probably benign |
Het |
| Phf8-ps |
C |
A |
17: 33,286,038 (GRCm39) |
A255S |
probably benign |
Het |
| Pja2 |
T |
C |
17: 64,616,505 (GRCm39) |
E130G |
possibly damaging |
Het |
| Ppp2r2b |
G |
C |
18: 42,778,805 (GRCm39) |
D443E |
probably benign |
Het |
| Prdm9 |
T |
A |
17: 15,764,456 (GRCm39) |
T775S |
probably benign |
Het |
| Rbm6 |
A |
G |
9: 107,730,016 (GRCm39) |
S211P |
probably benign |
Het |
| Rgs14 |
C |
T |
13: 55,530,962 (GRCm39) |
R389W |
probably damaging |
Het |
| Rtcb |
T |
C |
10: 85,793,534 (GRCm39) |
D13G |
probably benign |
Het |
| Slc23a4 |
C |
T |
6: 34,923,145 (GRCm39) |
C280Y |
probably benign |
Het |
| Slc7a5 |
G |
T |
8: 122,613,661 (GRCm39) |
T297K |
possibly damaging |
Het |
| Spef2 |
A |
G |
15: 9,612,643 (GRCm39) |
V1229A |
probably benign |
Het |
| Stag3 |
A |
C |
5: 138,302,914 (GRCm39) |
T1064P |
probably damaging |
Het |
| Tnnt1 |
A |
G |
7: 4,510,592 (GRCm39) |
S211P |
probably damaging |
Het |
| Trim26 |
A |
G |
17: 37,167,095 (GRCm39) |
D262G |
possibly damaging |
Het |
| Trim30a |
A |
T |
7: 104,060,749 (GRCm39) |
Y342* |
probably null |
Het |
| Trpm7 |
T |
C |
2: 126,658,755 (GRCm39) |
I1134V |
probably benign |
Het |
| Tsc22d1 |
G |
A |
14: 76,655,734 (GRCm39) |
G738S |
probably damaging |
Het |
| Usp39 |
A |
G |
6: 72,305,521 (GRCm39) |
F421L |
probably damaging |
Het |
| Vmn2r97 |
G |
A |
17: 19,134,802 (GRCm39) |
|
probably null |
Het |
| Zfat |
T |
C |
15: 68,018,410 (GRCm39) |
Y968C |
probably 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 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GTTCTTCCTCTCTAGGGACAGC -3'
(R):5'- AGCATCACGAGGTCCTTCAG -3'
Sequencing Primer
(F):5'- GGGACAGCCTCCGAGTCTTTTC -3'
(R):5'- GGAACCACACCCTGCAGG -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation