Incidental Mutation 'R1233:Rem1'
| ID |
152339 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rem1
|
| Ensembl Gene |
ENSMUSG00000000359 |
| Gene Name |
rad and gem related GTP binding protein 1 |
| Synonyms |
E030011C07Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.074)
|
| Stock # |
R1233 (G1)
|
| Quality Score |
129 |
|
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: 99.2%
- 3x: 98.3%
- 10x: 95.9%
- 20x: 90.9%
|
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ache |
A |
G |
5: 137,288,419 (GRCm39) |
|
probably null |
Het |
| Aopep |
T |
A |
13: 63,347,334 (GRCm39) |
M631K |
probably damaging |
Het |
| Arfgef1 |
T |
C |
1: 10,254,315 (GRCm39) |
D773G |
probably damaging |
Het |
| Arhgap45 |
T |
C |
10: 79,863,416 (GRCm39) |
I753T |
probably damaging |
Het |
| Cd274 |
T |
A |
19: 29,351,301 (GRCm39) |
|
probably null |
Het |
| Cdh16 |
C |
T |
8: 105,345,114 (GRCm39) |
A392T |
possibly damaging |
Het |
| Csmd3 |
T |
C |
15: 48,536,927 (GRCm39) |
T92A |
probably damaging |
Het |
| Exosc8 |
A |
T |
3: 54,639,419 (GRCm39) |
C129S |
probably benign |
Het |
| Fat3 |
T |
G |
9: 15,834,041 (GRCm39) |
I4184L |
probably benign |
Het |
| Frem2 |
A |
G |
3: 53,455,199 (GRCm39) |
Y2126H |
probably damaging |
Het |
| Fsbp |
T |
C |
4: 11,580,053 (GRCm39) |
M107T |
possibly damaging |
Het |
| Gper1 |
A |
G |
5: 139,412,357 (GRCm39) |
Y234C |
probably damaging |
Het |
| Hmcn1 |
T |
C |
1: 150,624,777 (GRCm39) |
S1043G |
probably benign |
Het |
| Kif2a |
T |
A |
13: 107,123,840 (GRCm39) |
K137N |
probably damaging |
Het |
| Mrc2 |
T |
C |
11: 105,239,241 (GRCm39) |
F1332S |
probably damaging |
Het |
| Nme8 |
T |
A |
13: 19,844,682 (GRCm39) |
M375L |
possibly damaging |
Het |
| Or1e32 |
T |
A |
11: 73,705,176 (GRCm39) |
H244L |
probably damaging |
Het |
| Per1 |
T |
C |
11: 68,993,037 (GRCm39) |
L298P |
probably damaging |
Het |
| Polr2b |
A |
G |
5: 77,482,412 (GRCm39) |
N650S |
probably benign |
Het |
| Ppara |
T |
C |
15: 85,682,222 (GRCm39) |
V306A |
probably damaging |
Het |
| Repin1 |
A |
G |
6: 48,574,768 (GRCm39) |
T566A |
possibly damaging |
Het |
| Rhot2 |
T |
A |
17: 26,063,071 (GRCm39) |
D57V |
probably damaging |
Het |
| Samd4b |
C |
T |
7: 28,113,435 (GRCm39) |
G177R |
probably damaging |
Het |
| Slc5a8 |
C |
A |
10: 88,754,304 (GRCm39) |
P435H |
probably damaging |
Het |
| Stpg1 |
G |
A |
4: 135,252,740 (GRCm39) |
A164T |
probably benign |
Het |
| Tll2 |
G |
T |
19: 41,084,423 (GRCm39) |
A668D |
possibly damaging |
Het |
| Txnl1 |
T |
A |
18: 63,808,539 (GRCm39) |
M180L |
probably benign |
Het |
| Vopp1 |
A |
C |
6: 57,766,980 (GRCm39) |
L32R |
probably damaging |
Het |
| Wdr95 |
C |
T |
5: 149,505,323 (GRCm39) |
T226I |
possibly damaging |
Het |
| Wdr95 |
C |
A |
5: 149,518,829 (GRCm39) |
Q557K |
probably benign |
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 |
|
R1235: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