Incidental Mutation 'R4204:Rgl2'
| ID |
318847 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rgl2
|
| Ensembl Gene |
ENSMUSG00000041354 |
| Gene Name |
ral guanine nucleotide dissociation stimulator-like 2 |
| Synonyms |
KE1.5, Rab2l, Rgt2, Rlf |
| MMRRC Submission |
041033-MU
|
| Accession Numbers |
|
| Is this an essential gene? |
Probably non essential
(E-score: 0.104)
|
| Stock # |
R4204 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
33929543-33937687 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 33936932 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Leucine
at position 694
(V694L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000041082
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025163]
[ENSMUST00000025170]
[ENSMUST00000047503]
[ENSMUST00000173363]
[ENSMUST00000179418]
[ENSMUST00000174426]
[ENSMUST00000174048]
|
| 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 |
probably benign
Transcript: ENSMUST00000025170
|
| SMART Domains |
Protein: ENSMUSP00000025170
Gene: ENSMUSG00000024312
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
126 |
155 |
N/A |
INTRINSIC |
|
low complexity region
|
204 |
217 |
N/A |
INTRINSIC |
|
WD40
|
225 |
262 |
1.02e2 |
SMART |
|
WD40
|
267 |
302 |
3.3e1 |
SMART |
|
Blast:WD40
|
305 |
344 |
8e-19 |
BLAST |
|
WD40
|
347 |
386 |
9.52e-6 |
SMART |
|
Blast:WD40
|
392 |
426 |
3e-14 |
BLAST |
|
BING4CT
|
439 |
517 |
8.85e-53 |
SMART |
|
low complexity region
|
542 |
556 |
N/A |
INTRINSIC |
|
low complexity region
|
586 |
593 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000047503
AA Change: V694L
PolyPhen 2
Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000041082
Gene: ENSMUSG00000041354
AA Change: V694L
| 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: ENSMUST00000172546
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173153
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173258
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173266
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000173284
AA Change: V246L
|
| SMART Domains |
Protein: ENSMUSP00000134312
Gene: ENSMUSG00000041354
AA Change: V246L
| 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 |
noncoding transcript
Transcript: ENSMUST00000173379
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173502
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173678
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173718
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173857
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174410
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174442
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174676
|
| 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 |
|
| 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: ENSMUST00000174048
|
| SMART Domains |
Protein: ENSMUSP00000133656
Gene: ENSMUSG00000024309
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Prefoldin_2
|
10 |
115 |
2e-28 |
PFAM |
|
| Meta Mutation Damage Score |
0.1646 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.5%
|
| Validation Efficiency |
98% (46/47) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2810474O19Rik |
C |
T |
6: 149,329,544 |
R1363* |
probably null |
Het |
| Abca1 |
T |
C |
4: 53,090,369 |
K360R |
probably benign |
Het |
| Ano7 |
A |
G |
1: 93,380,478 |
D77G |
probably benign |
Het |
| B130006D01Rik |
A |
G |
11: 95,726,424 |
|
probably benign |
Het |
| BC028528 |
A |
T |
3: 95,889,745 |
Y37* |
probably null |
Het |
| Ccdc171 |
A |
T |
4: 83,681,155 |
M736L |
probably benign |
Het |
| Ccdc88a |
A |
G |
11: 29,463,399 |
K646E |
probably damaging |
Het |
| Fam83b |
T |
C |
9: 76,503,053 |
T192A |
probably benign |
Het |
| Hgs |
C |
A |
11: 120,477,187 |
P241T |
probably damaging |
Het |
| Itga4 |
T |
C |
2: 79,279,161 |
Y235H |
probably damaging |
Het |
| Kank2 |
A |
G |
9: 21,795,627 |
Y32H |
probably damaging |
Het |
| Kprp |
A |
C |
3: 92,824,739 |
S335A |
probably damaging |
Het |
| Lgals9 |
C |
T |
11: 78,969,816 |
|
probably benign |
Het |
| Mfrp |
G |
A |
9: 44,105,228 |
G407S |
possibly damaging |
Het |
| Mfsd9 |
C |
T |
1: 40,781,510 |
G160R |
probably damaging |
Het |
| Mkl2 |
A |
T |
16: 13,403,255 |
Q776L |
possibly damaging |
Het |
| Mtcl1 |
T |
C |
17: 66,438,261 |
Y35C |
probably damaging |
Het |
| Nhej1 |
A |
T |
1: 75,046,623 |
I6N |
probably damaging |
Het |
| Npy5r |
G |
T |
8: 66,682,041 |
Y33* |
probably null |
Het |
| Olfr1225 |
A |
G |
2: 89,170,780 |
V144A |
probably benign |
Het |
| Pcdha8 |
G |
C |
18: 36,994,684 |
V740L |
probably damaging |
Het |
| Pde8b |
C |
A |
13: 95,222,545 |
C90F |
probably benign |
Het |
| Pex14 |
T |
C |
4: 148,963,527 |
T198A |
probably benign |
Het |
| Ppp2r2b |
T |
A |
18: 42,738,050 |
H62L |
probably benign |
Het |
| Prodh |
A |
G |
16: 18,072,318 |
V553A |
probably damaging |
Het |
| Rasgef1c |
G |
A |
11: 49,958,708 |
V137M |
probably benign |
Het |
| Rnf133 |
T |
C |
6: 23,649,049 |
N294D |
probably benign |
Het |
| Rpe65 |
G |
A |
3: 159,604,410 |
A107T |
probably damaging |
Het |
| Sacs |
A |
G |
14: 61,173,443 |
R56G |
possibly damaging |
Het |
| Serp2 |
A |
G |
14: 76,556,462 |
I18T |
probably damaging |
Het |
| Shroom3 |
G |
T |
5: 92,943,086 |
V1151F |
probably damaging |
Het |
| Sis |
T |
C |
3: 72,961,082 |
I92V |
probably benign |
Het |
| Tcaim |
A |
G |
9: 122,833,618 |
K417R |
probably benign |
Het |
| Tex11 |
C |
A |
X: 100,933,415 |
A487S |
possibly damaging |
Het |
| Tmem132c |
A |
G |
5: 127,563,765 |
D1000G |
possibly damaging |
Het |
| Trpm3 |
T |
A |
19: 22,987,564 |
D1474E |
probably benign |
Het |
| Ubxn2a |
T |
C |
12: 4,894,593 |
E43G |
probably damaging |
Het |
| Utp14b |
G |
A |
1: 78,664,822 |
E146K |
probably benign |
Het |
| Zfp800 |
C |
T |
6: 28,243,181 |
S595N |
probably benign |
Het |
|
| Other mutations in Rgl2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00514:Rgl2
|
APN |
17 |
33933136 |
missense |
probably benign |
0.31 |
|
IGL00898:Rgl2
|
APN |
17 |
33933418 |
missense |
possibly damaging |
0.95 |
|
IGL00965:Rgl2
|
APN |
17 |
33935936 |
missense |
probably benign |
0.00 |
|
IGL00985:Rgl2
|
APN |
17 |
33932101 |
missense |
probably damaging |
1.00 |
|
IGL02140:Rgl2
|
APN |
17 |
33933124 |
missense |
probably damaging |
1.00 |
|
IGL02214:Rgl2
|
APN |
17 |
33935189 |
missense |
probably benign |
0.06 |
|
IGL02486:Rgl2
|
APN |
17 |
33935980 |
missense |
probably damaging |
0.97 |
|
IGL02579:Rgl2
|
APN |
17 |
33937160 |
missense |
probably benign |
0.08 |
|
IGL02976:Rgl2
|
APN |
17 |
33933962 |
missense |
possibly damaging |
0.95 |
|
Hypotenuse
|
UTSW |
17 |
33931739 |
missense |
probably benign |
0.00 |
|
Pedernales
|
UTSW |
17 |
33932038 |
critical splice acceptor site |
probably null |
|
|
PIT4354001:Rgl2
|
UTSW |
17 |
33933940 |
missense |
possibly damaging |
0.80 |
|
R0347:Rgl2
|
UTSW |
17 |
33932738 |
missense |
probably damaging |
1.00 |
|
R0456:Rgl2
|
UTSW |
17 |
33936849 |
splice site |
probably null |
|
|
R0825:Rgl2
|
UTSW |
17 |
33935159 |
splice site |
probably null |
|
|
R1742:Rgl2
|
UTSW |
17 |
33937223 |
splice site |
probably null |
|
|
R1777:Rgl2
|
UTSW |
17 |
33931744 |
missense |
probably benign |
0.00 |
|
R1829:Rgl2
|
UTSW |
17 |
33933621 |
missense |
probably benign |
0.00 |
|
R1908:Rgl2
|
UTSW |
17 |
33932148 |
missense |
probably benign |
0.00 |
|
R1961:Rgl2
|
UTSW |
17 |
33933615 |
missense |
probably damaging |
1.00 |
|
R2102:Rgl2
|
UTSW |
17 |
33933340 |
splice site |
probably null |
|
|
R3001:Rgl2
|
UTSW |
17 |
33932605 |
missense |
probably benign |
0.00 |
|
R3002:Rgl2
|
UTSW |
17 |
33932605 |
missense |
probably benign |
0.00 |
|
R3755:Rgl2
|
UTSW |
17 |
33932597 |
missense |
probably benign |
0.01 |
|
R3756:Rgl2
|
UTSW |
17 |
33932597 |
missense |
probably benign |
0.01 |
|
R3978:Rgl2
|
UTSW |
17 |
33935162 |
missense |
probably benign |
0.02 |
|
R4042:Rgl2
|
UTSW |
17 |
33937262 |
missense |
probably damaging |
1.00 |
|
R4064:Rgl2
|
UTSW |
17 |
33937108 |
missense |
possibly damaging |
0.77 |
|
R4661:Rgl2
|
UTSW |
17 |
33933226 |
missense |
possibly damaging |
0.77 |
|
R4852:Rgl2
|
UTSW |
17 |
33937173 |
missense |
probably benign |
0.00 |
|
R4922:Rgl2
|
UTSW |
17 |
33932775 |
unclassified |
probably benign |
|
|
R5119:Rgl2
|
UTSW |
17 |
33937120 |
missense |
probably benign |
0.00 |
|
R5167:Rgl2
|
UTSW |
17 |
33935974 |
nonsense |
probably null |
|
|
R5279:Rgl2
|
UTSW |
17 |
33935948 |
missense |
probably benign |
|
|
R5319:Rgl2
|
UTSW |
17 |
33933555 |
missense |
probably benign |
0.02 |
|
R5337:Rgl2
|
UTSW |
17 |
33934984 |
missense |
probably damaging |
0.99 |
|
R5881:Rgl2
|
UTSW |
17 |
33932717 |
missense |
probably benign |
0.01 |
|
R5945:Rgl2
|
UTSW |
17 |
33932038 |
critical splice acceptor site |
probably null |
|
|
R6165:Rgl2
|
UTSW |
17 |
33931765 |
missense |
probably benign |
0.01 |
|
R6358:Rgl2
|
UTSW |
17 |
33937131 |
splice site |
probably null |
|
|
R6867:Rgl2
|
UTSW |
17 |
33932687 |
missense |
probably benign |
0.09 |
|
R7174:Rgl2
|
UTSW |
17 |
33934990 |
missense |
possibly damaging |
0.93 |
|
R7182:Rgl2
|
UTSW |
17 |
33934990 |
missense |
possibly damaging |
0.93 |
|
R7183:Rgl2
|
UTSW |
17 |
33934990 |
missense |
possibly damaging |
0.93 |
|
R7184:Rgl2
|
UTSW |
17 |
33934990 |
missense |
possibly damaging |
0.93 |
|
R7196:Rgl2
|
UTSW |
17 |
33933429 |
missense |
probably damaging |
1.00 |
|
R7203:Rgl2
|
UTSW |
17 |
33933429 |
missense |
probably damaging |
1.00 |
|
R7250:Rgl2
|
UTSW |
17 |
33933429 |
missense |
probably damaging |
1.00 |
|
R7253:Rgl2
|
UTSW |
17 |
33934990 |
missense |
possibly damaging |
0.93 |
|
R7254:Rgl2
|
UTSW |
17 |
33934990 |
missense |
possibly damaging |
0.93 |
|
R7255:Rgl2
|
UTSW |
17 |
33934990 |
missense |
possibly damaging |
0.93 |
|
R7256:Rgl2
|
UTSW |
17 |
33934990 |
missense |
possibly damaging |
0.93 |
|
R7282:Rgl2
|
UTSW |
17 |
33933429 |
missense |
probably damaging |
1.00 |
|
R7455:Rgl2
|
UTSW |
17 |
33932683 |
missense |
probably benign |
0.32 |
|
R7513:Rgl2
|
UTSW |
17 |
33932555 |
missense |
probably benign |
|
|
R7752:Rgl2
|
UTSW |
17 |
33935825 |
missense |
possibly damaging |
0.82 |
|
R7901:Rgl2
|
UTSW |
17 |
33935825 |
missense |
possibly damaging |
0.82 |
|
R7941:Rgl2
|
UTSW |
17 |
33931739 |
missense |
probably benign |
0.00 |
|
R8158:Rgl2
|
UTSW |
17 |
33936944 |
missense |
probably benign |
0.27 |
|
R8209:Rgl2
|
UTSW |
17 |
33932527 |
missense |
possibly damaging |
0.91 |
|
R8226:Rgl2
|
UTSW |
17 |
33932527 |
missense |
possibly damaging |
0.91 |
|
R8405:Rgl2
|
UTSW |
17 |
33933724 |
nonsense |
probably null |
|
|
R8871:Rgl2
|
UTSW |
17 |
33935000 |
missense |
probably damaging |
1.00 |
|
R9205:Rgl2
|
UTSW |
17 |
33936028 |
missense |
probably damaging |
1.00 |
|
R9591:Rgl2
|
UTSW |
17 |
33932477 |
missense |
possibly damaging |
0.50 |
|
X0028:Rgl2
|
UTSW |
17 |
33932458 |
splice site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACGGGAAACAGGTCATCATG -3'
(R):5'- CCATGGCATAGAAGACGTTAGC -3'
Sequencing Primer
(F):5'- TGGGTAGCCCTGTACATCCTAG -3'
(R):5'- CATAGAAGACGTTAGCTGAGTGTG -3'
|
| Posted On |
2015-06-10 |
Incidental Mutation