Incidental Mutation 'R8513:Galnt3'
| ID |
655966 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Galnt3
|
| Ensembl Gene |
ENSMUSG00000026994 |
| Gene Name |
polypeptide N-acetylgalactosaminyltransferase 3 |
| Synonyms |
ppGaNTase-T3 |
| MMRRC Submission |
067889-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.376)
|
| Stock # |
R8513 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
65913110-65955217 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 65924064 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Stop codon
at position 401
(C401*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028378
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028378]
|
| AlphaFold |
P70419 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000028378
AA Change: C401*
|
| SMART Domains |
Protein: ENSMUSP00000028378
Gene: ENSMUSG00000026994
AA Change: C401*
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.5%
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Apoe |
C |
A |
7: 19,430,565 (GRCm39) |
G226W |
probably damaging |
Het |
| Armc9 |
T |
C |
1: 86,090,405 (GRCm39) |
F67L |
probably damaging |
Het |
| Bsn |
T |
C |
9: 107,991,709 (GRCm39) |
I1348V |
possibly damaging |
Het |
| Cdc73 |
C |
A |
1: 143,493,129 (GRCm39) |
E402* |
probably null |
Het |
| Coro2a |
ACCAGAAGAGCCATCCAG |
ACCAG |
4: 46,544,117 (GRCm39) |
|
probably null |
Het |
| Cpt2 |
G |
A |
4: 107,764,123 (GRCm39) |
A547V |
probably damaging |
Het |
| Cpxm2 |
A |
T |
7: 131,745,431 (GRCm39) |
H131Q |
probably benign |
Het |
| Ctdp1 |
G |
A |
18: 80,492,678 (GRCm39) |
L606F |
possibly damaging |
Het |
| Dot1l |
T |
C |
10: 80,627,260 (GRCm39) |
S1494P |
possibly damaging |
Het |
| Evpl |
C |
T |
11: 116,120,570 (GRCm39) |
|
probably null |
Het |
| Fgd3 |
T |
C |
13: 49,417,400 (GRCm39) |
T688A |
probably benign |
Het |
| Gml2 |
C |
G |
15: 74,696,004 (GRCm39) |
P133A |
probably damaging |
Het |
| Hepacam |
A |
G |
9: 37,291,930 (GRCm39) |
E86G |
probably benign |
Het |
| Ilf3 |
A |
G |
9: 21,299,932 (GRCm39) |
E39G |
possibly damaging |
Het |
| Kdm3b |
G |
T |
18: 34,926,129 (GRCm39) |
A90S |
probably benign |
Het |
| Kiz |
A |
G |
2: 146,712,684 (GRCm39) |
|
probably null |
Het |
| Myo1e |
T |
A |
9: 70,227,370 (GRCm39) |
L147H |
probably damaging |
Het |
| Naa15 |
T |
A |
3: 51,367,444 (GRCm39) |
V539E |
probably damaging |
Het |
| Nlrp6 |
A |
C |
7: 140,502,743 (GRCm39) |
D283A |
possibly damaging |
Het |
| Ntf5 |
A |
G |
7: 45,065,179 (GRCm39) |
T104A |
probably damaging |
Het |
| Or1e28-ps1 |
A |
G |
11: 73,615,148 (GRCm39) |
V234A |
unknown |
Het |
| Pacsin3 |
A |
C |
2: 91,093,150 (GRCm39) |
N214T |
probably benign |
Het |
| Pcdha6 |
T |
C |
18: 37,102,229 (GRCm39) |
I474T |
probably damaging |
Het |
| Pcdhgb1 |
A |
G |
18: 37,813,581 (GRCm39) |
Y24C |
probably damaging |
Het |
| Pde2a |
A |
T |
7: 101,158,972 (GRCm39) |
N749Y |
probably damaging |
Het |
| Ptpn3 |
G |
A |
4: 57,270,085 (GRCm39) |
R26* |
probably null |
Het |
| Rab7 |
T |
C |
6: 87,981,250 (GRCm39) |
Y144C |
probably benign |
Het |
| Ralgps1 |
T |
C |
2: 33,226,626 (GRCm39) |
S22G |
probably damaging |
Het |
| Setdb2 |
G |
A |
14: 59,639,839 (GRCm39) |
T668M |
probably damaging |
Het |
| Slit2 |
T |
A |
5: 48,382,050 (GRCm39) |
C510* |
probably null |
Het |
| Snrpa1 |
G |
A |
7: 65,720,381 (GRCm39) |
G195R |
probably benign |
Het |
| Spata2l |
T |
C |
8: 123,960,438 (GRCm39) |
M284V |
probably benign |
Het |
| Spata31d1c |
G |
T |
13: 65,180,991 (GRCm39) |
S30I |
probably damaging |
Het |
| Stab1 |
C |
A |
14: 30,871,747 (GRCm39) |
|
probably null |
Het |
| Tmem184b |
A |
T |
15: 79,254,123 (GRCm39) |
S142T |
probably benign |
Het |
| Tmem201 |
A |
T |
4: 149,812,380 (GRCm39) |
M312K |
probably damaging |
Het |
| Tpp1 |
A |
T |
7: 105,398,786 (GRCm39) |
D214E |
possibly damaging |
Het |
| Trav7-2 |
C |
T |
14: 53,628,478 (GRCm39) |
S72F |
probably damaging |
Het |
| Vmn1r37 |
A |
G |
6: 66,708,820 (GRCm39) |
T149A |
probably benign |
Het |
| Zfp512 |
T |
C |
5: 31,637,425 (GRCm39) |
S505P |
probably damaging |
Het |
| Zfp942 |
T |
C |
17: 22,147,282 (GRCm39) |
D449G |
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 |
|
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 |
|
R8844:Galnt3
|
UTSW |
2 |
65,915,636 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AACGTAGCCCTCACTTACTTGC -3'
(R):5'- TCTCTCGGTGCATTTAATGAAGC -3'
Sequencing Primer
(F):5'- GCTTAACGATTTTTGCTGCATCTG -3'
(R):5'- CTCGGTGCATTTAATGAAGCTATTG -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation