Incidental Mutation 'IGL02165:Galnt5'
ID |
282636 |
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 # |
IGL02165
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
57887832-57931039 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 57888877 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 159
(M159K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000131362
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000112616]
[ENSMUST00000166729]
|
AlphaFold |
Q8C102 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000112616
AA Change: M159K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000108235 Gene: ENSMUSG00000026828 AA Change: M159K
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
AA Change: M159K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000131362 Gene: ENSMUSG00000026828 AA Change: M159K
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 [provided by RefSeq, Aug 2016] PHENOTYPE: An unpublished knockout mutation is reported to have no overt phenotypic consequences.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: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A1cf |
T |
A |
19: 31,904,586 (GRCm39) |
M199K |
possibly damaging |
Het |
Abo |
C |
A |
2: 26,733,441 (GRCm39) |
V255L |
probably damaging |
Het |
Alas1 |
A |
T |
9: 106,115,982 (GRCm39) |
M344K |
probably damaging |
Het |
Ap1m1 |
A |
G |
8: 73,003,653 (GRCm39) |
I118V |
probably benign |
Het |
Ap5m1 |
A |
T |
14: 49,316,185 (GRCm39) |
I252F |
possibly damaging |
Het |
Arhgef2 |
G |
A |
3: 88,553,527 (GRCm39) |
R886H |
probably damaging |
Het |
Atp13a4 |
T |
C |
16: 29,252,828 (GRCm39) |
E706G |
probably damaging |
Het |
Baz2a |
C |
A |
10: 127,955,218 (GRCm39) |
A775E |
probably benign |
Het |
C3 |
A |
T |
17: 57,532,092 (GRCm39) |
F210I |
probably benign |
Het |
Casq1 |
A |
G |
1: 172,040,948 (GRCm39) |
L280P |
probably damaging |
Het |
Cebpz |
A |
G |
17: 79,229,598 (GRCm39) |
F919L |
probably damaging |
Het |
Commd1b |
A |
T |
11: 22,932,072 (GRCm39) |
|
probably benign |
Het |
Dclre1c |
T |
A |
2: 3,451,418 (GRCm39) |
|
probably benign |
Het |
Dsc3 |
T |
G |
18: 20,116,709 (GRCm39) |
M276L |
probably benign |
Het |
Dync2i2 |
T |
C |
2: 29,922,172 (GRCm39) |
T430A |
probably benign |
Het |
Eftud2 |
A |
G |
11: 102,742,573 (GRCm39) |
|
probably benign |
Het |
Elfn2 |
T |
A |
15: 78,557,618 (GRCm39) |
T310S |
probably benign |
Het |
Ep300 |
A |
G |
15: 81,525,592 (GRCm39) |
K1472R |
probably benign |
Het |
Fbxl2 |
T |
C |
9: 113,847,099 (GRCm39) |
D8G |
probably benign |
Het |
Hars2 |
T |
A |
18: 36,916,447 (GRCm39) |
M1K |
probably null |
Het |
Hk1 |
T |
C |
10: 62,117,667 (GRCm39) |
T619A |
probably damaging |
Het |
Ifi44 |
C |
T |
3: 151,455,067 (GRCm39) |
V53M |
probably damaging |
Het |
Ippk |
T |
A |
13: 49,600,011 (GRCm39) |
V339D |
possibly damaging |
Het |
Kcnma1 |
G |
T |
14: 23,387,035 (GRCm39) |
N875K |
possibly damaging |
Het |
Kdm5a |
T |
A |
6: 120,392,251 (GRCm39) |
V991E |
probably damaging |
Het |
Larp6 |
A |
G |
9: 60,620,595 (GRCm39) |
E36G |
probably benign |
Het |
Lonp2 |
A |
T |
8: 87,435,654 (GRCm39) |
D210V |
probably damaging |
Het |
Lrrc4c |
G |
A |
2: 97,459,378 (GRCm39) |
M1I |
probably null |
Het |
Mmp2 |
A |
G |
8: 93,559,847 (GRCm39) |
K270R |
probably null |
Het |
Nexmif |
C |
T |
X: 103,128,360 (GRCm39) |
V1186I |
probably benign |
Het |
Or11g2 |
A |
G |
14: 50,856,468 (GRCm39) |
Y263C |
probably damaging |
Het |
Or1x2 |
A |
T |
11: 50,918,470 (GRCm39) |
I214F |
probably benign |
Het |
Pld2 |
T |
C |
11: 70,446,503 (GRCm39) |
L763P |
probably damaging |
Het |
Pold1 |
A |
T |
7: 44,187,484 (GRCm39) |
F644L |
probably damaging |
Het |
Prrc2b |
T |
C |
2: 32,104,652 (GRCm39) |
S1377P |
probably damaging |
Het |
Rps18-ps6 |
T |
G |
13: 97,896,648 (GRCm39) |
K150T |
probably benign |
Het |
Rttn |
A |
G |
18: 89,061,165 (GRCm39) |
D1111G |
probably benign |
Het |
Slc27a5 |
A |
G |
7: 12,728,875 (GRCm39) |
V130A |
probably damaging |
Het |
Slfn8 |
T |
C |
11: 82,908,022 (GRCm39) |
R174G |
probably benign |
Het |
Slitrk6 |
G |
A |
14: 110,989,249 (GRCm39) |
P153S |
probably benign |
Het |
Sorcs3 |
T |
C |
19: 48,642,511 (GRCm39) |
I388T |
probably benign |
Het |
Star |
A |
T |
8: 26,302,843 (GRCm39) |
T262S |
possibly damaging |
Het |
Strn |
A |
T |
17: 78,995,049 (GRCm39) |
W2R |
probably damaging |
Het |
Tnmd |
T |
C |
X: 132,763,701 (GRCm39) |
S172P |
probably damaging |
Het |
Togaram2 |
A |
G |
17: 72,004,861 (GRCm39) |
K305R |
probably benign |
Het |
Trhde |
C |
A |
10: 114,428,066 (GRCm39) |
W410L |
probably damaging |
Het |
Trim5 |
C |
T |
7: 103,928,566 (GRCm39) |
R125Q |
probably damaging |
Het |
Unc45b |
C |
T |
11: 82,831,007 (GRCm39) |
|
probably benign |
Het |
Vmn1r80 |
T |
A |
7: 11,927,379 (GRCm39) |
M163K |
probably benign |
Het |
Wnk4 |
C |
A |
11: 101,166,117 (GRCm39) |
|
probably benign |
Het |
Zfp277 |
T |
A |
12: 40,365,802 (GRCm39) |
I430F |
possibly damaging |
Het |
Zfp566 |
A |
T |
7: 29,777,255 (GRCm39) |
C309S |
probably damaging |
Het |
Zfp740 |
T |
G |
15: 102,121,109 (GRCm39) |
F141V |
possibly damaging |
Het |
Zfp87 |
T |
A |
13: 67,665,989 (GRCm39) |
I158F |
probably damaging |
Het |
Zswim3 |
C |
A |
2: 164,663,035 (GRCm39) |
A505D |
possibly damaging |
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 |
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 |
|
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 |
2015-04-16 |