Incidental Mutation 'IGL02146:Galnt4'
| ID |
281772 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Galnt4
|
| Ensembl Gene |
ENSMUSG00000090035 |
| Gene Name |
polypeptide N-acetylgalactosaminyltransferase 4 |
| Synonyms |
ppGaNTase-T4 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02146
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
98944021-98949109 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 98945563 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Asparagine
at position 429
(K429N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125315
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020113]
[ENSMUST00000159228]
[ENSMUST00000159990]
[ENSMUST00000161240]
[ENSMUST00000219884]
|
| AlphaFold |
O08832 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020113
|
| SMART Domains |
Protein: ENSMUSP00000020113
Gene: ENSMUSG00000019952
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
7 |
46 |
1.71e-7 |
SMART |
|
WD40
|
49 |
88 |
8.68e-9 |
SMART |
|
WD40
|
91 |
130 |
2.71e-10 |
SMART |
|
WD40
|
133 |
172 |
2.43e-12 |
SMART |
|
WD40
|
175 |
214 |
2.07e-6 |
SMART |
|
WD40
|
217 |
256 |
1.71e-7 |
SMART |
|
WD40
|
259 |
298 |
7.55e-9 |
SMART |
|
coiled coil region
|
428 |
468 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159228
|
| SMART Domains |
Protein: ENSMUSP00000124144
Gene: ENSMUSG00000019952
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
7 |
46 |
1.71e-7 |
SMART |
|
WD40
|
49 |
88 |
8.68e-9 |
SMART |
|
WD40
|
91 |
130 |
2.71e-10 |
SMART |
|
WD40
|
133 |
172 |
2.43e-12 |
SMART |
|
WD40
|
175 |
214 |
2.07e-6 |
SMART |
|
WD40
|
217 |
256 |
1.71e-7 |
SMART |
|
WD40
|
259 |
298 |
7.55e-9 |
SMART |
|
coiled coil region
|
401 |
441 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159990
|
| SMART Domains |
Protein: ENSMUSP00000125423
Gene: ENSMUSG00000019952
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
7 |
46 |
8.68e-9 |
SMART |
|
WD40
|
49 |
88 |
2.71e-10 |
SMART |
|
WD40
|
91 |
130 |
2.43e-12 |
SMART |
|
WD40
|
133 |
172 |
2.07e-6 |
SMART |
|
WD40
|
175 |
214 |
1.71e-7 |
SMART |
|
WD40
|
217 |
256 |
7.55e-9 |
SMART |
|
coiled coil region
|
386 |
426 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000161240
AA Change: K429N
PolyPhen 2
Score 0.873 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000125315
Gene: ENSMUSG00000090035
AA Change: K429N
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
13 |
35 |
N/A |
INTRINSIC |
|
Pfam:Glyco_tranf_2_3
|
135 |
382 |
4.7e-10 |
PFAM |
|
Pfam:Glycos_transf_2
|
138 |
321 |
7.5e-38 |
PFAM |
|
Pfam:Glyco_tranf_2_2
|
138 |
368 |
1e-7 |
PFAM |
|
Pfam:Glyco_transf_7C
|
298 |
367 |
4.5e-10 |
PFAM |
|
low complexity region
|
411 |
420 |
N/A |
INTRINSIC |
|
RICIN
|
445 |
577 |
2.39e-29 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218379
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219884
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220019
|
| 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. In vitro, the encoded protein can complement other GalNAc-Ts in the complete O-glycosylation of the mucin-1 tandem repeat and can O-glycosylate the P-selectin glycoprotein ligand-1 molecule. The coding region of this gene is contained within a single exon. Fusion transcripts, which combine part of this gene with the 5' exons of the neighboring POC1B (POC1 centriolar protein homolog B) gene, also exist. [provided by RefSeq, Dec 2010]
PHENOTYPE: An unpublished knockout mutation is reported to have no overt phenotypic consequences. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(1) : Targeted, knock-out(1) |
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700017B05Rik |
A |
G |
9: 57,164,023 (GRCm39) |
C784R |
possibly damaging |
Het |
| Akp3 |
A |
T |
1: 87,054,297 (GRCm39) |
D278V |
probably benign |
Het |
| Atxn7l1 |
G |
T |
12: 33,418,030 (GRCm39) |
R730S |
probably benign |
Het |
| Bag6 |
A |
G |
17: 35,355,191 (GRCm39) |
T30A |
probably damaging |
Het |
| Blk |
G |
T |
14: 63,611,648 (GRCm39) |
P429H |
probably damaging |
Het |
| Bmp2k |
T |
A |
5: 97,212,689 (GRCm39) |
M524K |
unknown |
Het |
| Bst1 |
T |
A |
5: 43,983,678 (GRCm39) |
H221Q |
probably damaging |
Het |
| Ces2g |
T |
C |
8: 105,693,576 (GRCm39) |
I419T |
possibly damaging |
Het |
| Cnep1r1 |
T |
C |
8: 88,856,326 (GRCm39) |
V34A |
probably benign |
Het |
| Ctnnbl1 |
A |
G |
2: 157,661,414 (GRCm39) |
E308G |
probably damaging |
Het |
| Cyp20a1 |
A |
T |
1: 60,410,410 (GRCm39) |
K237I |
possibly damaging |
Het |
| Dlg5 |
T |
C |
14: 24,252,429 (GRCm39) |
T104A |
probably damaging |
Het |
| Dnaaf11 |
C |
T |
15: 66,361,374 (GRCm39) |
W42* |
probably null |
Het |
| Dnaaf11 |
C |
A |
15: 66,361,375 (GRCm39) |
W42L |
probably benign |
Het |
| Dnah9 |
C |
T |
11: 65,818,526 (GRCm39) |
V3271M |
probably damaging |
Het |
| Eed |
T |
A |
7: 89,618,803 (GRCm39) |
N204Y |
possibly damaging |
Het |
| Fat3 |
A |
G |
9: 15,910,878 (GRCm39) |
V1708A |
probably benign |
Het |
| Fcrl6 |
T |
C |
1: 172,426,264 (GRCm39) |
T178A |
probably benign |
Het |
| Ints6 |
T |
A |
14: 62,996,709 (GRCm39) |
T94S |
possibly damaging |
Het |
| Iqsec3 |
A |
T |
6: 121,360,916 (GRCm39) |
S981T |
probably damaging |
Het |
| Itga9 |
T |
A |
9: 118,663,400 (GRCm39) |
S146T |
possibly damaging |
Het |
| Itpr3 |
A |
G |
17: 27,336,249 (GRCm39) |
Y2325C |
probably damaging |
Het |
| Kng2 |
T |
A |
16: 22,806,582 (GRCm39) |
Q539L |
probably damaging |
Het |
| Lmtk3 |
T |
A |
7: 45,444,371 (GRCm39) |
|
probably benign |
Het |
| Map1a |
T |
C |
2: 121,129,927 (GRCm39) |
Y248H |
probably damaging |
Het |
| Mroh1 |
A |
G |
15: 76,318,879 (GRCm39) |
|
probably benign |
Het |
| Mroh2b |
T |
C |
15: 4,980,776 (GRCm39) |
|
probably null |
Het |
| Myo18b |
A |
T |
5: 112,991,151 (GRCm39) |
M942K |
probably damaging |
Het |
| Myzap |
T |
A |
9: 71,471,730 (GRCm39) |
T94S |
probably benign |
Het |
| Nebl |
C |
A |
2: 17,353,679 (GRCm39) |
R957S |
probably damaging |
Het |
| Nexn |
A |
T |
3: 151,952,885 (GRCm39) |
D278E |
probably benign |
Het |
| Nlgn1 |
A |
T |
3: 25,966,846 (GRCm39) |
N222K |
probably damaging |
Het |
| Or6c76 |
T |
A |
10: 129,612,727 (GRCm39) |
|
probably benign |
Het |
| Or8d1 |
G |
A |
9: 38,766,654 (GRCm39) |
A99T |
probably benign |
Het |
| Osbpl6 |
A |
T |
2: 76,380,094 (GRCm39) |
R79S |
possibly damaging |
Het |
| Phip |
T |
C |
9: 82,763,771 (GRCm39) |
I1268M |
probably benign |
Het |
| Pkd2 |
G |
T |
5: 104,637,157 (GRCm39) |
R590L |
probably damaging |
Het |
| Reg2 |
G |
A |
6: 78,382,568 (GRCm39) |
|
probably benign |
Het |
| Scaf1 |
A |
T |
7: 44,662,934 (GRCm39) |
D26E |
probably damaging |
Het |
| Ska1 |
A |
G |
18: 74,329,981 (GRCm39) |
I253T |
possibly damaging |
Het |
| Slc11a2 |
T |
C |
15: 100,299,169 (GRCm39) |
N443D |
probably damaging |
Het |
| Slc6a12 |
A |
T |
6: 121,330,460 (GRCm39) |
T155S |
probably benign |
Het |
| Slit3 |
A |
G |
11: 35,125,675 (GRCm39) |
K118R |
possibly damaging |
Het |
| Snap23 |
T |
G |
2: 120,429,792 (GRCm39) |
N212K |
probably damaging |
Het |
| Snx13 |
T |
A |
12: 35,151,078 (GRCm39) |
D346E |
probably benign |
Het |
| Sumf1 |
C |
A |
6: 108,150,392 (GRCm39) |
|
probably null |
Het |
| Susd2 |
T |
C |
10: 75,474,267 (GRCm39) |
N479S |
possibly damaging |
Het |
| Tiam1 |
A |
G |
16: 89,646,569 (GRCm39) |
I821T |
probably benign |
Het |
| Tll2 |
C |
A |
19: 41,086,276 (GRCm39) |
V651L |
probably benign |
Het |
| Vmn2r1 |
A |
G |
3: 64,012,104 (GRCm39) |
D655G |
probably benign |
Het |
| Vmn2r72 |
T |
C |
7: 85,387,170 (GRCm39) |
Y798C |
probably damaging |
Het |
| Vps13b |
A |
C |
15: 35,646,479 (GRCm39) |
I1528L |
probably benign |
Het |
| Wdtc1 |
G |
A |
4: 133,029,076 (GRCm39) |
L337F |
probably benign |
Het |
| Zfp128 |
A |
C |
7: 12,623,959 (GRCm39) |
K109T |
possibly damaging |
Het |
|
| Other mutations in Galnt4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01359:Galnt4
|
APN |
10 |
98,945,459 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01725:Galnt4
|
APN |
10 |
98,945,819 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01871:Galnt4
|
APN |
10 |
98,945,103 (GRCm39) |
missense |
probably damaging |
1.00 |
|
3-1:Galnt4
|
UTSW |
10 |
98,945,127 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0041:Galnt4
|
UTSW |
10 |
98,944,374 (GRCm39) |
missense |
probably benign |
0.08 |
|
R1318:Galnt4
|
UTSW |
10 |
98,945,772 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1466:Galnt4
|
UTSW |
10 |
98,944,571 (GRCm39) |
missense |
probably benign |
0.43 |
|
R1466:Galnt4
|
UTSW |
10 |
98,944,571 (GRCm39) |
missense |
probably benign |
0.43 |
|
R1471:Galnt4
|
UTSW |
10 |
98,944,536 (GRCm39) |
missense |
probably benign |
|
|
R1633:Galnt4
|
UTSW |
10 |
98,945,814 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R2088:Galnt4
|
UTSW |
10 |
98,945,046 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2197:Galnt4
|
UTSW |
10 |
98,944,509 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2363:Galnt4
|
UTSW |
10 |
98,944,923 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2507:Galnt4
|
UTSW |
10 |
98,945,148 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R3104:Galnt4
|
UTSW |
10 |
98,945,243 (GRCm39) |
missense |
probably benign |
0.10 |
|
R3106:Galnt4
|
UTSW |
10 |
98,945,243 (GRCm39) |
missense |
probably benign |
0.10 |
|
R4599:Galnt4
|
UTSW |
10 |
98,945,355 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4670:Galnt4
|
UTSW |
10 |
98,945,160 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R4756:Galnt4
|
UTSW |
10 |
98,944,362 (GRCm39) |
missense |
probably benign |
|
|
R5660:Galnt4
|
UTSW |
10 |
98,945,397 (GRCm39) |
missense |
probably benign |
0.16 |
|
R5819:Galnt4
|
UTSW |
10 |
98,945,892 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6441:Galnt4
|
UTSW |
10 |
98,945,960 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7184:Galnt4
|
UTSW |
10 |
98,944,466 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7429:Galnt4
|
UTSW |
10 |
98,945,610 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7685:Galnt4
|
UTSW |
10 |
98,945,826 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7788:Galnt4
|
UTSW |
10 |
98,944,975 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8192:Galnt4
|
UTSW |
10 |
98,945,118 (GRCm39) |
missense |
probably benign |
0.29 |
|
R8896:Galnt4
|
UTSW |
10 |
98,945,955 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2015-04-16 |
Incidental Mutation