Incidental Mutation 'IGL01479:Glt8d2'
| ID |
88552 |
| 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: 0.134)
|
| Stock # |
IGL01479
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
82486267-82526484 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 82496570 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 163
(V163I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020485
(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: V163I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000020485
Gene: ENSMUSG00000020251
AA Change: V163I
| 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: V163I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000069188
Gene: ENSMUSG00000020251
AA Change: V163I
| 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: 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: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akr1c12 |
T |
C |
13: 4,322,934 (GRCm39) |
K225R |
probably benign |
Het |
| Amn |
C |
A |
12: 111,238,227 (GRCm39) |
A47E |
probably damaging |
Het |
| Arhgef1 |
T |
C |
7: 24,612,028 (GRCm39) |
I137T |
probably benign |
Het |
| Cep57l1 |
T |
C |
10: 41,604,635 (GRCm39) |
K165E |
possibly damaging |
Het |
| Chfr |
A |
G |
5: 110,292,859 (GRCm39) |
|
probably benign |
Het |
| Dnah9 |
A |
G |
11: 65,846,543 (GRCm39) |
V2923A |
probably benign |
Het |
| Dnaja2 |
T |
C |
8: 86,280,580 (GRCm39) |
Y35C |
probably damaging |
Het |
| Dnajc2 |
T |
C |
5: 21,962,891 (GRCm39) |
T481A |
probably damaging |
Het |
| Foxred2 |
A |
G |
15: 77,836,489 (GRCm39) |
|
probably null |
Het |
| Gin1 |
C |
T |
1: 97,720,097 (GRCm39) |
T364I |
possibly damaging |
Het |
| Gm10118 |
T |
C |
10: 63,762,599 (GRCm39) |
|
probably benign |
Het |
| Hps5 |
C |
T |
7: 46,412,366 (GRCm39) |
|
probably null |
Het |
| Kdm4c |
A |
G |
4: 74,261,738 (GRCm39) |
K638E |
probably benign |
Het |
| L3mbtl2 |
A |
G |
15: 81,560,593 (GRCm39) |
T285A |
probably benign |
Het |
| Mab21l1 |
A |
G |
3: 55,691,253 (GRCm39) |
Y280C |
probably damaging |
Het |
| Mcoln2 |
T |
A |
3: 145,881,407 (GRCm39) |
|
probably benign |
Het |
| Myo9b |
G |
T |
8: 71,811,986 (GRCm39) |
R1926L |
probably damaging |
Het |
| Rrp12 |
A |
G |
19: 41,853,641 (GRCm39) |
V1251A |
probably benign |
Het |
| Rtn4rl1 |
A |
G |
11: 75,156,168 (GRCm39) |
D200G |
probably damaging |
Het |
| Sbsn |
G |
A |
7: 30,451,782 (GRCm39) |
A266T |
possibly damaging |
Het |
| Sgca |
A |
T |
11: 94,854,204 (GRCm39) |
C335* |
probably null |
Het |
| Spag1 |
T |
C |
15: 36,233,345 (GRCm39) |
|
probably benign |
Het |
| Sult6b1 |
A |
T |
17: 79,213,005 (GRCm39) |
V82D |
probably benign |
Het |
| Tigit |
T |
C |
16: 43,479,885 (GRCm39) |
T137A |
probably benign |
Het |
| Tmem125 |
G |
A |
4: 118,398,820 (GRCm39) |
Q204* |
probably null |
Het |
| Tmem59l |
C |
T |
8: 70,938,748 (GRCm39) |
R111Q |
probably benign |
Het |
| Vmn2r95 |
G |
A |
17: 18,664,124 (GRCm39) |
G448R |
probably damaging |
Het |
| Zfp64 |
T |
C |
2: 168,793,599 (GRCm39) |
H49R |
probably 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 |
|
|
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 |
2013-11-18 |
Incidental Mutation