Incidental Mutation 'PIT4531001:Galnt3'
| ID |
556436 |
| Institutional Source |
Beutler Lab
|
| 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 # |
PIT4531001 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
65913110-65955217 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 65937432 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 93
(R93C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028378
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028378]
|
| AlphaFold |
P70419 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028378
AA Change: R93C
PolyPhen 2
Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000028378
Gene: ENSMUSG00000026994
AA Change: R93C
| 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: 93.0%
- 3x: 90.6%
- 10x: 84.3%
- 20x: 70.3%
|
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adpgk |
T |
G |
9: 59,217,600 (GRCm39) |
D204E |
probably damaging |
Het |
| Aqr |
C |
A |
2: 113,961,215 (GRCm39) |
V682L |
possibly damaging |
Het |
| Bmper |
A |
T |
9: 23,136,113 (GRCm39) |
N65Y |
possibly damaging |
Het |
| Calb1 |
T |
C |
4: 15,900,925 (GRCm39) |
L171P |
probably damaging |
Het |
| Card11 |
T |
C |
5: 140,892,415 (GRCm39) |
M217V |
probably damaging |
Het |
| Col11a2 |
A |
G |
17: 34,265,412 (GRCm39) |
|
probably null |
Het |
| Dpm1 |
T |
C |
2: 168,052,472 (GRCm39) |
T255A |
probably benign |
Het |
| Efhb |
A |
G |
17: 53,752,803 (GRCm39) |
Y440H |
probably damaging |
Het |
| Elp2 |
T |
C |
18: 24,737,170 (GRCm39) |
V40A |
probably damaging |
Het |
| Far2 |
A |
T |
6: 148,076,629 (GRCm39) |
N491Y |
possibly damaging |
Het |
| Frem1 |
T |
A |
4: 82,868,517 (GRCm39) |
H1488L |
probably benign |
Het |
| Frrs1l |
C |
A |
4: 56,990,144 (GRCm39) |
R43L |
unknown |
Het |
| Gm8225 |
A |
G |
17: 26,762,363 (GRCm39) |
T185A |
possibly damaging |
Het |
| H2-Q1 |
T |
C |
17: 35,539,892 (GRCm39) |
F54L |
probably benign |
Het |
| H2-Q1 |
A |
T |
17: 35,540,055 (GRCm39) |
Q108L |
probably damaging |
Het |
| Hoxc12 |
T |
G |
15: 102,846,855 (GRCm39) |
L249W |
probably damaging |
Het |
| Lrrc75b |
A |
T |
10: 75,393,099 (GRCm39) |
H83Q |
probably damaging |
Het |
| Muc4 |
A |
T |
16: 32,576,391 (GRCm39) |
T1964S |
unknown |
Het |
| Nob1 |
T |
C |
8: 108,145,049 (GRCm39) |
D142G |
probably benign |
Het |
| Or2y1d |
T |
C |
11: 49,321,753 (GRCm39) |
V150A |
probably benign |
Het |
| Or4p19 |
A |
T |
2: 88,242,104 (GRCm39) |
H299Q |
probably benign |
Het |
| Or4p22 |
A |
T |
2: 88,317,601 (GRCm39) |
Y175F |
possibly damaging |
Het |
| Or5b24 |
G |
A |
19: 12,912,641 (GRCm39) |
D180N |
probably damaging |
Het |
| Or5d16 |
A |
G |
2: 87,773,571 (GRCm39) |
Y134H |
probably damaging |
Het |
| Patj |
A |
T |
4: 98,329,327 (GRCm39) |
N527I |
probably damaging |
Het |
| Pik3c2g |
A |
G |
6: 139,805,096 (GRCm39) |
I543V |
|
Het |
| Ppp1r2 |
A |
T |
16: 31,077,279 (GRCm39) |
N150K |
probably damaging |
Het |
| Prl7d1 |
A |
T |
13: 27,894,161 (GRCm39) |
L135Q |
probably damaging |
Het |
| Ralgds |
G |
T |
2: 28,435,226 (GRCm39) |
E461* |
probably null |
Het |
| Ramac |
C |
T |
7: 81,417,327 (GRCm39) |
P9L |
possibly damaging |
Het |
| Rasa3 |
T |
A |
8: 13,655,887 (GRCm39) |
H116L |
probably benign |
Het |
| Sec24d |
C |
T |
3: 123,136,827 (GRCm39) |
P520L |
probably damaging |
Het |
| Sfmbt1 |
T |
G |
14: 30,518,283 (GRCm39) |
S376A |
probably benign |
Het |
| Sspo |
A |
G |
6: 48,458,173 (GRCm39) |
T3290A |
probably benign |
Het |
| Stk25 |
G |
A |
1: 93,552,346 (GRCm39) |
P345S |
probably benign |
Het |
| Sycp2l |
A |
G |
13: 41,300,148 (GRCm39) |
E454G |
probably null |
Het |
| Tecpr1 |
T |
C |
5: 144,150,885 (GRCm39) |
K308E |
probably damaging |
Het |
| Thtpa |
C |
T |
14: 55,332,962 (GRCm39) |
P16S |
probably damaging |
Het |
| Trim65 |
T |
A |
11: 116,018,535 (GRCm39) |
I247F |
possibly damaging |
Het |
| Trpc6 |
T |
G |
9: 8,610,149 (GRCm39) |
Y206D |
probably benign |
Het |
| Ttn |
G |
A |
2: 76,703,307 (GRCm39) |
T9357I |
unknown |
Het |
| Ugt2b1 |
C |
A |
5: 87,074,342 (GRCm39) |
A6S |
probably benign |
Het |
| Vmn1r175 |
A |
G |
7: 23,508,603 (GRCm39) |
V8A |
possibly damaging |
Het |
| Vps13b |
T |
A |
15: 35,878,971 (GRCm39) |
I2990N |
probably damaging |
Het |
| Xirp2 |
G |
A |
2: 67,345,826 (GRCm39) |
R2689Q |
possibly damaging |
Het |
| Zfp831 |
T |
A |
2: 174,488,516 (GRCm39) |
Y1064N |
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CACTTGCAAAGGCGTTGAAGC -3'
(R):5'- AAAGTTCTGGAAGCTGGGTGC -3'
Sequencing Primer
(F):5'- AAGCAGTGCTTCGTTTCCC -3'
(R):5'- AAGCTGGGTGCAGTCATC -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation