Incidental Mutation 'R7253:Rgl2'
ID |
564107 |
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 |
045314-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.101)
|
Stock # |
R7253 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
34148813-34156661 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 34153964 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 457
(F457L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000041082
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025163]
[ENSMUST00000047503]
[ENSMUST00000173363]
[ENSMUST00000174048]
[ENSMUST00000174426]
[ENSMUST00000179418]
|
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: ENSMUST00000025163
|
SMART Domains |
Protein: ENSMUSP00000025163 Gene: ENSMUSG00000024309
Domain | Start | End | E-Value | Type |
Pfam:Prefoldin_2
|
10 |
115 |
9.6e-29 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000047503
AA Change: F457L
PolyPhen 2
Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000041082 Gene: ENSMUSG00000041354 AA Change: F457L
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 |
|
SMART Domains |
Protein: ENSMUSP00000134312 Gene: ENSMUSG00000041354 AA Change: F21L
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 |
probably benign
Transcript: ENSMUST00000173363
|
SMART Domains |
Protein: ENSMUSP00000138662 Gene: ENSMUSG00000024309
Domain | Start | End | E-Value | Type |
Pfam:Prefoldin_2
|
1 |
89 |
1.1e-24 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000174048
|
SMART Domains |
Protein: ENSMUSP00000133656 Gene: ENSMUSG00000024309
Domain | Start | End | E-Value | Type |
Pfam:Prefoldin_2
|
10 |
115 |
2e-28 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000174426
|
SMART Domains |
Protein: ENSMUSP00000134069 Gene: ENSMUSG00000024309
Domain | Start | End | E-Value | Type |
Pfam:Prefoldin_2
|
1 |
89 |
1.1e-24 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000179418
|
SMART Domains |
Protein: ENSMUSP00000137072 Gene: ENSMUSG00000024309
Domain | Start | End | E-Value | Type |
Pfam:Prefoldin_2
|
10 |
115 |
2e-28 |
PFAM |
|
Meta Mutation Damage Score |
0.8096 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
Validation Efficiency |
99% (74/75) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 76 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700009N14Rik |
A |
G |
4: 39,451,391 (GRCm39) |
H199R |
not run |
Het |
Ak9 |
A |
G |
10: 41,308,480 (GRCm39) |
N1804S |
unknown |
Het |
Akr1c21 |
C |
A |
13: 4,627,139 (GRCm39) |
T147N |
probably damaging |
Het |
Aldh1a2 |
A |
G |
9: 71,123,216 (GRCm39) |
T30A |
probably benign |
Het |
Alox15 |
T |
C |
11: 70,236,724 (GRCm39) |
D447G |
probably damaging |
Het |
Amigo2 |
T |
C |
15: 97,142,956 (GRCm39) |
I489V |
probably benign |
Het |
Ano9 |
A |
T |
7: 140,687,350 (GRCm39) |
Y322N |
probably damaging |
Het |
Arhgap40 |
G |
T |
2: 158,389,576 (GRCm39) |
W583L |
probably benign |
Het |
Atxn2 |
A |
G |
5: 121,916,084 (GRCm39) |
E430G |
probably damaging |
Het |
Brip1 |
T |
C |
11: 86,034,104 (GRCm39) |
Y539C |
possibly damaging |
Het |
C87436 |
T |
A |
6: 86,442,790 (GRCm39) |
L454Q |
probably damaging |
Het |
Casp4 |
T |
G |
9: 5,324,868 (GRCm39) |
Y227D |
probably benign |
Het |
Ccn6 |
T |
G |
10: 39,031,031 (GRCm39) |
N164T |
probably benign |
Het |
Chd4 |
T |
A |
6: 125,083,555 (GRCm39) |
|
probably null |
Het |
Chrna10 |
A |
G |
7: 101,761,293 (GRCm39) |
C433R |
probably benign |
Het |
Cntln |
A |
T |
4: 85,036,710 (GRCm39) |
N214I |
probably damaging |
Het |
Colec12 |
G |
A |
18: 9,848,922 (GRCm39) |
V367I |
probably damaging |
Het |
Cyp46a1 |
T |
C |
12: 108,318,255 (GRCm39) |
I222T |
probably benign |
Het |
Dagla |
A |
T |
19: 10,239,945 (GRCm39) |
|
probably null |
Het |
Dcaf7 |
C |
A |
11: 105,938,669 (GRCm39) |
|
probably null |
Het |
Dclk2 |
C |
T |
3: 86,700,566 (GRCm39) |
R638H |
probably damaging |
Het |
E2f7 |
A |
G |
10: 110,602,164 (GRCm39) |
|
probably null |
Het |
Fam184a |
G |
T |
10: 53,574,901 (GRCm39) |
T236K |
probably benign |
Het |
Glyctk |
T |
C |
9: 106,032,661 (GRCm39) |
T451A |
probably damaging |
Het |
Hectd4 |
A |
G |
5: 121,452,944 (GRCm39) |
K484E |
possibly damaging |
Het |
Hspbap1 |
G |
T |
16: 35,637,600 (GRCm39) |
C243F |
unknown |
Het |
Hspg2 |
A |
C |
4: 137,247,257 (GRCm39) |
N1160T |
probably benign |
Het |
Ighv5-8 |
C |
T |
12: 113,618,728 (GRCm39) |
L48F |
probably benign |
Het |
Jazf1 |
C |
A |
6: 52,754,637 (GRCm39) |
E146D |
probably benign |
Het |
Katnb1 |
C |
T |
8: 95,822,125 (GRCm39) |
Q284* |
probably null |
Het |
Kctd18 |
G |
T |
1: 58,001,115 (GRCm39) |
Y213* |
probably null |
Het |
Klk1b26 |
T |
C |
7: 43,664,213 (GRCm39) |
S23P |
possibly damaging |
Het |
Krt88 |
T |
C |
15: 101,348,392 (GRCm39) |
L26P |
probably damaging |
Het |
Lrrc8b |
G |
A |
5: 105,629,522 (GRCm39) |
V623I |
probably benign |
Het |
Map3k4 |
T |
A |
17: 12,490,955 (GRCm39) |
M159L |
probably benign |
Het |
Mast3 |
C |
A |
8: 71,242,326 (GRCm39) |
|
probably null |
Het |
Mier1 |
G |
A |
4: 102,996,544 (GRCm39) |
|
probably null |
Het |
Mrpl46 |
T |
C |
7: 78,431,207 (GRCm39) |
D117G |
probably damaging |
Het |
Ms4a6b |
A |
G |
19: 11,497,760 (GRCm39) |
S20G |
probably benign |
Het |
Mup10 |
A |
T |
4: 60,538,077 (GRCm39) |
M4K |
unknown |
Het |
Nlrp5 |
C |
T |
7: 23,116,816 (GRCm39) |
A180V |
possibly damaging |
Het |
Nlrx1 |
T |
A |
9: 44,176,001 (GRCm39) |
|
probably null |
Het |
Odad3 |
T |
C |
9: 21,913,767 (GRCm39) |
T2A |
probably damaging |
Het |
Or2a52 |
T |
C |
6: 43,144,744 (GRCm39) |
F251L |
probably damaging |
Het |
Or2t45 |
T |
C |
11: 58,669,822 (GRCm39) |
Y290H |
probably damaging |
Het |
Or4c103 |
T |
C |
2: 88,513,969 (GRCm39) |
T36A |
possibly damaging |
Het |
Or51aa2 |
C |
T |
7: 103,187,995 (GRCm39) |
A149T |
probably benign |
Het |
Or5af2 |
T |
A |
11: 58,708,366 (GRCm39) |
C177* |
probably null |
Het |
Or5ak22 |
A |
G |
2: 85,229,983 (GRCm39) |
I298T |
probably benign |
Het |
Otud1 |
C |
A |
2: 19,663,742 (GRCm39) |
D290E |
probably damaging |
Het |
Pank4 |
A |
G |
4: 155,055,377 (GRCm39) |
N249S |
probably benign |
Het |
Pccb |
G |
T |
9: 100,913,966 (GRCm39) |
S84R |
probably benign |
Het |
Pemt |
A |
T |
11: 59,862,081 (GRCm39) |
H194Q |
possibly damaging |
Het |
Phtf2 |
A |
G |
5: 20,970,856 (GRCm39) |
I634T |
possibly damaging |
Het |
Pias2 |
T |
G |
18: 77,207,811 (GRCm39) |
I232R |
probably damaging |
Het |
Plce1 |
A |
G |
19: 38,686,952 (GRCm39) |
E620G |
probably damaging |
Het |
Pramel17 |
A |
T |
4: 101,692,725 (GRCm39) |
V425E |
probably benign |
Het |
Ptpn13 |
G |
A |
5: 103,713,150 (GRCm39) |
E1758K |
possibly damaging |
Het |
Ptprq |
T |
A |
10: 107,444,134 (GRCm39) |
Q1490L |
probably benign |
Het |
Ptx3 |
G |
T |
3: 66,132,368 (GRCm39) |
M296I |
probably benign |
Het |
R3hdm2 |
C |
T |
10: 127,317,644 (GRCm39) |
P464L |
probably damaging |
Het |
Rapgef1 |
A |
G |
2: 29,589,733 (GRCm39) |
E258G |
possibly damaging |
Het |
Rsf1 |
GGCGGCGGC |
GGCGGCGGCCGCGGCGGC |
7: 97,229,122 (GRCm39) |
|
probably benign |
Het |
Senp8 |
T |
C |
9: 59,644,478 (GRCm39) |
N226S |
probably benign |
Het |
Six5 |
C |
T |
7: 18,828,901 (GRCm39) |
R114C |
probably damaging |
Het |
Slc10a1 |
T |
C |
12: 81,004,958 (GRCm39) |
T195A |
probably benign |
Het |
Slpi |
G |
T |
2: 164,197,467 (GRCm39) |
Q51K |
probably benign |
Het |
Smarca4 |
T |
C |
9: 21,570,256 (GRCm39) |
V753A |
probably benign |
Het |
Tbc1d32 |
C |
A |
10: 56,074,537 (GRCm39) |
M225I |
probably benign |
Het |
Tent5a |
C |
A |
9: 85,208,770 (GRCm39) |
G18C |
probably benign |
Het |
Tnfrsf21 |
G |
A |
17: 43,348,558 (GRCm39) |
V57I |
probably benign |
Het |
Trim44 |
G |
T |
2: 102,177,313 (GRCm39) |
P336T |
possibly damaging |
Het |
Txlnb |
A |
G |
10: 17,703,633 (GRCm39) |
I264V |
probably damaging |
Het |
Xirp2 |
A |
C |
2: 67,343,826 (GRCm39) |
E2022D |
probably benign |
Het |
Zfp975 |
A |
G |
7: 42,311,036 (GRCm39) |
*526R |
probably null |
Het |
Zp1 |
A |
G |
19: 10,893,933 (GRCm39) |
L424P |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- CTGAGTGTCAAGTGGAGCTG -3'
(R):5'- ATTCTTTCTGGAGGCGCAAC -3'
Sequencing Primer
(F):5'- GCTACACAGTGAGTCCCAGTCTC -3'
(R):5'- GGCGCAACAGCTCCGAAAG -3'
|
Posted On |
2019-06-26 |