Incidental Mutation 'R1390:Galnt3'
| ID |
162565 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Galnt3
|
| Ensembl Gene |
ENSMUSG00000026994 |
| Gene Name |
polypeptide N-acetylgalactosaminyltransferase 3 |
| Synonyms |
ppGaNTase-T3 |
| MMRRC Submission |
039452-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.376)
|
| Stock # |
R1390 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
65913110-65955217 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 65921567 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 488
(Y488C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028378
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028378]
|
| AlphaFold |
P70419 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000028378
AA Change: Y488C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000028378
Gene: ENSMUSG00000026994
AA Change: Y488C
| 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 |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.8%
- 20x: 90.8%
|
| 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: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy2 |
T |
A |
13: 68,805,512 (GRCm39) |
I819F |
possibly damaging |
Het |
| Carm1 |
T |
A |
9: 21,490,789 (GRCm39) |
M219K |
probably damaging |
Het |
| Casd1 |
T |
C |
6: 4,641,859 (GRCm39) |
I712T |
probably benign |
Het |
| Dido1 |
A |
G |
2: 180,326,917 (GRCm39) |
V402A |
possibly damaging |
Het |
| Frem3 |
T |
C |
8: 81,417,402 (GRCm39) |
S2036P |
probably damaging |
Het |
| Ints8 |
A |
T |
4: 11,239,461 (GRCm39) |
I288K |
probably benign |
Het |
| Mcmbp |
A |
C |
7: 128,325,865 (GRCm39) |
M71R |
probably damaging |
Het |
| Nid1 |
T |
G |
13: 13,650,831 (GRCm39) |
L456R |
probably damaging |
Het |
| Obscn |
T |
C |
11: 58,984,274 (GRCm39) |
D1752G |
probably damaging |
Het |
| Or4f47 |
A |
G |
2: 111,972,952 (GRCm39) |
I221V |
probably benign |
Het |
| Osbpl3 |
T |
A |
6: 50,285,407 (GRCm39) |
D647V |
probably damaging |
Het |
| Rbpms2 |
ACTGCTGCTGCTGCTGC |
ACTGCTGCTGCTGCTGCTGC |
9: 65,558,948 (GRCm39) |
|
probably benign |
Het |
| Shank1 |
G |
T |
7: 44,006,462 (GRCm39) |
G2060W |
probably damaging |
Het |
| Skint5 |
A |
G |
4: 113,512,881 (GRCm39) |
S884P |
unknown |
Het |
| Slit2 |
G |
A |
5: 48,374,832 (GRCm39) |
S370N |
probably benign |
Het |
| Sorcs3 |
G |
A |
19: 48,682,440 (GRCm39) |
|
probably null |
Het |
| Strip2 |
G |
T |
6: 29,929,828 (GRCm39) |
R305L |
probably damaging |
Het |
| Trim30d |
T |
C |
7: 104,132,610 (GRCm39) |
R226G |
probably benign |
Het |
| Vmn1r173 |
T |
G |
7: 23,402,323 (GRCm39) |
V186G |
possibly damaging |
Het |
| Zfp719 |
A |
G |
7: 43,239,867 (GRCm39) |
D485G |
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 |
|
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGAATCAATGGTTTGCCTCCCTGG -3'
(R):5'- GCACACCTGTGGCTTACATGAATGG -3'
Sequencing Primer
(F):5'- TGGTTATTCTCACCAACATCCAGAC -3'
(R):5'- GGCATTTGAAGTCCATCCAG -3'
|
| Posted On |
2014-03-17 |
Incidental Mutation