Incidental Mutation 'IGL01871:Galnt4'
ID |
178722 |
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 # |
IGL01871
|
Quality Score |
|
Status
|
|
Chromosome |
10 |
Chromosomal Location |
98944021-98949109 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 98945103 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Aspartic acid
at position 276
(G276D)
|
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: G276D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000125315 Gene: ENSMUSG00000090035 AA Change: G276D
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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrv1 |
A |
T |
13: 81,620,513 (GRCm39) |
|
probably null |
Het |
Aqp7 |
G |
A |
4: 41,045,321 (GRCm39) |
R20* |
probably null |
Het |
Asxl2 |
G |
T |
12: 3,552,112 (GRCm39) |
V1285L |
probably benign |
Het |
Bdp1 |
A |
T |
13: 100,202,561 (GRCm39) |
S688T |
probably benign |
Het |
Cc2d2a |
A |
T |
5: 43,846,311 (GRCm39) |
I357F |
probably damaging |
Het |
Clasp1 |
A |
T |
1: 118,498,619 (GRCm39) |
I884F |
probably damaging |
Het |
Cpne4 |
T |
G |
9: 104,802,956 (GRCm39) |
M200R |
possibly damaging |
Het |
Cyp2d10 |
T |
A |
15: 82,288,086 (GRCm39) |
D180V |
probably damaging |
Het |
Dicer1 |
A |
T |
12: 104,670,439 (GRCm39) |
V1042D |
probably damaging |
Het |
Dlc1 |
G |
A |
8: 37,317,334 (GRCm39) |
T447I |
probably damaging |
Het |
Efl1 |
T |
C |
7: 82,412,527 (GRCm39) |
M972T |
possibly damaging |
Het |
Erbin |
A |
G |
13: 103,971,274 (GRCm39) |
S781P |
probably damaging |
Het |
Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
Gmppa |
A |
G |
1: 75,413,661 (GRCm39) |
I41V |
probably damaging |
Het |
Golga1 |
C |
T |
2: 38,940,210 (GRCm39) |
|
probably benign |
Het |
H2-Ob |
G |
T |
17: 34,461,519 (GRCm39) |
W86L |
probably damaging |
Het |
Hnrnpr |
G |
A |
4: 136,066,885 (GRCm39) |
R482H |
unknown |
Het |
L2hgdh |
T |
C |
12: 69,768,869 (GRCm39) |
E81G |
probably damaging |
Het |
Mre11a |
T |
C |
9: 14,723,193 (GRCm39) |
V389A |
possibly damaging |
Het |
Mxra8 |
A |
G |
4: 155,927,258 (GRCm39) |
T372A |
probably benign |
Het |
Ncapg |
T |
A |
5: 45,845,923 (GRCm39) |
S593R |
probably benign |
Het |
Ndufaf1 |
C |
T |
2: 119,488,768 (GRCm39) |
W250* |
probably null |
Het |
Neb |
T |
C |
2: 52,043,081 (GRCm39) |
E6783G |
probably damaging |
Het |
Nmt2 |
T |
C |
2: 3,313,711 (GRCm39) |
Y175H |
probably damaging |
Het |
Olfml2b |
T |
C |
1: 170,489,924 (GRCm39) |
|
probably benign |
Het |
Pitpnm3 |
T |
A |
11: 71,946,964 (GRCm39) |
M812L |
probably damaging |
Het |
Pou2f3 |
A |
G |
9: 43,045,768 (GRCm39) |
|
probably benign |
Het |
Prkdc |
A |
G |
16: 15,600,951 (GRCm39) |
T2871A |
probably benign |
Het |
Rapgef4 |
A |
G |
2: 72,028,704 (GRCm39) |
T392A |
possibly damaging |
Het |
Rhov |
G |
T |
2: 119,101,219 (GRCm39) |
Q71K |
probably benign |
Het |
Slc22a15 |
T |
C |
3: 101,768,110 (GRCm39) |
|
probably benign |
Het |
Spaca1 |
T |
A |
4: 34,040,894 (GRCm39) |
N22Y |
probably damaging |
Het |
Stmnd1 |
A |
G |
13: 46,443,189 (GRCm39) |
E107G |
probably damaging |
Het |
Tent5b |
A |
G |
4: 133,213,620 (GRCm39) |
I164V |
possibly damaging |
Het |
Timm22 |
T |
C |
11: 76,298,263 (GRCm39) |
V78A |
probably damaging |
Het |
Usp47 |
T |
C |
7: 111,676,993 (GRCm39) |
|
probably benign |
Het |
Utp4 |
A |
C |
8: 107,638,949 (GRCm39) |
K419T |
probably benign |
Het |
Zfp410 |
T |
C |
12: 84,372,565 (GRCm39) |
|
probably null |
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 |
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 |
2014-05-07 |