Incidental Mutation 'IGL03080:Galnt1'
| ID |
417814 |
| 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 # |
IGL03080
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
24338401-24419873 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 24402574 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 310
(D310E)
|
| 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: D310E
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000000430
Gene: ENSMUSG00000000420
AA Change: D310E
| 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: D310E
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000132142
Gene: ENSMUSG00000000420
AA Change: D310E
| 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: D310E
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000137427
Gene: ENSMUSG00000000420
AA Change: D310E
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abce1 |
T |
C |
8: 80,429,630 (GRCm39) |
|
probably null |
Het |
| Adgrf3 |
T |
C |
5: 30,401,827 (GRCm39) |
M734V |
probably benign |
Het |
| Aqp8 |
T |
G |
7: 123,065,802 (GRCm39) |
|
probably benign |
Het |
| Ces1d |
C |
A |
8: 93,896,346 (GRCm39) |
|
probably null |
Het |
| Cntn4 |
A |
G |
6: 106,632,500 (GRCm39) |
D508G |
probably damaging |
Het |
| Cyp11b1 |
A |
T |
15: 74,711,285 (GRCm39) |
|
probably null |
Het |
| Dnah8 |
A |
G |
17: 30,937,980 (GRCm39) |
D1619G |
probably benign |
Het |
| Eif1ad17 |
A |
T |
12: 87,978,615 (GRCm39) |
|
probably benign |
Het |
| Ephb4 |
T |
A |
5: 137,352,345 (GRCm39) |
|
probably benign |
Het |
| Ffar3 |
A |
T |
7: 30,554,747 (GRCm39) |
V191E |
probably damaging |
Het |
| Igf2r |
T |
C |
17: 12,945,563 (GRCm39) |
Y342C |
probably benign |
Het |
| Jade1 |
T |
A |
3: 41,554,510 (GRCm39) |
C251* |
probably null |
Het |
| Jhy |
T |
C |
9: 40,855,653 (GRCm39) |
E278G |
probably damaging |
Het |
| Kif24 |
A |
C |
4: 41,394,417 (GRCm39) |
S819A |
probably benign |
Het |
| Lrp8 |
T |
C |
4: 107,712,996 (GRCm39) |
L344P |
probably damaging |
Het |
| Lrrc27 |
A |
G |
7: 138,810,153 (GRCm39) |
T375A |
probably benign |
Het |
| Mbd3 |
C |
T |
10: 80,229,085 (GRCm39) |
R204Q |
probably damaging |
Het |
| Nab2 |
T |
C |
10: 127,500,663 (GRCm39) |
N143S |
possibly damaging |
Het |
| Nkiras2 |
T |
C |
11: 100,515,105 (GRCm39) |
|
probably null |
Het |
| Or7e174 |
A |
T |
9: 20,012,705 (GRCm39) |
I217F |
probably damaging |
Het |
| Palm |
C |
A |
10: 79,654,951 (GRCm39) |
H74Q |
probably damaging |
Het |
| Pros1 |
T |
A |
16: 62,738,506 (GRCm39) |
N408K |
probably damaging |
Het |
| Psg23 |
T |
A |
7: 18,340,910 (GRCm39) |
Y448F |
probably damaging |
Het |
| Ranbp2 |
C |
A |
10: 58,312,613 (GRCm39) |
P1111Q |
probably benign |
Het |
| Rims2 |
A |
G |
15: 39,399,299 (GRCm39) |
S1115G |
probably damaging |
Het |
| Scn7a |
T |
C |
2: 66,528,160 (GRCm39) |
T777A |
probably benign |
Het |
| Spata31h1 |
T |
C |
10: 82,119,816 (GRCm39) |
D428G |
probably damaging |
Het |
| Stard3nl |
A |
T |
13: 19,554,648 (GRCm39) |
|
probably null |
Het |
| Sult1d1 |
T |
C |
5: 87,704,847 (GRCm39) |
D214G |
probably benign |
Het |
| Tmprss12 |
T |
C |
15: 100,190,529 (GRCm39) |
W300R |
probably damaging |
Het |
| Tmprss2 |
T |
C |
16: 97,398,044 (GRCm39) |
Y44C |
probably damaging |
Het |
| Ttk |
A |
G |
9: 83,725,136 (GRCm39) |
N154D |
probably damaging |
Het |
| Tut4 |
T |
A |
4: 108,363,021 (GRCm39) |
S444R |
probably damaging |
Het |
| Tyw1 |
T |
C |
5: 130,295,896 (GRCm39) |
Y108H |
probably damaging |
Het |
| Vmn2r44 |
C |
A |
7: 8,386,244 (GRCm39) |
|
probably benign |
Het |
| Zfand1 |
A |
G |
3: 10,405,797 (GRCm39) |
*269Q |
probably null |
Het |
| Zfp142 |
A |
T |
1: 74,610,368 (GRCm39) |
D1039E |
probably benign |
Het |
| Zkscan5 |
G |
T |
5: 145,155,460 (GRCm39) |
S377I |
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 |
|
IGL02998:Galnt1
|
APN |
18 |
24,397,469 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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