Incidental Mutation 'R1235:Rem1'
| ID |
152401 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rem1
|
| Ensembl Gene |
ENSMUSG00000000359 |
| Gene Name |
rad and gem related GTP binding protein 1 |
| Synonyms |
E030011C07Rik |
| MMRRC Submission |
039303-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.074)
|
| Stock # |
R1235 (G1)
|
| Quality Score |
102 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
152468928-152477111 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 152476455 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 238
(V238M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000000369
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000369]
|
| AlphaFold |
O35929 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000000369
AA Change: V238M
PolyPhen 2
Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000000369
Gene: ENSMUSG00000000359
AA Change: V238M
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
64 |
77 |
N/A |
INTRINSIC |
|
Pfam:Roc
|
82 |
198 |
1e-10 |
PFAM |
|
Pfam:Ras
|
82 |
244 |
2.6e-32 |
PFAM |
|
low complexity region
|
258 |
290 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139370
|
| Meta Mutation Damage Score |
0.2146 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.0%
- 10x: 95.3%
- 20x: 89.5%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a GTPase and member of the RAS-like GTP-binding protein family. The encoded protein is expressed in endothelial cells, where it promotes reorganization of the actin cytoskeleton and morphological changes in the cells. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 18 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arsg |
T |
C |
11: 109,424,933 (GRCm39) |
|
probably null |
Het |
| Col6a1 |
C |
A |
10: 76,548,158 (GRCm39) |
A633S |
unknown |
Het |
| Dnajb3 |
C |
T |
1: 88,133,201 (GRCm39) |
R67H |
probably benign |
Het |
| Fam53c |
T |
A |
18: 34,901,311 (GRCm39) |
L76Q |
probably damaging |
Het |
| Gys2 |
A |
T |
6: 142,376,019 (GRCm39) |
Y548N |
probably damaging |
Het |
| Kcnh3 |
T |
A |
15: 99,139,984 (GRCm39) |
|
probably null |
Het |
| Lrp2 |
C |
T |
2: 69,354,380 (GRCm39) |
V483I |
probably damaging |
Het |
| Myom3 |
A |
T |
4: 135,516,854 (GRCm39) |
Y808F |
probably benign |
Het |
| Nmur1 |
C |
T |
1: 86,314,415 (GRCm39) |
G307S |
probably damaging |
Het |
| Or8w1 |
T |
G |
2: 87,465,159 (GRCm39) |
|
probably null |
Het |
| Pcdhb13 |
T |
C |
18: 37,578,012 (GRCm39) |
*797Q |
probably null |
Het |
| Plcb4 |
G |
A |
2: 135,814,868 (GRCm39) |
G719R |
probably damaging |
Het |
| Pld1 |
A |
T |
3: 28,082,883 (GRCm39) |
T143S |
probably benign |
Het |
| Sema5a |
A |
T |
15: 32,609,372 (GRCm39) |
Y426F |
probably benign |
Het |
| Trpc7 |
G |
T |
13: 57,035,352 (GRCm39) |
H194N |
probably damaging |
Het |
| Vmn2r106 |
A |
T |
17: 20,499,741 (GRCm39) |
F165I |
probably benign |
Het |
| Zdbf2 |
A |
G |
1: 63,348,232 (GRCm39) |
T2204A |
possibly damaging |
Het |
| Zp2 |
A |
T |
7: 119,737,566 (GRCm39) |
F240I |
possibly damaging |
Het |
|
| Other mutations in Rem1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R1121:Rem1
|
UTSW |
2 |
152,476,455 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1122:Rem1
|
UTSW |
2 |
152,476,455 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1126:Rem1
|
UTSW |
2 |
152,476,455 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1233:Rem1
|
UTSW |
2 |
152,476,455 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1378:Rem1
|
UTSW |
2 |
152,476,455 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1709:Rem1
|
UTSW |
2 |
152,476,455 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1713:Rem1
|
UTSW |
2 |
152,476,455 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1911:Rem1
|
UTSW |
2 |
152,476,455 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1912:Rem1
|
UTSW |
2 |
152,476,455 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5442:Rem1
|
UTSW |
2 |
152,469,977 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R5853:Rem1
|
UTSW |
2 |
152,470,200 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6062:Rem1
|
UTSW |
2 |
152,470,017 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
R6072:Rem1
|
UTSW |
2 |
152,476,437 (GRCm39) |
missense |
probably benign |
|
|
R7215:Rem1
|
UTSW |
2 |
152,470,069 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7635:Rem1
|
UTSW |
2 |
152,476,585 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9276:Rem1
|
UTSW |
2 |
152,469,969 (GRCm39) |
splice site |
probably benign |
|
|
X0057:Rem1
|
UTSW |
2 |
152,471,111 (GRCm39) |
missense |
probably benign |
0.32 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCTTCCTGAGAGTTTGAACACA -3'
(R):5'- CTTTTCTCCTCAGTGGCACCATA -3'
Sequencing Primer
(F):5'- CATCTCTTCCCACCTTTATC -3'
(R):5'- ATAGTGTCCCATCACCCCAG -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation