Incidental Mutation 'R1908:Rgl2'
ID |
210099 |
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 |
039927-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.136)
|
Stock # |
R1908 (G1)
|
Quality Score |
178 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
34148813-34156661 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 34151122 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 117
(T117A)
|
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 benign
Transcript: ENSMUST00000047503
AA Change: T117A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000041082 Gene: ENSMUSG00000041354 AA Change: T117A
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: ENSMUST00000174676
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173379
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173718
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174410
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173502
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174442
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173266
|
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: 97.3%
- 3x: 96.8%
- 10x: 95.4%
- 20x: 93.0%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 83 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca8b |
C |
A |
11: 109,847,924 (GRCm39) |
L852F |
possibly damaging |
Het |
Abcc6 |
T |
C |
7: 45,669,558 (GRCm39) |
|
probably null |
Het |
Alg11 |
T |
G |
8: 22,555,584 (GRCm39) |
C240G |
probably damaging |
Het |
Aox1 |
A |
G |
1: 58,141,783 (GRCm39) |
I1190V |
probably damaging |
Het |
Apc2 |
T |
G |
10: 80,150,678 (GRCm39) |
S1911A |
probably benign |
Het |
Arfgef3 |
T |
C |
10: 18,528,511 (GRCm39) |
D292G |
possibly damaging |
Het |
Arhgef4 |
C |
A |
1: 34,763,340 (GRCm39) |
S865R |
probably benign |
Het |
Ass1 |
T |
A |
2: 31,383,160 (GRCm39) |
Y190* |
probably null |
Het |
B4galnt3 |
A |
T |
6: 120,187,051 (GRCm39) |
|
probably null |
Het |
Btnl10 |
C |
A |
11: 58,811,367 (GRCm39) |
P230Q |
possibly damaging |
Het |
C3 |
A |
G |
17: 57,516,489 (GRCm39) |
Y1348H |
probably damaging |
Het |
Ccdc198 |
G |
T |
14: 49,464,032 (GRCm39) |
D292E |
probably damaging |
Het |
Cebpz |
A |
T |
17: 79,242,336 (GRCm39) |
Y439* |
probably null |
Het |
Cic |
C |
A |
7: 24,986,265 (GRCm39) |
T1229K |
probably damaging |
Het |
Clip4 |
T |
C |
17: 72,144,744 (GRCm39) |
S524P |
probably damaging |
Het |
Col6a3 |
A |
C |
1: 90,739,421 (GRCm39) |
I269R |
probably damaging |
Het |
Dbh |
C |
T |
2: 27,071,506 (GRCm39) |
T533I |
possibly damaging |
Het |
Dcaf17 |
A |
T |
2: 70,890,713 (GRCm39) |
R83* |
probably null |
Het |
Dennd2b |
G |
A |
7: 109,124,533 (GRCm39) |
Q686* |
probably null |
Het |
Dnah1 |
A |
G |
14: 30,984,515 (GRCm39) |
L3923P |
probably damaging |
Het |
Dnah7a |
A |
T |
1: 53,670,721 (GRCm39) |
D510E |
probably benign |
Het |
Dock6 |
A |
G |
9: 21,752,925 (GRCm39) |
F296S |
probably damaging |
Het |
Eif4enif1 |
T |
C |
11: 3,177,455 (GRCm39) |
S341P |
probably damaging |
Het |
Epb41l1 |
G |
T |
2: 156,352,737 (GRCm39) |
G461V |
possibly damaging |
Het |
Epg5 |
T |
A |
18: 78,002,247 (GRCm39) |
D555E |
probably benign |
Het |
Fes |
T |
C |
7: 80,036,609 (GRCm39) |
R113G |
probably damaging |
Het |
Garre1 |
T |
A |
7: 33,957,461 (GRCm39) |
I59L |
probably benign |
Het |
Gm10684 |
A |
G |
9: 45,021,511 (GRCm39) |
|
probably benign |
Het |
Gm12185 |
T |
C |
11: 48,806,231 (GRCm39) |
E320G |
probably benign |
Het |
Gm14412 |
G |
T |
2: 177,007,269 (GRCm39) |
H209N |
probably damaging |
Het |
Gm14412 |
A |
C |
2: 177,007,630 (GRCm39) |
S88R |
probably benign |
Het |
Grhl1 |
T |
A |
12: 24,658,555 (GRCm39) |
L400Q |
probably damaging |
Het |
Havcr1 |
T |
A |
11: 46,664,511 (GRCm39) |
Y216* |
probably null |
Het |
Hephl1 |
A |
C |
9: 14,985,420 (GRCm39) |
Y745* |
probably null |
Het |
Hmcn2 |
T |
G |
2: 31,301,922 (GRCm39) |
|
probably null |
Het |
Hs3st6 |
A |
G |
17: 24,977,110 (GRCm39) |
K197E |
possibly damaging |
Het |
Ifi214 |
C |
T |
1: 173,357,077 (GRCm39) |
V9I |
probably benign |
Het |
Jakmip2 |
T |
C |
18: 43,700,209 (GRCm39) |
T450A |
probably benign |
Het |
Lrp4 |
T |
A |
2: 91,328,753 (GRCm39) |
V1551D |
possibly damaging |
Het |
Macf1 |
A |
T |
4: 123,351,634 (GRCm39) |
H1634Q |
possibly damaging |
Het |
Mcpt8 |
T |
A |
14: 56,321,291 (GRCm39) |
I58F |
probably benign |
Het |
Mga |
T |
A |
2: 119,757,075 (GRCm39) |
H1018Q |
possibly damaging |
Het |
Myo10 |
T |
A |
15: 25,801,308 (GRCm39) |
V1499E |
probably damaging |
Het |
Myom2 |
G |
T |
8: 15,131,023 (GRCm39) |
D320Y |
probably damaging |
Het |
Or11g7 |
T |
A |
14: 50,691,295 (GRCm39) |
M262K |
probably damaging |
Het |
Or13a27 |
T |
C |
7: 139,925,378 (GRCm39) |
I175V |
probably benign |
Het |
Or2r11 |
C |
T |
6: 42,437,360 (GRCm39) |
V198M |
probably benign |
Het |
Or2t26 |
A |
C |
11: 49,039,101 (GRCm39) |
N6H |
possibly damaging |
Het |
Or4c115 |
G |
A |
2: 88,927,888 (GRCm39) |
P128S |
probably damaging |
Het |
Or5d47 |
A |
T |
2: 87,804,403 (GRCm39) |
V202D |
possibly damaging |
Het |
Pabpc4 |
G |
T |
4: 123,182,861 (GRCm39) |
R166L |
possibly damaging |
Het |
Pcdhb8 |
A |
G |
18: 37,489,015 (GRCm39) |
E231G |
possibly damaging |
Het |
Pomgnt2 |
A |
T |
9: 121,811,257 (GRCm39) |
I508N |
possibly damaging |
Het |
Ppp2r5e |
C |
G |
12: 75,516,341 (GRCm39) |
A239P |
probably damaging |
Het |
Prdm15 |
G |
T |
16: 97,638,885 (GRCm39) |
D58E |
probably benign |
Het |
Rp1 |
A |
G |
1: 4,418,943 (GRCm39) |
I723T |
probably damaging |
Het |
Serpina3g |
A |
G |
12: 104,207,536 (GRCm39) |
E233G |
probably damaging |
Het |
Skint6 |
T |
A |
4: 112,749,187 (GRCm39) |
S798C |
probably benign |
Het |
Slc35f1 |
T |
C |
10: 52,898,000 (GRCm39) |
L137P |
possibly damaging |
Het |
Slc6a20a |
T |
C |
9: 123,485,373 (GRCm39) |
N246S |
probably damaging |
Het |
Slc7a2 |
T |
C |
8: 41,369,534 (GRCm39) |
L663S |
probably benign |
Het |
Slco1a4 |
A |
G |
6: 141,761,173 (GRCm39) |
|
probably null |
Het |
Slit2 |
A |
G |
5: 48,439,330 (GRCm39) |
T41A |
probably damaging |
Het |
Smc2 |
T |
C |
4: 52,450,863 (GRCm39) |
I227T |
probably damaging |
Het |
Smg1 |
A |
G |
7: 117,753,422 (GRCm39) |
|
probably benign |
Het |
Ssu2 |
A |
T |
6: 112,361,388 (GRCm39) |
L23M |
probably benign |
Het |
Syne2 |
A |
G |
12: 76,141,053 (GRCm39) |
|
probably null |
Het |
Tekt1 |
T |
C |
11: 72,242,761 (GRCm39) |
T249A |
probably benign |
Het |
Tfr2 |
T |
C |
5: 137,569,954 (GRCm39) |
V120A |
probably benign |
Het |
Thsd7b |
C |
T |
1: 129,605,846 (GRCm39) |
P529L |
probably damaging |
Het |
Tll1 |
C |
T |
8: 64,478,141 (GRCm39) |
D871N |
probably damaging |
Het |
Tlr11 |
A |
C |
14: 50,598,664 (GRCm39) |
I217L |
probably benign |
Het |
Tmem87b |
T |
A |
2: 128,673,479 (GRCm39) |
V241D |
probably damaging |
Het |
Tshz2 |
T |
A |
2: 169,727,465 (GRCm39) |
I218N |
possibly damaging |
Het |
Vmn1r18 |
A |
T |
6: 57,367,026 (GRCm39) |
I176N |
possibly damaging |
Het |
Vmn2r68 |
T |
A |
7: 84,883,260 (GRCm39) |
H164L |
probably benign |
Het |
Vmn2r74 |
T |
C |
7: 85,601,650 (GRCm39) |
T663A |
probably benign |
Het |
Vmn2r8 |
T |
C |
5: 108,945,436 (GRCm39) |
T724A |
probably benign |
Het |
Wdr11 |
T |
C |
7: 129,206,954 (GRCm39) |
V289A |
possibly damaging |
Het |
Zfp62 |
T |
A |
11: 49,107,047 (GRCm39) |
D379E |
probably damaging |
Het |
Zfp78 |
C |
T |
7: 6,381,897 (GRCm39) |
P316S |
probably damaging |
Het |
Zfyve27 |
T |
G |
19: 42,159,987 (GRCm39) |
M1R |
probably null |
Het |
Zkscan8 |
G |
A |
13: 21,709,325 (GRCm39) |
P191L |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- TTTCTGAACCGGGGCAGAAATAAG -3'
(R):5'- GAGATTCAAGGGCTTCCAGC -3'
Sequencing Primer
(F):5'- CCGGGGCAGAAATAAGCTAGATC -3'
(R):5'- TTCCAGCCTGGGGATGAG -3'
|
Posted On |
2014-06-30 |