Incidental Mutation 'R0517:Galnt5'
| ID |
48211 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Galnt5
|
| Ensembl Gene |
ENSMUSG00000026828 |
| Gene Name |
polypeptide N-acetylgalactosaminyltransferase 5 |
| Synonyms |
ppGaNTase-T5 |
| MMRRC Submission |
038710-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0517 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
57887832-57931039 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to G
at 57925385 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131362
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000112616]
[ENSMUST00000166729]
|
| AlphaFold |
Q8C102 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112616
|
| SMART Domains |
Protein: ENSMUSP00000108235
Gene: ENSMUSG00000026828
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
13 |
35 |
N/A |
INTRINSIC |
|
low complexity region
|
319 |
330 |
N/A |
INTRINSIC |
|
Pfam:Glycos_transf_2
|
489 |
672 |
1.3e-33 |
PFAM |
|
Pfam:Glyco_transf_7C
|
653 |
718 |
1.9e-8 |
PFAM |
|
RICIN
|
801 |
925 |
1.36e-19 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144671
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000166729
|
| SMART Domains |
Protein: ENSMUSP00000131362
Gene: ENSMUSG00000026828
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
13 |
35 |
N/A |
INTRINSIC |
|
low complexity region
|
319 |
330 |
N/A |
INTRINSIC |
|
Pfam:Glycos_transf_2
|
489 |
672 |
2.1e-30 |
PFAM |
|
Pfam:Glyco_transf_7C
|
652 |
718 |
7e-8 |
PFAM |
|
RICIN
|
801 |
925 |
1.36e-19 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.1%
- 20x: 92.1%
|
| Validation Efficiency |
100% (62/62) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a membrane-bound polypeptide N-acetylgalactosaminyltransferase that is found in the Golgi. The encoded protein catalyzes the first step in the mucin-type O-glycosylation of Golgi proteins, transfering an N-acetyl-D-galactosamine residue to a serine or threonine residue on the protein receptor. [provided by RefSeq, Aug 2016]
PHENOTYPE: An unpublished knockout mutation is reported to have no overt phenotypic consequences. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2410137M14Rik |
T |
A |
17: 37,292,024 (GRCm39) |
|
probably benign |
Het |
| Acer1 |
T |
C |
17: 57,262,569 (GRCm39) |
T194A |
probably benign |
Het |
| Adamts1 |
C |
A |
16: 85,597,241 (GRCm39) |
D10Y |
possibly damaging |
Het |
| Adamts7 |
T |
C |
9: 90,081,911 (GRCm39) |
V1612A |
probably benign |
Het |
| Adcyap1r1 |
T |
A |
6: 55,468,282 (GRCm39) |
S373T |
probably damaging |
Het |
| Asic5 |
A |
T |
3: 81,916,833 (GRCm39) |
I266F |
probably benign |
Het |
| Cacna1d |
A |
T |
14: 29,901,232 (GRCm39) |
I274K |
probably damaging |
Het |
| Camsap2 |
G |
T |
1: 136,221,126 (GRCm39) |
Q238K |
possibly damaging |
Het |
| Ceacam15 |
A |
C |
7: 16,407,445 (GRCm39) |
L24* |
probably null |
Het |
| Cerk |
G |
A |
15: 86,040,849 (GRCm39) |
T170I |
probably damaging |
Het |
| Cyp27b1 |
T |
C |
10: 126,885,985 (GRCm39) |
|
probably null |
Het |
| Cyp2c65 |
T |
C |
19: 39,070,792 (GRCm39) |
|
probably benign |
Het |
| Dennd5a |
A |
G |
7: 109,533,968 (GRCm39) |
S75P |
probably damaging |
Het |
| Dhx9 |
C |
T |
1: 153,354,662 (GRCm39) |
A146T |
possibly damaging |
Het |
| Dpysl5 |
A |
G |
5: 30,935,410 (GRCm39) |
D171G |
probably damaging |
Het |
| Dsg3 |
A |
G |
18: 20,662,082 (GRCm39) |
N449S |
probably benign |
Het |
| Eps8l3 |
T |
C |
3: 107,790,776 (GRCm39) |
S189P |
probably benign |
Het |
| Exph5 |
A |
G |
9: 53,284,062 (GRCm39) |
E381G |
probably benign |
Het |
| Fbxo46 |
A |
G |
7: 18,870,799 (GRCm39) |
M473V |
possibly damaging |
Het |
| Fgf14 |
G |
A |
14: 124,221,196 (GRCm39) |
P203S |
probably damaging |
Het |
| Foxf2 |
C |
T |
13: 31,810,226 (GRCm39) |
A55V |
unknown |
Het |
| Glis2 |
T |
C |
16: 4,429,416 (GRCm39) |
L181P |
probably damaging |
Het |
| Gm10000 |
T |
G |
12: 104,442,667 (GRCm39) |
|
probably benign |
Het |
| Helz2 |
A |
G |
2: 180,869,563 (GRCm39) |
S2959P |
probably benign |
Het |
| Hyal6 |
A |
G |
6: 24,734,852 (GRCm39) |
N262D |
probably benign |
Het |
| Lgr4 |
T |
C |
2: 109,841,665 (GRCm39) |
L526P |
probably damaging |
Het |
| Mapk1 |
A |
T |
16: 16,833,910 (GRCm39) |
I88F |
probably benign |
Het |
| Mpg |
A |
T |
11: 32,181,853 (GRCm39) |
H287L |
probably benign |
Het |
| Mpp4 |
A |
T |
1: 59,163,886 (GRCm39) |
Y489* |
probably null |
Het |
| Mpzl1 |
T |
C |
1: 165,429,359 (GRCm39) |
E224G |
probably damaging |
Het |
| Myh10 |
A |
G |
11: 68,702,425 (GRCm39) |
|
probably null |
Het |
| Odad2 |
A |
C |
18: 7,223,621 (GRCm39) |
L474R |
probably damaging |
Het |
| Or13p8 |
T |
A |
4: 118,583,831 (GRCm39) |
I129K |
probably damaging |
Het |
| Or5m9 |
T |
C |
2: 85,877,548 (GRCm39) |
S241P |
probably damaging |
Het |
| Paip1 |
T |
A |
13: 119,584,326 (GRCm39) |
F196I |
probably damaging |
Het |
| Pde3a |
A |
T |
6: 141,444,383 (GRCm39) |
K1064* |
probably null |
Het |
| Pira2 |
A |
T |
7: 3,847,196 (GRCm39) |
|
probably benign |
Het |
| Pros1 |
A |
G |
16: 62,723,881 (GRCm39) |
S210G |
probably benign |
Het |
| Rbm15 |
A |
T |
3: 107,238,685 (GRCm39) |
L571Q |
probably damaging |
Het |
| Scn1a |
T |
A |
2: 66,132,751 (GRCm39) |
T1194S |
possibly damaging |
Het |
| Sema6a |
G |
A |
18: 47,423,112 (GRCm39) |
|
probably null |
Het |
| Serpina1e |
G |
A |
12: 103,915,486 (GRCm39) |
T240I |
probably benign |
Het |
| Setx |
T |
G |
2: 29,047,145 (GRCm39) |
S1874R |
probably benign |
Het |
| Sgsm2 |
G |
T |
11: 74,758,477 (GRCm39) |
T256K |
possibly damaging |
Het |
| Slc44a1 |
T |
C |
4: 53,542,366 (GRCm39) |
V300A |
probably damaging |
Het |
| Spata46 |
A |
G |
1: 170,139,178 (GRCm39) |
Y59C |
probably damaging |
Het |
| Supt3 |
T |
C |
17: 45,430,158 (GRCm39) |
F404L |
probably benign |
Het |
| Tars1 |
T |
A |
15: 11,394,452 (GRCm39) |
K62* |
probably null |
Het |
| Tas2r139 |
A |
C |
6: 42,118,425 (GRCm39) |
T186P |
probably damaging |
Het |
| Tasor2 |
T |
A |
13: 3,616,964 (GRCm39) |
T2367S |
possibly damaging |
Het |
| Tc2n |
C |
T |
12: 101,615,454 (GRCm39) |
S457N |
probably damaging |
Het |
| Tox4 |
A |
T |
14: 52,530,085 (GRCm39) |
S582C |
probably benign |
Het |
| Trappc12 |
T |
C |
12: 28,747,133 (GRCm39) |
|
probably benign |
Het |
| Ubqlnl |
G |
T |
7: 103,797,845 (GRCm39) |
Q551K |
probably damaging |
Het |
| Ubr4 |
A |
G |
4: 139,119,435 (GRCm39) |
T205A |
probably benign |
Het |
| Urb1 |
G |
A |
16: 90,574,310 (GRCm39) |
Q924* |
probably null |
Het |
| Vmn1r49 |
A |
G |
6: 90,049,720 (GRCm39) |
L94P |
probably damaging |
Het |
| Vmn2r120 |
T |
C |
17: 57,815,949 (GRCm39) |
Y802C |
probably damaging |
Het |
| Xrcc1 |
C |
T |
7: 24,269,744 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Galnt5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00230:Galnt5
|
APN |
2 |
57,888,985 (GRCm39) |
missense |
probably benign |
|
|
IGL00515:Galnt5
|
APN |
2 |
57,889,080 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL00950:Galnt5
|
APN |
2 |
57,889,144 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL00973:Galnt5
|
APN |
2 |
57,888,951 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL01152:Galnt5
|
APN |
2 |
57,915,405 (GRCm39) |
missense |
probably benign |
0.17 |
|
IGL01305:Galnt5
|
APN |
2 |
57,915,354 (GRCm39) |
nonsense |
probably null |
|
|
IGL01661:Galnt5
|
APN |
2 |
57,889,494 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL01719:Galnt5
|
APN |
2 |
57,888,555 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02165:Galnt5
|
APN |
2 |
57,888,877 (GRCm39) |
missense |
probably benign |
|
|
IGL02795:Galnt5
|
APN |
2 |
57,917,883 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02943:Galnt5
|
APN |
2 |
57,889,780 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03218:Galnt5
|
APN |
2 |
57,889,401 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
ANU22:Galnt5
|
UTSW |
2 |
57,915,354 (GRCm39) |
nonsense |
probably null |
|
|
R0082:Galnt5
|
UTSW |
2 |
57,889,047 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0113:Galnt5
|
UTSW |
2 |
57,888,889 (GRCm39) |
missense |
probably benign |
|
|
R0445:Galnt5
|
UTSW |
2 |
57,888,962 (GRCm39) |
missense |
probably benign |
|
|
R0609:Galnt5
|
UTSW |
2 |
57,914,637 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R0639:Galnt5
|
UTSW |
2 |
57,889,407 (GRCm39) |
missense |
probably benign |
0.07 |
|
R0646:Galnt5
|
UTSW |
2 |
57,889,097 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0677:Galnt5
|
UTSW |
2 |
57,888,992 (GRCm39) |
nonsense |
probably null |
|
|
R1808:Galnt5
|
UTSW |
2 |
57,916,137 (GRCm39) |
missense |
probably benign |
0.24 |
|
R1927:Galnt5
|
UTSW |
2 |
57,888,615 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1980:Galnt5
|
UTSW |
2 |
57,914,735 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2517:Galnt5
|
UTSW |
2 |
57,889,425 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4044:Galnt5
|
UTSW |
2 |
57,888,472 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4154:Galnt5
|
UTSW |
2 |
57,888,505 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4411:Galnt5
|
UTSW |
2 |
57,889,207 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4703:Galnt5
|
UTSW |
2 |
57,888,919 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R4767:Galnt5
|
UTSW |
2 |
57,918,156 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R5118:Galnt5
|
UTSW |
2 |
57,905,015 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5497:Galnt5
|
UTSW |
2 |
57,915,340 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5506:Galnt5
|
UTSW |
2 |
57,889,637 (GRCm39) |
missense |
probably benign |
|
|
R5548:Galnt5
|
UTSW |
2 |
57,904,922 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5758:Galnt5
|
UTSW |
2 |
57,888,442 (GRCm39) |
missense |
probably benign |
0.19 |
|
R5937:Galnt5
|
UTSW |
2 |
57,928,949 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6237:Galnt5
|
UTSW |
2 |
57,925,261 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6805:Galnt5
|
UTSW |
2 |
57,925,311 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R6959:Galnt5
|
UTSW |
2 |
57,889,231 (GRCm39) |
missense |
probably benign |
0.39 |
|
R7070:Galnt5
|
UTSW |
2 |
57,888,621 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7179:Galnt5
|
UTSW |
2 |
57,888,621 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7347:Galnt5
|
UTSW |
2 |
57,907,205 (GRCm39) |
missense |
probably benign |
0.33 |
|
R7419:Galnt5
|
UTSW |
2 |
57,904,937 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7426:Galnt5
|
UTSW |
2 |
57,907,151 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7492:Galnt5
|
UTSW |
2 |
57,916,048 (GRCm39) |
splice site |
probably null |
|
|
R7539:Galnt5
|
UTSW |
2 |
57,925,242 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7623:Galnt5
|
UTSW |
2 |
57,907,222 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8135:Galnt5
|
UTSW |
2 |
57,904,880 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8155:Galnt5
|
UTSW |
2 |
57,889,427 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8544:Galnt5
|
UTSW |
2 |
57,907,160 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9267:Galnt5
|
UTSW |
2 |
57,925,220 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R9747:Galnt5
|
UTSW |
2 |
57,889,477 (GRCm39) |
missense |
probably benign |
0.11 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTGCTTACTGAATGGCCTGTCCTG -3'
(R):5'- TGCAAAGCTGGCAAGAGACCAC -3'
Sequencing Primer
(F):5'- GAATGGCCTGTCCTGTTCCC -3'
(R):5'- ACTGGAGTCATTCTAGACAGC -3'
|
| Posted On |
2013-06-12 |
Incidental Mutation