Incidental Mutation 'R6165:Rgl2'
ID |
490119 |
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 |
044311-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.136)
|
Stock # |
R6165 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
34148813-34156661 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 34150739 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 66
(T66A)
|
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: T66A
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000041082 Gene: ENSMUSG00000041354 AA Change: T66A
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: ENSMUST00000174410
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173379
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173718
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174442
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173502
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174676
|
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: 99.9%
- 3x: 99.5%
- 10x: 97.9%
- 20x: 94.1%
|
Validation Efficiency |
98% (47/48) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ankrd35 |
A |
G |
3: 96,590,623 (GRCm39) |
E303G |
possibly damaging |
Het |
Atosa |
A |
G |
9: 74,932,954 (GRCm39) |
T974A |
probably damaging |
Het |
C2cd5 |
T |
C |
6: 142,995,954 (GRCm39) |
T389A |
possibly damaging |
Het |
Catsperb |
T |
A |
12: 101,542,075 (GRCm39) |
Y592N |
possibly damaging |
Het |
Cfap91 |
A |
G |
16: 38,154,173 (GRCm39) |
F124S |
possibly damaging |
Het |
Cnot9 |
T |
C |
1: 74,567,952 (GRCm39) |
V280A |
probably benign |
Het |
Cyld |
A |
G |
8: 89,473,561 (GRCm39) |
I927V |
possibly damaging |
Het |
Etfdh |
A |
T |
3: 79,512,251 (GRCm39) |
S490T |
probably benign |
Het |
Fance |
C |
T |
17: 28,545,068 (GRCm39) |
R150C |
probably benign |
Het |
Far1 |
A |
G |
7: 113,153,425 (GRCm39) |
K353E |
probably benign |
Het |
Fbn1 |
T |
C |
2: 125,174,283 (GRCm39) |
I1858V |
probably damaging |
Het |
Frem1 |
T |
C |
4: 82,874,492 (GRCm39) |
K1359E |
probably benign |
Het |
Ghdc |
T |
G |
11: 100,659,928 (GRCm39) |
E273A |
possibly damaging |
Het |
Gpt |
A |
G |
15: 76,582,170 (GRCm39) |
D209G |
probably benign |
Het |
Hspb7 |
T |
C |
4: 141,149,862 (GRCm39) |
F83L |
probably benign |
Het |
Itga7 |
A |
G |
10: 128,778,804 (GRCm39) |
I306M |
probably benign |
Het |
Itgb5 |
A |
G |
16: 33,719,612 (GRCm39) |
E261G |
probably benign |
Het |
Kcnj14 |
G |
T |
7: 45,469,424 (GRCm39) |
A27E |
possibly damaging |
Het |
Kif13b |
A |
G |
14: 64,979,760 (GRCm39) |
H470R |
probably damaging |
Het |
Macroh2a1 |
A |
T |
13: 56,252,268 (GRCm39) |
N108K |
probably damaging |
Het |
Morc3 |
T |
C |
16: 93,638,271 (GRCm39) |
F18L |
probably damaging |
Het |
Mrgprb8 |
T |
A |
7: 48,038,565 (GRCm39) |
C79S |
possibly damaging |
Het |
Mroh2b |
T |
A |
15: 4,947,832 (GRCm39) |
M549K |
probably benign |
Het |
Msl1 |
T |
C |
11: 98,695,673 (GRCm39) |
V563A |
probably damaging |
Het |
Nwd1 |
C |
T |
8: 73,388,814 (GRCm39) |
R81W |
probably damaging |
Het |
Or5b124 |
A |
T |
19: 13,610,507 (GRCm39) |
I11F |
possibly damaging |
Het |
Or5b124 |
C |
T |
19: 13,610,952 (GRCm39) |
A159V |
probably benign |
Het |
Phf2 |
C |
A |
13: 48,967,341 (GRCm39) |
|
probably null |
Het |
Pjvk |
T |
G |
2: 76,480,562 (GRCm39) |
|
probably null |
Het |
Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Het |
Rtkn |
G |
T |
6: 83,122,944 (GRCm39) |
E67D |
probably damaging |
Het |
Serpinb9 |
T |
A |
13: 33,192,807 (GRCm39) |
F121L |
possibly damaging |
Het |
Slc34a1 |
G |
A |
13: 23,999,053 (GRCm39) |
V149I |
probably benign |
Het |
Sobp |
A |
G |
10: 42,898,599 (GRCm39) |
S329P |
probably damaging |
Het |
Syne1 |
A |
T |
10: 5,375,678 (GRCm39) |
L138Q |
probably damaging |
Het |
Tfr2 |
T |
A |
5: 137,578,519 (GRCm39) |
V449D |
probably damaging |
Het |
Tmem151b |
T |
C |
17: 45,856,711 (GRCm39) |
Y243C |
probably damaging |
Het |
Trank1 |
T |
C |
9: 111,220,940 (GRCm39) |
V2559A |
probably benign |
Het |
Trim35 |
T |
C |
14: 66,546,654 (GRCm39) |
Y474H |
probably damaging |
Het |
Uso1 |
A |
T |
5: 92,335,126 (GRCm39) |
L495F |
probably damaging |
Het |
Wdr24 |
A |
G |
17: 26,045,395 (GRCm39) |
I377V |
probably benign |
Het |
Xpo5 |
T |
A |
17: 46,546,883 (GRCm39) |
V878D |
possibly damaging |
Het |
Zfc3h1 |
A |
G |
10: 115,256,574 (GRCm39) |
I1515V |
probably benign |
Het |
Zfp319 |
CA |
C |
8: 96,054,733 (GRCm39) |
489 |
probably null |
Het |
Zfp384 |
T |
G |
6: 125,001,896 (GRCm39) |
|
probably null |
Het |
Zfp704 |
G |
T |
3: 9,508,946 (GRCm39) |
P416T |
probably benign |
Het |
Zfr |
C |
T |
15: 12,146,331 (GRCm39) |
A294V |
unknown |
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 |
|
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'- GTTGAAACCCTCACTGCAAC -3'
(R):5'- TTCTGCCCCGGTTCAGAAATG -3'
Sequencing Primer
(F):5'- TGGGGTCACCAGTACCCTCTAC -3'
(R):5'- CCCGGTTCAGAAATGGCTTAAATC -3'
|
Posted On |
2017-10-10 |