Incidental Mutation 'IGL00965:Rgl2'
| ID |
306608 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Rgl2
|
| Ensembl Gene |
ENSMUSG00000041354 |
| Gene Name |
ral guanine nucleotide dissociation stimulator-like 2 |
| Synonyms |
KE1.5, Rab2l, Rgt2, Rlf |
| Accession Numbers |
|
| Is this an essential gene? |
Probably non essential
(E-score: 0.114)
|
| Stock # |
IGL00965
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
33929543-33937687 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 33935936 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Phenylalanine
at position 638
(C638F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000041082
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025163]
[ENSMUST00000025170]
[ENSMUST00000047503]
[ENSMUST00000173363]
[ENSMUST00000174426]
[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: 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: C638F
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000041082
Gene: ENSMUSG00000041354
AA Change: C638F
| 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: ENSMUST00000173153
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173258
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173266
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000173284
AA Change: C190F
|
| SMART Domains |
Protein: ENSMUSP00000134312
Gene: ENSMUSG00000041354
AA Change: C190F
| 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: ENSMUST00000173379
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173502
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173678
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173718
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174676
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174442
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174410
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173857
|
| 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: 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 |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot8 |
C |
T |
2: 164,804,815 |
M1I |
probably null |
Het |
| Adam33 |
T |
C |
2: 131,054,263 |
|
probably benign |
Het |
| Adgrl1 |
C |
T |
8: 83,937,703 |
T1236I |
probably damaging |
Het |
| Ago4 |
A |
G |
4: 126,493,314 |
V832A |
probably benign |
Het |
| Ankrd26 |
G |
T |
6: 118,559,358 |
Y91* |
probably null |
Het |
| Atp9a |
C |
A |
2: 168,640,680 |
V845L |
probably benign |
Het |
| Cfap100 |
C |
T |
6: 90,415,805 |
E108K |
probably benign |
Het |
| Chrdl2 |
T |
A |
7: 100,006,653 |
|
probably null |
Het |
| Erbb4 |
A |
T |
1: 68,071,630 |
L1008* |
probably null |
Het |
| Fam92b |
T |
C |
8: 120,166,690 |
Q254R |
probably benign |
Het |
| Gm42688 |
C |
T |
6: 83,103,392 |
|
probably benign |
Het |
| H2-Eb2 |
T |
A |
17: 34,325,797 |
|
probably null |
Het |
| Hmcn2 |
T |
C |
2: 31,343,096 |
V219A |
probably damaging |
Het |
| Hsf2 |
C |
T |
10: 57,512,100 |
P447S |
probably damaging |
Het |
| Hsph1 |
A |
T |
5: 149,630,804 |
I162N |
probably damaging |
Het |
| Ick |
A |
G |
9: 78,164,539 |
I498V |
probably benign |
Het |
| Il12rb2 |
T |
C |
6: 67,360,577 |
T107A |
probably damaging |
Het |
| Lnx1 |
T |
A |
5: 74,685,717 |
N24I |
probably benign |
Het |
| Mgat3 |
C |
A |
15: 80,212,433 |
A487D |
probably damaging |
Het |
| Olfr1416 |
T |
C |
1: 92,480,024 |
D199G |
probably damaging |
Het |
| Olfr1564 |
C |
T |
17: 33,215,973 |
V124M |
probably benign |
Het |
| Olfr629 |
T |
A |
7: 103,740,965 |
I92F |
probably benign |
Het |
| Olfr808 |
T |
A |
10: 129,767,586 |
L30Q |
probably null |
Het |
| Ppargc1b |
A |
G |
18: 61,323,164 |
Y75H |
probably damaging |
Het |
| Rhpn1 |
C |
A |
15: 75,711,886 |
R407S |
probably damaging |
Het |
| Sipa1l2 |
A |
G |
8: 125,447,874 |
S1222P |
probably benign |
Het |
| Tango6 |
T |
A |
8: 106,742,010 |
|
probably benign |
Het |
| Tonsl |
G |
A |
15: 76,631,880 |
|
probably benign |
Het |
| Vmn1r77 |
G |
A |
7: 12,041,296 |
|
probably null |
Het |
| Vmn2r13 |
A |
C |
5: 109,156,098 |
F822L |
probably damaging |
Het |
|
| Other mutations in Rgl2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00514:Rgl2
|
APN |
17 |
33933136 |
missense |
probably benign |
0.31 |
|
IGL00898:Rgl2
|
APN |
17 |
33933418 |
missense |
possibly damaging |
0.95 |
|
IGL00985:Rgl2
|
APN |
17 |
33932101 |
missense |
probably damaging |
1.00 |
|
IGL02140:Rgl2
|
APN |
17 |
33933124 |
missense |
probably damaging |
1.00 |
|
IGL02214:Rgl2
|
APN |
17 |
33935189 |
missense |
probably benign |
0.06 |
|
IGL02486:Rgl2
|
APN |
17 |
33935980 |
missense |
probably damaging |
0.97 |
|
IGL02579:Rgl2
|
APN |
17 |
33937160 |
missense |
probably benign |
0.08 |
|
IGL02976:Rgl2
|
APN |
17 |
33933962 |
missense |
possibly damaging |
0.95 |
|
Hypotenuse
|
UTSW |
17 |
33931739 |
missense |
probably benign |
0.00 |
|
Pedernales
|
UTSW |
17 |
33932038 |
critical splice acceptor site |
probably null |
|
|
PIT4354001:Rgl2
|
UTSW |
17 |
33933940 |
missense |
possibly damaging |
0.80 |
|
R0347:Rgl2
|
UTSW |
17 |
33932738 |
missense |
probably damaging |
1.00 |
|
R0456:Rgl2
|
UTSW |
17 |
33936849 |
splice site |
probably null |
|
|
R0825:Rgl2
|
UTSW |
17 |
33935159 |
splice site |
probably null |
|
|
R1742:Rgl2
|
UTSW |
17 |
33937223 |
splice site |
probably null |
|
|
R1777:Rgl2
|
UTSW |
17 |
33931744 |
missense |
probably benign |
0.00 |
|
R1829:Rgl2
|
UTSW |
17 |
33933621 |
missense |
probably benign |
0.00 |
|
R1908:Rgl2
|
UTSW |
17 |
33932148 |
missense |
probably benign |
0.00 |
|
R1961:Rgl2
|
UTSW |
17 |
33933615 |
missense |
probably damaging |
1.00 |
|
R2102:Rgl2
|
UTSW |
17 |
33933340 |
splice site |
probably null |
|
|
R3001:Rgl2
|
UTSW |
17 |
33932605 |
missense |
probably benign |
0.00 |
|
R3002:Rgl2
|
UTSW |
17 |
33932605 |
missense |
probably benign |
0.00 |
|
R3755:Rgl2
|
UTSW |
17 |
33932597 |
missense |
probably benign |
0.01 |
|
R3756:Rgl2
|
UTSW |
17 |
33932597 |
missense |
probably benign |
0.01 |
|
R3978:Rgl2
|
UTSW |
17 |
33935162 |
missense |
probably benign |
0.02 |
|
R4042:Rgl2
|
UTSW |
17 |
33937262 |
missense |
probably damaging |
1.00 |
|
R4064:Rgl2
|
UTSW |
17 |
33937108 |
missense |
possibly damaging |
0.77 |
|
R4204:Rgl2
|
UTSW |
17 |
33936932 |
missense |
probably benign |
0.04 |
|
R4661:Rgl2
|
UTSW |
17 |
33933226 |
missense |
possibly damaging |
0.77 |
|
R4852:Rgl2
|
UTSW |
17 |
33937173 |
missense |
probably benign |
0.00 |
|
R4922:Rgl2
|
UTSW |
17 |
33932775 |
unclassified |
probably benign |
|
|
R5119:Rgl2
|
UTSW |
17 |
33937120 |
missense |
probably benign |
0.00 |
|
R5167:Rgl2
|
UTSW |
17 |
33935974 |
nonsense |
probably null |
|
|
R5279:Rgl2
|
UTSW |
17 |
33935948 |
missense |
probably benign |
|
|
R5319:Rgl2
|
UTSW |
17 |
33933555 |
missense |
probably benign |
0.02 |
|
R5337:Rgl2
|
UTSW |
17 |
33934984 |
missense |
probably damaging |
0.99 |
|
R5881:Rgl2
|
UTSW |
17 |
33932717 |
missense |
probably benign |
0.01 |
|
R5945:Rgl2
|
UTSW |
17 |
33932038 |
critical splice acceptor site |
probably null |
|
|
R6165:Rgl2
|
UTSW |
17 |
33931765 |
missense |
probably benign |
0.01 |
|
R6358:Rgl2
|
UTSW |
17 |
33937131 |
splice site |
probably null |
|
|
R6867:Rgl2
|
UTSW |
17 |
33932687 |
missense |
probably benign |
0.09 |
|
R7174:Rgl2
|
UTSW |
17 |
33934990 |
missense |
possibly damaging |
0.93 |
|
R7182:Rgl2
|
UTSW |
17 |
33934990 |
missense |
possibly damaging |
0.93 |
|
R7183:Rgl2
|
UTSW |
17 |
33934990 |
missense |
possibly damaging |
0.93 |
|
R7184:Rgl2
|
UTSW |
17 |
33934990 |
missense |
possibly damaging |
0.93 |
|
R7196:Rgl2
|
UTSW |
17 |
33933429 |
missense |
probably damaging |
1.00 |
|
R7203:Rgl2
|
UTSW |
17 |
33933429 |
missense |
probably damaging |
1.00 |
|
R7250:Rgl2
|
UTSW |
17 |
33933429 |
missense |
probably damaging |
1.00 |
|
R7253:Rgl2
|
UTSW |
17 |
33934990 |
missense |
possibly damaging |
0.93 |
|
R7254:Rgl2
|
UTSW |
17 |
33934990 |
missense |
possibly damaging |
0.93 |
|
R7255:Rgl2
|
UTSW |
17 |
33934990 |
missense |
possibly damaging |
0.93 |
|
R7256:Rgl2
|
UTSW |
17 |
33934990 |
missense |
possibly damaging |
0.93 |
|
R7282:Rgl2
|
UTSW |
17 |
33933429 |
missense |
probably damaging |
1.00 |
|
R7455:Rgl2
|
UTSW |
17 |
33932683 |
missense |
probably benign |
0.32 |
|
R7513:Rgl2
|
UTSW |
17 |
33932555 |
missense |
probably benign |
|
|
R7752:Rgl2
|
UTSW |
17 |
33935825 |
missense |
possibly damaging |
0.82 |
|
R7901:Rgl2
|
UTSW |
17 |
33935825 |
missense |
possibly damaging |
0.82 |
|
R7941:Rgl2
|
UTSW |
17 |
33931739 |
missense |
probably benign |
0.00 |
|
R8158:Rgl2
|
UTSW |
17 |
33936944 |
missense |
probably benign |
0.27 |
|
R8209:Rgl2
|
UTSW |
17 |
33932527 |
missense |
possibly damaging |
0.91 |
|
R8226:Rgl2
|
UTSW |
17 |
33932527 |
missense |
possibly damaging |
0.91 |
|
R8405:Rgl2
|
UTSW |
17 |
33933724 |
nonsense |
probably null |
|
|
R8871:Rgl2
|
UTSW |
17 |
33935000 |
missense |
probably damaging |
1.00 |
|
R9205:Rgl2
|
UTSW |
17 |
33936028 |
missense |
probably damaging |
1.00 |
|
R9591:Rgl2
|
UTSW |
17 |
33932477 |
missense |
possibly damaging |
0.50 |
|
X0028:Rgl2
|
UTSW |
17 |
33932458 |
splice site |
probably null |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation