Incidental Mutation 'IGL02946:Galnt3'
ID |
364728 |
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 # |
IGL02946
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
65913110-65955217 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 65925562 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Leucine
at position 392
(I392L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000028378
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028378]
|
AlphaFold |
P70419 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000028378
AA Change: I392L
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000028378 Gene: ENSMUSG00000026994 AA Change: I392L
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: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca8a |
G |
A |
11: 109,919,041 (GRCm39) |
|
probably benign |
Het |
Actr3b |
T |
C |
5: 26,053,481 (GRCm39) |
I270T |
possibly damaging |
Het |
Adgrf2 |
T |
C |
17: 43,021,384 (GRCm39) |
Y480C |
probably damaging |
Het |
Arhgap27 |
T |
C |
11: 103,229,174 (GRCm39) |
T514A |
probably damaging |
Het |
BC031181 |
C |
T |
18: 75,141,736 (GRCm39) |
|
probably benign |
Het |
Cckbr |
C |
T |
7: 105,083,238 (GRCm39) |
A147V |
probably damaging |
Het |
Ccm2 |
G |
A |
11: 6,546,195 (GRCm39) |
R335H |
probably damaging |
Het |
Ces1d |
C |
A |
8: 93,896,346 (GRCm39) |
|
probably null |
Het |
Crabp1 |
T |
C |
9: 54,672,232 (GRCm39) |
F16S |
possibly damaging |
Het |
Crmp1 |
C |
T |
5: 37,441,424 (GRCm39) |
A502V |
probably damaging |
Het |
Ehhadh |
A |
T |
16: 21,581,672 (GRCm39) |
V440D |
probably damaging |
Het |
Gm12689 |
T |
A |
4: 99,184,490 (GRCm39) |
N114K |
unknown |
Het |
Hspa2 |
A |
G |
12: 76,451,947 (GRCm39) |
T214A |
probably damaging |
Het |
Itga7 |
T |
C |
10: 128,769,952 (GRCm39) |
I32T |
probably benign |
Het |
Itgal |
A |
G |
7: 126,913,540 (GRCm39) |
S682G |
probably damaging |
Het |
Kctd1 |
C |
T |
18: 15,107,036 (GRCm39) |
|
probably null |
Het |
Lrp1b |
T |
A |
2: 41,202,571 (GRCm39) |
D439V |
probably damaging |
Het |
Mdn1 |
A |
G |
4: 32,734,366 (GRCm39) |
K3258E |
probably damaging |
Het |
Mgat4c |
T |
C |
10: 102,225,114 (GRCm39) |
S443P |
probably benign |
Het |
Mylk |
G |
A |
16: 34,742,158 (GRCm39) |
G890E |
probably benign |
Het |
Mylk2 |
T |
A |
2: 152,761,130 (GRCm39) |
L446* |
probably null |
Het |
Niban1 |
A |
T |
1: 151,525,176 (GRCm39) |
I194F |
probably damaging |
Het |
Or2t26 |
T |
G |
11: 49,039,719 (GRCm39) |
F212V |
probably damaging |
Het |
Pi4k2b |
T |
C |
5: 52,910,549 (GRCm39) |
F278L |
probably damaging |
Het |
Pitpnm3 |
A |
G |
11: 71,983,378 (GRCm39) |
S84P |
probably benign |
Het |
Plxna2 |
T |
C |
1: 194,431,617 (GRCm39) |
|
probably benign |
Het |
Prr5l |
C |
A |
2: 101,602,529 (GRCm39) |
|
probably null |
Het |
Ptprs |
T |
C |
17: 56,731,032 (GRCm39) |
T719A |
probably benign |
Het |
Rasa3 |
T |
C |
8: 13,648,280 (GRCm39) |
H128R |
probably benign |
Het |
Rhox13 |
A |
G |
X: 37,218,652 (GRCm39) |
K205E |
probably damaging |
Het |
Rif1 |
C |
A |
2: 52,000,137 (GRCm39) |
S1197* |
probably null |
Het |
Sgta |
A |
G |
10: 80,885,612 (GRCm39) |
|
probably benign |
Het |
Slc25a5 |
T |
A |
X: 36,061,506 (GRCm39) |
M239K |
probably damaging |
Het |
Stil |
T |
A |
4: 114,887,110 (GRCm39) |
H734Q |
probably benign |
Het |
Stk32b |
T |
C |
5: 37,688,883 (GRCm39) |
|
probably benign |
Het |
Ubr4 |
T |
G |
4: 139,152,606 (GRCm39) |
F1999C |
probably damaging |
Het |
Wfdc2 |
A |
C |
2: 164,406,009 (GRCm39) |
T86P |
probably benign |
Het |
Zfp407 |
T |
C |
18: 84,578,834 (GRCm39) |
S760G |
probably damaging |
Het |
Zfp668 |
A |
T |
7: 127,465,690 (GRCm39) |
L498Q |
possibly damaging |
Het |
|
Other mutations in Galnt3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00479:Galnt3
|
APN |
2 |
65,925,628 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
|
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 |
2015-12-18 |