Incidental Mutation 'IGL00686:Glt8d2'
| ID |
10978 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Glt8d2
|
| Ensembl Gene |
ENSMUSG00000020251 |
| Gene Name |
glycosyltransferase 8 domain containing 2 |
| Synonyms |
1110021D20Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.106)
|
| Stock # |
IGL00686
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
82486267-82526484 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 82487347 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Tyrosine
at position 298
(N298Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020485
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020485]
[ENSMUST00000065815]
[ENSMUST00000092266]
[ENSMUST00000125505]
[ENSMUST00000151390]
[ENSMUST00000177353]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000020485
AA Change: N298Y
PolyPhen 2
Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000020485
Gene: ENSMUSG00000020251
AA Change: N298Y
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
Pfam:Glyco_transf_8
|
54 |
326 |
3e-47 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000065815
|
| SMART Domains |
Protein: ENSMUSP00000069188
Gene: ENSMUSG00000020251
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
25 |
N/A |
INTRINSIC |
|
Pfam:Glyco_transf_8
|
54 |
312 |
2.8e-41 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000092266
|
| SMART Domains |
Protein: ENSMUSP00000089917
Gene: ENSMUSG00000034674
| Domain | Start | End | E-Value | Type |
|---|
|
internal_repeat_1
|
3 |
21 |
1.82e-5 |
PROSPERO |
|
internal_repeat_1
|
18 |
36 |
1.82e-5 |
PROSPERO |
|
low complexity region
|
39 |
57 |
N/A |
INTRINSIC |
|
low complexity region
|
63 |
84 |
N/A |
INTRINSIC |
|
UDG
|
112 |
278 |
2.03e0 |
SMART |
|
UreE_C
|
112 |
278 |
2.03e0 |
SMART |
|
low complexity region
|
324 |
335 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000125505
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125970
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128142
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142658
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000150269
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000151390
|
| SMART Domains |
Protein: ENSMUSP00000121000
Gene: ENSMUSG00000034674
| Domain | Start | End | E-Value | Type |
|---|
|
internal_repeat_1
|
23 |
45 |
8.83e-7 |
PROSPERO |
|
internal_repeat_1
|
38 |
60 |
8.83e-7 |
PROSPERO |
|
low complexity region
|
63 |
81 |
N/A |
INTRINSIC |
|
low complexity region
|
87 |
108 |
N/A |
INTRINSIC |
|
UDG
|
136 |
302 |
1.6e-4 |
SMART |
|
UreE_C
|
136 |
302 |
1.6e-4 |
SMART |
|
low complexity region
|
348 |
359 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176326
|
| SMART Domains |
Protein: ENSMUSP00000135009
Gene: ENSMUSG00000034674
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:UreE_C
|
2 |
78 |
9e-50 |
BLAST |
|
SCOP:d1muga_
|
2 |
83 |
2e-10 |
SMART |
|
PDB:2D07|A
|
2 |
123 |
9e-85 |
PDB |
|
low complexity region
|
124 |
135 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176195
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177353
|
| SMART Domains |
Protein: ENSMUSP00000135621
Gene: ENSMUSG00000034674
| Domain | Start | End | E-Value | Type |
|---|
|
UDG
|
28 |
185 |
9.44e0 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Homozygous mutant mice show reduced viability and a decreased serum immunoglobulin response to antigen. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 6 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932438H23Rik |
A |
G |
16: 90,852,489 (GRCm39) |
S216P |
possibly damaging |
Het |
| Btk |
A |
G |
X: 133,460,013 (GRCm39) |
Y152H |
probably damaging |
Het |
| Casp8ap2 |
A |
G |
4: 32,641,433 (GRCm39) |
D829G |
probably damaging |
Het |
| Fam135b |
A |
G |
15: 71,334,168 (GRCm39) |
S1009P |
probably benign |
Het |
| Samt4 |
C |
T |
X: 153,267,128 (GRCm39) |
T89I |
probably benign |
Het |
| Tlcd3b |
C |
T |
7: 126,424,175 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Glt8d2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00848:Glt8d2
|
APN |
10 |
82,497,999 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01479:Glt8d2
|
APN |
10 |
82,496,570 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03185:Glt8d2
|
APN |
10 |
82,498,110 (GRCm39) |
missense |
probably damaging |
1.00 |
|
vitus
|
UTSW |
10 |
82,500,547 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R0139:Glt8d2
|
UTSW |
10 |
82,496,644 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0255:Glt8d2
|
UTSW |
10 |
82,487,361 (GRCm39) |
splice site |
probably null |
|
|
R0464:Glt8d2
|
UTSW |
10 |
82,490,564 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R0483:Glt8d2
|
UTSW |
10 |
82,497,987 (GRCm39) |
unclassified |
probably benign |
|
|
R0789:Glt8d2
|
UTSW |
10 |
82,500,519 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1496:Glt8d2
|
UTSW |
10 |
82,495,372 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1930:Glt8d2
|
UTSW |
10 |
82,500,476 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3715:Glt8d2
|
UTSW |
10 |
82,488,571 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4493:Glt8d2
|
UTSW |
10 |
82,500,547 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R4707:Glt8d2
|
UTSW |
10 |
82,496,583 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4785:Glt8d2
|
UTSW |
10 |
82,496,583 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4886:Glt8d2
|
UTSW |
10 |
82,487,874 (GRCm39) |
unclassified |
probably benign |
|
|
R5420:Glt8d2
|
UTSW |
10 |
82,488,516 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5485:Glt8d2
|
UTSW |
10 |
82,487,282 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R5859:Glt8d2
|
UTSW |
10 |
82,507,915 (GRCm39) |
start codon destroyed |
probably null |
|
|
R6416:Glt8d2
|
UTSW |
10 |
82,488,740 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7527:Glt8d2
|
UTSW |
10 |
82,488,403 (GRCm39) |
missense |
unknown |
|
|
R7563:Glt8d2
|
UTSW |
10 |
82,496,659 (GRCm39) |
splice site |
probably null |
|
|
R7699:Glt8d2
|
UTSW |
10 |
82,498,122 (GRCm39) |
splice site |
probably null |
|
|
R8322:Glt8d2
|
UTSW |
10 |
82,498,037 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8896:Glt8d2
|
UTSW |
10 |
82,490,616 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9716:Glt8d2
|
UTSW |
10 |
82,496,644 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2012-12-06 |
Incidental Mutation