Incidental Mutation 'IGL03235:Glt28d2'
| ID |
414018 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Glt28d2
|
| Ensembl Gene |
ENSMUSG00000031286 |
| Gene Name |
glycosyltransferase 28 domain containing 2 |
| Synonyms |
4732486J07Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.245)
|
| Stock # |
IGL03235
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
85777156-85794823 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 85779109 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 121
(H121Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000033643
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033643]
[ENSMUST00000154148]
|
| AlphaFold |
Q8BML3 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000033643
AA Change: H121Q
PolyPhen 2
Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000033643
Gene: ENSMUSG00000031286
AA Change: H121Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glyco_tran_28_C
|
3 |
159 |
2.6e-31 |
PFAM |
|
Pfam:Glyco_trans_1_3
|
4 |
137 |
5.8e-9 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125216
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146862
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000154148
|
| SMART Domains |
Protein: ENSMUSP00000116393
Gene: ENSMUSG00000102805
| Domain | Start | End | E-Value | Type |
|---|
|
Arfaptin
|
1 |
227 |
7.15e-121 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ap2b1 |
A |
G |
11: 83,232,210 (GRCm39) |
N461S |
probably benign |
Het |
| Baz1a |
A |
T |
12: 54,945,320 (GRCm39) |
V1345E |
probably damaging |
Het |
| Ccdc60 |
T |
A |
5: 116,269,205 (GRCm39) |
M472L |
probably benign |
Het |
| Cenpf |
C |
T |
1: 189,416,124 (GRCm39) |
R67K |
probably damaging |
Het |
| Cfap45 |
A |
T |
1: 172,366,060 (GRCm39) |
R304S |
possibly damaging |
Het |
| D5Ertd579e |
T |
A |
5: 36,776,172 (GRCm39) |
|
probably benign |
Het |
| Eefsec |
T |
C |
6: 88,353,357 (GRCm39) |
D104G |
probably damaging |
Het |
| Eif2ak4 |
A |
G |
2: 118,273,621 (GRCm39) |
S849G |
probably damaging |
Het |
| Frem1 |
G |
A |
4: 82,938,992 (GRCm39) |
T30I |
possibly damaging |
Het |
| Hacl1 |
C |
T |
14: 31,352,995 (GRCm39) |
W106* |
probably null |
Het |
| Marchf6 |
A |
G |
15: 31,486,141 (GRCm39) |
S376P |
probably damaging |
Het |
| Mkrn1 |
T |
C |
6: 39,378,264 (GRCm39) |
Y289C |
probably damaging |
Het |
| Msl2 |
A |
G |
9: 100,977,967 (GRCm39) |
T114A |
probably benign |
Het |
| Ntrk3 |
C |
A |
7: 77,842,340 (GRCm39) |
K829N |
probably damaging |
Het |
| Or4b1d |
A |
T |
2: 89,969,414 (GRCm39) |
V23E |
possibly damaging |
Het |
| Pcdhgc5 |
A |
T |
18: 37,953,151 (GRCm39) |
I142F |
probably damaging |
Het |
| Pip5kl1 |
A |
G |
2: 32,468,166 (GRCm39) |
R153G |
probably damaging |
Het |
| Rgs19 |
T |
C |
2: 181,331,525 (GRCm39) |
K93R |
probably benign |
Het |
| Slc36a4 |
T |
A |
9: 15,634,845 (GRCm39) |
V129E |
probably damaging |
Het |
| Spata13 |
T |
C |
14: 60,989,241 (GRCm39) |
L299P |
probably damaging |
Het |
| Tle2 |
T |
C |
10: 81,422,085 (GRCm39) |
S353P |
probably benign |
Het |
| Trav13d-4 |
T |
C |
14: 53,995,298 (GRCm39) |
V84A |
probably benign |
Het |
| Vmn1r8 |
A |
T |
6: 57,013,746 (GRCm39) |
K266* |
probably null |
Het |
| Wwtr1 |
C |
A |
3: 57,384,954 (GRCm39) |
V255F |
probably benign |
Het |
|
| Other mutations in Glt28d2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01600:Glt28d2
|
APN |
3 |
85,779,290 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02662:Glt28d2
|
APN |
3 |
85,779,423 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0579:Glt28d2
|
UTSW |
3 |
85,779,440 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4326:Glt28d2
|
UTSW |
3 |
85,779,393 (GRCm39) |
nonsense |
probably null |
|
|
R6170:Glt28d2
|
UTSW |
3 |
85,779,248 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R6798:Glt28d2
|
UTSW |
3 |
85,779,296 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8853:Glt28d2
|
UTSW |
3 |
85,779,087 (GRCm39) |
missense |
probably benign |
|
|
R8890:Glt28d2
|
UTSW |
3 |
85,779,359 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R9632:Glt28d2
|
UTSW |
3 |
85,779,059 (GRCm39) |
missense |
probably benign |
0.13 |
|
R9710:Glt28d2
|
UTSW |
3 |
85,779,059 (GRCm39) |
missense |
probably benign |
0.13 |
|
| Posted On |
2016-08-02 |
Incidental Mutation