Incidental Mutation 'R7254:Rgl2'
| ID |
564163 |
| 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 |
045315-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.136)
|
| Stock # |
R7254 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
34148813-34156661 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 34153964 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 457
(F457L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000041082
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025163]
[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 |
possibly damaging
Transcript: ENSMUST00000047503
AA Change: F457L
PolyPhen 2
Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000041082
Gene: ENSMUSG00000041354
AA Change: F457L
| 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: F21L
| 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 |
|
| Meta Mutation Damage Score |
0.8096 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
98% (59/60) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4931406B18Rik |
A |
T |
7: 43,147,623 (GRCm39) |
D249E |
probably damaging |
Het |
| Acacb |
A |
C |
5: 114,347,812 (GRCm39) |
|
probably null |
Het |
| Adnp |
A |
G |
2: 168,025,918 (GRCm39) |
V459A |
probably damaging |
Het |
| Arid3b |
T |
C |
9: 57,704,037 (GRCm39) |
K304E |
probably damaging |
Het |
| Ash1l |
G |
T |
3: 88,977,816 (GRCm39) |
R2713L |
probably damaging |
Het |
| Bmpr1a |
A |
C |
14: 34,136,720 (GRCm39) |
D490E |
probably benign |
Het |
| Cacna1g |
A |
T |
11: 94,323,393 (GRCm39) |
C1270* |
probably null |
Het |
| Cep295nl |
G |
T |
11: 118,223,866 (GRCm39) |
P326Q |
probably damaging |
Het |
| Cfap100 |
T |
C |
6: 90,383,043 (GRCm39) |
I377V |
unknown |
Het |
| Creb1 |
C |
T |
1: 64,615,436 (GRCm39) |
Q223* |
probably null |
Het |
| Ctsc |
G |
A |
7: 87,958,767 (GRCm39) |
G349D |
probably damaging |
Het |
| Ddx41 |
G |
A |
13: 55,681,769 (GRCm39) |
R311* |
probably null |
Het |
| Dpcd |
A |
G |
19: 45,565,473 (GRCm39) |
Q149R |
probably benign |
Het |
| Dse |
T |
A |
10: 34,060,144 (GRCm39) |
|
probably benign |
Het |
| Dync2i1 |
A |
G |
12: 116,226,205 (GRCm39) |
|
probably benign |
Het |
| Eef2k |
C |
T |
7: 120,488,488 (GRCm39) |
H458Y |
probably benign |
Het |
| Gipr |
A |
T |
7: 18,897,538 (GRCm39) |
V90E |
probably damaging |
Het |
| Gm14412 |
A |
T |
2: 177,009,189 (GRCm39) |
D22E |
probably damaging |
Het |
| Gm21886 |
A |
T |
18: 80,132,950 (GRCm39) |
C69* |
probably null |
Het |
| Gm5114 |
G |
A |
7: 39,058,390 (GRCm39) |
L410F |
probably benign |
Het |
| Gmip |
T |
A |
8: 70,269,118 (GRCm39) |
|
probably null |
Het |
| Gtf2f1 |
T |
C |
17: 57,314,101 (GRCm39) |
T128A |
possibly damaging |
Het |
| Hnrnpr |
A |
G |
4: 136,059,886 (GRCm39) |
E330G |
possibly damaging |
Het |
| Hoxd9 |
T |
A |
2: 74,528,718 (GRCm39) |
W107R |
probably damaging |
Het |
| Iars1 |
T |
C |
13: 49,876,554 (GRCm39) |
|
probably null |
Het |
| Idh2 |
TCCCAGGGCC |
TCC |
7: 79,748,079 (GRCm39) |
|
probably null |
Het |
| Ifi213 |
G |
T |
1: 173,421,529 (GRCm39) |
P120Q |
probably damaging |
Het |
| Il6 |
A |
T |
5: 30,219,906 (GRCm39) |
Q94L |
probably benign |
Het |
| Kcnab1 |
A |
G |
3: 65,226,908 (GRCm39) |
S196G |
probably benign |
Het |
| Kcnv1 |
C |
T |
15: 44,976,604 (GRCm39) |
V228I |
probably benign |
Het |
| Lars2 |
A |
G |
9: 123,284,028 (GRCm39) |
T739A |
possibly damaging |
Het |
| Med13 |
T |
C |
11: 86,210,661 (GRCm39) |
S494G |
probably benign |
Het |
| Mtrf1 |
GCCTTC |
GC |
14: 79,660,931 (GRCm39) |
|
probably null |
Het |
| Myh9 |
T |
G |
15: 77,650,024 (GRCm39) |
Q1646P |
probably damaging |
Het |
| Nif3l1 |
T |
A |
1: 58,489,625 (GRCm39) |
S171R |
probably benign |
Het |
| Or13n4 |
A |
G |
7: 106,422,777 (GRCm39) |
*319Q |
probably null |
Het |
| Or1e1c |
A |
G |
11: 73,266,201 (GRCm39) |
I212V |
probably benign |
Het |
| Or1r1 |
A |
G |
11: 73,874,603 (GRCm39) |
V277A |
probably benign |
Het |
| Or51f23 |
A |
G |
7: 102,452,765 (GRCm39) |
T27A |
probably benign |
Het |
| Or5b113 |
A |
T |
19: 13,342,475 (GRCm39) |
D161V |
probably benign |
Het |
| Or6c5b |
T |
C |
10: 129,245,649 (GRCm39) |
V138A |
probably benign |
Het |
| Or8c8 |
T |
C |
9: 38,164,719 (GRCm39) |
M2T |
probably benign |
Het |
| Pak5 |
A |
T |
2: 135,958,684 (GRCm39) |
S135T |
possibly damaging |
Het |
| Prr29 |
A |
T |
11: 106,265,684 (GRCm39) |
M1L |
probably damaging |
Het |
| Ptpn13 |
T |
A |
5: 103,742,502 (GRCm39) |
V2407E |
probably damaging |
Het |
| Ralgapa1 |
T |
A |
12: 55,741,978 (GRCm39) |
H1310L |
probably damaging |
Het |
| Raph1 |
T |
C |
1: 60,538,767 (GRCm39) |
S393G |
unknown |
Het |
| Ror2 |
A |
G |
13: 53,272,756 (GRCm39) |
I303T |
possibly damaging |
Het |
| Runx2 |
G |
A |
17: 45,125,079 (GRCm39) |
P80L |
probably damaging |
Het |
| Scn10a |
C |
T |
9: 119,447,921 (GRCm39) |
D1378N |
probably damaging |
Het |
| Serpinc1 |
T |
A |
1: 160,821,188 (GRCm39) |
C91S |
probably benign |
Het |
| Sorbs1 |
G |
C |
19: 40,365,244 (GRCm39) |
R180G |
probably benign |
Het |
| Spata31d1e |
T |
C |
13: 59,889,790 (GRCm39) |
I677V |
probably benign |
Het |
| Tada1 |
T |
A |
1: 166,216,217 (GRCm39) |
C139* |
probably null |
Het |
| Tbr1 |
T |
A |
2: 61,636,386 (GRCm39) |
V254E |
probably damaging |
Het |
| Timd4 |
A |
T |
11: 46,734,016 (GRCm39) |
I340F |
probably benign |
Het |
| Tubb2a |
T |
C |
13: 34,258,515 (GRCm39) |
Y425C |
probably damaging |
Het |
| Zfp292 |
A |
T |
4: 34,819,476 (GRCm39) |
M287K |
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 |
|
|
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 |
|
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'- CTGAGTGTCAAGTGGAGCTG -3'
(R):5'- ACATTCTTTCTGGAGGCGC -3'
Sequencing Primer
(F):5'- GCTACACAGTGAGTCCCAGTCTC -3'
(R):5'- CATTCTTTCTGGAGGCGCAACAG -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation