Incidental Mutation 'IGL02187:Galnt2'
ID |
283717 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Galnt2
|
Ensembl Gene |
ENSMUSG00000089704 |
Gene Name |
polypeptide N-acetylgalactosaminyltransferase 2 |
Synonyms |
ppGaNTase-T2 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.113)
|
Stock # |
IGL02187
|
Quality Score |
|
Status
|
|
Chromosome |
8 |
Chromosomal Location |
124958133-125072461 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to C
at 125032245 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000118564
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034458]
[ENSMUST00000127664]
|
AlphaFold |
Q6PB93 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000034458
|
SMART Domains |
Protein: ENSMUSP00000034458 Gene: ENSMUSG00000089704
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
low complexity region
|
25 |
39 |
N/A |
INTRINSIC |
Pfam:Glycos_transf_2
|
138 |
321 |
8.3e-31 |
PFAM |
Pfam:Glyco_transf_7C
|
295 |
365 |
5.4e-8 |
PFAM |
RICIN
|
440 |
565 |
9.28e-27 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000127664
|
SMART Domains |
Protein: ENSMUSP00000118564 Gene: ENSMUSG00000092329
Domain | Start | End | E-Value | Type |
Pfam:Glycos_transf_2
|
104 |
287 |
7.4e-31 |
PFAM |
Pfam:Glyco_transf_7C
|
261 |
331 |
4.9e-8 |
PFAM |
RICIN
|
406 |
531 |
9.28e-27 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142547
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142578
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147911
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162325
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the glycosyltransferase 2 protein family. Members of this family initiate mucin-type O-glycoslation of peptides in the Golgi apparatus. The encoded protein may be involved in O-linked glycosylation of the immunoglobulin A1 hinge region. This gene may influence triglyceride levels, and may be involved Type 2 diabetes, as well as several types of cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]
|
Allele List at MGI |
None
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts18 |
C |
A |
8: 114,439,826 (GRCm39) |
E922D |
possibly damaging |
Het |
Asxl3 |
T |
A |
18: 22,658,035 (GRCm39) |
M2015K |
probably damaging |
Het |
C8a |
C |
A |
4: 104,719,933 (GRCm39) |
R15L |
probably damaging |
Het |
Catsperg2 |
A |
G |
7: 29,420,791 (GRCm39) |
V47A |
probably benign |
Het |
Cdhr2 |
C |
T |
13: 54,881,523 (GRCm39) |
T1081I |
possibly damaging |
Het |
Cenatac |
C |
T |
9: 44,322,084 (GRCm39) |
|
probably benign |
Het |
Cep85 |
T |
A |
4: 133,858,616 (GRCm39) |
M752L |
possibly damaging |
Het |
Cxcr3 |
T |
A |
X: 100,776,483 (GRCm39) |
S60C |
probably damaging |
Het |
Cyp24a1 |
T |
A |
2: 170,336,013 (GRCm39) |
N208I |
probably damaging |
Het |
Cyp2c38 |
A |
G |
19: 39,424,649 (GRCm39) |
I223T |
probably benign |
Het |
Dennd6a |
A |
G |
14: 26,328,081 (GRCm39) |
I35V |
probably benign |
Het |
Emb |
T |
G |
13: 117,405,507 (GRCm39) |
|
probably benign |
Het |
Fbxo3 |
T |
C |
2: 103,858,295 (GRCm39) |
Y30H |
probably damaging |
Het |
Fnbp1l |
G |
A |
3: 122,362,449 (GRCm39) |
R120* |
probably null |
Het |
Gckr |
T |
C |
5: 31,464,768 (GRCm39) |
|
probably benign |
Het |
Gpr101 |
A |
G |
X: 56,546,841 (GRCm39) |
F103S |
probably damaging |
Het |
Gprasp1 |
T |
A |
X: 134,699,912 (GRCm39) |
V35E |
probably damaging |
Het |
Ift80 |
C |
A |
3: 68,892,789 (GRCm39) |
W133L |
probably damaging |
Het |
Impdh1 |
C |
A |
6: 29,207,086 (GRCm39) |
|
probably benign |
Het |
Ino80 |
T |
C |
2: 119,275,938 (GRCm39) |
|
probably benign |
Het |
Kansl1 |
A |
T |
11: 104,269,657 (GRCm39) |
|
probably null |
Het |
Klhl20 |
C |
T |
1: 160,937,280 (GRCm39) |
V32I |
probably benign |
Het |
Lrfn3 |
A |
G |
7: 30,055,389 (GRCm39) |
S519P |
probably damaging |
Het |
Mrpl51 |
A |
G |
6: 125,170,294 (GRCm39) |
N100S |
probably benign |
Het |
Mybpc3 |
T |
C |
2: 90,965,797 (GRCm39) |
I1203T |
probably benign |
Het |
Nbr1 |
A |
G |
11: 101,460,185 (GRCm39) |
I394V |
possibly damaging |
Het |
Nfasc |
G |
A |
1: 132,498,219 (GRCm39) |
T1155M |
probably damaging |
Het |
Or7g34 |
T |
A |
9: 19,478,393 (GRCm39) |
T96S |
probably benign |
Het |
Pan3 |
T |
C |
5: 147,463,398 (GRCm39) |
I440T |
probably benign |
Het |
Patz1 |
T |
C |
11: 3,241,134 (GRCm39) |
L174P |
probably damaging |
Het |
Paxx |
A |
G |
2: 25,350,668 (GRCm39) |
L62P |
probably damaging |
Het |
Plekhh1 |
T |
C |
12: 79,119,592 (GRCm39) |
S972P |
probably damaging |
Het |
Ppp1r13b |
G |
T |
12: 111,801,472 (GRCm39) |
T404K |
probably damaging |
Het |
Prkaa2 |
T |
C |
4: 104,904,363 (GRCm39) |
N238S |
probably benign |
Het |
Prpf6 |
T |
C |
2: 181,257,809 (GRCm39) |
Y94H |
probably damaging |
Het |
Rtn4 |
T |
C |
11: 29,658,291 (GRCm39) |
I815T |
possibly damaging |
Het |
Slc44a5 |
A |
G |
3: 153,968,554 (GRCm39) |
T582A |
probably benign |
Het |
Slitrk3 |
A |
G |
3: 72,957,605 (GRCm39) |
L389S |
probably damaging |
Het |
Srp54b |
T |
A |
12: 55,299,560 (GRCm39) |
M297K |
probably benign |
Het |
Zfp318 |
C |
T |
17: 46,707,736 (GRCm39) |
R265* |
probably null |
Het |
Zmym4 |
T |
A |
4: 126,764,066 (GRCm39) |
I1325L |
probably damaging |
Het |
Zswim2 |
C |
A |
2: 83,753,982 (GRCm39) |
R226L |
probably damaging |
Het |
|
Other mutations in Galnt2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02638:Galnt2
|
APN |
8 |
124,958,318 (GRCm39) |
missense |
probably damaging |
0.98 |
chivalry
|
UTSW |
8 |
125,061,025 (GRCm39) |
nonsense |
probably null |
|
feudal
|
UTSW |
8 |
125,058,837 (GRCm39) |
critical splice donor site |
probably null |
|
gallantry
|
UTSW |
8 |
125,067,561 (GRCm39) |
missense |
probably damaging |
1.00 |
valor
|
UTSW |
8 |
125,056,527 (GRCm39) |
missense |
probably damaging |
1.00 |
P0018:Galnt2
|
UTSW |
8 |
125,063,350 (GRCm39) |
missense |
probably damaging |
1.00 |
R0133:Galnt2
|
UTSW |
8 |
125,065,277 (GRCm39) |
missense |
probably benign |
0.19 |
R0453:Galnt2
|
UTSW |
8 |
125,065,323 (GRCm39) |
splice site |
probably benign |
|
R0709:Galnt2
|
UTSW |
8 |
125,070,085 (GRCm39) |
missense |
probably benign |
0.01 |
R1015:Galnt2
|
UTSW |
8 |
125,063,356 (GRCm39) |
missense |
probably benign |
|
R4388:Galnt2
|
UTSW |
8 |
125,022,192 (GRCm39) |
critical splice donor site |
probably null |
|
R4400:Galnt2
|
UTSW |
8 |
125,051,042 (GRCm39) |
missense |
probably damaging |
1.00 |
R4447:Galnt2
|
UTSW |
8 |
125,022,116 (GRCm39) |
missense |
probably benign |
0.04 |
R4448:Galnt2
|
UTSW |
8 |
125,022,116 (GRCm39) |
missense |
probably benign |
0.04 |
R4449:Galnt2
|
UTSW |
8 |
125,022,116 (GRCm39) |
missense |
probably benign |
0.04 |
R4450:Galnt2
|
UTSW |
8 |
125,022,116 (GRCm39) |
missense |
probably benign |
0.04 |
R4927:Galnt2
|
UTSW |
8 |
125,032,362 (GRCm39) |
missense |
probably damaging |
1.00 |
R5536:Galnt2
|
UTSW |
8 |
125,050,412 (GRCm39) |
missense |
probably damaging |
1.00 |
R6218:Galnt2
|
UTSW |
8 |
125,070,054 (GRCm39) |
missense |
probably benign |
0.01 |
R6732:Galnt2
|
UTSW |
8 |
125,067,561 (GRCm39) |
missense |
probably damaging |
1.00 |
R6795:Galnt2
|
UTSW |
8 |
125,070,175 (GRCm39) |
missense |
probably damaging |
1.00 |
R6823:Galnt2
|
UTSW |
8 |
125,050,750 (GRCm39) |
missense |
probably benign |
|
R7173:Galnt2
|
UTSW |
8 |
125,032,292 (GRCm39) |
missense |
probably benign |
0.00 |
R7479:Galnt2
|
UTSW |
8 |
125,061,077 (GRCm39) |
missense |
probably damaging |
1.00 |
R7818:Galnt2
|
UTSW |
8 |
125,056,527 (GRCm39) |
missense |
probably damaging |
1.00 |
R7821:Galnt2
|
UTSW |
8 |
125,070,134 (GRCm39) |
missense |
possibly damaging |
0.51 |
R7831:Galnt2
|
UTSW |
8 |
125,058,817 (GRCm39) |
missense |
probably benign |
0.04 |
R8348:Galnt2
|
UTSW |
8 |
125,061,025 (GRCm39) |
nonsense |
probably null |
|
R8770:Galnt2
|
UTSW |
8 |
125,061,025 (GRCm39) |
nonsense |
probably null |
|
R8826:Galnt2
|
UTSW |
8 |
125,032,347 (GRCm39) |
missense |
probably damaging |
1.00 |
R9054:Galnt2
|
UTSW |
8 |
125,058,837 (GRCm39) |
critical splice donor site |
probably null |
|
R9269:Galnt2
|
UTSW |
8 |
125,065,202 (GRCm39) |
missense |
probably benign |
0.02 |
X0024:Galnt2
|
UTSW |
8 |
125,070,084 (GRCm39) |
missense |
probably benign |
0.28 |
Z1177:Galnt2
|
UTSW |
8 |
125,070,057 (GRCm39) |
missense |
probably benign |
0.24 |
|
Posted On |
2015-04-16 |