Incidental Mutation 'R5945:Rgl2'
| ID |
460591 |
| 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 |
044137-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.136)
|
| Stock # |
R5945 (G1)
|
| Quality Score |
208 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
34148813-34156661 bp(+) (GRCm39) |
| Type of Mutation |
critical splice acceptor site |
| DNA Base Change (assembly) |
A to G
at 34151012 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| 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
|
| SMART Domains |
Protein: ENSMUSP00000041082
Gene: ENSMUSG00000041354
| 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: ENSMUST00000173379
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174676
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174442
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174410
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173502
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173718
|
| 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 |
|
| Meta Mutation Damage Score |
0.9488 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.6%
|
| Validation Efficiency |
100% (101/101) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 83 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930488N24Rik |
T |
C |
17: 14,326,601 (GRCm39) |
|
noncoding transcript |
Het |
| Abca13 |
C |
T |
11: 9,243,398 (GRCm39) |
H1754Y |
probably benign |
Het |
| Abi1 |
T |
C |
2: 22,929,977 (GRCm39) |
E34G |
probably damaging |
Het |
| Apobec3 |
C |
T |
15: 79,782,047 (GRCm39) |
T19I |
probably damaging |
Het |
| Arel1 |
C |
A |
12: 84,973,121 (GRCm39) |
V559L |
probably benign |
Het |
| Arhgef10 |
T |
C |
8: 15,030,028 (GRCm39) |
|
probably null |
Het |
| Asb6 |
T |
C |
2: 30,718,215 (GRCm39) |
|
probably benign |
Het |
| Asxl2 |
T |
C |
12: 3,550,439 (GRCm39) |
V727A |
possibly damaging |
Het |
| Atp13a5 |
C |
A |
16: 29,055,995 (GRCm39) |
R1100L |
probably benign |
Het |
| Atp6v1a |
A |
G |
16: 43,920,309 (GRCm39) |
V429A |
probably damaging |
Het |
| Caml |
A |
G |
13: 55,776,445 (GRCm39) |
Y228C |
probably damaging |
Het |
| Ccdc14 |
A |
G |
16: 34,543,958 (GRCm39) |
E772G |
probably damaging |
Het |
| Ccdc96 |
A |
G |
5: 36,643,194 (GRCm39) |
E400G |
probably damaging |
Het |
| Ces1h |
T |
A |
8: 94,090,254 (GRCm39) |
E266V |
probably benign |
Het |
| Chd5 |
G |
T |
4: 152,464,408 (GRCm39) |
Q1522H |
probably benign |
Het |
| CN725425 |
T |
A |
15: 91,129,980 (GRCm39) |
I281N |
possibly damaging |
Het |
| Cngb3 |
A |
T |
4: 19,283,579 (GRCm39) |
E62V |
probably null |
Het |
| Cops5 |
T |
A |
1: 10,108,235 (GRCm39) |
|
probably benign |
Het |
| Crhr2 |
T |
A |
6: 55,077,667 (GRCm39) |
I232F |
possibly damaging |
Het |
| Cxcl3 |
C |
T |
5: 90,934,175 (GRCm39) |
|
probably benign |
Het |
| Ddx31 |
T |
A |
2: 28,749,902 (GRCm39) |
I308N |
probably damaging |
Het |
| Efcab14 |
T |
A |
4: 115,613,664 (GRCm39) |
V204D |
probably damaging |
Het |
| Emsy |
T |
C |
7: 98,268,590 (GRCm39) |
T484A |
probably damaging |
Het |
| Ep400 |
A |
T |
5: 110,830,732 (GRCm39) |
I2257N |
unknown |
Het |
| Epb41l4a |
T |
A |
18: 33,961,783 (GRCm39) |
Q420L |
possibly damaging |
Het |
| Fat4 |
A |
G |
3: 39,037,355 (GRCm39) |
D3669G |
probably benign |
Het |
| Fmnl2 |
C |
A |
2: 53,004,211 (GRCm39) |
T607K |
probably damaging |
Het |
| Glod4 |
T |
C |
11: 76,125,297 (GRCm39) |
Y135C |
probably damaging |
Het |
| Gm10912 |
A |
G |
2: 103,896,961 (GRCm39) |
I33M |
possibly damaging |
Het |
| Gm5592 |
T |
C |
7: 40,865,036 (GRCm39) |
|
probably benign |
Het |
| Gria4 |
A |
G |
9: 4,456,122 (GRCm39) |
L726P |
probably damaging |
Het |
| H2-M10.4 |
T |
C |
17: 36,771,518 (GRCm39) |
E220G |
probably benign |
Het |
| Itga1 |
T |
G |
13: 115,103,126 (GRCm39) |
N1102H |
probably benign |
Het |
| Itpk1 |
A |
G |
12: 102,554,812 (GRCm39) |
I6T |
probably damaging |
Het |
| Kcnh4 |
T |
C |
11: 100,636,148 (GRCm39) |
D833G |
probably damaging |
Het |
| Kdm1a |
T |
C |
4: 136,296,012 (GRCm39) |
|
probably null |
Het |
| Kif24 |
G |
A |
4: 41,428,670 (GRCm39) |
Q97* |
probably null |
Het |
| Klhl2 |
T |
C |
8: 65,202,762 (GRCm39) |
I479V |
probably benign |
Het |
| Large1 |
T |
C |
8: 73,578,828 (GRCm39) |
Y459C |
probably damaging |
Het |
| Lcn8 |
T |
G |
2: 25,545,509 (GRCm39) |
L169R |
probably damaging |
Het |
| Loxl3 |
T |
G |
6: 83,014,492 (GRCm39) |
S133R |
probably damaging |
Het |
| Lyzl4 |
A |
G |
9: 121,413,529 (GRCm39) |
Y4H |
unknown |
Het |
| Marchf7 |
A |
G |
2: 60,071,331 (GRCm39) |
K612E |
probably damaging |
Het |
| Mreg |
C |
T |
1: 72,231,359 (GRCm39) |
G33D |
probably benign |
Het |
| Ms4a6c |
A |
C |
19: 11,457,863 (GRCm39) |
|
probably benign |
Het |
| Nrbf2 |
G |
A |
10: 67,103,299 (GRCm39) |
S268F |
possibly damaging |
Het |
| Oog4 |
T |
A |
4: 143,164,293 (GRCm39) |
I341F |
probably benign |
Het |
| Or4k5 |
A |
G |
14: 50,386,220 (GRCm39) |
V37A |
probably benign |
Het |
| Or5h26 |
A |
G |
16: 58,988,482 (GRCm39) |
L8P |
probably benign |
Het |
| Or5h27 |
C |
T |
16: 59,006,091 (GRCm39) |
V252I |
unknown |
Het |
| Or5l14 |
A |
T |
2: 87,792,946 (GRCm39) |
C97S |
probably damaging |
Het |
| Pcdhb5 |
G |
A |
18: 37,454,523 (GRCm39) |
R301Q |
probably benign |
Het |
| Podn |
T |
C |
4: 107,878,910 (GRCm39) |
K174R |
possibly damaging |
Het |
| Pphln1 |
T |
C |
15: 93,353,413 (GRCm39) |
|
probably null |
Het |
| Ppp2r1a |
C |
G |
17: 21,179,675 (GRCm39) |
H112D |
possibly damaging |
Het |
| Prmt5 |
A |
G |
14: 54,752,344 (GRCm39) |
F151L |
possibly damaging |
Het |
| Ptch1 |
A |
T |
13: 63,721,233 (GRCm39) |
|
probably benign |
Het |
| Ryr2 |
A |
T |
13: 11,675,008 (GRCm39) |
I3373N |
probably damaging |
Het |
| Scap |
A |
G |
9: 110,213,664 (GRCm39) |
N1209S |
probably benign |
Het |
| Sin3b |
T |
C |
8: 73,457,793 (GRCm39) |
S170P |
probably damaging |
Het |
| Slc22a4 |
A |
T |
11: 53,886,854 (GRCm39) |
I296N |
probably damaging |
Het |
| Slco1a8 |
T |
A |
6: 141,940,008 (GRCm39) |
N145I |
probably damaging |
Het |
| Slco2a1 |
T |
C |
9: 102,923,989 (GRCm39) |
S68P |
probably damaging |
Het |
| Snx8 |
A |
G |
5: 140,339,235 (GRCm39) |
C161R |
probably benign |
Het |
| Spryd3 |
C |
T |
15: 102,026,630 (GRCm39) |
C347Y |
probably benign |
Het |
| Srsf11 |
C |
T |
3: 157,728,981 (GRCm39) |
|
probably benign |
Het |
| Strn3 |
T |
C |
12: 51,676,279 (GRCm39) |
T333A |
probably benign |
Het |
| Swt1 |
T |
A |
1: 151,286,921 (GRCm39) |
E190D |
probably benign |
Het |
| Tchh |
A |
T |
3: 93,352,644 (GRCm39) |
I695F |
unknown |
Het |
| Tfap4 |
G |
A |
16: 4,363,493 (GRCm39) |
S314L |
possibly damaging |
Het |
| Tigd3 |
G |
T |
19: 5,941,894 (GRCm39) |
T412K |
probably benign |
Het |
| Tmem184b |
T |
A |
15: 79,249,681 (GRCm39) |
|
probably null |
Het |
| Trpa1 |
T |
C |
1: 14,968,359 (GRCm39) |
D469G |
probably benign |
Het |
| Tssk1 |
T |
C |
16: 17,712,565 (GRCm39) |
F117L |
probably damaging |
Het |
| Tuba3b |
T |
A |
6: 145,565,471 (GRCm39) |
M313K |
probably damaging |
Het |
| Tubgcp6 |
T |
C |
15: 88,993,420 (GRCm39) |
|
probably null |
Het |
| Vav1 |
A |
G |
17: 57,608,870 (GRCm39) |
K345E |
possibly damaging |
Het |
| Zdhhc4 |
G |
A |
5: 143,310,641 (GRCm39) |
R64C |
probably damaging |
Het |
| Zfp280d |
T |
A |
9: 72,269,614 (GRCm39) |
L892* |
probably null |
Het |
| Zfp46 |
T |
A |
4: 136,014,528 (GRCm39) |
M3K |
probably damaging |
Het |
| Zfp607b |
C |
A |
7: 27,401,841 (GRCm39) |
P99Q |
probably benign |
Het |
| Zfp647 |
G |
A |
15: 76,796,285 (GRCm39) |
P125L |
probably damaging |
Het |
| Zfp990 |
T |
A |
4: 145,264,613 (GRCm39) |
I537N |
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ATCACGACTTTGAGGTCTTGC -3'
(R):5'- TCAAAGGGAATCCAGGAGCCTC -3'
Sequencing Primer
(F):5'- GTCTTGCCTCTCGGtttt -3'
(R):5'- GAGCCTCCTAACCCTTGGC -3'
|
| Posted On |
2017-02-28 |
Incidental Mutation