Incidental Mutation 'R0825:Rgl2'
| ID |
78202 |
| 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 |
039005-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.136)
|
| Stock # |
R0825 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
34148813-34156661 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to A
at 34154133 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025163]
[ENSMUST00000047503]
[ENSMUST00000174426]
[ENSMUST00000173363]
[ENSMUST00000174048]
[ENSMUST00000179418]
|
| AlphaFold |
Q61193 |
| 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 null
Transcript: ENSMUST00000047503
AA Change: L471*
|
| SMART Domains |
Protein: ENSMUSP00000041082
Gene: ENSMUSG00000041354
AA Change: L471*
| 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: ENSMUST00000173153
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173258
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173266
|
| Predicted Effect |
probably null
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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173718
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173379
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174676
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174442
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173502
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174410
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173678
|
| 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: 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: ENSMUST00000179418
|
| SMART Domains |
Protein: ENSMUSP00000137072
Gene: ENSMUSG00000024309
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Prefoldin_2
|
10 |
115 |
2e-28 |
PFAM |
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.5%
- 10x: 96.4%
- 20x: 91.4%
|
| Validation Efficiency |
98% (46/47) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca3 |
T |
A |
17: 24,619,551 (GRCm39) |
I963N |
probably damaging |
Het |
| Aox4 |
A |
G |
1: 58,288,068 (GRCm39) |
D727G |
possibly damaging |
Het |
| Arhgef26 |
T |
A |
3: 62,334,014 (GRCm39) |
I590N |
probably damaging |
Het |
| Arid1b |
T |
G |
17: 5,392,453 (GRCm39) |
C1994W |
probably damaging |
Het |
| Chd9 |
T |
C |
8: 91,777,825 (GRCm39) |
I2628T |
probably benign |
Het |
| Clspn |
G |
A |
4: 126,466,923 (GRCm39) |
|
probably benign |
Het |
| Cyp2a4 |
A |
T |
7: 26,012,341 (GRCm39) |
T375S |
probably benign |
Het |
| Dmtf1 |
A |
T |
5: 9,180,388 (GRCm39) |
M226K |
probably damaging |
Het |
| Erap1 |
T |
C |
13: 74,822,733 (GRCm39) |
|
probably benign |
Het |
| Frmpd1 |
A |
G |
4: 45,285,394 (GRCm39) |
D1405G |
possibly damaging |
Het |
| Gfm2 |
A |
T |
13: 97,279,612 (GRCm39) |
|
probably benign |
Het |
| Ghsr |
T |
C |
3: 27,428,776 (GRCm39) |
V267A |
probably damaging |
Het |
| Golga2 |
A |
C |
2: 32,194,803 (GRCm39) |
Q650P |
probably damaging |
Het |
| Hmgcl |
A |
G |
4: 135,687,381 (GRCm39) |
T219A |
probably benign |
Het |
| Ift27 |
C |
A |
15: 78,049,336 (GRCm39) |
|
probably benign |
Het |
| Igfn1 |
C |
T |
1: 135,890,864 (GRCm39) |
E2379K |
probably damaging |
Het |
| Iqca1 |
C |
A |
1: 90,070,453 (GRCm39) |
G133V |
probably null |
Het |
| Kpnb1 |
A |
T |
11: 97,062,501 (GRCm39) |
S421R |
probably damaging |
Het |
| Minar1 |
G |
A |
9: 89,485,332 (GRCm39) |
Q22* |
probably null |
Het |
| Mtx3 |
C |
A |
13: 92,986,849 (GRCm39) |
T264K |
probably damaging |
Het |
| Nrg3 |
G |
A |
14: 39,194,348 (GRCm39) |
P137L |
possibly damaging |
Het |
| Nt5c2 |
A |
G |
19: 46,887,344 (GRCm39) |
|
probably benign |
Het |
| Or2y1e |
T |
A |
11: 49,218,509 (GRCm39) |
H90Q |
probably benign |
Het |
| Or5ac17 |
G |
T |
16: 59,036,813 (GRCm39) |
H54Q |
possibly damaging |
Het |
| Pcdhb2 |
G |
A |
18: 37,428,710 (GRCm39) |
V228I |
possibly damaging |
Het |
| Pdcd5 |
G |
A |
7: 35,346,338 (GRCm39) |
R91W |
possibly damaging |
Het |
| Pxdn |
G |
A |
12: 30,034,995 (GRCm39) |
|
probably benign |
Het |
| Rnf217 |
T |
C |
10: 31,393,453 (GRCm39) |
D376G |
probably damaging |
Het |
| Septin9 |
C |
T |
11: 117,250,286 (GRCm39) |
L519F |
probably damaging |
Het |
| Slc15a5 |
C |
T |
6: 137,995,087 (GRCm39) |
C386Y |
possibly damaging |
Het |
| Srrm4 |
T |
A |
5: 116,591,772 (GRCm39) |
I256F |
unknown |
Het |
| Stab1 |
G |
T |
14: 30,874,557 (GRCm39) |
D950E |
probably benign |
Het |
| Stim2 |
A |
G |
5: 54,275,825 (GRCm39) |
T667A |
probably benign |
Het |
| Strbp |
A |
T |
2: 37,525,539 (GRCm39) |
N144K |
probably benign |
Het |
| Sync |
A |
G |
4: 129,187,190 (GRCm39) |
Y74C |
probably benign |
Het |
| Terb1 |
A |
T |
8: 105,195,380 (GRCm39) |
M587K |
possibly damaging |
Het |
| Tgfbi |
T |
C |
13: 56,786,523 (GRCm39) |
|
probably benign |
Het |
| Tmf1 |
A |
T |
6: 97,152,956 (GRCm39) |
N372K |
probably benign |
Het |
| Ubr4 |
G |
T |
4: 139,206,887 (GRCm39) |
|
probably null |
Het |
| Uggt1 |
A |
T |
1: 36,197,224 (GRCm39) |
N1226K |
probably benign |
Het |
| Ugt2b34 |
T |
C |
5: 87,054,560 (GRCm39) |
I74V |
possibly damaging |
Het |
| Wdfy3 |
A |
G |
5: 102,017,917 (GRCm39) |
L2541P |
probably damaging |
Het |
| Zfhx3 |
T |
G |
8: 109,675,840 (GRCm39) |
F2297V |
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 |
|
|
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 |
|
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'- ACTGCCCTTGCAGAATGGCTAC -3'
(R):5'- TCACAGGATACACGGTGACTGGAC -3'
Sequencing Primer
(F):5'- CTACATCAATTTTGACAAGCGGAGG -3'
(R):5'- GTGACTGGACAGGATAGCC -3'
|
| Posted On |
2013-10-16 |
Incidental Mutation