Incidental Mutation 'IGL02368:Rragc'
| ID |
290811 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Rragc
|
| Ensembl Gene |
ENSMUSG00000028646 |
| Gene Name |
Ras-related GTP binding C |
| Synonyms |
YGR163W, TIB929, Gtr2 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.371)
|
| Stock # |
IGL02368
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
123811239-123830790 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 123814904 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 200
(D200G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030399
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030399]
[ENSMUST00000155757]
[ENSMUST00000181410]
|
| AlphaFold |
Q99K70 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030399
AA Change: D200G
PolyPhen 2
Score 0.114 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000030399
Gene: ENSMUSG00000028646
AA Change: D200G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Arf
|
55 |
234 |
5.1e-7 |
PFAM |
|
Pfam:SRPRB
|
58 |
154 |
9.8e-7 |
PFAM |
|
Pfam:Gtr1_RagA
|
62 |
288 |
2.1e-75 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133445
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143635
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153814
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155454
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155757
|
| SMART Domains |
Protein: ENSMUSP00000115232
Gene: ENSMUSG00000028646
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Arf
|
55 |
157 |
1.7e-6 |
PFAM |
|
Pfam:SRPRB
|
58 |
156 |
6.3e-8 |
PFAM |
|
Pfam:Gtr1_RagA
|
62 |
178 |
1.5e-30 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000181410
|
| SMART Domains |
Protein: ENSMUSP00000137693
Gene: ENSMUSG00000096969
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
54 |
83 |
N/A |
INTRINSIC |
|
low complexity region
|
105 |
123 |
N/A |
INTRINSIC |
|
low complexity region
|
164 |
172 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the GTR/RAG GTP-binding protein family. The encoded protein is a monomeric guanine nucleotide-binding protein which forms a heterodimer with RRAGA and RRAGB and is primarily localized to the cytoplasm. The encoded protein promotes intracellular localization of the mTOR complex. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930546C10Rik |
A |
G |
18: 69,083,060 (GRCm39) |
|
probably benign |
Het |
| Abca17 |
C |
A |
17: 24,506,767 (GRCm39) |
V1196L |
probably benign |
Het |
| Aldh4a1 |
G |
A |
4: 139,375,511 (GRCm39) |
W540* |
probably null |
Het |
| Antxr2 |
G |
A |
5: 98,097,057 (GRCm39) |
P352L |
probably damaging |
Het |
| Atic |
C |
T |
1: 71,603,724 (GRCm39) |
|
probably benign |
Het |
| Cfhr1 |
A |
G |
1: 139,475,551 (GRCm39) |
|
probably benign |
Het |
| Clspn |
T |
C |
4: 126,459,900 (GRCm39) |
S207P |
probably benign |
Het |
| Depdc1b |
A |
C |
13: 108,500,113 (GRCm39) |
T209P |
probably benign |
Het |
| Exosc3 |
A |
G |
4: 45,319,671 (GRCm39) |
I117T |
probably damaging |
Het |
| Eya2 |
T |
A |
2: 165,605,638 (GRCm39) |
D347E |
probably damaging |
Het |
| Gm10748 |
G |
T |
3: 5,280,061 (GRCm39) |
|
probably benign |
Het |
| Gm17079 |
T |
C |
14: 51,930,524 (GRCm39) |
N107S |
possibly damaging |
Het |
| Gpr68 |
A |
G |
12: 100,845,026 (GRCm39) |
F173L |
probably damaging |
Het |
| Hgf |
G |
T |
5: 16,769,792 (GRCm39) |
V89F |
possibly damaging |
Het |
| Igsf10 |
A |
T |
3: 59,235,652 (GRCm39) |
S1510T |
probably benign |
Het |
| Il4 |
A |
T |
11: 53,503,463 (GRCm39) |
N22K |
probably damaging |
Het |
| Izumo2 |
T |
G |
7: 44,358,261 (GRCm39) |
L32R |
probably damaging |
Het |
| Mark2 |
A |
G |
19: 7,261,855 (GRCm39) |
L359P |
probably damaging |
Het |
| Myo15b |
A |
G |
11: 115,767,828 (GRCm39) |
K1376R |
probably benign |
Het |
| Ncam1 |
G |
A |
9: 49,454,383 (GRCm39) |
R543* |
probably null |
Het |
| Pax2 |
A |
G |
19: 44,823,848 (GRCm39) |
N347S |
possibly damaging |
Het |
| Ppargc1a |
A |
G |
5: 51,631,498 (GRCm39) |
L377P |
probably benign |
Het |
| Pum3 |
A |
G |
19: 27,403,357 (GRCm39) |
V48A |
probably benign |
Het |
| Rad1 |
T |
C |
15: 10,493,337 (GRCm39) |
Y255H |
probably benign |
Het |
| Rimbp2 |
C |
T |
5: 128,865,218 (GRCm39) |
|
probably null |
Het |
| Rpn2 |
A |
G |
2: 157,144,328 (GRCm39) |
N330S |
probably benign |
Het |
| Rptn |
A |
G |
3: 93,304,478 (GRCm39) |
S604G |
probably benign |
Het |
| Slco4a1 |
T |
G |
2: 180,114,921 (GRCm39) |
F615V |
probably damaging |
Het |
| Snx2 |
T |
C |
18: 53,322,793 (GRCm39) |
S59P |
probably benign |
Het |
| Timp4 |
A |
T |
6: 115,223,360 (GRCm39) |
|
probably null |
Het |
| Tln2 |
A |
G |
9: 67,148,092 (GRCm39) |
|
probably benign |
Het |
| Txnrd1 |
C |
A |
10: 82,731,808 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Rragc |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00918:Rragc
|
APN |
4 |
123,813,636 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01067:Rragc
|
APN |
4 |
123,823,761 (GRCm39) |
missense |
probably benign |
0.12 |
|
IGL01843:Rragc
|
APN |
4 |
123,814,852 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02302:Rragc
|
APN |
4 |
123,814,879 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R0740:Rragc
|
UTSW |
4 |
123,818,556 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0988:Rragc
|
UTSW |
4 |
123,818,575 (GRCm39) |
splice site |
probably null |
|
|
R4620:Rragc
|
UTSW |
4 |
123,818,622 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5169:Rragc
|
UTSW |
4 |
123,829,457 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5727:Rragc
|
UTSW |
4 |
123,813,828 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R5729:Rragc
|
UTSW |
4 |
123,818,645 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R5959:Rragc
|
UTSW |
4 |
123,817,767 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6197:Rragc
|
UTSW |
4 |
123,811,340 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7860:Rragc
|
UTSW |
4 |
123,823,717 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8008:Rragc
|
UTSW |
4 |
123,829,340 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9748:Rragc
|
UTSW |
4 |
123,818,658 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
| Posted On |
2015-04-16 |
Incidental Mutation