Incidental Mutation 'IGL01586:Gbgt1'
ID |
91794 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Gbgt1
|
Ensembl Gene |
ENSMUSG00000026829 |
Gene Name |
globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL01586
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
28386903-28395427 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 28387842 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 22
(V22A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000127071
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028172]
[ENSMUST00000163121]
|
AlphaFold |
Q8VI38 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000028172
AA Change: V22A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000028172 Gene: ENSMUSG00000026829 AA Change: V22A
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 |
noncoding transcript
Transcript: ENSMUST00000127958
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000163121
AA Change: V22A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000127071 Gene: ENSMUSG00000026829 AA Change: V22A
Domain | Start | End | E-Value | Type |
Pfam:Glyco_transf_6
|
11 |
347 |
1.9e-152 |
PFAM |
|
Coding Region Coverage |
|
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: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9830107B12Rik |
A |
T |
17: 48,439,125 (GRCm39) |
Y144N |
unknown |
Het |
Abca9 |
A |
C |
11: 110,045,243 (GRCm39) |
C363W |
probably damaging |
Het |
Acmsd |
G |
A |
1: 127,687,447 (GRCm39) |
R243H |
probably damaging |
Het |
Adam33 |
T |
C |
2: 130,895,970 (GRCm39) |
T490A |
probably damaging |
Het |
Ank1 |
A |
G |
8: 23,610,928 (GRCm39) |
D1411G |
probably benign |
Het |
Arhgap39 |
T |
C |
15: 76,614,638 (GRCm39) |
E842G |
probably benign |
Het |
Asgr2 |
T |
C |
11: 69,996,193 (GRCm39) |
|
probably benign |
Het |
Bbs9 |
T |
C |
9: 22,557,293 (GRCm39) |
V14A |
possibly damaging |
Het |
Cer1 |
A |
G |
4: 82,803,080 (GRCm39) |
S81P |
probably damaging |
Het |
Cln6 |
T |
A |
9: 62,751,900 (GRCm39) |
H41Q |
probably damaging |
Het |
Dock1 |
A |
G |
7: 134,355,106 (GRCm39) |
D334G |
probably damaging |
Het |
Dpy19l2 |
A |
G |
9: 24,578,271 (GRCm39) |
I261T |
probably benign |
Het |
Fhod3 |
T |
G |
18: 25,223,804 (GRCm39) |
I1050S |
probably damaging |
Het |
Izumo3 |
A |
G |
4: 92,034,532 (GRCm39) |
|
probably null |
Het |
Kif11 |
T |
C |
19: 37,372,681 (GRCm39) |
|
probably benign |
Het |
Krt1c |
C |
A |
15: 101,719,825 (GRCm39) |
G615V |
unknown |
Het |
Midn |
A |
G |
10: 79,992,477 (GRCm39) |
|
probably benign |
Het |
Mier1 |
C |
T |
4: 103,012,769 (GRCm39) |
T342I |
probably damaging |
Het |
Mycbp2 |
A |
T |
14: 103,378,305 (GRCm39) |
|
probably null |
Het |
Nrp1 |
A |
T |
8: 129,158,513 (GRCm39) |
S267C |
possibly damaging |
Het |
Or8b8 |
A |
G |
9: 37,809,272 (GRCm39) |
T191A |
possibly damaging |
Het |
Pcdh20 |
A |
T |
14: 88,708,344 (GRCm39) |
M28K |
probably benign |
Het |
Prmt5 |
G |
A |
14: 54,747,408 (GRCm39) |
|
probably benign |
Het |
Psmg2 |
G |
A |
18: 67,786,293 (GRCm39) |
V218I |
probably benign |
Het |
Rps6ka5 |
T |
C |
12: 100,537,173 (GRCm39) |
E519G |
probably damaging |
Het |
Samm50 |
T |
A |
15: 84,080,039 (GRCm39) |
I39N |
probably benign |
Het |
Shc2 |
A |
T |
10: 79,458,138 (GRCm39) |
M515K |
probably damaging |
Het |
Sorbs2 |
T |
A |
8: 46,248,631 (GRCm39) |
F608L |
probably damaging |
Het |
Sos2 |
T |
C |
12: 69,654,172 (GRCm39) |
K727E |
probably damaging |
Het |
Sox13 |
A |
T |
1: 133,317,182 (GRCm39) |
H150Q |
possibly damaging |
Het |
Tmem132e |
T |
C |
11: 82,325,495 (GRCm39) |
V165A |
probably damaging |
Het |
Trmt11 |
T |
C |
10: 30,473,747 (GRCm39) |
T43A |
probably benign |
Het |
Tyrp1 |
G |
T |
4: 80,763,135 (GRCm39) |
V341L |
probably benign |
Het |
Ugt2b35 |
C |
A |
5: 87,159,250 (GRCm39) |
H481Q |
probably benign |
Het |
Zzz3 |
T |
A |
3: 152,161,476 (GRCm39) |
I290N |
possibly 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 |
|
R0031:Gbgt1
|
UTSW |
2 |
28,388,462 (GRCm39) |
splice site |
probably benign |
|
R0693:Gbgt1
|
UTSW |
2 |
28,394,842 (GRCm39) |
missense |
probably damaging |
0.99 |
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 |
|
|
Posted On |
2013-12-09 |