Incidental Mutation 'IGL01563:Galnt3'
| ID |
90903 |
| 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: 0.376)
|
| Stock # |
IGL01563
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
65913110-65955217 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 65928101 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 265
(A265V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028378
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028378]
|
| AlphaFold |
P70419 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000028378
AA Change: A265V
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000028378
Gene: ENSMUSG00000026994
AA Change: A265V
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alms1 |
A |
G |
6: 85,604,965 (GRCm39) |
E2205G |
probably damaging |
Het |
| Arid2 |
G |
A |
15: 96,270,278 (GRCm39) |
V1464I |
probably damaging |
Het |
| Axin2 |
A |
G |
11: 108,814,631 (GRCm39) |
Q173R |
probably damaging |
Het |
| Best1 |
A |
G |
19: 9,964,099 (GRCm39) |
F454L |
probably benign |
Het |
| CK137956 |
T |
G |
4: 127,864,428 (GRCm39) |
K67T |
possibly damaging |
Het |
| Col14a1 |
G |
A |
15: 55,351,337 (GRCm39) |
G1555R |
unknown |
Het |
| Csad |
G |
A |
15: 102,095,598 (GRCm39) |
S153F |
probably damaging |
Het |
| Cyp4f40 |
A |
T |
17: 32,892,930 (GRCm39) |
D315V |
probably damaging |
Het |
| Gm5901 |
C |
A |
7: 105,026,722 (GRCm39) |
Y163* |
probably null |
Het |
| Golga4 |
A |
G |
9: 118,356,074 (GRCm39) |
|
probably benign |
Het |
| Greb1l |
A |
G |
18: 10,469,399 (GRCm39) |
D138G |
probably damaging |
Het |
| Has1 |
A |
T |
17: 18,063,924 (GRCm39) |
|
probably benign |
Het |
| Ighv1-42 |
A |
G |
12: 114,900,804 (GRCm39) |
S94P |
probably damaging |
Het |
| Katnb1 |
T |
A |
8: 95,824,787 (GRCm39) |
L569Q |
probably damaging |
Het |
| Nedd1 |
C |
T |
10: 92,534,031 (GRCm39) |
|
probably null |
Het |
| Or2b2 |
A |
G |
13: 21,887,243 (GRCm39) |
E24G |
probably benign |
Het |
| Or8c15 |
T |
A |
9: 38,120,997 (GRCm39) |
I214N |
probably damaging |
Het |
| Pdcd4 |
G |
A |
19: 53,917,552 (GRCm39) |
R463H |
probably benign |
Het |
| Psmg2 |
G |
A |
18: 67,786,293 (GRCm39) |
V218I |
probably benign |
Het |
| Ro60 |
A |
G |
1: 143,637,120 (GRCm39) |
V364A |
probably benign |
Het |
| Rps19bp1 |
A |
G |
15: 80,145,532 (GRCm39) |
M84T |
probably benign |
Het |
| Sass6 |
A |
T |
3: 116,398,847 (GRCm39) |
D43V |
probably damaging |
Het |
| Senp6 |
G |
A |
9: 80,029,290 (GRCm39) |
S551N |
probably benign |
Het |
| Sh2d2a |
A |
G |
3: 87,759,432 (GRCm39) |
E273G |
probably damaging |
Het |
| Slc16a14 |
T |
C |
1: 84,889,908 (GRCm39) |
|
probably benign |
Het |
| Smcr8 |
C |
T |
11: 60,674,671 (GRCm39) |
R816C |
possibly damaging |
Het |
| Trappc8 |
A |
T |
18: 20,970,103 (GRCm39) |
N962K |
probably benign |
Het |
| Trpc6 |
A |
G |
9: 8,656,604 (GRCm39) |
E677G |
probably damaging |
Het |
| Ubap2 |
G |
T |
4: 41,195,998 (GRCm39) |
P961T |
probably damaging |
Het |
| Vmn1r23 |
A |
G |
6: 57,903,061 (GRCm39) |
V239A |
possibly damaging |
Het |
| Vps41 |
T |
C |
13: 18,966,897 (GRCm39) |
|
probably benign |
Het |
| Vwf |
A |
T |
6: 125,568,128 (GRCm39) |
D341V |
probably damaging |
Het |
| Zfp618 |
C |
T |
4: 62,998,133 (GRCm39) |
P45L |
probably benign |
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 |
|
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 |
2013-12-09 |
Incidental Mutation