Incidental Mutation 'R4519:Galnt3'
| ID |
334101 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Galnt3
|
| Ensembl Gene |
ENSMUSG00000026994 |
| Gene Name |
polypeptide N-acetylgalactosaminyltransferase 3 |
| Synonyms |
ppGaNTase-T3 |
| MMRRC Submission |
041590-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.380)
|
| Stock # |
R4519 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
65913110-65955217 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 65923954 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 438
(R438L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028378
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028378]
|
| AlphaFold |
P70419 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000028378
AA Change: R438L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000028378
Gene: ENSMUSG00000026994
AA Change: R438L
| 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
|
| Meta Mutation Damage Score |
0.6521 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.6%
|
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921528I07Rik |
A |
G |
9: 114,129,092 (GRCm39) |
|
noncoding transcript |
Het |
| Acadsb |
A |
T |
7: 131,031,733 (GRCm39) |
T190S |
probably damaging |
Het |
| Adamts17 |
G |
T |
7: 66,490,314 (GRCm39) |
G132V |
probably damaging |
Het |
| Atosa |
A |
G |
9: 74,930,929 (GRCm39) |
I957M |
probably damaging |
Het |
| Atp8b3 |
C |
T |
10: 80,359,681 (GRCm39) |
M984I |
probably benign |
Het |
| Atp8b4 |
A |
T |
2: 126,256,379 (GRCm39) |
|
probably null |
Het |
| Btbd18 |
T |
C |
2: 84,497,924 (GRCm39) |
Y521H |
probably damaging |
Het |
| Casd1 |
A |
G |
6: 4,621,102 (GRCm39) |
N220S |
probably benign |
Het |
| Ccdc112 |
T |
G |
18: 46,420,613 (GRCm39) |
E379A |
possibly damaging |
Het |
| Ccdc88a |
T |
C |
11: 29,432,651 (GRCm39) |
I1219T |
probably benign |
Het |
| Cntrl |
A |
T |
2: 35,063,123 (GRCm39) |
K1573M |
probably damaging |
Het |
| Col14a1 |
A |
T |
15: 55,251,975 (GRCm39) |
I544F |
unknown |
Het |
| Cyp20a1 |
A |
T |
1: 60,426,306 (GRCm39) |
Y416F |
probably damaging |
Het |
| Dagla |
T |
C |
19: 10,247,096 (GRCm39) |
K132E |
probably damaging |
Het |
| Dbn1 |
A |
T |
13: 55,624,042 (GRCm39) |
I350N |
possibly damaging |
Het |
| Ddx41 |
A |
T |
13: 55,680,957 (GRCm39) |
V329E |
probably damaging |
Het |
| Dhx32 |
A |
T |
7: 133,335,838 (GRCm39) |
Y272N |
probably damaging |
Het |
| Fam114a1 |
C |
A |
5: 65,163,225 (GRCm39) |
P174Q |
probably benign |
Het |
| Ghr |
T |
A |
15: 3,362,970 (GRCm39) |
L167F |
probably damaging |
Het |
| Glod4 |
T |
A |
11: 76,134,397 (GRCm39) |
D25V |
probably damaging |
Het |
| Gm9767 |
T |
C |
10: 25,954,756 (GRCm39) |
|
probably benign |
Het |
| Golga4 |
T |
A |
9: 118,388,076 (GRCm39) |
S1733T |
probably benign |
Het |
| Gsdme |
A |
T |
6: 50,206,333 (GRCm39) |
I170N |
probably damaging |
Het |
| H2-M10.3 |
C |
T |
17: 36,678,722 (GRCm39) |
|
probably null |
Het |
| Kmt2c |
T |
A |
5: 25,568,475 (GRCm39) |
K867M |
probably damaging |
Het |
| Krt35 |
A |
G |
11: 99,985,453 (GRCm39) |
V196A |
possibly damaging |
Het |
| Ltbp1 |
A |
T |
17: 75,671,492 (GRCm39) |
M1558L |
probably benign |
Het |
| Mcam |
T |
G |
9: 44,052,640 (GRCm39) |
M623R |
possibly damaging |
Het |
| Mrps26 |
A |
T |
2: 130,406,269 (GRCm39) |
Q134L |
probably benign |
Het |
| Mxra8 |
T |
C |
4: 155,927,440 (GRCm39) |
|
probably null |
Het |
| Or13a21 |
A |
G |
7: 139,999,123 (GRCm39) |
S188P |
probably damaging |
Het |
| Or52n20 |
G |
A |
7: 104,320,046 (GRCm39) |
G46R |
probably damaging |
Het |
| Orc4 |
G |
A |
2: 48,827,501 (GRCm39) |
P31S |
probably benign |
Het |
| Pabir3 |
G |
A |
X: 52,382,376 (GRCm39) |
R94H |
possibly damaging |
Het |
| Parg |
C |
A |
14: 31,931,592 (GRCm39) |
T404K |
probably damaging |
Het |
| Parp8 |
C |
A |
13: 117,032,209 (GRCm39) |
L321F |
possibly damaging |
Het |
| Piezo2 |
T |
C |
18: 63,205,951 (GRCm39) |
E1486G |
probably damaging |
Het |
| Pign |
A |
T |
1: 105,525,391 (GRCm39) |
|
probably null |
Het |
| Pik3r4 |
A |
G |
9: 105,549,924 (GRCm39) |
H1005R |
probably damaging |
Het |
| Ppp6r1 |
A |
C |
7: 4,644,045 (GRCm39) |
|
probably null |
Het |
| Ptdss2 |
A |
G |
7: 140,734,491 (GRCm39) |
T309A |
probably benign |
Het |
| Ptprt |
T |
C |
2: 161,406,609 (GRCm39) |
M987V |
probably damaging |
Het |
| Rgs17 |
C |
A |
10: 5,868,192 (GRCm39) |
L9F |
probably benign |
Het |
| Rock2 |
A |
G |
12: 17,027,738 (GRCm39) |
R168G |
probably damaging |
Het |
| Rsph4a |
T |
A |
10: 33,787,623 (GRCm39) |
L593* |
probably null |
Het |
| Scaf11 |
C |
A |
15: 96,322,719 (GRCm39) |
K108N |
probably damaging |
Het |
| Sec23b |
T |
A |
2: 144,423,935 (GRCm39) |
M528K |
possibly damaging |
Het |
| Shank2 |
G |
A |
7: 143,963,942 (GRCm39) |
D727N |
probably damaging |
Het |
| Sipa1l2 |
T |
C |
8: 126,218,965 (GRCm39) |
D124G |
probably benign |
Het |
| Spatc1 |
A |
T |
15: 76,176,685 (GRCm39) |
I479F |
probably damaging |
Het |
| Tmem126b |
A |
G |
7: 90,118,316 (GRCm39) |
L188P |
probably damaging |
Het |
| Tnrc6b |
T |
G |
15: 80,764,448 (GRCm39) |
L650W |
probably damaging |
Het |
| Vmn2r62 |
A |
G |
7: 42,413,957 (GRCm39) |
F829L |
probably 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 |
|
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 |
|
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'- GTGTATACACAGGCCTGCCAAG -3'
(R):5'- TGGCGTAGAGACTATATGACATACCAG -3'
Sequencing Primer
(F):5'- CCATCTTGATGGTCAAAGTCAAAGGC -3'
(R):5'- GAGCAACAGTTTGTTTTTCCCACAAG -3'
|
| Posted On |
2015-08-18 |
Incidental Mutation