Incidental Mutation 'IGL03070:Galnt10'
ID |
417480 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Galnt10
|
Ensembl Gene |
ENSMUSG00000020520 |
Gene Name |
polypeptide N-acetylgalactosaminyltransferase 10 |
Synonyms |
C330012K04Rik, GalNAc-T10, Galnt9 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL03070
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
57536268-57678327 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 57616408 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 108
(Y108H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000104474
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066987]
[ENSMUST00000108846]
|
AlphaFold |
Q6P9S7 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000066987
AA Change: Y108H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000065096 Gene: ENSMUSG00000020520 AA Change: Y108H
Domain | Start | End | E-Value | Type |
transmembrane domain
|
12 |
31 |
N/A |
INTRINSIC |
low complexity region
|
38 |
52 |
N/A |
INTRINSIC |
Pfam:Glyco_tranf_2_3
|
145 |
376 |
4.7e-8 |
PFAM |
Pfam:Glycos_transf_2
|
148 |
333 |
1.9e-37 |
PFAM |
Pfam:Glyco_tranf_2_2
|
148 |
373 |
3e-7 |
PFAM |
Pfam:Glyco_transf_7C
|
303 |
376 |
2.3e-11 |
PFAM |
RICIN
|
460 |
590 |
4.29e-31 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000108846
AA Change: Y108H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000104474 Gene: ENSMUSG00000020520 AA Change: Y108H
Domain | Start | End | E-Value | Type |
transmembrane domain
|
12 |
31 |
N/A |
INTRINSIC |
low complexity region
|
38 |
52 |
N/A |
INTRINSIC |
PDB:2D7R|A
|
53 |
133 |
5e-44 |
PDB |
|
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 GalNAc polypeptide N-acetylgalactosaminyltransferases. These enzymes catalyze the first step in the synthesis of mucin-type oligosaccharides. These proteins transfer GalNAc from UDP-GalNAc to either serine or threonine residues of polypeptide acceptors. The protein encoded by this locus may have increased catalytic activity toward glycosylated peptides compared to activity toward non-glycosylated peptides.[provided by RefSeq, Apr 2010] PHENOTYPE: Mice homozygous for a disruption in this gene display a normal phenotype. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 26 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam3 |
T |
C |
8: 25,193,800 (GRCm39) |
E404G |
probably damaging |
Het |
Arid1a |
A |
G |
4: 133,422,064 (GRCm39) |
S778P |
unknown |
Het |
Asah2 |
A |
T |
19: 31,983,744 (GRCm39) |
Y567N |
probably damaging |
Het |
Crb1 |
G |
T |
1: 139,168,996 (GRCm39) |
H841N |
possibly damaging |
Het |
Ehbp1l1 |
A |
G |
19: 5,765,981 (GRCm39) |
V1454A |
probably benign |
Het |
Eif3d |
A |
G |
15: 77,843,843 (GRCm39) |
L501P |
probably damaging |
Het |
Fbxo4 |
A |
T |
15: 4,007,344 (GRCm39) |
S107T |
possibly damaging |
Het |
Hspbap1 |
T |
A |
16: 35,639,096 (GRCm39) |
D263E |
probably damaging |
Het |
Kpna3 |
T |
C |
14: 61,608,231 (GRCm39) |
|
probably benign |
Het |
Miox |
A |
G |
15: 89,220,287 (GRCm39) |
T160A |
possibly damaging |
Het |
Mlxipl |
G |
A |
5: 135,161,307 (GRCm39) |
V409M |
possibly damaging |
Het |
Mrps21 |
A |
T |
3: 95,777,897 (GRCm39) |
|
probably benign |
Het |
Muc6 |
A |
G |
7: 141,230,834 (GRCm39) |
|
probably benign |
Het |
Mup6 |
A |
T |
4: 60,003,999 (GRCm39) |
I31F |
probably damaging |
Het |
Or52s1 |
A |
G |
7: 102,861,904 (GRCm39) |
H279R |
probably benign |
Het |
Pabir1 |
A |
C |
19: 24,454,316 (GRCm39) |
D135E |
probably damaging |
Het |
Pgr |
T |
A |
9: 8,903,665 (GRCm39) |
I562N |
possibly damaging |
Het |
Prag1 |
T |
A |
8: 36,570,703 (GRCm39) |
W429R |
probably benign |
Het |
Prrc2c |
G |
T |
1: 162,504,978 (GRCm39) |
P2621Q |
probably damaging |
Het |
Psip1 |
T |
G |
4: 83,383,318 (GRCm39) |
K232N |
probably damaging |
Het |
Ryr1 |
T |
C |
7: 28,770,084 (GRCm39) |
Y2663C |
probably damaging |
Het |
Trhr2 |
T |
A |
8: 123,085,342 (GRCm39) |
Q214L |
probably benign |
Het |
Txndc11 |
A |
T |
16: 10,893,151 (GRCm39) |
Y860N |
probably damaging |
Het |
Uqcc6 |
A |
T |
10: 82,455,950 (GRCm39) |
|
probably benign |
Het |
Vmn2r72 |
C |
T |
7: 85,401,249 (GRCm39) |
|
probably benign |
Het |
Yif1a |
T |
A |
19: 5,138,757 (GRCm39) |
H4Q |
possibly damaging |
Het |
|
Other mutations in Galnt10 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01367:Galnt10
|
APN |
11 |
57,616,409 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02085:Galnt10
|
APN |
11 |
57,673,104 (GRCm39) |
missense |
probably benign |
|
IGL02154:Galnt10
|
APN |
11 |
57,675,531 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02418:Galnt10
|
APN |
11 |
57,671,994 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02810:Galnt10
|
APN |
11 |
57,616,412 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL03191:Galnt10
|
APN |
11 |
57,662,326 (GRCm39) |
missense |
probably damaging |
1.00 |
R0257:Galnt10
|
UTSW |
11 |
57,671,904 (GRCm39) |
missense |
probably damaging |
1.00 |
R0483:Galnt10
|
UTSW |
11 |
57,672,048 (GRCm39) |
missense |
probably damaging |
1.00 |
R0681:Galnt10
|
UTSW |
11 |
57,660,366 (GRCm39) |
missense |
probably damaging |
1.00 |
R1102:Galnt10
|
UTSW |
11 |
57,671,871 (GRCm39) |
splice site |
probably benign |
|
R1436:Galnt10
|
UTSW |
11 |
57,662,295 (GRCm39) |
missense |
probably damaging |
1.00 |
R1959:Galnt10
|
UTSW |
11 |
57,656,443 (GRCm39) |
missense |
probably damaging |
1.00 |
R3424:Galnt10
|
UTSW |
11 |
57,536,539 (GRCm39) |
missense |
probably benign |
|
R4445:Galnt10
|
UTSW |
11 |
57,674,517 (GRCm39) |
missense |
probably damaging |
0.98 |
R5183:Galnt10
|
UTSW |
11 |
57,660,414 (GRCm39) |
missense |
probably damaging |
1.00 |
R5369:Galnt10
|
UTSW |
11 |
57,656,573 (GRCm39) |
critical splice donor site |
probably null |
|
R5838:Galnt10
|
UTSW |
11 |
57,671,882 (GRCm39) |
missense |
probably damaging |
0.99 |
R6045:Galnt10
|
UTSW |
11 |
57,674,619 (GRCm39) |
missense |
probably damaging |
1.00 |
R6148:Galnt10
|
UTSW |
11 |
57,675,474 (GRCm39) |
missense |
probably damaging |
1.00 |
R6442:Galnt10
|
UTSW |
11 |
57,656,448 (GRCm39) |
missense |
probably benign |
0.03 |
R6851:Galnt10
|
UTSW |
11 |
57,656,458 (GRCm39) |
missense |
probably damaging |
1.00 |
R6873:Galnt10
|
UTSW |
11 |
57,672,045 (GRCm39) |
missense |
probably damaging |
1.00 |
R7013:Galnt10
|
UTSW |
11 |
57,656,410 (GRCm39) |
missense |
probably benign |
0.22 |
R7696:Galnt10
|
UTSW |
11 |
57,660,364 (GRCm39) |
missense |
probably damaging |
1.00 |
R7950:Galnt10
|
UTSW |
11 |
57,674,549 (GRCm39) |
missense |
probably damaging |
0.99 |
R8208:Galnt10
|
UTSW |
11 |
57,536,398 (GRCm39) |
missense |
possibly damaging |
0.85 |
R8264:Galnt10
|
UTSW |
11 |
57,673,032 (GRCm39) |
missense |
probably benign |
0.01 |
R8743:Galnt10
|
UTSW |
11 |
57,675,409 (GRCm39) |
missense |
probably damaging |
1.00 |
R8924:Galnt10
|
UTSW |
11 |
57,674,681 (GRCm39) |
intron |
probably benign |
|
R9143:Galnt10
|
UTSW |
11 |
57,612,146 (GRCm39) |
missense |
probably benign |
|
R9508:Galnt10
|
UTSW |
11 |
57,673,040 (GRCm39) |
missense |
possibly damaging |
0.94 |
R9760:Galnt10
|
UTSW |
11 |
57,656,514 (GRCm39) |
missense |
probably benign |
|
R9777:Galnt10
|
UTSW |
11 |
57,672,065 (GRCm39) |
missense |
probably damaging |
0.98 |
Z1088:Galnt10
|
UTSW |
11 |
57,612,157 (GRCm39) |
missense |
possibly damaging |
0.93 |
Z1177:Galnt10
|
UTSW |
11 |
57,627,826 (GRCm39) |
missense |
probably benign |
0.43 |
Z1186:Galnt10
|
UTSW |
11 |
57,656,514 (GRCm39) |
missense |
probably benign |
|
Z1187:Galnt10
|
UTSW |
11 |
57,656,514 (GRCm39) |
missense |
probably benign |
|
Z1188:Galnt10
|
UTSW |
11 |
57,656,514 (GRCm39) |
missense |
probably benign |
|
Z1189:Galnt10
|
UTSW |
11 |
57,656,514 (GRCm39) |
missense |
probably benign |
|
Z1190:Galnt10
|
UTSW |
11 |
57,656,514 (GRCm39) |
missense |
probably benign |
|
Z1191:Galnt10
|
UTSW |
11 |
57,656,514 (GRCm39) |
missense |
probably benign |
|
Z1192:Galnt10
|
UTSW |
11 |
57,656,514 (GRCm39) |
missense |
probably benign |
|
|
Posted On |
2016-08-02 |