Incidental Mutation 'IGL01833:Galnt1'
| ID |
154855 |
| 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: 0.893)
|
| Stock # |
IGL01833
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
24338401-24419873 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 24400617 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 241
(I241N)
|
| 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: I241N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000000430
Gene: ENSMUSG00000000420
AA Change: I241N
| 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 |
probably benign
Transcript: ENSMUST00000164066
|
| SMART Domains |
Protein: ENSMUSP00000130238
Gene: ENSMUSG00000000420
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:2D7R|A
|
2 |
44 |
6e-6 |
PDB |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000170243
AA Change: I241N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000132142
Gene: ENSMUSG00000000420
AA Change: I241N
| 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: I241N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000137427
Gene: ENSMUSG00000000420
AA Change: I241N
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsbg3 |
A |
G |
17: 57,188,062 (GRCm39) |
N190S |
probably benign |
Het |
| Adamts18 |
T |
A |
8: 114,469,728 (GRCm39) |
Y658F |
probably benign |
Het |
| Camsap3 |
T |
A |
8: 3,658,508 (GRCm39) |
L1151Q |
probably damaging |
Het |
| Casp14 |
T |
A |
10: 78,551,237 (GRCm39) |
Y16F |
probably damaging |
Het |
| Clip2 |
A |
T |
5: 134,526,938 (GRCm39) |
|
probably benign |
Het |
| Clip4 |
G |
A |
17: 72,134,785 (GRCm39) |
|
probably benign |
Het |
| Cyb5r4 |
G |
A |
9: 86,941,505 (GRCm39) |
|
probably null |
Het |
| Ep400 |
A |
T |
5: 110,827,874 (GRCm39) |
N2329K |
unknown |
Het |
| Fam163a |
T |
A |
1: 155,955,742 (GRCm39) |
I17F |
probably damaging |
Het |
| Galnt14 |
T |
G |
17: 73,811,899 (GRCm39) |
I441L |
probably benign |
Het |
| Gpr45 |
T |
C |
1: 43,071,402 (GRCm39) |
L15P |
probably benign |
Het |
| Hivep1 |
A |
T |
13: 42,308,464 (GRCm39) |
K235* |
probably null |
Het |
| Kcnip2 |
T |
C |
19: 45,782,746 (GRCm39) |
|
probably null |
Het |
| Kpna3 |
T |
C |
14: 61,607,894 (GRCm39) |
N437S |
possibly damaging |
Het |
| Lmtk2 |
A |
T |
5: 144,112,753 (GRCm39) |
R1158* |
probably null |
Het |
| Lpo |
A |
G |
11: 87,698,159 (GRCm39) |
V612A |
possibly damaging |
Het |
| Myh15 |
T |
C |
16: 48,934,421 (GRCm39) |
C663R |
probably damaging |
Het |
| Nacad |
G |
A |
11: 6,555,700 (GRCm39) |
R17C |
unknown |
Het |
| Or7a35 |
A |
T |
10: 78,853,770 (GRCm39) |
M205L |
probably benign |
Het |
| Pcsk2 |
A |
G |
2: 143,529,500 (GRCm39) |
Q99R |
possibly damaging |
Het |
| Pkd1l2 |
T |
C |
8: 117,787,264 (GRCm39) |
N593S |
probably benign |
Het |
| Plce1 |
G |
A |
19: 38,709,425 (GRCm39) |
S1093N |
probably damaging |
Het |
| Prxl2b |
G |
T |
4: 154,981,059 (GRCm39) |
|
probably benign |
Het |
| Rhpn2 |
T |
A |
7: 35,075,596 (GRCm39) |
Y258N |
probably benign |
Het |
| Serpinb9d |
T |
C |
13: 33,384,688 (GRCm39) |
Y222H |
probably damaging |
Het |
| Shprh |
T |
C |
10: 11,066,806 (GRCm39) |
L1401P |
probably damaging |
Het |
| Slc5a7 |
A |
G |
17: 54,588,861 (GRCm39) |
L262P |
probably damaging |
Het |
| Stat2 |
T |
G |
10: 128,117,045 (GRCm39) |
F293V |
probably benign |
Het |
| Stpg4 |
T |
A |
17: 87,702,585 (GRCm39) |
|
probably null |
Het |
| Styk1 |
G |
T |
6: 131,279,329 (GRCm39) |
|
probably benign |
Het |
| Sult2a2 |
T |
A |
7: 13,468,721 (GRCm39) |
D62E |
probably damaging |
Het |
| Sytl2 |
G |
A |
7: 90,045,745 (GRCm39) |
V632M |
probably damaging |
Het |
| Themis |
C |
T |
10: 28,658,307 (GRCm39) |
Q445* |
probably null |
Het |
| Tmem225 |
A |
T |
9: 40,059,725 (GRCm39) |
E35V |
probably damaging |
Het |
| Vmn1r48 |
T |
A |
6: 90,013,265 (GRCm39) |
T187S |
probably damaging |
Het |
| Xpnpep1 |
A |
G |
19: 52,988,824 (GRCm39) |
Y463H |
probably damaging |
Het |
|
| Other mutations in Galnt1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02373:Galnt1
|
APN |
18 |
24,413,092 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
IGL02998:Galnt1
|
APN |
18 |
24,397,469 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2014-02-04 |
Incidental Mutation