Incidental Mutation 'IGL03158:Rem2'
| ID |
411332 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Rem2
|
| Ensembl Gene |
ENSMUSG00000022176 |
| Gene Name |
rad and gem related GTP binding protein 2 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.088)
|
| Stock # |
IGL03158
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
54713557-54717888 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 54716415 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 176
(D176G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127199
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000164697]
[ENSMUST00000164766]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
silent
Transcript: ENSMUST00000164697
|
| SMART Domains |
Protein: ENSMUSP00000132998
Gene: ENSMUSG00000022176
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
1 |
13 |
N/A |
INTRINSIC |
|
low complexity region
|
56 |
68 |
N/A |
INTRINSIC |
|
SCOP:d1f6ba_
|
107 |
135 |
5e-5 |
SMART |
|
PDB:3Q85|B
|
114 |
149 |
3e-17 |
PDB |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164766
AA Change: D176G
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000127199
Gene: ENSMUSG00000022176
AA Change: D176G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
1 |
13 |
N/A |
INTRINSIC |
|
low complexity region
|
56 |
68 |
N/A |
INTRINSIC |
|
low complexity region
|
90 |
108 |
N/A |
INTRINSIC |
|
Pfam:Roc
|
117 |
234 |
3e-11 |
PFAM |
|
Pfam:Ras
|
117 |
280 |
4.8e-31 |
PFAM |
|
low complexity region
|
292 |
303 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168930
|
| SMART Domains |
Protein: ENSMUSP00000131989
Gene: ENSMUSG00000022176
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
22 |
34 |
N/A |
INTRINSIC |
|
low complexity region
|
56 |
74 |
N/A |
INTRINSIC |
|
Pfam:Ras
|
83 |
140 |
2.7e-7 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000170337
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 18 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Anapc5 |
T |
C |
5: 122,955,960 (GRCm39) |
T157A |
probably benign |
Het |
| Brms1l |
A |
G |
12: 55,883,320 (GRCm39) |
E11G |
possibly damaging |
Het |
| C2cd3 |
A |
G |
7: 100,023,683 (GRCm39) |
T90A |
probably damaging |
Het |
| Eml5 |
A |
T |
12: 98,793,773 (GRCm39) |
|
probably benign |
Het |
| Fgl1 |
A |
T |
8: 41,662,810 (GRCm39) |
H58Q |
probably benign |
Het |
| Ipo5 |
T |
C |
14: 121,179,303 (GRCm39) |
|
probably benign |
Het |
| Lyst |
T |
C |
13: 13,826,337 (GRCm39) |
|
probably null |
Het |
| Map1s |
T |
C |
8: 71,367,378 (GRCm39) |
L761P |
probably damaging |
Het |
| Mup21 |
T |
C |
4: 62,068,525 (GRCm39) |
E47G |
probably benign |
Het |
| Mup6 |
T |
A |
4: 60,005,480 (GRCm39) |
F104I |
possibly damaging |
Het |
| Or5w12 |
G |
A |
2: 87,502,135 (GRCm39) |
T192I |
probably benign |
Het |
| Or6c3b |
T |
A |
10: 129,527,587 (GRCm39) |
T108S |
probably benign |
Het |
| Pdcd11 |
A |
T |
19: 47,116,500 (GRCm39) |
D1550V |
possibly damaging |
Het |
| Prex2 |
C |
A |
1: 11,336,291 (GRCm39) |
S1496R |
possibly damaging |
Het |
| Prpf4 |
A |
G |
4: 62,334,256 (GRCm39) |
H237R |
probably benign |
Het |
| Pygl |
G |
T |
12: 70,242,449 (GRCm39) |
T578K |
probably damaging |
Het |
| Unc80 |
T |
C |
1: 66,680,833 (GRCm39) |
V2143A |
probably benign |
Het |
| Wdr4 |
T |
C |
17: 31,718,102 (GRCm39) |
Q324R |
probably benign |
Het |
|
| Other mutations in Rem2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0110:Rem2
|
UTSW |
14 |
54,713,754 (GRCm39) |
unclassified |
probably benign |
|
|
R0450:Rem2
|
UTSW |
14 |
54,713,754 (GRCm39) |
unclassified |
probably benign |
|
|
R0510:Rem2
|
UTSW |
14 |
54,713,754 (GRCm39) |
unclassified |
probably benign |
|
|
R1562:Rem2
|
UTSW |
14 |
54,713,775 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1673:Rem2
|
UTSW |
14 |
54,713,766 (GRCm39) |
unclassified |
probably benign |
|
|
R1718:Rem2
|
UTSW |
14 |
54,716,607 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2878:Rem2
|
UTSW |
14 |
54,713,819 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4569:Rem2
|
UTSW |
14 |
54,715,116 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4570:Rem2
|
UTSW |
14 |
54,715,116 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4571:Rem2
|
UTSW |
14 |
54,715,116 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6045:Rem2
|
UTSW |
14 |
54,715,225 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6521:Rem2
|
UTSW |
14 |
54,715,144 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R7042:Rem2
|
UTSW |
14 |
54,715,548 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7861:Rem2
|
UTSW |
14 |
54,715,256 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Rem2
|
UTSW |
14 |
54,717,038 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation