Incidental Mutation 'IGL02488:Gtdc1'
ID |
295530 |
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 # |
IGL02488
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
44454424-44817669 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 44715451 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 31
(Y31H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000116839
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000100127]
[ENSMUST00000112810]
[ENSMUST00000130991]
[ENSMUST00000148279]
[ENSMUST00000154744]
[ENSMUST00000146694]
|
AlphaFold |
Q8BW56 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000100127
AA Change: Y31H
PolyPhen 2
Score 0.225 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000097703 Gene: ENSMUSG00000036890 AA Change: Y31H
Domain | Start | End | E-Value | Type |
Pfam:DUF3524
|
1 |
64 |
1.1e-18 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000112810
AA Change: Y31H
PolyPhen 2
Score 0.146 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000108429 Gene: ENSMUSG00000036890 AA Change: Y31H
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: ENSMUST00000129240
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000130991
AA Change: Y31H
PolyPhen 2
Score 0.383 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000116839 Gene: ENSMUSG00000036890 AA Change: Y31H
Domain | Start | End | E-Value | Type |
Pfam:DUF3524
|
1 |
87 |
1.7e-19 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133442
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143766
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000148279
AA Change: Y31H
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000120593 Gene: ENSMUSG00000036890 AA Change: Y31H
Domain | Start | End | E-Value | Type |
Pfam:DUF3524
|
1 |
167 |
8.7e-68 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000154744
AA Change: Y31H
PolyPhen 2
Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000119239 Gene: ENSMUSG00000036890 AA Change: Y31H
Domain | Start | End | E-Value | Type |
Pfam:DUF3524
|
1 |
115 |
2.3e-44 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000146694
AA Change: Y31H
PolyPhen 2
Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000119639 Gene: ENSMUSG00000036890 AA Change: Y31H
Domain | Start | End | E-Value | Type |
Pfam:DUF3524
|
1 |
116 |
1e-44 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148786
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam5 |
C |
T |
8: 25,282,022 (GRCm39) |
D417N |
probably damaging |
Het |
Akr1d1 |
A |
T |
6: 37,544,095 (GRCm39) |
E324D |
probably benign |
Het |
Ankrd34a |
A |
G |
3: 96,506,229 (GRCm39) |
I478V |
probably benign |
Het |
C8b |
A |
G |
4: 104,661,278 (GRCm39) |
H498R |
probably benign |
Het |
Cct6a |
T |
G |
5: 129,866,885 (GRCm39) |
|
probably benign |
Het |
Enpp7 |
C |
A |
11: 118,879,640 (GRCm39) |
T98N |
probably damaging |
Het |
Fcna |
A |
T |
2: 25,515,223 (GRCm39) |
|
probably null |
Het |
Gzme |
A |
T |
14: 56,355,849 (GRCm39) |
N154K |
probably benign |
Het |
Hectd4 |
T |
C |
5: 121,430,150 (GRCm39) |
V849A |
probably benign |
Het |
Hps1 |
C |
T |
19: 42,746,227 (GRCm39) |
|
probably benign |
Het |
Incenp |
A |
T |
19: 9,870,771 (GRCm39) |
I286N |
unknown |
Het |
Matn1 |
G |
T |
4: 130,671,804 (GRCm39) |
V24F |
probably benign |
Het |
Mcm3ap |
A |
G |
10: 76,335,483 (GRCm39) |
T1302A |
probably damaging |
Het |
Megf10 |
A |
G |
18: 57,425,704 (GRCm39) |
Y1030C |
probably damaging |
Het |
Mpdu1 |
T |
C |
11: 69,549,435 (GRCm39) |
T87A |
probably damaging |
Het |
Or1j18 |
T |
A |
2: 36,624,362 (GRCm39) |
S10T |
probably benign |
Het |
Or52h1 |
T |
A |
7: 103,829,478 (GRCm39) |
I46F |
possibly damaging |
Het |
Pde6h |
A |
G |
6: 136,940,264 (GRCm39) |
|
probably null |
Het |
Pkhd1l1 |
A |
G |
15: 44,421,993 (GRCm39) |
I3088V |
probably benign |
Het |
Plec |
G |
T |
15: 76,063,359 (GRCm39) |
T2259K |
possibly damaging |
Het |
Ptch2 |
C |
T |
4: 116,967,593 (GRCm39) |
R754C |
probably damaging |
Het |
Ptpn12 |
T |
C |
5: 21,227,060 (GRCm39) |
T81A |
possibly damaging |
Het |
Sars2 |
C |
T |
7: 28,441,585 (GRCm39) |
R49* |
probably null |
Het |
Scyl1 |
G |
T |
19: 5,820,341 (GRCm39) |
Y164* |
probably null |
Het |
Smarcd1 |
T |
C |
15: 99,609,082 (GRCm39) |
C419R |
possibly damaging |
Het |
Syne2 |
C |
A |
12: 76,012,512 (GRCm39) |
R2568S |
probably benign |
Het |
Tap2 |
A |
G |
17: 34,433,616 (GRCm39) |
|
probably benign |
Het |
Thrb |
T |
A |
14: 18,033,455 (GRCm38) |
I406K |
probably damaging |
Het |
Tnn |
T |
A |
1: 159,968,163 (GRCm39) |
I410F |
probably benign |
Het |
Tns2 |
T |
C |
15: 102,021,178 (GRCm39) |
S940P |
probably benign |
Het |
Trav6-2 |
A |
G |
14: 52,905,243 (GRCm39) |
K88R |
probably benign |
Het |
Ttbk2 |
T |
C |
2: 120,586,352 (GRCm39) |
M386V |
probably benign |
Het |
Vldlr |
A |
G |
19: 27,215,675 (GRCm39) |
E224G |
probably damaging |
Het |
Vmn1r46 |
T |
A |
6: 89,953,963 (GRCm39) |
C271S |
probably benign |
Het |
Zfhx2 |
T |
C |
14: 55,302,560 (GRCm39) |
E1808G |
possibly damaging |
Het |
Zfp385a |
A |
G |
15: 103,228,733 (GRCm39) |
I42T |
probably damaging |
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 |
IGL02465:Gtdc1
|
APN |
2 |
44,460,435 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |