Incidental Mutation 'R8158:Rgl2'
| ID |
633396 |
| 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 |
067584-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.136)
|
| Stock # |
R8158 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
34148813-34156661 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 34155918 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 698
(F698L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000041082
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025163]
[ENSMUST00000025170]
[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 |
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: F698L
PolyPhen 2
Score 0.267 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000041082
Gene: ENSMUSG00000041354
AA Change: F698L
| 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: F250L
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abl2 |
T |
A |
1: 156,469,639 (GRCm39) |
S968T |
probably benign |
Het |
| Adcy8 |
T |
C |
15: 64,655,655 (GRCm39) |
D608G |
probably benign |
Het |
| Adgb |
C |
T |
10: 10,254,478 (GRCm39) |
V1162M |
probably benign |
Het |
| Agrn |
A |
G |
4: 156,258,346 (GRCm39) |
V1040A |
probably benign |
Het |
| Amer3 |
A |
T |
1: 34,626,741 (GRCm39) |
T327S |
possibly damaging |
Het |
| Apaf1 |
C |
T |
10: 90,895,520 (GRCm39) |
C426Y |
probably benign |
Het |
| Bsn |
T |
C |
9: 107,987,232 (GRCm39) |
D2840G |
unknown |
Het |
| Camsap1 |
A |
T |
2: 25,834,440 (GRCm39) |
C406* |
probably null |
Het |
| Cbr2 |
A |
T |
11: 120,621,123 (GRCm39) |
M158K |
probably damaging |
Het |
| Cgrrf1 |
T |
C |
14: 47,091,192 (GRCm39) |
S239P |
probably benign |
Het |
| Clnk |
C |
A |
5: 38,952,254 (GRCm39) |
|
probably null |
Het |
| Csad |
T |
C |
15: 102,086,197 (GRCm39) |
M445V |
probably damaging |
Het |
| Dnajb7 |
T |
A |
15: 81,291,600 (GRCm39) |
N246Y |
probably damaging |
Het |
| Dok6 |
T |
C |
18: 89,492,071 (GRCm39) |
I169V |
probably benign |
Het |
| H2bc14 |
T |
C |
13: 21,906,631 (GRCm39) |
Y122H |
probably benign |
Het |
| Il1f10 |
T |
G |
2: 24,181,267 (GRCm39) |
I11R |
possibly damaging |
Het |
| Irs1 |
C |
T |
1: 82,267,254 (GRCm39) |
V321M |
probably damaging |
Het |
| Itga9 |
T |
C |
9: 118,706,211 (GRCm39) |
F938L |
probably damaging |
Het |
| Kif7 |
T |
C |
7: 79,354,442 (GRCm39) |
D781G |
probably damaging |
Het |
| Klhl41 |
A |
T |
2: 69,501,505 (GRCm39) |
N322I |
probably damaging |
Het |
| Krtap31-1 |
T |
G |
11: 99,798,901 (GRCm39) |
C35G |
possibly damaging |
Het |
| Lsm11 |
A |
T |
11: 45,824,824 (GRCm39) |
D234E |
probably benign |
Het |
| Med6 |
T |
C |
12: 81,620,677 (GRCm39) |
K223R |
probably benign |
Het |
| Mfsd4b2 |
G |
A |
10: 39,798,064 (GRCm39) |
T97I |
probably benign |
Het |
| Mrgpra1 |
A |
T |
7: 46,985,204 (GRCm39) |
C158* |
probably null |
Het |
| Nr2e1 |
T |
C |
10: 42,458,881 (GRCm39) |
T8A |
probably benign |
Het |
| Oas2 |
T |
C |
5: 120,887,838 (GRCm39) |
M1V |
probably null |
Het |
| Or13a27 |
T |
C |
7: 139,925,162 (GRCm39) |
I247V |
probably benign |
Het |
| Or14a260 |
T |
A |
7: 85,984,885 (GRCm39) |
I240F |
probably benign |
Het |
| Or1e33 |
T |
A |
11: 73,738,697 (GRCm39) |
M85L |
probably benign |
Het |
| Or8k17 |
T |
C |
2: 86,066,504 (GRCm39) |
Y218C |
probably damaging |
Het |
| Or8w1 |
T |
A |
2: 87,465,233 (GRCm39) |
N286I |
probably damaging |
Het |
| Otof |
C |
T |
5: 30,537,538 (GRCm39) |
G1257D |
probably benign |
Het |
| Phf2 |
T |
C |
13: 48,971,236 (GRCm39) |
T479A |
probably benign |
Het |
| Pik3c2a |
T |
C |
7: 115,942,232 (GRCm39) |
N1516S |
probably benign |
Het |
| Qrich1 |
C |
A |
9: 108,433,236 (GRCm39) |
T622K |
probably damaging |
Het |
| Rasip1 |
A |
G |
7: 45,281,943 (GRCm39) |
K482R |
probably damaging |
Het |
| Scarb1 |
T |
C |
5: 125,380,201 (GRCm39) |
D124G |
probably benign |
Het |
| Sclt1 |
A |
G |
3: 41,625,917 (GRCm39) |
I350T |
probably benign |
Het |
| Sec23ip |
T |
G |
7: 128,369,364 (GRCm39) |
V696G |
probably damaging |
Het |
| Serpina1e |
G |
T |
12: 103,917,354 (GRCm39) |
T105K |
probably benign |
Het |
| Sin3a |
A |
G |
9: 57,020,828 (GRCm39) |
|
probably null |
Het |
| Slc34a2 |
A |
G |
5: 53,218,182 (GRCm39) |
T154A |
probably damaging |
Het |
| Slc9a3 |
T |
C |
13: 74,303,241 (GRCm39) |
L178P |
probably damaging |
Het |
| Smarca2 |
A |
C |
19: 26,659,448 (GRCm39) |
I913L |
probably benign |
Het |
| Spaca7b |
T |
A |
8: 11,715,056 (GRCm39) |
D46V |
probably damaging |
Het |
| Tcea3 |
G |
A |
4: 136,001,027 (GRCm39) |
|
probably null |
Het |
| Tektl1 |
G |
C |
10: 78,584,509 (GRCm39) |
Q338E |
probably benign |
Het |
| Tmcc1 |
T |
A |
6: 116,020,435 (GRCm39) |
H339L |
|
Het |
| Trpm2 |
G |
T |
10: 77,783,731 (GRCm39) |
H247Q |
probably damaging |
Het |
| Tyr |
T |
A |
7: 87,121,724 (GRCm39) |
D356V |
probably damaging |
Het |
| Vmn2r54 |
A |
T |
7: 12,349,888 (GRCm39) |
C565S |
probably damaging |
Het |
| Vmn2r82 |
A |
C |
10: 79,213,636 (GRCm39) |
N74T |
probably benign |
Het |
| Zcchc4 |
T |
C |
5: 52,973,260 (GRCm39) |
Y375H |
probably damaging |
Het |
| Zfhx3 |
T |
A |
8: 109,675,353 (GRCm39) |
D2134E |
possibly damaging |
Het |
| Zfhx4 |
T |
A |
3: 5,464,010 (GRCm39) |
Y1414* |
probably null |
Het |
| Zfp282 |
A |
T |
6: 47,867,626 (GRCm39) |
E267D |
possibly damaging |
Het |
| Zfp442 |
A |
T |
2: 150,251,096 (GRCm39) |
C269S |
possibly damaging |
Het |
| Zp3 |
T |
A |
5: 136,014,418 (GRCm39) |
S246T |
probably benign |
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 |
|
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 |
|
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'- ACGGGAAACAGGTCATCATG -3'
(R):5'- TCATGAGATGCACCATCCATG -3'
Sequencing Primer
(F):5'- TGGGTAGCCCTGTACATCCTAG -3'
(R):5'- CCATCCATGGCATAGAAGACGTTAG -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation