Incidental Mutation 'R6358:Rgl2'
| ID |
513369 |
| 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 |
044508-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.136)
|
| Stock # |
R6358 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
34148813-34156661 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to A
at 34156105 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025170
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025163]
[ENSMUST00000025170]
[ENSMUST00000047503]
[ENSMUST00000173363]
[ENSMUST00000179418]
[ENSMUST00000174048]
[ENSMUST00000174426]
|
| 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: 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 damaging
Transcript: ENSMUST00000047503
AA Change: L731Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000041082
Gene: ENSMUSG00000041354
AA Change: L731Q
| 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 |
probably damaging
Transcript: ENSMUST00000173284
AA Change: L283Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000134312
Gene: ENSMUSG00000041354
AA Change: L283Q
| 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: ENSMUST00000174442
|
| 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 |
noncoding transcript
Transcript: ENSMUST00000173857
|
| 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 |
noncoding transcript
Transcript: ENSMUST00000173502
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173678
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173718
|
| 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 |
noncoding transcript
Transcript: ENSMUST00000173379
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.8%
|
| Validation Efficiency |
100% (61/61) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam39 |
T |
C |
8: 41,279,718 (GRCm39) |
V703A |
probably benign |
Het |
| Adgrv1 |
T |
A |
13: 81,562,702 (GRCm39) |
Q5389L |
probably damaging |
Het |
| Aldh18a1 |
A |
T |
19: 40,566,122 (GRCm39) |
I42N |
possibly damaging |
Het |
| Ankrd28 |
A |
C |
14: 31,432,821 (GRCm39) |
C575W |
probably damaging |
Het |
| Car14 |
T |
A |
3: 95,805,487 (GRCm39) |
T329S |
possibly damaging |
Het |
| Cdhr2 |
T |
C |
13: 54,884,359 (GRCm39) |
F1298S |
probably damaging |
Het |
| Crhr2 |
A |
G |
6: 55,070,028 (GRCm39) |
I341T |
probably benign |
Het |
| D5Ertd579e |
T |
A |
5: 36,773,580 (GRCm39) |
|
probably null |
Het |
| Eif1ad3 |
A |
G |
12: 87,843,770 (GRCm39) |
E139G |
unknown |
Het |
| Emilin1 |
A |
G |
5: 31,075,562 (GRCm39) |
E601G |
probably damaging |
Het |
| Erbin |
T |
A |
13: 103,982,073 (GRCm39) |
Q456L |
probably damaging |
Het |
| Glp1r |
T |
C |
17: 31,151,618 (GRCm39) |
V405A |
probably benign |
Het |
| Gm10220 |
C |
G |
5: 26,325,303 (GRCm39) |
|
probably null |
Het |
| Gm527 |
A |
T |
12: 64,970,322 (GRCm39) |
H219L |
possibly damaging |
Het |
| Gorasp2 |
T |
A |
2: 70,503,104 (GRCm39) |
M1K |
probably null |
Het |
| H2-DMa |
T |
A |
17: 34,356,958 (GRCm39) |
L152H |
probably damaging |
Het |
| Hsd3b7 |
T |
A |
7: 127,400,709 (GRCm39) |
H54Q |
probably damaging |
Het |
| Hspa12b |
T |
C |
2: 130,978,986 (GRCm39) |
|
probably benign |
Het |
| Iars1 |
C |
A |
13: 49,880,619 (GRCm39) |
T1006K |
possibly damaging |
Het |
| Jmjd1c |
T |
C |
10: 67,061,718 (GRCm39) |
V1357A |
probably benign |
Het |
| Magi3 |
T |
C |
3: 103,958,268 (GRCm39) |
M606V |
probably damaging |
Het |
| Mia |
T |
C |
7: 26,880,403 (GRCm39) |
D24G |
probably benign |
Het |
| Mon2 |
A |
T |
10: 122,849,409 (GRCm39) |
L1297Q |
probably damaging |
Het |
| Musk |
T |
A |
4: 58,373,171 (GRCm39) |
S691T |
possibly damaging |
Het |
| Myo5c |
A |
T |
9: 75,203,294 (GRCm39) |
E1463D |
possibly damaging |
Het |
| Ndufs6 |
C |
T |
13: 73,468,438 (GRCm39) |
G87D |
probably damaging |
Het |
| Npnt |
C |
T |
3: 132,610,479 (GRCm39) |
V415I |
probably benign |
Het |
| Ntsr2 |
A |
G |
12: 16,706,769 (GRCm39) |
I266V |
probably benign |
Het |
| Or11j4 |
A |
T |
14: 50,630,845 (GRCm39) |
I211F |
possibly damaging |
Het |
| Or5aq7 |
T |
C |
2: 86,938,778 (GRCm39) |
|
probably benign |
Het |
| Pkmyt1 |
T |
A |
17: 23,952,630 (GRCm39) |
|
probably null |
Het |
| Polr1e |
T |
C |
4: 45,026,813 (GRCm39) |
L166P |
probably damaging |
Het |
| Ppib |
T |
G |
9: 65,968,756 (GRCm39) |
F48C |
probably damaging |
Het |
| Ppl |
C |
A |
16: 4,905,793 (GRCm39) |
E1501* |
probably null |
Het |
| Prpf8 |
T |
C |
11: 75,382,321 (GRCm39) |
V384A |
probably benign |
Het |
| Ptch1 |
T |
G |
13: 63,661,503 (GRCm39) |
S1212R |
probably damaging |
Het |
| Ralb |
C |
A |
1: 119,403,735 (GRCm39) |
D131Y |
probably damaging |
Het |
| Rfx4 |
T |
A |
10: 84,680,099 (GRCm39) |
M141K |
probably damaging |
Het |
| Rpl27 |
A |
G |
11: 101,334,782 (GRCm39) |
|
probably benign |
Het |
| Sdc1 |
A |
C |
12: 8,841,297 (GRCm39) |
T213P |
probably damaging |
Het |
| Setx |
T |
A |
2: 29,061,360 (GRCm39) |
N2256K |
possibly damaging |
Het |
| Shank2 |
A |
G |
7: 143,585,034 (GRCm39) |
M12V |
probably benign |
Het |
| Slc22a28 |
T |
A |
19: 8,049,253 (GRCm39) |
K332M |
probably damaging |
Het |
| Slf2 |
A |
T |
19: 44,923,864 (GRCm39) |
H226L |
probably benign |
Het |
| Tbc1d10b |
T |
C |
7: 126,802,584 (GRCm39) |
S362G |
probably benign |
Het |
| Tbxas1 |
G |
A |
6: 38,929,046 (GRCm39) |
|
probably benign |
Het |
| Tctn1 |
A |
G |
5: 122,399,575 (GRCm39) |
V83A |
probably damaging |
Het |
| Tgm4 |
A |
G |
9: 122,885,583 (GRCm39) |
E375G |
probably damaging |
Het |
| Tmeff2 |
T |
A |
1: 51,172,273 (GRCm39) |
Y247* |
probably null |
Het |
| Tmem167b |
C |
T |
3: 108,466,211 (GRCm39) |
R79H |
possibly damaging |
Het |
| Tmprss7 |
T |
G |
16: 45,489,936 (GRCm39) |
M429L |
probably benign |
Het |
| Tnfsf18 |
T |
A |
1: 161,331,148 (GRCm39) |
D99E |
probably benign |
Het |
| Tnrc18 |
A |
T |
5: 142,713,736 (GRCm39) |
S2534T |
probably damaging |
Het |
| Tnxb |
A |
G |
17: 34,897,968 (GRCm39) |
E872G |
probably damaging |
Het |
| Tomm40l |
C |
T |
1: 171,047,206 (GRCm39) |
V237I |
possibly damaging |
Het |
| Trbv2 |
A |
G |
6: 41,024,836 (GRCm39) |
Q84R |
probably benign |
Het |
| Tspan18 |
T |
C |
2: 93,040,219 (GRCm39) |
R179G |
probably benign |
Het |
| Tspan8 |
G |
T |
10: 115,669,132 (GRCm39) |
V56L |
probably benign |
Het |
| Zbtb22 |
T |
C |
17: 34,137,711 (GRCm39) |
S619P |
probably damaging |
Het |
| Zfp2 |
A |
T |
11: 50,791,428 (GRCm39) |
I205N |
probably damaging |
Het |
| Zfpm1 |
A |
G |
8: 123,063,850 (GRCm39) |
|
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 |
|
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'- CAATCGTGATTCTGCTGTGGC -3'
(R):5'- TCACTCCTGGTATGAGTTGCTATG -3'
Sequencing Primer
(F):5'- CAGAGTTCGAGCTGGTGCAG -3'
(R):5'- CCTGGTATGAGTTGCTATGTAAACC -3'
|
| Posted On |
2018-04-27 |
Incidental Mutation