Incidental Mutation 'IGL02465:Gtdc1'
| ID |
294553 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gtdc1
|
| Ensembl Gene |
ENSMUSG00000036890 |
| Gene Name |
glycosyltransferase-like domain containing 1 |
| Synonyms |
E330008O22Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.074)
|
| Stock # |
IGL02465
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
44454424-44817669 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 44460435 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 417
(Y417C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108429
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049051]
[ENSMUST00000112810]
|
| AlphaFold |
Q8BW56 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000049051
AA Change: Y358C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000038119
Gene: ENSMUSG00000036890
AA Change: Y358C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF3524
|
1 |
108 |
1.4e-44 |
PFAM |
|
Pfam:Glycos_transf_1
|
208 |
360 |
4.9e-13 |
PFAM |
|
Pfam:Glyco_trans_1_4
|
210 |
348 |
2.3e-9 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000112810
AA Change: Y417C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000108429
Gene: ENSMUSG00000036890
AA Change: Y417C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF3524
|
2 |
167 |
1.3e-74 |
PFAM |
|
Pfam:Glycos_transf_1
|
266 |
444 |
1.3e-10 |
PFAM |
|
Pfam:Glyco_trans_1_4
|
269 |
407 |
1.4e-8 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134813
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143333
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy3 |
A |
G |
12: 4,250,906 (GRCm39) |
D555G |
probably benign |
Het |
| Anks1b |
T |
A |
10: 89,999,127 (GRCm39) |
C411* |
probably null |
Het |
| Atp5pf |
A |
T |
16: 84,625,358 (GRCm39) |
Y82N |
probably damaging |
Het |
| Cd19 |
A |
T |
7: 126,012,730 (GRCm39) |
V221D |
possibly damaging |
Het |
| Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
| Cyp4f13 |
A |
T |
17: 33,148,110 (GRCm39) |
|
probably null |
Het |
| Ddrgk1 |
T |
C |
2: 130,496,629 (GRCm39) |
D245G |
probably damaging |
Het |
| Eya2 |
A |
G |
2: 165,557,872 (GRCm39) |
D156G |
possibly damaging |
Het |
| Gm42763 |
T |
C |
9: 110,374,365 (GRCm39) |
|
probably benign |
Het |
| Map1b |
T |
C |
13: 99,569,914 (GRCm39) |
T936A |
unknown |
Het |
| Med23 |
G |
A |
10: 24,779,641 (GRCm39) |
R906K |
probably damaging |
Het |
| Mill2 |
G |
A |
7: 18,592,168 (GRCm39) |
W263* |
probably null |
Het |
| Mup20 |
T |
C |
4: 61,970,237 (GRCm39) |
N107D |
possibly damaging |
Het |
| Neb |
A |
G |
2: 52,083,177 (GRCm39) |
|
probably benign |
Het |
| Ntrk2 |
A |
G |
13: 59,208,194 (GRCm39) |
N680S |
probably damaging |
Het |
| Or12d2 |
A |
C |
17: 37,624,802 (GRCm39) |
S158A |
probably damaging |
Het |
| Or9a2 |
C |
T |
6: 41,748,490 (GRCm39) |
V248I |
probably damaging |
Het |
| Pde3a |
A |
G |
6: 141,195,401 (GRCm39) |
H29R |
possibly damaging |
Het |
| Pik3c3 |
T |
C |
18: 30,477,113 (GRCm39) |
I878T |
probably damaging |
Het |
| Plxnd1 |
A |
G |
6: 115,932,703 (GRCm39) |
*1926R |
probably null |
Het |
| Prl8a9 |
T |
A |
13: 27,743,432 (GRCm39) |
L124F |
probably damaging |
Het |
| Proser3 |
A |
T |
7: 30,242,958 (GRCm39) |
N206K |
possibly damaging |
Het |
| Rasef |
G |
T |
4: 73,652,725 (GRCm39) |
T439N |
probably damaging |
Het |
| Slc6a18 |
T |
C |
13: 73,825,904 (GRCm39) |
T49A |
probably benign |
Het |
| Spag17 |
A |
C |
3: 99,983,187 (GRCm39) |
T1496P |
probably damaging |
Het |
| Vmn1r63 |
A |
C |
7: 5,806,038 (GRCm39) |
V198G |
probably damaging |
Het |
| Vmn2r112 |
T |
C |
17: 22,833,975 (GRCm39) |
S548P |
probably damaging |
Het |
| Vps13a |
T |
C |
19: 16,688,305 (GRCm39) |
D834G |
probably benign |
Het |
| Vps8 |
A |
T |
16: 21,340,653 (GRCm39) |
N799I |
probably damaging |
Het |
| Zfhx4 |
A |
G |
3: 5,464,663 (GRCm39) |
H1632R |
possibly damaging |
Het |
| Zp1 |
T |
A |
19: 10,897,851 (GRCm39) |
E30V |
probably benign |
Het |
|
| Other mutations in Gtdc1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01594:Gtdc1
|
APN |
2 |
44,481,891 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02133:Gtdc1
|
APN |
2 |
44,465,455 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02488:Gtdc1
|
APN |
2 |
44,715,451 (GRCm39) |
missense |
probably benign |
0.38 |
|
IGL02835:Gtdc1
|
UTSW |
2 |
44,646,324 (GRCm39) |
nonsense |
probably null |
|
|
K3955:Gtdc1
|
UTSW |
2 |
44,642,233 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R0121:Gtdc1
|
UTSW |
2 |
44,455,550 (GRCm39) |
splice site |
probably benign |
|
|
R0270:Gtdc1
|
UTSW |
2 |
44,642,186 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0490:Gtdc1
|
UTSW |
2 |
44,525,052 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1506:Gtdc1
|
UTSW |
2 |
44,465,506 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R1889:Gtdc1
|
UTSW |
2 |
44,481,926 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1944:Gtdc1
|
UTSW |
2 |
44,642,198 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R3724:Gtdc1
|
UTSW |
2 |
44,646,319 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4134:Gtdc1
|
UTSW |
2 |
44,715,430 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4416:Gtdc1
|
UTSW |
2 |
44,465,602 (GRCm39) |
splice site |
probably null |
|
|
R4666:Gtdc1
|
UTSW |
2 |
44,481,937 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4732:Gtdc1
|
UTSW |
2 |
44,679,067 (GRCm39) |
intron |
probably benign |
|
|
R4947:Gtdc1
|
UTSW |
2 |
44,481,968 (GRCm39) |
missense |
probably null |
0.01 |
|
R5474:Gtdc1
|
UTSW |
2 |
44,646,379 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5911:Gtdc1
|
UTSW |
2 |
44,642,076 (GRCm39) |
missense |
probably benign |
0.41 |
|
R6370:Gtdc1
|
UTSW |
2 |
44,646,334 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6809:Gtdc1
|
UTSW |
2 |
44,715,396 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6809:Gtdc1
|
UTSW |
2 |
44,465,563 (GRCm39) |
nonsense |
probably null |
|
|
R7270:Gtdc1
|
UTSW |
2 |
44,525,322 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7581:Gtdc1
|
UTSW |
2 |
44,680,017 (GRCm39) |
splice site |
probably null |
|
|
R8547:Gtdc1
|
UTSW |
2 |
44,678,993 (GRCm39) |
intron |
probably benign |
|
|
R8951:Gtdc1
|
UTSW |
2 |
44,679,030 (GRCm39) |
intron |
probably benign |
|
|
R8997:Gtdc1
|
UTSW |
2 |
44,715,386 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9796:Gtdc1
|
UTSW |
2 |
44,715,386 (GRCm39) |
missense |
probably benign |
0.02 |
|
X0063:Gtdc1
|
UTSW |
2 |
44,460,459 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation