Incidental Mutation 'IGL01359:Galnt4'
ID |
75659 |
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 # |
IGL01359
|
Quality Score |
|
Status
|
|
Chromosome |
10 |
Chromosomal Location |
98944021-98949109 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 98945459 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 395
(Y395H)
|
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 |
probably damaging
Transcript: ENSMUST00000161240
AA Change: Y395H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000125315 Gene: ENSMUSG00000090035 AA Change: Y395H
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: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrf1 |
G |
A |
17: 43,621,577 (GRCm39) |
E605K |
probably damaging |
Het |
Adgrl4 |
G |
A |
3: 151,248,923 (GRCm39) |
C737Y |
probably damaging |
Het |
Ankk1 |
A |
T |
9: 49,327,328 (GRCm39) |
I617N |
possibly damaging |
Het |
B3gat2 |
T |
C |
1: 23,802,301 (GRCm39) |
F196L |
probably damaging |
Het |
Bcl2l14 |
T |
A |
6: 134,400,828 (GRCm39) |
I83N |
probably damaging |
Het |
Bcr |
T |
C |
10: 74,995,611 (GRCm39) |
|
probably benign |
Het |
Ckmt2 |
A |
T |
13: 92,009,939 (GRCm39) |
I127N |
probably damaging |
Het |
Dhx33 |
G |
A |
11: 70,884,687 (GRCm39) |
Q40* |
probably null |
Het |
Dnah11 |
T |
C |
12: 117,946,734 (GRCm39) |
T3117A |
probably damaging |
Het |
Dnai2 |
A |
G |
11: 114,642,614 (GRCm39) |
Y405C |
probably benign |
Het |
Emc2 |
A |
G |
15: 43,375,145 (GRCm39) |
Y214C |
probably damaging |
Het |
Fbxw2 |
T |
C |
2: 34,712,762 (GRCm39) |
T100A |
probably benign |
Het |
Fkrp |
C |
T |
7: 16,545,415 (GRCm39) |
R149Q |
probably benign |
Het |
Fsd1l |
A |
G |
4: 53,659,601 (GRCm39) |
R153G |
possibly damaging |
Het |
Gk5 |
T |
C |
9: 96,019,842 (GRCm39) |
L126P |
probably damaging |
Het |
Gm973 |
A |
G |
1: 59,669,438 (GRCm39) |
S830G |
probably benign |
Het |
Gpc5 |
G |
A |
14: 115,607,162 (GRCm39) |
G255S |
possibly damaging |
Het |
Grk3 |
C |
A |
5: 113,085,626 (GRCm39) |
S370I |
probably damaging |
Het |
Herc1 |
A |
G |
9: 66,346,550 (GRCm39) |
D1972G |
probably benign |
Het |
Itih3 |
T |
A |
14: 30,639,729 (GRCm39) |
D364V |
probably damaging |
Het |
Lce1f |
G |
T |
3: 92,626,491 (GRCm39) |
C55* |
probably null |
Het |
Ltn1 |
A |
C |
16: 87,202,581 (GRCm39) |
|
probably benign |
Het |
Lyl1 |
C |
T |
8: 85,429,315 (GRCm39) |
A8V |
possibly damaging |
Het |
Mdn1 |
A |
G |
4: 32,743,686 (GRCm39) |
E3974G |
probably benign |
Het |
Msl3l2 |
T |
C |
10: 55,992,340 (GRCm39) |
V355A |
probably damaging |
Het |
Nadsyn1 |
T |
C |
7: 143,374,967 (GRCm39) |
I30V |
possibly damaging |
Het |
Nuggc |
T |
C |
14: 65,860,656 (GRCm39) |
V418A |
probably damaging |
Het |
Or4f57 |
A |
T |
2: 111,791,406 (GRCm39) |
M4K |
probably benign |
Het |
Or52e8 |
T |
C |
7: 104,625,193 (GRCm39) |
|
probably null |
Het |
Or52m2 |
A |
T |
7: 102,263,379 (GRCm39) |
H272Q |
probably benign |
Het |
Ppp4r3a |
T |
C |
12: 101,024,755 (GRCm39) |
E248G |
probably damaging |
Het |
Rab3gap2 |
T |
A |
1: 184,971,067 (GRCm39) |
V234E |
probably damaging |
Het |
Radil |
G |
A |
5: 142,529,468 (GRCm39) |
T105I |
probably damaging |
Het |
Saa4 |
A |
G |
7: 46,381,060 (GRCm39) |
W21R |
possibly damaging |
Het |
Sec62 |
G |
A |
3: 30,868,455 (GRCm39) |
S228N |
unknown |
Het |
Setd4 |
C |
T |
16: 93,388,127 (GRCm39) |
G120S |
probably damaging |
Het |
Sgpl1 |
G |
A |
10: 60,936,687 (GRCm39) |
T556I |
probably benign |
Het |
Slc14a2 |
T |
C |
18: 78,197,323 (GRCm39) |
D811G |
probably benign |
Het |
Slc26a11 |
A |
T |
11: 119,254,257 (GRCm39) |
M192L |
probably benign |
Het |
Spon1 |
A |
T |
7: 113,633,525 (GRCm39) |
Q656L |
probably damaging |
Het |
Tex15 |
A |
G |
8: 34,071,926 (GRCm39) |
D2491G |
probably damaging |
Het |
Tox |
T |
C |
4: 6,697,583 (GRCm39) |
T407A |
probably damaging |
Het |
Ubr5 |
A |
T |
15: 37,973,250 (GRCm39) |
I2611N |
probably damaging |
Het |
Usp25 |
G |
A |
16: 76,856,141 (GRCm39) |
A245T |
probably damaging |
Het |
Vwa8 |
C |
A |
14: 79,302,353 (GRCm39) |
Y1007* |
probably null |
Het |
Zfp423 |
T |
C |
8: 88,507,290 (GRCm39) |
H893R |
probably damaging |
Het |
Zfp507 |
A |
G |
7: 35,493,927 (GRCm39) |
I372T |
probably damaging |
Het |
|
Other mutations in Galnt4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
IGL02146:Galnt4
|
APN |
10 |
98,945,563 (GRCm39) |
missense |
possibly damaging |
0.87 |
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 |
2013-10-07 |