Incidental Mutation 'R7182:Rgl2'
| ID |
559081 |
| 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 |
045234-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.136)
|
| Stock # |
R7182 (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: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
96% (70/73) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930562C15Rik |
T |
C |
16: 4,667,578 (GRCm39) |
V323A |
unknown |
Het |
| AC117241.1 |
A |
G |
17: 7,620,087 (GRCm39) |
V158A |
unknown |
Het |
| Acadm |
A |
G |
3: 153,647,518 (GRCm39) |
|
probably null |
Het |
| Adcy10 |
T |
G |
1: 165,371,039 (GRCm39) |
|
probably null |
Het |
| Aldh6a1 |
C |
T |
12: 84,488,605 (GRCm39) |
A94T |
probably benign |
Het |
| Ano2 |
T |
A |
6: 125,767,256 (GRCm39) |
L229Q |
probably damaging |
Het |
| Cacna1h |
C |
T |
17: 25,596,629 (GRCm39) |
R1828H |
probably damaging |
Het |
| Ccdc33 |
A |
T |
9: 57,941,456 (GRCm39) |
|
probably null |
Het |
| Cep112 |
A |
C |
11: 108,573,670 (GRCm39) |
D6A |
probably benign |
Het |
| Chd9 |
T |
C |
8: 91,733,250 (GRCm39) |
F1373S |
unknown |
Het |
| Cog5 |
T |
C |
12: 31,735,707 (GRCm39) |
L158P |
probably damaging |
Het |
| Col6a3 |
G |
A |
1: 90,731,400 (GRCm39) |
Q1618* |
probably null |
Het |
| Dlg5 |
A |
G |
14: 24,294,924 (GRCm39) |
V3A |
|
Het |
| Dnah7a |
T |
A |
1: 53,659,620 (GRCm39) |
|
probably null |
Het |
| Dpp10 |
A |
T |
1: 123,268,880 (GRCm39) |
H716Q |
probably benign |
Het |
| Epor |
A |
G |
9: 21,874,625 (GRCm39) |
F35L |
probably benign |
Het |
| Ergic1 |
A |
T |
17: 26,873,856 (GRCm39) |
Y92F |
|
Het |
| Fam98a |
G |
A |
17: 75,846,013 (GRCm39) |
Q273* |
probably null |
Het |
| Fhdc1 |
G |
A |
3: 84,356,157 (GRCm39) |
T429I |
probably damaging |
Het |
| Fmnl2 |
T |
A |
2: 52,997,453 (GRCm39) |
L468Q |
unknown |
Het |
| Fmnl3 |
C |
T |
15: 99,219,663 (GRCm39) |
R695Q |
probably damaging |
Het |
| Gabrg2 |
T |
C |
11: 41,811,333 (GRCm39) |
M271V |
probably damaging |
Het |
| Garin4 |
C |
T |
1: 190,895,548 (GRCm39) |
R365H |
probably damaging |
Het |
| Gk5 |
G |
T |
9: 96,001,579 (GRCm39) |
V26L |
possibly damaging |
Het |
| Gm14412 |
A |
C |
2: 177,007,408 (GRCm39) |
N162K |
probably benign |
Het |
| Gm3604 |
T |
C |
13: 62,519,689 (GRCm39) |
D22G |
probably damaging |
Het |
| Gm5565 |
G |
T |
5: 146,094,865 (GRCm39) |
H294N |
probably benign |
Het |
| Hsf2 |
T |
A |
10: 57,381,272 (GRCm39) |
D287E |
possibly damaging |
Het |
| Ift70b |
A |
T |
2: 75,768,293 (GRCm39) |
Y153* |
probably null |
Het |
| Impdh2 |
G |
A |
9: 108,440,407 (GRCm39) |
R231H |
possibly damaging |
Het |
| Irak3 |
T |
C |
10: 120,002,416 (GRCm39) |
H234R |
probably damaging |
Het |
| Lrba |
GTTCCCTTC |
GTTC |
3: 86,648,765 (GRCm39) |
|
probably null |
Het |
| Lrch3 |
T |
A |
16: 32,814,149 (GRCm39) |
D551E |
probably benign |
Het |
| Manba |
A |
T |
3: 135,273,274 (GRCm39) |
N736I |
probably benign |
Het |
| Map2 |
A |
G |
1: 66,451,812 (GRCm39) |
D234G |
possibly damaging |
Het |
| Mdk |
C |
A |
2: 91,761,197 (GRCm39) |
K121N |
unknown |
Het |
| Mfn1 |
T |
A |
3: 32,618,369 (GRCm39) |
L526Q |
probably damaging |
Het |
| Mfsd2b |
A |
G |
12: 4,916,157 (GRCm39) |
|
probably null |
Het |
| Mnat1 |
G |
T |
12: 73,277,452 (GRCm39) |
E233* |
probably null |
Het |
| Mtmr4 |
T |
C |
11: 87,495,431 (GRCm39) |
|
probably null |
Het |
| Mtrf1 |
A |
G |
14: 79,660,904 (GRCm39) |
E432G |
possibly damaging |
Het |
| Muc5b |
C |
T |
7: 141,396,382 (GRCm39) |
R165C |
unknown |
Het |
| Naip6 |
T |
A |
13: 100,452,657 (GRCm39) |
I135F |
probably benign |
Het |
| Nod2 |
A |
G |
8: 89,390,460 (GRCm39) |
T256A |
probably benign |
Het |
| Notch4 |
T |
A |
17: 34,802,473 (GRCm39) |
V1298E |
probably damaging |
Het |
| Nudc |
G |
T |
4: 133,261,776 (GRCm39) |
D169E |
possibly damaging |
Het |
| Obscn |
A |
T |
11: 58,925,927 (GRCm39) |
I5602N |
probably damaging |
Het |
| Or5b114-ps1 |
G |
A |
19: 13,353,208 (GRCm39) |
G294E |
unknown |
Het |
| Osbpl10 |
G |
A |
9: 114,896,319 (GRCm39) |
D18N |
probably damaging |
Het |
| Pigk |
G |
A |
3: 152,428,188 (GRCm39) |
V72I |
possibly damaging |
Het |
| Prl8a6 |
C |
T |
13: 27,621,153 (GRCm39) |
E26K |
probably damaging |
Het |
| Prpf8 |
A |
G |
11: 75,381,553 (GRCm39) |
Y318C |
possibly damaging |
Het |
| Rab13 |
A |
G |
3: 90,132,070 (GRCm39) |
D159G |
possibly damaging |
Het |
| Ryr2 |
T |
C |
13: 11,774,643 (GRCm39) |
H1171R |
probably benign |
Het |
| Scn4a |
T |
A |
11: 106,221,134 (GRCm39) |
I842F |
probably benign |
Het |
| Scnm1 |
A |
T |
3: 95,041,165 (GRCm39) |
N14K |
possibly damaging |
Het |
| Serinc1 |
A |
T |
10: 57,400,457 (GRCm39) |
I137N |
probably benign |
Het |
| Slc30a3 |
T |
C |
5: 31,244,169 (GRCm39) |
Q371R |
probably benign |
Het |
| Slc30a3 |
A |
C |
5: 31,247,014 (GRCm39) |
M103R |
probably damaging |
Het |
| Slco1a1 |
A |
T |
6: 141,857,565 (GRCm39) |
C589S |
probably damaging |
Het |
| Slco1b2 |
A |
G |
6: 141,602,656 (GRCm39) |
Y203C |
probably damaging |
Het |
| Spty2d1 |
A |
T |
7: 46,648,271 (GRCm39) |
D219E |
probably benign |
Het |
| Svep1 |
A |
T |
4: 58,043,991 (GRCm39) |
S3552T |
probably benign |
Het |
| Tmem62 |
A |
G |
2: 120,835,224 (GRCm39) |
I516M |
probably benign |
Het |
| Trim61 |
A |
T |
8: 65,466,266 (GRCm39) |
S332T |
probably damaging |
Het |
| Trmt10b |
A |
C |
4: 45,308,520 (GRCm39) |
T227P |
probably benign |
Het |
| Trpc3 |
T |
C |
3: 36,709,258 (GRCm39) |
Q406R |
probably benign |
Het |
| Ush2a |
A |
T |
1: 188,485,740 (GRCm39) |
Y2950F |
probably benign |
Het |
| Usp32 |
C |
T |
11: 84,930,996 (GRCm39) |
G478D |
probably benign |
Het |
| Wdfy3 |
A |
G |
5: 102,091,758 (GRCm39) |
L527P |
possibly damaging |
Het |
| Wdr73 |
A |
G |
7: 80,543,426 (GRCm39) |
V163A |
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 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CTGAGTGTCAAGTGGAGCTG -3'
(R):5'- TTCTTTCTGGAGGCGCAACAG -3'
Sequencing Primer
(F):5'- GCTACACAGTGAGTCCCAGTCTC -3'
(R):5'- GGCGCAACAGCTCCGAAAG -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation