Incidental Mutation 'IGL03185:Glt8d2'
| ID |
412428 |
| 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 # |
IGL03185
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
82486267-82526484 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 82498110 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 100
(I100F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000069188
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020485]
[ENSMUST00000065815]
[ENSMUST00000125505]
[ENSMUST00000155529]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000020485
AA Change: I100F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000020485
Gene: ENSMUSG00000020251
AA Change: I100F
| 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 damaging
Transcript: ENSMUST00000065815
AA Change: I100F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000069188
Gene: ENSMUSG00000020251
AA Change: I100F
| 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 |
silent
Transcript: ENSMUST00000125505
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155529
|
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam15 |
T |
C |
3: 89,255,212 (GRCm39) |
D77G |
probably benign |
Het |
| Ank2 |
C |
A |
3: 126,749,519 (GRCm39) |
E503D |
probably damaging |
Het |
| Babam2 |
T |
C |
5: 31,859,376 (GRCm39) |
I27T |
possibly damaging |
Het |
| Ccdc150 |
A |
G |
1: 54,339,482 (GRCm39) |
E442G |
probably damaging |
Het |
| Ccdc92 |
A |
G |
5: 124,913,014 (GRCm39) |
Y172H |
probably damaging |
Het |
| Chl1 |
T |
A |
6: 103,642,824 (GRCm39) |
D187E |
probably damaging |
Het |
| Col6a4 |
A |
T |
9: 105,896,653 (GRCm39) |
F1721I |
probably damaging |
Het |
| Corin |
C |
T |
5: 72,490,124 (GRCm39) |
G542D |
probably damaging |
Het |
| Dennd1c |
C |
T |
17: 57,373,803 (GRCm39) |
D587N |
probably benign |
Het |
| Dnah10 |
A |
G |
5: 124,894,707 (GRCm39) |
Y3424C |
probably damaging |
Het |
| Echdc1 |
T |
A |
10: 29,207,836 (GRCm39) |
F127I |
possibly damaging |
Het |
| F13b |
T |
A |
1: 139,444,124 (GRCm39) |
V486E |
probably benign |
Het |
| Fkbp15 |
C |
T |
4: 62,250,423 (GRCm39) |
|
probably null |
Het |
| Gmip |
C |
T |
8: 70,262,433 (GRCm39) |
P10L |
probably benign |
Het |
| Grm7 |
T |
C |
6: 110,623,183 (GRCm39) |
S119P |
possibly damaging |
Het |
| Klf4 |
T |
C |
4: 55,530,911 (GRCm39) |
T58A |
possibly damaging |
Het |
| Mink1 |
T |
C |
11: 70,494,686 (GRCm39) |
I289T |
probably damaging |
Het |
| Mptx2 |
A |
T |
1: 173,102,356 (GRCm39) |
V111D |
possibly damaging |
Het |
| Muc5b |
A |
T |
7: 141,416,559 (GRCm39) |
E3168D |
possibly damaging |
Het |
| Mylk3 |
C |
A |
8: 86,053,833 (GRCm39) |
V695F |
probably damaging |
Het |
| Or11j4 |
C |
A |
14: 50,630,855 (GRCm39) |
T214K |
probably damaging |
Het |
| Or7g21 |
T |
A |
9: 19,033,034 (GRCm39) |
V258E |
probably damaging |
Het |
| Pcare |
A |
T |
17: 72,056,332 (GRCm39) |
I1115K |
probably damaging |
Het |
| Pira13 |
A |
G |
7: 3,826,229 (GRCm39) |
Y255H |
probably damaging |
Het |
| Poglut2 |
G |
A |
1: 44,156,359 (GRCm39) |
S76L |
probably benign |
Het |
| Pprc1 |
C |
A |
19: 46,058,186 (GRCm39) |
|
probably benign |
Het |
| Prkaa2 |
C |
T |
4: 104,896,918 (GRCm39) |
|
probably null |
Het |
| Prss50 |
A |
G |
9: 110,687,279 (GRCm39) |
Y74C |
probably benign |
Het |
| Rnf145 |
T |
C |
11: 44,422,157 (GRCm39) |
L80P |
probably damaging |
Het |
| Serpinb3b |
T |
C |
1: 107,084,662 (GRCm39) |
I120V |
probably benign |
Het |
| Sgca |
T |
C |
11: 94,861,610 (GRCm39) |
M212V |
probably benign |
Het |
| Slc1a6 |
T |
A |
10: 78,637,741 (GRCm39) |
D422E |
probably damaging |
Het |
| Slc30a9 |
A |
G |
5: 67,490,406 (GRCm39) |
R226G |
probably benign |
Het |
| Slc5a11 |
A |
G |
7: 122,864,412 (GRCm39) |
D336G |
possibly damaging |
Het |
| Slfn8 |
T |
C |
11: 82,908,333 (GRCm39) |
H70R |
probably benign |
Het |
| Stoml2 |
T |
C |
4: 43,029,065 (GRCm39) |
N269S |
probably benign |
Het |
| Synrg |
A |
G |
11: 83,872,305 (GRCm39) |
E142G |
probably damaging |
Het |
| Thbs2 |
G |
A |
17: 14,901,672 (GRCm39) |
Q436* |
probably null |
Het |
| Tyk2 |
T |
C |
9: 21,020,680 (GRCm39) |
N917S |
probably damaging |
Het |
| Zfhx4 |
C |
A |
3: 5,468,974 (GRCm39) |
T3069K |
probably benign |
Het |
| Zfp446 |
G |
T |
7: 12,712,925 (GRCm39) |
V88F |
probably null |
Het |
| Zp3 |
A |
G |
5: 136,011,575 (GRCm39) |
N131S |
possibly damaging |
Het |
|
| Other mutations in Glt8d2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00686:Glt8d2
|
APN |
10 |
82,487,347 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
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 |
|
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 |
2016-08-02 |
Incidental Mutation