Incidental Mutation 'IGL01533:Galnt13'
ID |
89849 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Galnt13
|
Ensembl Gene |
ENSMUSG00000060988 |
Gene Name |
polypeptide N-acetylgalactosaminyltransferase 13 |
Synonyms |
pp-GalNAc-T13 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.111)
|
Stock # |
IGL01533
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
54326329-55008321 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 54770144 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 312
(M312K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000108255
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068595]
[ENSMUST00000112634]
[ENSMUST00000112635]
[ENSMUST00000112636]
|
AlphaFold |
Q8CF93 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000068595
AA Change: M312K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000063464 Gene: ENSMUSG00000060988 AA Change: M312K
Domain | Start | End | E-Value | Type |
transmembrane domain
|
5 |
27 |
N/A |
INTRINSIC |
Pfam:Glyco_tranf_2_3
|
115 |
368 |
1.5e-11 |
PFAM |
Pfam:Glycos_transf_2
|
118 |
302 |
7.4e-35 |
PFAM |
Pfam:Glyco_tranf_2_2
|
118 |
343 |
3.1e-7 |
PFAM |
Pfam:Glyco_transf_7C
|
280 |
348 |
4.8e-9 |
PFAM |
RICIN
|
427 |
550 |
9.63e-34 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000112634
AA Change: M312K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000108253 Gene: ENSMUSG00000060988 AA Change: M312K
Domain | Start | End | E-Value | Type |
transmembrane domain
|
5 |
27 |
N/A |
INTRINSIC |
Pfam:Glyco_tranf_2_3
|
115 |
367 |
2.7e-10 |
PFAM |
Pfam:Glycos_transf_2
|
118 |
302 |
1.8e-38 |
PFAM |
Pfam:Glyco_tranf_2_2
|
118 |
343 |
3.2e-7 |
PFAM |
Pfam:Glyco_transf_7C
|
280 |
348 |
4.9e-10 |
PFAM |
RICIN
|
427 |
586 |
5.34e-18 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000112635
AA Change: M312K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000108254 Gene: ENSMUSG00000060988 AA Change: M312K
Domain | Start | End | E-Value | Type |
transmembrane domain
|
5 |
27 |
N/A |
INTRINSIC |
Pfam:Glyco_tranf_2_3
|
115 |
368 |
1.5e-11 |
PFAM |
Pfam:Glycos_transf_2
|
118 |
302 |
7.4e-35 |
PFAM |
Pfam:Glyco_tranf_2_2
|
118 |
343 |
3.1e-7 |
PFAM |
Pfam:Glyco_transf_7C
|
280 |
348 |
4.8e-9 |
PFAM |
RICIN
|
427 |
550 |
9.63e-34 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000112636
AA Change: M312K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000108255 Gene: ENSMUSG00000060988 AA Change: M312K
Domain | Start | End | E-Value | Type |
transmembrane domain
|
5 |
27 |
N/A |
INTRINSIC |
Pfam:Glyco_tranf_2_3
|
115 |
368 |
1.5e-11 |
PFAM |
Pfam:Glycos_transf_2
|
118 |
302 |
7.4e-35 |
PFAM |
Pfam:Glyco_tranf_2_2
|
118 |
343 |
3.1e-7 |
PFAM |
Pfam:Glyco_transf_7C
|
280 |
348 |
4.8e-9 |
PFAM |
RICIN
|
427 |
550 |
9.63e-34 |
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 GALNT13 protein is a member of the UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase (GalNAcT; EC 2.4.1.41) family, which initiate O-linked glycosylation of mucins (see MUC3A, MIM 158371) by the initial transfer of N-acetylgalactosamine (GalNAc) with an alpha-linkage to a serine or threonine residue.[supplied by OMIM, Apr 2004] PHENOTYPE: Galnt13 is expressed exclusively in neuronal cells. Conditional animals can be used with cre-expressing strains to produce total or tissue-specific deletion of this locus. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Afg3l2 |
C |
A |
18: 67,538,488 (GRCm39) |
E757* |
probably null |
Het |
Arhgap15 |
T |
C |
2: 44,133,165 (GRCm39) |
V357A |
probably damaging |
Het |
Asb13 |
T |
C |
13: 3,692,164 (GRCm39) |
V48A |
probably benign |
Het |
Bbs7 |
T |
C |
3: 36,664,384 (GRCm39) |
R74G |
possibly damaging |
Het |
Capn11 |
T |
C |
17: 45,943,830 (GRCm39) |
H568R |
probably benign |
Het |
Cbx5 |
T |
C |
15: 103,114,061 (GRCm39) |
E61G |
probably damaging |
Het |
Ccdc158 |
T |
C |
5: 92,757,815 (GRCm39) |
|
probably null |
Het |
Col14a1 |
C |
A |
15: 55,284,236 (GRCm39) |
N832K |
unknown |
Het |
Cyp2a4 |
A |
T |
7: 26,007,969 (GRCm39) |
K125N |
probably damaging |
Het |
Dhx16 |
T |
C |
17: 36,192,939 (GRCm39) |
L215P |
probably damaging |
Het |
Dtx4 |
T |
C |
19: 12,455,579 (GRCm39) |
M480V |
possibly damaging |
Het |
Edaradd |
A |
G |
13: 12,493,463 (GRCm39) |
|
probably benign |
Het |
Gcdh |
T |
A |
8: 85,615,991 (GRCm39) |
R337W |
probably damaging |
Het |
Gm28557 |
A |
T |
13: 67,219,396 (GRCm39) |
C109* |
probably null |
Het |
Gpr22 |
C |
T |
12: 31,758,709 (GRCm39) |
|
probably benign |
Het |
Gria4 |
T |
G |
9: 4,502,395 (GRCm39) |
L379F |
probably damaging |
Het |
Gxylt2 |
T |
C |
6: 100,760,098 (GRCm39) |
L211P |
probably damaging |
Het |
Igsf10 |
T |
A |
3: 59,226,651 (GRCm39) |
I2341F |
probably damaging |
Het |
Macf1 |
T |
C |
4: 123,367,666 (GRCm39) |
D2365G |
probably damaging |
Het |
Morc2b |
A |
G |
17: 33,354,695 (GRCm39) |
|
probably benign |
Het |
Ncoa3 |
T |
C |
2: 165,896,945 (GRCm39) |
S579P |
probably benign |
Het |
Nlgn1 |
T |
C |
3: 25,490,527 (GRCm39) |
N400S |
possibly damaging |
Het |
Or5w17 |
C |
A |
2: 87,583,412 (GRCm39) |
R308S |
probably benign |
Het |
Or8g17 |
C |
T |
9: 38,930,097 (GRCm39) |
A247T |
probably damaging |
Het |
Pi4ka |
A |
G |
16: 17,126,065 (GRCm39) |
S1102P |
probably benign |
Het |
Polr1e |
A |
G |
4: 45,019,328 (GRCm39) |
Y59C |
probably damaging |
Het |
Prex2 |
C |
T |
1: 11,256,965 (GRCm39) |
Q1226* |
probably null |
Het |
Rab12 |
A |
T |
17: 66,804,430 (GRCm39) |
I176K |
probably damaging |
Het |
Ryr2 |
A |
T |
13: 11,736,676 (GRCm39) |
N2250K |
probably damaging |
Het |
Sbf1 |
T |
C |
15: 89,172,919 (GRCm39) |
T1865A |
probably damaging |
Het |
Sema6b |
G |
A |
17: 56,436,499 (GRCm39) |
|
probably benign |
Het |
Smarcb1 |
C |
T |
10: 75,752,602 (GRCm39) |
|
probably null |
Het |
Sos1 |
A |
G |
17: 80,722,511 (GRCm39) |
L845S |
probably damaging |
Het |
Stat4 |
T |
A |
1: 52,137,578 (GRCm39) |
N456K |
probably damaging |
Het |
Tex264 |
A |
G |
9: 106,550,798 (GRCm39) |
I133T |
probably benign |
Het |
Thoc1 |
T |
C |
18: 9,962,376 (GRCm39) |
V87A |
probably benign |
Het |
Tmem131 |
C |
T |
1: 36,857,803 (GRCm39) |
D778N |
probably damaging |
Het |
Tspan14 |
A |
G |
14: 40,638,776 (GRCm39) |
I88T |
probably benign |
Het |
Ttn |
C |
A |
2: 76,562,918 (GRCm39) |
V28679L |
possibly damaging |
Het |
Ttn |
A |
G |
2: 76,782,285 (GRCm39) |
S984P |
probably damaging |
Het |
Vangl1 |
T |
C |
3: 102,070,667 (GRCm39) |
E423G |
possibly damaging |
Het |
|
Other mutations in Galnt13 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00401:Galnt13
|
APN |
2 |
54,406,547 (GRCm39) |
utr 5 prime |
probably benign |
|
IGL00769:Galnt13
|
APN |
2 |
54,770,116 (GRCm39) |
missense |
probably benign |
0.37 |
IGL01862:Galnt13
|
APN |
2 |
54,747,926 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02363:Galnt13
|
APN |
2 |
55,002,872 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02493:Galnt13
|
APN |
2 |
54,770,149 (GRCm39) |
missense |
probably benign |
0.05 |
IGL03108:Galnt13
|
APN |
2 |
54,744,660 (GRCm39) |
missense |
probably benign |
0.02 |
IGL03219:Galnt13
|
APN |
2 |
54,823,447 (GRCm39) |
missense |
possibly damaging |
0.85 |
G1patch:Galnt13
|
UTSW |
2 |
54,745,244 (GRCm39) |
missense |
probably damaging |
1.00 |
R0142:Galnt13
|
UTSW |
2 |
54,988,615 (GRCm39) |
missense |
probably damaging |
1.00 |
R0324:Galnt13
|
UTSW |
2 |
54,744,628 (GRCm39) |
missense |
probably benign |
0.01 |
R0379:Galnt13
|
UTSW |
2 |
54,950,504 (GRCm39) |
missense |
possibly damaging |
0.72 |
R1321:Galnt13
|
UTSW |
2 |
54,988,606 (GRCm39) |
missense |
probably damaging |
0.98 |
R1509:Galnt13
|
UTSW |
2 |
54,623,094 (GRCm39) |
missense |
probably damaging |
1.00 |
R1521:Galnt13
|
UTSW |
2 |
54,744,657 (GRCm39) |
missense |
probably benign |
|
R1539:Galnt13
|
UTSW |
2 |
54,747,869 (GRCm39) |
missense |
probably damaging |
1.00 |
R1638:Galnt13
|
UTSW |
2 |
54,744,667 (GRCm39) |
missense |
probably damaging |
1.00 |
R1640:Galnt13
|
UTSW |
2 |
54,950,558 (GRCm39) |
missense |
probably damaging |
1.00 |
R2299:Galnt13
|
UTSW |
2 |
54,950,595 (GRCm39) |
missense |
possibly damaging |
0.61 |
R2365:Galnt13
|
UTSW |
2 |
54,744,709 (GRCm39) |
missense |
possibly damaging |
0.85 |
R2367:Galnt13
|
UTSW |
2 |
55,002,956 (GRCm39) |
missense |
probably benign |
0.00 |
R3687:Galnt13
|
UTSW |
2 |
54,770,074 (GRCm39) |
missense |
probably benign |
0.31 |
R3726:Galnt13
|
UTSW |
2 |
54,988,669 (GRCm39) |
missense |
probably damaging |
1.00 |
R3730:Galnt13
|
UTSW |
2 |
54,823,519 (GRCm39) |
missense |
possibly damaging |
0.91 |
R3731:Galnt13
|
UTSW |
2 |
54,823,519 (GRCm39) |
missense |
possibly damaging |
0.91 |
R4626:Galnt13
|
UTSW |
2 |
54,747,878 (GRCm39) |
missense |
probably damaging |
1.00 |
R4880:Galnt13
|
UTSW |
2 |
54,950,584 (GRCm39) |
missense |
probably damaging |
1.00 |
R4928:Galnt13
|
UTSW |
2 |
54,406,577 (GRCm39) |
missense |
probably damaging |
1.00 |
R5421:Galnt13
|
UTSW |
2 |
54,747,908 (GRCm39) |
missense |
probably damaging |
1.00 |
R6136:Galnt13
|
UTSW |
2 |
54,406,491 (GRCm39) |
start gained |
probably benign |
|
R6244:Galnt13
|
UTSW |
2 |
54,823,560 (GRCm39) |
missense |
probably damaging |
1.00 |
R6725:Galnt13
|
UTSW |
2 |
54,745,244 (GRCm39) |
missense |
probably damaging |
1.00 |
R7058:Galnt13
|
UTSW |
2 |
54,988,587 (GRCm39) |
missense |
probably damaging |
0.99 |
R7448:Galnt13
|
UTSW |
2 |
54,406,576 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7635:Galnt13
|
UTSW |
2 |
54,747,829 (GRCm39) |
missense |
probably damaging |
1.00 |
R7889:Galnt13
|
UTSW |
2 |
55,002,873 (GRCm39) |
missense |
probably benign |
0.02 |
R8003:Galnt13
|
UTSW |
2 |
54,950,497 (GRCm39) |
nonsense |
probably null |
|
R8207:Galnt13
|
UTSW |
2 |
54,770,122 (GRCm39) |
missense |
probably benign |
0.00 |
R8525:Galnt13
|
UTSW |
2 |
54,950,488 (GRCm39) |
missense |
possibly damaging |
0.95 |
R8539:Galnt13
|
UTSW |
2 |
54,823,584 (GRCm39) |
splice site |
probably null |
|
R8885:Galnt13
|
UTSW |
2 |
54,770,138 (GRCm39) |
missense |
probably benign |
|
R8946:Galnt13
|
UTSW |
2 |
54,770,075 (GRCm39) |
missense |
probably benign |
0.29 |
R9306:Galnt13
|
UTSW |
2 |
54,823,569 (GRCm39) |
missense |
probably benign |
0.01 |
R9340:Galnt13
|
UTSW |
2 |
54,770,161 (GRCm39) |
missense |
probably damaging |
1.00 |
R9362:Galnt13
|
UTSW |
2 |
54,623,064 (GRCm39) |
missense |
probably benign |
0.00 |
R9444:Galnt13
|
UTSW |
2 |
55,002,928 (GRCm39) |
missense |
probably benign |
|
R9590:Galnt13
|
UTSW |
2 |
54,747,973 (GRCm39) |
missense |
probably benign |
0.02 |
R9779:Galnt13
|
UTSW |
2 |
54,623,062 (GRCm39) |
missense |
probably benign |
|
|
Posted On |
2013-12-03 |