Incidental Mutation 'IGL00479:Galnt3'
ID |
7182 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Galnt3
|
Ensembl Gene |
ENSMUSG00000026994 |
Gene Name |
polypeptide N-acetylgalactosaminyltransferase 3 |
Synonyms |
ppGaNTase-T3 |
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.380)
|
Stock # |
IGL00479
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
65913110-65955217 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 65925628 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 370
(S370P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000028378
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028378]
|
AlphaFold |
P70419 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000028378
AA Change: S370P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000028378 Gene: ENSMUSG00000026994 AA Change: S370P
Domain | Start | End | E-Value | Type |
transmembrane domain
|
20 |
37 |
N/A |
INTRINSIC |
coiled coil region
|
44 |
75 |
N/A |
INTRINSIC |
Pfam:Glyco_tranf_2_3
|
185 |
440 |
8.3e-10 |
PFAM |
Pfam:Glycos_transf_2
|
188 |
374 |
1.2e-35 |
PFAM |
Pfam:Glyco_transf_7C
|
345 |
423 |
7.7e-14 |
PFAM |
RICIN
|
506 |
630 |
2.71e-28 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150793
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153563
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155453
|
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 UDP-GalNAc transferase 3, a member of the GalNAc-transferases family. This family transfers an N-acetyl galactosamine to the hydroxyl group of a serine or threonine residue in the first step of O-linked oligosaccharide biosynthesis. Individual GalNAc-transferases have distinct activities and initiation of O-glycosylation is regulated by a repertoire of GalNAc-transferases. The protein encoded by this gene is highly homologous to other family members, however the enzymes have different substrate specificities. [provided by RefSeq, Jul 2008] PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased circulating alkaline phosphatase, hypercalcemia, hyperphosphatemia, decreased circulating parathyroid hormone, and male specific postnatal growth retardation, infertility, and increase in bone density. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 27 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Agrn |
A |
C |
4: 156,255,029 (GRCm39) |
|
probably benign |
Het |
Antkmt |
A |
G |
17: 26,010,418 (GRCm39) |
Y104H |
probably damaging |
Het |
Arid4a |
A |
G |
12: 71,119,367 (GRCm39) |
K651E |
probably damaging |
Het |
Atpaf2 |
A |
T |
11: 60,300,410 (GRCm39) |
|
probably null |
Het |
Cd177 |
G |
T |
7: 24,457,440 (GRCm39) |
S200R |
probably benign |
Het |
Cd209g |
A |
T |
8: 4,185,622 (GRCm39) |
T19S |
probably benign |
Het |
Cxcr4 |
A |
G |
1: 128,516,792 (GRCm39) |
W290R |
probably damaging |
Het |
D930020B18Rik |
T |
C |
10: 121,521,489 (GRCm39) |
L491P |
probably damaging |
Het |
Dnah7a |
T |
C |
1: 53,458,843 (GRCm39) |
D3765G |
probably damaging |
Het |
Dpy19l4 |
T |
G |
4: 11,290,411 (GRCm39) |
M327L |
probably benign |
Het |
Eya3 |
G |
A |
4: 132,431,709 (GRCm39) |
G314D |
probably damaging |
Het |
Fmo1 |
G |
A |
1: 162,657,632 (GRCm39) |
T503I |
probably benign |
Het |
Gm5431 |
A |
T |
11: 48,786,241 (GRCm39) |
S45T |
probably benign |
Het |
Gnai3 |
A |
G |
3: 108,023,073 (GRCm39) |
|
probably benign |
Het |
Gpat2 |
A |
G |
2: 127,276,381 (GRCm39) |
E637G |
probably damaging |
Het |
Gpr84 |
T |
C |
15: 103,217,834 (GRCm39) |
Y81C |
probably damaging |
Het |
Hnmt |
A |
T |
2: 23,893,896 (GRCm39) |
Y199* |
probably null |
Het |
Homer1 |
G |
T |
13: 93,483,156 (GRCm39) |
R81L |
probably damaging |
Het |
Hspa4 |
A |
T |
11: 53,171,544 (GRCm39) |
|
probably null |
Het |
Marchf6 |
A |
G |
15: 31,475,909 (GRCm39) |
I649T |
probably benign |
Het |
Mcm8 |
A |
G |
2: 132,659,094 (GRCm39) |
N26S |
probably benign |
Het |
Mgat5 |
T |
C |
1: 127,315,204 (GRCm39) |
L310P |
probably damaging |
Het |
Pah |
T |
C |
10: 87,414,755 (GRCm39) |
L369P |
probably benign |
Het |
Parp4 |
A |
C |
14: 56,853,917 (GRCm39) |
K844N |
possibly damaging |
Het |
Tlr5 |
A |
G |
1: 182,801,394 (GRCm39) |
T233A |
probably benign |
Het |
Tsnaxip1 |
A |
G |
8: 106,568,055 (GRCm39) |
T274A |
probably benign |
Het |
Wdr48 |
A |
G |
9: 119,734,456 (GRCm39) |
Y125C |
probably damaging |
Het |
|
Other mutations in Galnt3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01563:Galnt3
|
APN |
2 |
65,928,101 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL01973:Galnt3
|
APN |
2 |
65,914,606 (GRCm39) |
missense |
probably benign |
0.03 |
IGL02004:Galnt3
|
APN |
2 |
65,926,270 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02424:Galnt3
|
APN |
2 |
65,926,132 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02946:Galnt3
|
APN |
2 |
65,925,562 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL03059:Galnt3
|
APN |
2 |
65,923,954 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4531001:Galnt3
|
UTSW |
2 |
65,937,432 (GRCm39) |
missense |
probably benign |
0.03 |
R0437:Galnt3
|
UTSW |
2 |
65,937,573 (GRCm39) |
missense |
possibly damaging |
0.74 |
R1390:Galnt3
|
UTSW |
2 |
65,921,567 (GRCm39) |
missense |
probably damaging |
1.00 |
R1536:Galnt3
|
UTSW |
2 |
65,914,550 (GRCm39) |
missense |
probably damaging |
1.00 |
R1869:Galnt3
|
UTSW |
2 |
65,928,123 (GRCm39) |
missense |
possibly damaging |
0.82 |
R2987:Galnt3
|
UTSW |
2 |
65,914,585 (GRCm39) |
missense |
probably benign |
0.00 |
R3973:Galnt3
|
UTSW |
2 |
65,937,374 (GRCm39) |
missense |
possibly damaging |
0.77 |
R4039:Galnt3
|
UTSW |
2 |
65,915,671 (GRCm39) |
missense |
probably damaging |
0.96 |
R4515:Galnt3
|
UTSW |
2 |
65,923,954 (GRCm39) |
missense |
probably damaging |
1.00 |
R4518:Galnt3
|
UTSW |
2 |
65,923,954 (GRCm39) |
missense |
probably damaging |
1.00 |
R4519:Galnt3
|
UTSW |
2 |
65,923,954 (GRCm39) |
missense |
probably damaging |
1.00 |
R4577:Galnt3
|
UTSW |
2 |
65,928,203 (GRCm39) |
missense |
probably benign |
0.02 |
R4817:Galnt3
|
UTSW |
2 |
65,923,883 (GRCm39) |
missense |
possibly damaging |
0.83 |
R5008:Galnt3
|
UTSW |
2 |
65,915,585 (GRCm39) |
missense |
probably benign |
0.04 |
R5191:Galnt3
|
UTSW |
2 |
65,924,050 (GRCm39) |
missense |
probably damaging |
1.00 |
R5947:Galnt3
|
UTSW |
2 |
65,914,500 (GRCm39) |
utr 3 prime |
probably benign |
|
R6534:Galnt3
|
UTSW |
2 |
65,932,875 (GRCm39) |
missense |
probably damaging |
1.00 |
R7196:Galnt3
|
UTSW |
2 |
65,921,268 (GRCm39) |
missense |
probably damaging |
1.00 |
R7817:Galnt3
|
UTSW |
2 |
65,926,243 (GRCm39) |
missense |
probably damaging |
1.00 |
R7951:Galnt3
|
UTSW |
2 |
65,928,186 (GRCm39) |
missense |
probably benign |
0.00 |
R7952:Galnt3
|
UTSW |
2 |
65,928,186 (GRCm39) |
missense |
probably benign |
0.00 |
R8071:Galnt3
|
UTSW |
2 |
65,921,555 (GRCm39) |
missense |
probably benign |
0.28 |
R8513:Galnt3
|
UTSW |
2 |
65,924,064 (GRCm39) |
nonsense |
probably null |
|
R8844:Galnt3
|
UTSW |
2 |
65,915,636 (GRCm39) |
missense |
probably benign |
|
|
Posted On |
2012-04-20 |