Incidental Mutation 'IGL02943:Galnt5'
| ID |
364609 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Galnt5
|
| Ensembl Gene |
ENSMUSG00000026828 |
| Gene Name |
polypeptide N-acetylgalactosaminyltransferase 5 |
| Synonyms |
ppGaNTase-T5 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02943
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
57887832-57931039 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 57889780 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 460
(D460V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131362
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000112616]
[ENSMUST00000166729]
|
| AlphaFold |
Q8C102 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000112616
AA Change: D460V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000108235
Gene: ENSMUSG00000026828
AA Change: D460V
| 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 damaging
Transcript: ENSMUST00000166729
AA Change: D460V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000131362
Gene: ENSMUSG00000026828
AA Change: D460V
| 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 |
|
| Validation Efficiency |
|
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akp3 |
T |
A |
1: 87,054,091 (GRCm39) |
Y236* |
probably null |
Het |
| Ankrd13c |
C |
T |
3: 157,653,564 (GRCm39) |
T134M |
probably damaging |
Het |
| Arhgef18 |
T |
C |
8: 3,498,553 (GRCm39) |
S529P |
probably damaging |
Het |
| Cdkl2 |
T |
A |
5: 92,185,103 (GRCm39) |
N96I |
possibly damaging |
Het |
| Cep57 |
A |
T |
9: 13,730,149 (GRCm39) |
|
probably benign |
Het |
| Chchd7 |
T |
C |
4: 3,942,796 (GRCm39) |
Y44H |
probably damaging |
Het |
| Ciart |
T |
C |
3: 95,786,314 (GRCm39) |
I254V |
possibly damaging |
Het |
| Cyp2a12 |
T |
C |
7: 26,731,967 (GRCm39) |
I236T |
probably benign |
Het |
| Dlgap5 |
A |
G |
14: 47,650,433 (GRCm39) |
|
probably null |
Het |
| Ednra |
T |
A |
8: 78,446,683 (GRCm39) |
I132F |
probably damaging |
Het |
| En2 |
T |
C |
5: 28,371,524 (GRCm39) |
|
probably benign |
Het |
| Fcgbpl1 |
A |
G |
7: 27,846,613 (GRCm39) |
R1102G |
probably damaging |
Het |
| Fsip2 |
C |
A |
2: 82,822,701 (GRCm39) |
Q6145K |
probably benign |
Het |
| Gm6401 |
C |
T |
14: 41,788,851 (GRCm39) |
E73K |
possibly damaging |
Het |
| Gpr84 |
T |
C |
15: 103,217,316 (GRCm39) |
I254V |
probably benign |
Het |
| Hacd3 |
A |
T |
9: 64,897,718 (GRCm39) |
I298N |
probably damaging |
Het |
| Hyal6 |
T |
A |
6: 24,743,438 (GRCm39) |
V378E |
probably damaging |
Het |
| Il20rb |
G |
T |
9: 100,348,305 (GRCm39) |
H210N |
probably benign |
Het |
| Iqgap2 |
A |
G |
13: 95,798,243 (GRCm39) |
|
probably benign |
Het |
| Itga1 |
C |
T |
13: 115,185,832 (GRCm39) |
E57K |
possibly damaging |
Het |
| Jmjd1c |
T |
A |
10: 67,055,433 (GRCm39) |
D571E |
probably damaging |
Het |
| Kmt2c |
T |
C |
5: 25,495,821 (GRCm39) |
S623G |
probably damaging |
Het |
| L3mbtl2 |
T |
A |
15: 81,570,456 (GRCm39) |
S645T |
possibly damaging |
Het |
| Lrp2 |
A |
G |
2: 69,285,854 (GRCm39) |
V3779A |
possibly damaging |
Het |
| Lrpprc |
T |
C |
17: 85,078,878 (GRCm39) |
R279G |
probably benign |
Het |
| Lurap1l |
A |
G |
4: 80,871,872 (GRCm39) |
K122E |
probably damaging |
Het |
| Met |
T |
C |
6: 17,535,928 (GRCm39) |
Y785H |
possibly damaging |
Het |
| Myh3 |
T |
C |
11: 66,981,891 (GRCm39) |
F796L |
probably benign |
Het |
| Myo16 |
T |
C |
8: 10,450,595 (GRCm39) |
|
probably benign |
Het |
| Nedd4l |
T |
C |
18: 65,294,723 (GRCm39) |
|
probably null |
Het |
| Nlrp4c |
T |
C |
7: 6,068,974 (GRCm39) |
C292R |
probably damaging |
Het |
| Nmnat1 |
A |
G |
4: 149,557,745 (GRCm39) |
L99P |
probably damaging |
Het |
| Or1j12 |
A |
T |
2: 36,343,051 (GRCm39) |
L151F |
probably benign |
Het |
| Or5p64 |
A |
G |
7: 107,854,623 (GRCm39) |
F241L |
possibly damaging |
Het |
| Pclo |
T |
C |
5: 14,719,235 (GRCm39) |
V1124A |
unknown |
Het |
| Phf20l1 |
A |
G |
15: 66,466,733 (GRCm39) |
Y54C |
probably damaging |
Het |
| Postn |
T |
C |
3: 54,285,029 (GRCm39) |
|
probably null |
Het |
| Ppp2r1b |
A |
G |
9: 50,794,885 (GRCm39) |
D570G |
probably damaging |
Het |
| Prdm2 |
A |
C |
4: 142,858,542 (GRCm39) |
S1583A |
probably benign |
Het |
| Proser1 |
T |
C |
3: 53,386,524 (GRCm39) |
V802A |
probably damaging |
Het |
| Ptprc |
A |
T |
1: 138,027,251 (GRCm39) |
N532K |
probably damaging |
Het |
| Ptprk |
A |
G |
10: 28,351,172 (GRCm39) |
H555R |
possibly damaging |
Het |
| Ranbp6 |
T |
C |
19: 29,789,524 (GRCm39) |
D276G |
possibly damaging |
Het |
| Rasgrf2 |
A |
G |
13: 92,131,752 (GRCm39) |
V635A |
probably damaging |
Het |
| Rbm5 |
T |
C |
9: 107,621,542 (GRCm39) |
Y620C |
probably damaging |
Het |
| Sall1 |
C |
T |
8: 89,757,749 (GRCm39) |
R785H |
probably damaging |
Het |
| Slc22a2 |
G |
T |
17: 12,828,948 (GRCm39) |
L351F |
probably damaging |
Het |
| Sorcs3 |
A |
T |
19: 48,748,377 (GRCm39) |
Q782L |
probably benign |
Het |
| Sphkap |
A |
T |
1: 83,254,552 (GRCm39) |
S779T |
probably damaging |
Het |
| Stxbp2 |
A |
T |
8: 3,691,971 (GRCm39) |
I538F |
probably benign |
Het |
| Tas2r107 |
T |
A |
6: 131,636,369 (GRCm39) |
M227L |
probably damaging |
Het |
| Tecpr2 |
C |
T |
12: 110,934,183 (GRCm39) |
T1281I |
probably benign |
Het |
| Topbp1 |
T |
A |
9: 103,205,639 (GRCm39) |
V759E |
probably benign |
Het |
| Trim2 |
T |
C |
3: 84,085,483 (GRCm39) |
T504A |
probably benign |
Het |
| Trpc1 |
A |
G |
9: 95,590,906 (GRCm39) |
|
probably benign |
Het |
| Tssk4 |
T |
A |
14: 55,889,023 (GRCm39) |
V183E |
probably damaging |
Het |
| Vmn1r202 |
T |
C |
13: 22,686,364 (GRCm39) |
T18A |
probably benign |
Het |
| Vmn1r225 |
T |
C |
17: 20,722,567 (GRCm39) |
S3P |
possibly damaging |
Het |
| Vmn2r101 |
T |
A |
17: 19,831,666 (GRCm39) |
V554E |
probably damaging |
Het |
| Vps13a |
T |
C |
19: 16,641,250 (GRCm39) |
I2291V |
probably damaging |
Het |
| Vps39 |
A |
G |
2: 120,169,968 (GRCm39) |
S195P |
possibly damaging |
Het |
| Zfand4 |
T |
A |
6: 116,250,837 (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 |
|
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 |
|
|
R0517:Galnt5
|
UTSW |
2 |
57,925,385 (GRCm39) |
splice site |
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 |
|
| Posted On |
2015-12-18 |
Incidental Mutation