Incidental Mutation 'IGL02998:Galnt1'
| ID |
407199 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Galnt1
|
| Ensembl Gene |
ENSMUSG00000000420 |
| Gene Name |
polypeptide N-acetylgalactosaminyltransferase 1 |
| Synonyms |
ppGaNTase-T1 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.911)
|
| Stock # |
IGL02998
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
24338401-24419873 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 24397469 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 190
(I190N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000137427
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000430]
[ENSMUST00000170243]
[ENSMUST00000171583]
[ENSMUST00000178605]
|
| AlphaFold |
O08912 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000000430
AA Change: I190N
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000000430
Gene: ENSMUSG00000000420
AA Change: I190N
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
7 |
29 |
N/A |
INTRINSIC |
|
Pfam:Glyco_tranf_2_3
|
116 |
369 |
3.2e-11 |
PFAM |
|
Pfam:Glycos_transf_2
|
119 |
303 |
3.1e-40 |
PFAM |
|
Pfam:Glyco_transf_7C
|
281 |
349 |
9.1e-10 |
PFAM |
|
RICIN
|
426 |
551 |
1.25e-32 |
SMART |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000164066
AA Change: D75E
|
| SMART Domains |
Protein: ENSMUSP00000130238
Gene: ENSMUSG00000000420
AA Change: D75E
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:2D7R|A
|
2 |
44 |
6e-6 |
PDB |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000170243
AA Change: I190N
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000132142
Gene: ENSMUSG00000000420
AA Change: I190N
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
7 |
29 |
N/A |
INTRINSIC |
|
Pfam:Glyco_tranf_2_3
|
116 |
369 |
1.7e-12 |
PFAM |
|
Pfam:Glycos_transf_2
|
119 |
303 |
9.2e-37 |
PFAM |
|
Pfam:Glyco_tranf_2_2
|
119 |
344 |
7.1e-7 |
PFAM |
|
Pfam:Glyco_transf_7C
|
281 |
349 |
1.4e-8 |
PFAM |
|
RICIN
|
426 |
551 |
1.25e-32 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171583
|
| SMART Domains |
Protein: ENSMUSP00000131755
Gene: ENSMUSG00000000420
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
10 |
29 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000178605
AA Change: I190N
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000137427
Gene: ENSMUSG00000000420
AA Change: I190N
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
7 |
29 |
N/A |
INTRINSIC |
|
Pfam:Glyco_tranf_2_3
|
116 |
369 |
1.7e-12 |
PFAM |
|
Pfam:Glycos_transf_2
|
119 |
303 |
9.2e-37 |
PFAM |
|
Pfam:Glyco_tranf_2_2
|
119 |
344 |
7.1e-7 |
PFAM |
|
Pfam:Glyco_transf_7C
|
281 |
349 |
1.4e-8 |
PFAM |
|
RICIN
|
426 |
551 |
1.25e-32 |
SMART |
|
| 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 member of the UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase (GalNAc-T) family of enzymes. GalNAc-Ts initiate mucin-type O-linked glycosylation in the Golgi apparatus by catalyzing the transfer of GalNAc to serine and threonine residues on target proteins. They are characterized by an N-terminal transmembrane domain, a stem region, a lumenal catalytic domain containing a GT1 motif and Gal/GalNAc transferase motif, and a C-terminal ricin/lectin-like domain. GalNAc-Ts have different, but overlapping, substrate specificities and patterns of expression. Transcript variants derived from this gene that utilize alternative polyA signals have been described in the literature. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit some embryonic lethality, increased bleeding time, decreased T and B cells, impaired leukocyte rolling, decreased IgG levels, and hypoalbuminemia. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrb2 |
C |
T |
4: 129,912,862 (GRCm39) |
A1329V |
probably benign |
Het |
| Bhlha9 |
G |
A |
11: 76,563,570 (GRCm39) |
A66T |
probably damaging |
Het |
| Dock10 |
G |
A |
1: 80,551,259 (GRCm39) |
R681W |
probably damaging |
Het |
| Dst |
T |
C |
1: 34,307,356 (GRCm39) |
L1433P |
probably damaging |
Het |
| Ercc6 |
A |
G |
14: 32,279,814 (GRCm39) |
I610V |
probably benign |
Het |
| Fras1 |
T |
C |
5: 96,850,040 (GRCm39) |
F1859S |
possibly damaging |
Het |
| Gad1 |
A |
G |
2: 70,420,163 (GRCm39) |
Y349C |
probably damaging |
Het |
| Gm28042 |
G |
A |
2: 119,870,635 (GRCm39) |
V768I |
possibly damaging |
Het |
| Gm8220 |
T |
C |
14: 44,525,765 (GRCm39) |
|
probably null |
Het |
| Higd1a |
A |
G |
9: 121,678,690 (GRCm39) |
|
probably benign |
Het |
| Itga4 |
T |
A |
2: 79,108,165 (GRCm39) |
Y206N |
possibly damaging |
Het |
| Itpk1 |
A |
G |
12: 102,545,398 (GRCm39) |
V235A |
probably damaging |
Het |
| Itpka |
A |
G |
2: 119,581,242 (GRCm39) |
Q425R |
possibly damaging |
Het |
| Kpna6 |
T |
A |
4: 129,549,297 (GRCm39) |
I162F |
probably benign |
Het |
| Msantd1 |
A |
G |
5: 35,078,768 (GRCm39) |
D101G |
probably damaging |
Het |
| Ntrk3 |
T |
C |
7: 78,227,405 (GRCm39) |
I43V |
probably damaging |
Het |
| Pias3 |
G |
A |
3: 96,609,495 (GRCm39) |
E271K |
probably damaging |
Het |
| Pparg |
A |
G |
6: 115,440,049 (GRCm39) |
I178V |
probably benign |
Het |
| Rxfp3 |
A |
T |
15: 11,037,054 (GRCm39) |
M106K |
probably damaging |
Het |
| Scn3b |
G |
A |
9: 40,199,713 (GRCm39) |
V210M |
possibly damaging |
Het |
| Shisa3 |
A |
G |
5: 67,765,848 (GRCm39) |
D33G |
possibly damaging |
Het |
| Suz12 |
T |
A |
11: 79,920,149 (GRCm39) |
W570R |
probably damaging |
Het |
| Vmn2r107 |
A |
T |
17: 20,578,017 (GRCm39) |
K442M |
probably damaging |
Het |
|
| Other mutations in Galnt1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01833:Galnt1
|
APN |
18 |
24,400,617 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02373:Galnt1
|
APN |
18 |
24,413,092 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
IGL03080:Galnt1
|
APN |
18 |
24,402,574 (GRCm39) |
missense |
probably damaging |
0.99 |
|
debonair
|
UTSW |
18 |
24,404,686 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0234:Galnt1
|
UTSW |
18 |
24,387,690 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0234:Galnt1
|
UTSW |
18 |
24,387,690 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0463:Galnt1
|
UTSW |
18 |
24,387,582 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1183:Galnt1
|
UTSW |
18 |
24,404,647 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1954:Galnt1
|
UTSW |
18 |
24,404,831 (GRCm39) |
splice site |
probably benign |
|
|
R2349:Galnt1
|
UTSW |
18 |
24,413,085 (GRCm39) |
missense |
probably benign |
0.03 |
|
R3739:Galnt1
|
UTSW |
18 |
24,404,712 (GRCm39) |
missense |
probably benign |
0.27 |
|
R4223:Galnt1
|
UTSW |
18 |
24,371,413 (GRCm39) |
missense |
probably benign |
0.27 |
|
R5001:Galnt1
|
UTSW |
18 |
24,404,812 (GRCm39) |
missense |
probably benign |
|
|
R5410:Galnt1
|
UTSW |
18 |
24,400,604 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5516:Galnt1
|
UTSW |
18 |
24,413,074 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5685:Galnt1
|
UTSW |
18 |
24,397,586 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R5687:Galnt1
|
UTSW |
18 |
24,405,807 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5735:Galnt1
|
UTSW |
18 |
24,397,577 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R6106:Galnt1
|
UTSW |
18 |
24,387,720 (GRCm39) |
missense |
probably benign |
0.31 |
|
R6222:Galnt1
|
UTSW |
18 |
24,397,591 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7448:Galnt1
|
UTSW |
18 |
24,417,866 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7489:Galnt1
|
UTSW |
18 |
24,415,214 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8310:Galnt1
|
UTSW |
18 |
24,404,686 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8408:Galnt1
|
UTSW |
18 |
24,400,628 (GRCm39) |
missense |
probably benign |
0.44 |
|
R8884:Galnt1
|
UTSW |
18 |
24,400,641 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8989:Galnt1
|
UTSW |
18 |
24,402,567 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
| Posted On |
2016-08-02 |
Incidental Mutation