Incidental Mutation 'R0693:Gbgt1'
| ID |
63391 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gbgt1
|
| Ensembl Gene |
ENSMUSG00000026829 |
| Gene Name |
globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 |
| Synonyms |
|
| MMRRC Submission |
038878-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0693 (G1)
|
| Quality Score |
85 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
28386903-28395427 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 28394842 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Aspartic acid
at position 160
(G160D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127071
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028172]
[ENSMUST00000074761]
[ENSMUST00000163121]
|
| AlphaFold |
Q8VI38 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000028172
AA Change: G160D
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000028172
Gene: ENSMUSG00000026829
AA Change: G160D
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
7 |
24 |
N/A |
INTRINSIC |
|
Pfam:Glyco_transf_6
|
33 |
347 |
1.6e-154 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000074761
|
| SMART Domains |
Protein: ENSMUSP00000082978
Gene: ENSMUSG00000063611
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
5 |
27 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127958
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000163121
AA Change: G160D
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000127071
Gene: ENSMUSG00000026829
AA Change: G160D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glyco_transf_6
|
11 |
347 |
1.9e-152 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 94.8%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a glycosyltransferase that plays a role in the synthesis of Forssman glycolipid (FG), a member of the globoseries glycolipid family. Glycolipids such as FG form attachment sites for the binding of pathogens to cells; expression of this protein may determine host tropism to microorganisms. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgef12 |
A |
T |
9: 42,929,697 (GRCm39) |
N199K |
probably damaging |
Het |
| Ccnj |
T |
A |
19: 40,825,551 (GRCm39) |
L87H |
probably damaging |
Het |
| Cntn3 |
T |
C |
6: 102,145,908 (GRCm39) |
T978A |
possibly damaging |
Het |
| Garnl3 |
A |
G |
2: 32,975,919 (GRCm39) |
F16L |
probably damaging |
Het |
| Gm5114 |
T |
C |
7: 39,058,188 (GRCm39) |
D477G |
probably benign |
Het |
| Gp1ba |
T |
C |
11: 70,531,284 (GRCm39) |
|
probably benign |
Het |
| Inpp4b |
A |
T |
8: 82,723,943 (GRCm39) |
T492S |
probably benign |
Het |
| Islr2 |
T |
C |
9: 58,107,027 (GRCm39) |
T78A |
possibly damaging |
Het |
| Klhl9 |
T |
G |
4: 88,638,527 (GRCm39) |
K571N |
probably benign |
Het |
| Msl3l2 |
G |
A |
10: 55,991,947 (GRCm39) |
R224Q |
possibly damaging |
Het |
| Nfe2l3 |
A |
G |
6: 51,410,034 (GRCm39) |
T50A |
possibly damaging |
Het |
| Or7g32 |
G |
A |
9: 19,389,268 (GRCm39) |
Q90* |
probably null |
Het |
| Or8b40 |
A |
G |
9: 38,027,325 (GRCm39) |
T78A |
probably benign |
Het |
| Prkg1 |
T |
A |
19: 30,572,378 (GRCm39) |
Q426L |
probably benign |
Het |
| Rnf215 |
G |
A |
11: 4,090,401 (GRCm39) |
|
probably null |
Het |
| Sp100 |
T |
A |
1: 85,594,726 (GRCm39) |
|
probably null |
Het |
| Tbc1d21 |
G |
A |
9: 58,268,570 (GRCm39) |
T263M |
probably damaging |
Het |
| Tenm2 |
G |
A |
11: 35,915,636 (GRCm39) |
T1966M |
probably damaging |
Het |
| Tnni3k |
T |
C |
3: 154,667,609 (GRCm39) |
Y268C |
probably damaging |
Het |
| Usp34 |
A |
G |
11: 23,402,637 (GRCm39) |
T2477A |
probably damaging |
Het |
|
| Other mutations in Gbgt1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00586:Gbgt1
|
APN |
2 |
28,392,207 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL01586:Gbgt1
|
APN |
2 |
28,387,842 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0031:Gbgt1
|
UTSW |
2 |
28,388,462 (GRCm39) |
splice site |
probably benign |
|
|
R1623:Gbgt1
|
UTSW |
2 |
28,394,988 (GRCm39) |
missense |
probably benign |
0.38 |
|
R1739:Gbgt1
|
UTSW |
2 |
28,395,064 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R2221:Gbgt1
|
UTSW |
2 |
28,388,435 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4418:Gbgt1
|
UTSW |
2 |
28,388,420 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4674:Gbgt1
|
UTSW |
2 |
28,388,453 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R4675:Gbgt1
|
UTSW |
2 |
28,388,453 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R4926:Gbgt1
|
UTSW |
2 |
28,393,182 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5254:Gbgt1
|
UTSW |
2 |
28,395,220 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5341:Gbgt1
|
UTSW |
2 |
28,395,019 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5399:Gbgt1
|
UTSW |
2 |
28,393,230 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6562:Gbgt1
|
UTSW |
2 |
28,394,898 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6658:Gbgt1
|
UTSW |
2 |
28,394,998 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6830:Gbgt1
|
UTSW |
2 |
28,395,220 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7466:Gbgt1
|
UTSW |
2 |
28,392,219 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7636:Gbgt1
|
UTSW |
2 |
28,395,326 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7839:Gbgt1
|
UTSW |
2 |
28,393,182 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9803:Gbgt1
|
UTSW |
2 |
28,394,866 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Gbgt1
|
UTSW |
2 |
28,395,200 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TAGACTTCAGCGCATACTGGGGAC -3'
(R):5'- TTCCGGCGAGGTACAGCAAAATAG -3'
Sequencing Primer
(F):5'- CCAGGTACACCTGCTTCATTCA -3'
(R):5'- TGAATGGCAGCCACTAGATCC -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation