Incidental Mutation 'IGL01594:Gtdc1'
| ID |
91694 |
| 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 # |
IGL01594
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
44454424-44817669 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 44481891 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116839
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049051]
[ENSMUST00000112810]
[ENSMUST00000130991]
[ENSMUST00000146694]
|
| AlphaFold |
Q8BW56 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000049051
|
| SMART Domains |
Protein: ENSMUSP00000038119
Gene: ENSMUSG00000036890
| 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 null
Transcript: ENSMUST00000112810
|
| SMART Domains |
Protein: ENSMUSP00000108429
Gene: ENSMUSG00000036890
| 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 null
Transcript: ENSMUST00000130991
|
| SMART Domains |
Protein: ENSMUSP00000116839
Gene: ENSMUSG00000036890
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF3524
|
1 |
87 |
1.7e-19 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000146694
|
| SMART Domains |
Protein: ENSMUSP00000119639
Gene: ENSMUSG00000036890
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF3524
|
1 |
116 |
1e-44 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb4 |
A |
T |
5: 8,996,071 (GRCm39) |
|
probably null |
Het |
| Acss1 |
A |
T |
2: 150,463,450 (GRCm39) |
V618E |
probably damaging |
Het |
| Adgrg6 |
T |
C |
10: 14,310,084 (GRCm39) |
N774D |
probably damaging |
Het |
| Atp9a |
A |
G |
2: 168,532,932 (GRCm39) |
V134A |
probably damaging |
Het |
| Csmd3 |
T |
A |
15: 47,492,635 (GRCm39) |
T3169S |
probably benign |
Het |
| D030068K23Rik |
T |
A |
8: 109,978,009 (GRCm39) |
Q52L |
unknown |
Het |
| Dnah5 |
T |
C |
15: 28,311,480 (GRCm39) |
S1820P |
possibly damaging |
Het |
| Fem1c |
A |
C |
18: 46,639,343 (GRCm39) |
S220A |
probably benign |
Het |
| Gm10305 |
G |
A |
4: 99,161,414 (GRCm39) |
D108N |
unknown |
Het |
| Il2ra |
T |
C |
2: 11,685,207 (GRCm39) |
V181A |
possibly damaging |
Het |
| Lrrn1 |
T |
C |
6: 107,544,454 (GRCm39) |
I84T |
probably damaging |
Het |
| Map3k1 |
T |
A |
13: 111,894,723 (GRCm39) |
|
probably null |
Het |
| Mical1 |
T |
G |
10: 41,356,325 (GRCm39) |
Y293D |
probably damaging |
Het |
| Mpzl1 |
T |
C |
1: 165,421,161 (GRCm39) |
D266G |
probably damaging |
Het |
| Or55b4 |
C |
A |
7: 102,134,254 (GRCm39) |
M24I |
probably benign |
Het |
| Pabpc4l |
A |
T |
3: 46,401,581 (GRCm39) |
V21D |
probably damaging |
Het |
| Prdm10 |
T |
C |
9: 31,258,149 (GRCm39) |
C525R |
probably damaging |
Het |
| Ptprj |
C |
A |
2: 90,271,139 (GRCm39) |
|
probably benign |
Het |
| Rgs3 |
T |
C |
4: 62,537,981 (GRCm39) |
F4S |
probably damaging |
Het |
| Ryr3 |
G |
A |
2: 112,603,073 (GRCm39) |
T2457I |
probably damaging |
Het |
| Scn3a |
A |
G |
2: 65,291,775 (GRCm39) |
I1657T |
probably damaging |
Het |
| Sema6a |
A |
G |
18: 47,381,884 (GRCm39) |
S888P |
probably damaging |
Het |
| Slc37a1 |
T |
A |
17: 31,538,122 (GRCm39) |
Y148* |
probably null |
Het |
| Tex10 |
T |
C |
4: 48,469,906 (GRCm39) |
N53S |
possibly damaging |
Het |
| Tyr |
A |
T |
7: 87,133,022 (GRCm39) |
|
probably benign |
Het |
| Vmn2r100 |
A |
G |
17: 19,751,495 (GRCm39) |
S513G |
possibly damaging |
Het |
|
| Other mutations in Gtdc1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2013-12-09 |
Incidental Mutation