Incidental Mutation 'K3955:Gtdc1'
| ID |
67220 |
| Institutional Source |
Beutler Lab
|
| 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 # |
K3955 (G3)
of strain
706
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
44454424-44817669 bp(-) (GRCm39) |
| Type of Mutation |
critical splice acceptor site |
| DNA Base Change (assembly) |
C to T
at 44642233 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120593
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049051]
[ENSMUST00000112810]
[ENSMUST00000130991]
[ENSMUST00000146694]
[ENSMUST00000148279]
[ENSMUST00000154744]
|
| 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 |
noncoding transcript
Transcript: ENSMUST00000129240
|
| 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 |
probably benign
Transcript: ENSMUST00000146694
|
| SMART Domains |
Protein: ENSMUSP00000119639
Gene: ENSMUSG00000036890
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF3524
|
1 |
116 |
1e-44 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000148279
|
| SMART Domains |
Protein: ENSMUSP00000120593
Gene: ENSMUSG00000036890
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF3524
|
1 |
167 |
8.7e-68 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148786
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000154744
|
| SMART Domains |
Protein: ENSMUSP00000119239
Gene: ENSMUSG00000036890
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF3524
|
1 |
115 |
2.3e-44 |
PFAM |
|
| Meta Mutation Damage Score |
0.9483 |
| Coding Region Coverage |
- 1x: 99.5%
- 3x: 98.9%
- 10x: 97.4%
- 20x: 94.9%
|
| Validation Efficiency |
100% (42/42) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agap1 |
G |
A |
1: 89,815,326 (GRCm39) |
R738H |
probably damaging |
Het |
| Arhgap28 |
T |
C |
17: 68,311,001 (GRCm39) |
E2G |
probably damaging |
Het |
| Atad2b |
C |
A |
12: 5,004,536 (GRCm39) |
|
probably benign |
Het |
| Atmin |
T |
A |
8: 117,683,775 (GRCm39) |
C478* |
probably null |
Het |
| Calr |
T |
C |
8: 85,572,902 (GRCm39) |
Y57C |
probably damaging |
Het |
| Cdh13 |
G |
A |
8: 119,401,843 (GRCm39) |
V82M |
probably damaging |
Het |
| Ces3a |
A |
T |
8: 105,777,259 (GRCm39) |
|
probably benign |
Het |
| Dmbt1 |
T |
C |
7: 130,721,293 (GRCm39) |
Y1854H |
probably damaging |
Het |
| Dnah1 |
T |
A |
14: 30,988,416 (GRCm39) |
M3429L |
probably benign |
Het |
| Dscam |
A |
G |
16: 96,474,887 (GRCm39) |
F1225S |
probably benign |
Het |
| E030025P04Rik |
G |
A |
11: 109,034,778 (GRCm39) |
P37S |
unknown |
Het |
| Eral1 |
A |
T |
11: 77,966,847 (GRCm39) |
D189E |
probably damaging |
Het |
| Fbxw14 |
G |
T |
9: 109,105,313 (GRCm39) |
P284Q |
possibly damaging |
Het |
| Fcrl6 |
A |
G |
1: 172,425,251 (GRCm39) |
V260A |
probably benign |
Het |
| Fezf2 |
A |
T |
14: 12,345,097 (GRCm38) |
F30Y |
probably damaging |
Het |
| Gjb4 |
A |
T |
4: 127,245,293 (GRCm39) |
V216D |
probably benign |
Het |
| Gm9758 |
G |
A |
5: 14,963,522 (GRCm39) |
|
probably benign |
Het |
| Gm9758 |
C |
G |
5: 14,963,553 (GRCm39) |
V92L |
probably benign |
Het |
| Gmps |
A |
C |
3: 63,908,954 (GRCm39) |
R485S |
probably damaging |
Het |
| H2-Ob |
C |
T |
17: 34,460,158 (GRCm39) |
R19C |
probably damaging |
Het |
| Lars2 |
T |
C |
9: 123,206,842 (GRCm39) |
V103A |
probably damaging |
Het |
| Mtrex |
A |
C |
13: 113,047,513 (GRCm39) |
Y277* |
probably null |
Het |
| Ndnf |
G |
A |
6: 65,678,413 (GRCm39) |
|
probably benign |
Het |
| Nectin1 |
A |
G |
9: 43,703,375 (GRCm39) |
Y211C |
probably damaging |
Het |
| Notch4 |
C |
T |
17: 34,787,436 (GRCm39) |
T332I |
probably damaging |
Het |
| Or13c25 |
A |
G |
4: 52,911,081 (GRCm39) |
F238L |
probably damaging |
Het |
| Or8g28 |
A |
C |
9: 39,169,926 (GRCm39) |
L14W |
probably damaging |
Het |
| Or8g53 |
A |
G |
9: 39,683,469 (GRCm39) |
I209T |
probably benign |
Het |
| Paf1 |
T |
C |
7: 28,096,350 (GRCm39) |
|
probably null |
Het |
| Pcdhb1 |
G |
T |
18: 37,399,026 (GRCm39) |
G326C |
probably damaging |
Het |
| Plcl1 |
A |
G |
1: 55,737,098 (GRCm39) |
Y813C |
possibly damaging |
Het |
| Pramel25 |
T |
C |
4: 143,521,710 (GRCm39) |
I442T |
possibly damaging |
Het |
| Prkcq |
T |
C |
2: 11,251,604 (GRCm39) |
|
probably benign |
Het |
| Proser3 |
G |
T |
7: 30,242,924 (GRCm39) |
P218T |
probably damaging |
Het |
| Rccd1 |
G |
A |
7: 79,970,419 (GRCm39) |
S66F |
probably benign |
Het |
| Recql |
G |
T |
6: 142,323,932 (GRCm39) |
S54* |
probably null |
Het |
| Samd15 |
G |
T |
12: 87,247,534 (GRCm39) |
G73V |
probably benign |
Het |
| Siglec1 |
T |
C |
2: 130,923,359 (GRCm39) |
N462S |
probably benign |
Het |
| Syne2 |
G |
T |
12: 75,977,439 (GRCm39) |
A1296S |
probably damaging |
Het |
| Tlk1 |
T |
C |
2: 70,552,045 (GRCm39) |
E542G |
possibly damaging |
Het |
| Tnks1bp1 |
C |
T |
2: 84,892,755 (GRCm39) |
T232I |
probably benign |
Het |
| Tnrc6c |
T |
A |
11: 117,651,564 (GRCm39) |
Y1696N |
probably damaging |
Het |
| Uggt1 |
A |
G |
1: 36,201,434 (GRCm39) |
I1102T |
probably benign |
Het |
| Vmn1r84 |
C |
T |
7: 12,095,884 (GRCm39) |
V270M |
probably damaging |
Het |
| Wasf1 |
C |
T |
10: 40,812,191 (GRCm39) |
P327S |
unknown |
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 |
|
IGL02488:Gtdc1
|
APN |
2 |
44,715,451 (GRCm39) |
missense |
probably benign |
0.38 |
|
IGL02835:Gtdc1
|
UTSW |
2 |
44,646,324 (GRCm39) |
nonsense |
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTCAAAGCTGGCGACACACTTG -3'
(R):5'- AGCCTCAATGACCTTCCTCAGAGC -3'
Sequencing Primer
(F):5'- CTGGCGACACACTTGATTTATG -3'
(R):5'- GGAAGTCATAAACCTTCTATCCTCTG -3'
|
| Posted On |
2013-09-03 |
Incidental Mutation