Incidental Mutation 'IGL02133:Gtdc1'
| ID |
281075 |
| 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 # |
IGL02133
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
44454424-44817669 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 44465455 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 305
(M305K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000038119
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049051]
[ENSMUST00000112810]
[ENSMUST00000130991]
|
| AlphaFold |
Q8BW56 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000049051
AA Change: M305K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000038119
Gene: ENSMUSG00000036890
AA Change: M305K
| 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: M364K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000108429
Gene: ENSMUSG00000036890
AA Change: M364K
| 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 |
probably benign
Transcript: ENSMUST00000130991
|
| SMART Domains |
Protein: ENSMUSP00000116839
Gene: ENSMUSG00000036890
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF3524
|
1 |
87 |
1.7e-19 |
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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9530068E07Rik |
G |
T |
11: 52,294,337 (GRCm39) |
A193S |
probably damaging |
Het |
| Adam4 |
A |
G |
12: 81,466,803 (GRCm39) |
V606A |
probably benign |
Het |
| Atp2c2 |
A |
G |
8: 120,481,074 (GRCm39) |
I821V |
probably benign |
Het |
| Bmi1 |
A |
T |
2: 18,688,488 (GRCm39) |
R160W |
probably damaging |
Het |
| Ccdc198 |
T |
A |
14: 49,470,424 (GRCm39) |
Q165L |
probably benign |
Het |
| Ccdc88c |
G |
A |
12: 100,906,349 (GRCm39) |
R1062C |
probably damaging |
Het |
| Cntnap3 |
A |
T |
13: 64,899,487 (GRCm39) |
|
probably benign |
Het |
| Col20a1 |
C |
T |
2: 180,648,937 (GRCm39) |
T940I |
probably damaging |
Het |
| Csmd3 |
A |
C |
15: 47,721,338 (GRCm39) |
M1535R |
possibly damaging |
Het |
| Dhx38 |
C |
A |
8: 110,284,873 (GRCm39) |
E487* |
probably null |
Het |
| Fam186b |
A |
G |
15: 99,171,584 (GRCm39) |
S888P |
probably damaging |
Het |
| Fancm |
G |
A |
12: 65,153,249 (GRCm39) |
G1235D |
probably benign |
Het |
| Grin3a |
C |
T |
4: 49,792,946 (GRCm39) |
W262* |
probably null |
Het |
| H2-M9 |
T |
C |
17: 36,952,629 (GRCm39) |
E139G |
possibly damaging |
Het |
| Haus1 |
A |
T |
18: 77,854,611 (GRCm39) |
L53Q |
probably damaging |
Het |
| Hgfac |
A |
G |
5: 35,203,931 (GRCm39) |
Y483C |
probably damaging |
Het |
| Hipk2 |
C |
T |
6: 38,796,069 (GRCm39) |
V67I |
probably benign |
Het |
| Kbtbd8 |
T |
C |
6: 95,098,713 (GRCm39) |
|
probably benign |
Het |
| Kndc1 |
A |
G |
7: 139,500,683 (GRCm39) |
T683A |
probably benign |
Het |
| Ldhb |
A |
T |
6: 142,438,226 (GRCm39) |
M277K |
probably benign |
Het |
| Mgam |
T |
C |
6: 40,620,010 (GRCm39) |
L33P |
probably damaging |
Het |
| Ndst1 |
A |
G |
18: 60,832,618 (GRCm39) |
F571L |
probably benign |
Het |
| Neb |
G |
T |
2: 52,102,816 (GRCm39) |
|
probably null |
Het |
| Nrxn1 |
A |
G |
17: 90,950,671 (GRCm39) |
S503P |
probably damaging |
Het |
| Paqr3 |
A |
G |
5: 97,243,790 (GRCm39) |
V308A |
probably benign |
Het |
| Scnn1g |
T |
C |
7: 121,342,922 (GRCm39) |
F292L |
probably damaging |
Het |
| Stk3 |
A |
G |
15: 35,099,662 (GRCm39) |
F88S |
probably damaging |
Het |
| Tcaf2 |
T |
A |
6: 42,604,330 (GRCm39) |
E683V |
probably benign |
Het |
| Tprkb |
T |
C |
6: 85,904,893 (GRCm39) |
V123A |
probably benign |
Het |
| Ush2a |
T |
C |
1: 188,175,540 (GRCm39) |
Y1213H |
probably damaging |
Het |
| Vwa5b1 |
A |
G |
4: 138,313,868 (GRCm39) |
|
probably null |
Het |
| Wls |
A |
G |
3: 159,603,007 (GRCm39) |
Y140C |
probably damaging |
Het |
| Zan |
A |
G |
5: 137,409,760 (GRCm39) |
S28P |
possibly 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 |
|
|
IGL02465:Gtdc1
|
APN |
2 |
44,460,435 (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