Incidental Mutation 'PIT4354001:Rgl2'
ID |
554834 |
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 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.101)
|
Stock # |
PIT4354001 (G1)
|
Quality Score |
192.009 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
34148813-34156661 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 34152914 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 441
(M441K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000041082
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025161]
[ENSMUST00000025163]
[ENSMUST00000047503]
[ENSMUST00000173363]
[ENSMUST00000174048]
[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: ENSMUST00000025161
|
SMART Domains |
Protein: ENSMUSP00000025161 Gene: ENSMUSG00000024308
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
low complexity region
|
48 |
65 |
N/A |
INTRINSIC |
low complexity region
|
127 |
152 |
N/A |
INTRINSIC |
IG
|
168 |
292 |
3.45e0 |
SMART |
IG_like
|
302 |
406 |
4.78e1 |
SMART |
transmembrane domain
|
416 |
438 |
N/A |
INTRINSIC |
|
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: M441K
PolyPhen 2
Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000041082 Gene: ENSMUSG00000041354 AA Change: M441K
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: M5K
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: 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: 92.5%
- 3x: 90.1%
- 10x: 83.2%
- 20x: 69.0%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arap2 |
A |
T |
5: 62,811,392 (GRCm39) |
Y1140N |
probably damaging |
Het |
Ccdc83 |
A |
T |
7: 89,873,182 (GRCm39) |
M391K |
probably benign |
Het |
Cntnap1 |
A |
T |
11: 101,072,123 (GRCm39) |
I459F |
probably damaging |
Het |
Cr2 |
T |
A |
1: 194,848,617 (GRCm39) |
Y302F |
probably damaging |
Het |
Ctu2 |
A |
T |
8: 123,205,714 (GRCm39) |
D179V |
probably damaging |
Het |
Cubn |
G |
A |
2: 13,473,663 (GRCm39) |
Q427* |
probably null |
Het |
Depdc7 |
A |
G |
2: 104,558,533 (GRCm39) |
S163P |
probably benign |
Het |
Eif2s3y |
C |
T |
Y: 1,020,126 (GRCm39) |
R385C |
probably benign |
Het |
Gigyf1 |
A |
G |
5: 137,522,366 (GRCm39) |
K728R |
unknown |
Het |
Gm1587 |
G |
A |
14: 78,034,473 (GRCm39) |
R32* |
probably null |
Het |
Hjv |
T |
C |
3: 96,435,761 (GRCm39) |
C340R |
probably damaging |
Het |
Isy1 |
A |
G |
6: 87,810,653 (GRCm39) |
I53T |
possibly damaging |
Het |
Myh8 |
A |
T |
11: 67,180,456 (GRCm39) |
N564I |
probably benign |
Het |
Neb |
A |
T |
2: 52,135,330 (GRCm39) |
I3260N |
probably damaging |
Het |
Npc1 |
C |
T |
18: 12,344,592 (GRCm39) |
G426E |
probably benign |
Het |
Nrdc |
G |
A |
4: 108,911,222 (GRCm39) |
|
probably null |
Het |
Or2v1 |
G |
A |
11: 49,025,132 (GRCm39) |
V38M |
probably damaging |
Het |
Or4c10b |
T |
A |
2: 89,711,852 (GRCm39) |
S227R |
probably benign |
Het |
Or4c116 |
C |
A |
2: 88,942,830 (GRCm39) |
E9* |
probably null |
Het |
Pate8 |
T |
A |
9: 36,492,597 (GRCm39) |
S103C |
possibly damaging |
Het |
Prss51 |
T |
A |
14: 64,334,546 (GRCm39) |
V91D |
probably damaging |
Het |
Qpct |
A |
C |
17: 79,389,188 (GRCm39) |
Y280S |
probably benign |
Het |
Rbpms |
A |
G |
8: 34,296,866 (GRCm39) |
V137A |
possibly damaging |
Het |
Sdhaf3 |
A |
T |
6: 6,956,072 (GRCm39) |
I16F |
possibly damaging |
Het |
Slc38a3 |
T |
G |
9: 107,534,848 (GRCm39) |
N176H |
probably benign |
Het |
Sos1 |
T |
C |
17: 80,756,785 (GRCm39) |
S256G |
possibly damaging |
Het |
Spg11 |
A |
T |
2: 121,918,666 (GRCm39) |
C988S |
probably damaging |
Het |
Sync |
A |
T |
4: 129,200,447 (GRCm39) |
Q451L |
possibly damaging |
Het |
Tbc1d31 |
A |
G |
15: 57,831,329 (GRCm39) |
Y929C |
probably benign |
Het |
Thbs2 |
G |
A |
17: 14,910,230 (GRCm39) |
T123I |
probably damaging |
Het |
Thsd7a |
A |
C |
6: 12,331,926 (GRCm39) |
|
probably null |
Het |
Tnfrsf11a |
T |
C |
1: 105,749,242 (GRCm39) |
L220P |
probably damaging |
Het |
Trbv13-2 |
G |
A |
6: 41,098,752 (GRCm39) |
C109Y |
probably damaging |
Het |
Ugt3a1 |
G |
A |
15: 9,306,446 (GRCm39) |
W198* |
probably null |
Het |
Usp14 |
G |
A |
18: 9,996,189 (GRCm39) |
R464W |
probably damaging |
Het |
Vmn1r2 |
C |
T |
4: 3,172,162 (GRCm39) |
S27L |
probably benign |
Het |
Vmn1r68 |
T |
A |
7: 10,261,958 (GRCm39) |
N47Y |
probably benign |
Het |
Zfc3h1 |
T |
A |
10: 115,262,944 (GRCm39) |
Y1719* |
probably null |
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 |
|
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 |
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'- ACCTTGCTTTGTCACCAGGAAG -3'
(R):5'- ACATGTTGAGTCACCCAGGG -3'
Sequencing Primer
(F):5'- TCACCAGGAAGTGAAGCCGC -3'
(R):5'- TTGAGTCACCCAGGGCAGATC -3'
|
Posted On |
2019-06-07 |