Incidental Mutation 'IGL01582:Gramd2b'
| ID |
91384 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gramd2b
|
| Ensembl Gene |
ENSMUSG00000001700 |
| Gene Name |
GRAM domain containing 2B |
| Synonyms |
9130427A09Rik, Gramd3, 9030613F08Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01582
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
56533412-56636864 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 56618488 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 232
(E232G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000068453
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070166]
|
| AlphaFold |
Q6PEM6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000070166
AA Change: E232G
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000068453
Gene: ENSMUSG00000001700
AA Change: E232G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
69 |
82 |
N/A |
INTRINSIC |
|
low complexity region
|
86 |
104 |
N/A |
INTRINSIC |
|
GRAM
|
110 |
177 |
3.06e-23 |
SMART |
|
transmembrane domain
|
342 |
364 |
N/A |
INTRINSIC |
|
coiled coil region
|
404 |
430 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aurkb |
G |
A |
11: 68,939,605 (GRCm39) |
V201I |
probably damaging |
Het |
| Csmd2 |
G |
T |
4: 128,457,098 (GRCm39) |
E212* |
probably null |
Het |
| Dsg1a |
G |
T |
18: 20,461,905 (GRCm39) |
K335N |
probably null |
Het |
| Epn2 |
A |
G |
11: 61,412,695 (GRCm39) |
S430P |
probably benign |
Het |
| Ezh2 |
A |
T |
6: 47,532,989 (GRCm39) |
Y144* |
probably null |
Het |
| Fcgbp |
G |
T |
7: 27,793,067 (GRCm39) |
D1024Y |
probably benign |
Het |
| Inf2 |
A |
G |
12: 112,576,993 (GRCm39) |
K989R |
unknown |
Het |
| Lrpprc |
G |
A |
17: 85,061,971 (GRCm39) |
A577V |
probably null |
Het |
| Mansc1 |
T |
A |
6: 134,598,836 (GRCm39) |
N27I |
possibly damaging |
Het |
| Nr1i3 |
A |
T |
1: 171,042,541 (GRCm39) |
I56F |
possibly damaging |
Het |
| Ntpcr |
T |
C |
8: 126,471,981 (GRCm39) |
S64P |
probably benign |
Het |
| Or52e19b |
A |
T |
7: 103,032,806 (GRCm39) |
Y134* |
probably null |
Het |
| Ppwd1 |
A |
G |
13: 104,350,212 (GRCm39) |
I391T |
probably benign |
Het |
| Serpinb3d |
A |
G |
1: 107,007,396 (GRCm39) |
F197L |
probably damaging |
Het |
| Siglecf |
A |
G |
7: 43,008,145 (GRCm39) |
N553D |
possibly damaging |
Het |
| Slc2a2 |
A |
G |
3: 28,762,637 (GRCm39) |
D60G |
probably benign |
Het |
| Speer1j |
A |
G |
5: 11,555,240 (GRCm39) |
T70A |
probably benign |
Het |
| Spsb4 |
T |
G |
9: 96,878,143 (GRCm39) |
D60A |
probably damaging |
Het |
| Tnnt1 |
T |
C |
7: 4,512,982 (GRCm39) |
E100G |
probably damaging |
Het |
| Zmiz1 |
T |
C |
14: 25,658,654 (GRCm39) |
M938T |
probably benign |
Het |
|
| Other mutations in Gramd2b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01903:Gramd2b
|
APN |
18 |
56,607,101 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02203:Gramd2b
|
APN |
18 |
56,612,026 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03210:Gramd2b
|
APN |
18 |
56,607,170 (GRCm39) |
missense |
probably benign |
|
|
PIT4283001:Gramd2b
|
UTSW |
18 |
56,622,735 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0432:Gramd2b
|
UTSW |
18 |
56,607,141 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1623:Gramd2b
|
UTSW |
18 |
56,565,423 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4019:Gramd2b
|
UTSW |
18 |
56,612,026 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4125:Gramd2b
|
UTSW |
18 |
56,618,296 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4750:Gramd2b
|
UTSW |
18 |
56,565,372 (GRCm39) |
missense |
probably benign |
0.44 |
|
R4927:Gramd2b
|
UTSW |
18 |
56,618,523 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5495:Gramd2b
|
UTSW |
18 |
56,615,694 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5866:Gramd2b
|
UTSW |
18 |
56,607,108 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6443:Gramd2b
|
UTSW |
18 |
56,618,457 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6672:Gramd2b
|
UTSW |
18 |
56,565,408 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R7030:Gramd2b
|
UTSW |
18 |
56,618,321 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7099:Gramd2b
|
UTSW |
18 |
56,625,017 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7162:Gramd2b
|
UTSW |
18 |
56,618,529 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7854:Gramd2b
|
UTSW |
18 |
56,611,926 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7975:Gramd2b
|
UTSW |
18 |
56,618,451 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9758:Gramd2b
|
UTSW |
18 |
56,611,972 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-12-09 |
Incidental Mutation