Incidental Mutation 'IGL02493:Galnt13'
ID |
295737 |
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: 0.130)
|
Stock # |
IGL02493
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
54326329-55008321 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 54770149 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 314
(I314V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000108255
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068595]
[ENSMUST00000112634]
[ENSMUST00000112635]
[ENSMUST00000112636]
|
AlphaFold |
Q8CF93 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000068595
AA Change: I314V
PolyPhen 2
Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000063464 Gene: ENSMUSG00000060988 AA Change: I314V
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 benign
Transcript: ENSMUST00000112634
AA Change: I314V
PolyPhen 2
Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000108253 Gene: ENSMUSG00000060988 AA Change: I314V
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 benign
Transcript: ENSMUST00000112635
AA Change: I314V
PolyPhen 2
Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000108254 Gene: ENSMUSG00000060988 AA Change: I314V
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 benign
Transcript: ENSMUST00000112636
AA Change: I314V
PolyPhen 2
Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000108255 Gene: ENSMUSG00000060988 AA Change: I314V
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: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933412E24Rik |
T |
G |
15: 59,888,312 (GRCm39) |
S43R |
probably benign |
Het |
Afap1l1 |
G |
T |
18: 61,870,594 (GRCm39) |
Q595K |
possibly damaging |
Het |
Alpk2 |
T |
C |
18: 65,483,402 (GRCm39) |
E202G |
probably benign |
Het |
Ap3b1 |
T |
C |
13: 94,540,528 (GRCm39) |
V150A |
probably damaging |
Het |
Bcas3 |
T |
C |
11: 85,386,708 (GRCm39) |
I381T |
probably damaging |
Het |
Best3 |
A |
T |
10: 116,860,506 (GRCm39) |
R589W |
possibly damaging |
Het |
Birc6 |
A |
G |
17: 74,959,054 (GRCm39) |
|
probably benign |
Het |
Clcn4 |
A |
C |
7: 7,287,243 (GRCm39) |
D728E |
probably damaging |
Het |
Commd2 |
C |
A |
3: 57,559,080 (GRCm39) |
|
probably benign |
Het |
Csrp1 |
T |
A |
1: 135,678,801 (GRCm39) |
F175L |
probably damaging |
Het |
Eif3c |
A |
T |
7: 126,158,073 (GRCm39) |
N294K |
probably damaging |
Het |
Fam184a |
A |
G |
10: 53,570,789 (GRCm39) |
|
probably null |
Het |
Fndc1 |
G |
T |
17: 7,994,377 (GRCm39) |
P297Q |
unknown |
Het |
Gimap6 |
T |
A |
6: 48,679,603 (GRCm39) |
K144N |
probably damaging |
Het |
Gm10188 |
A |
T |
1: 132,157,143 (GRCm39) |
C74* |
probably null |
Het |
Gpatch2 |
C |
T |
1: 186,965,325 (GRCm39) |
|
probably benign |
Het |
Hace1 |
T |
A |
10: 45,464,515 (GRCm39) |
M39K |
probably damaging |
Het |
Has2 |
G |
T |
15: 56,531,320 (GRCm39) |
T465K |
probably damaging |
Het |
Homer3 |
T |
A |
8: 70,742,721 (GRCm39) |
V144D |
probably benign |
Het |
Ift140 |
A |
T |
17: 25,306,898 (GRCm39) |
K878* |
probably null |
Het |
Ikbip |
A |
G |
10: 90,932,456 (GRCm39) |
N367D |
probably damaging |
Het |
Immt |
T |
C |
6: 71,821,700 (GRCm39) |
|
probably benign |
Het |
Isca1 |
A |
G |
13: 59,910,596 (GRCm39) |
V32A |
possibly damaging |
Het |
Kcnu1 |
T |
A |
8: 26,427,548 (GRCm39) |
N288K |
possibly damaging |
Het |
Kmt2b |
C |
T |
7: 30,268,936 (GRCm39) |
|
probably benign |
Het |
Lrguk |
T |
A |
6: 34,106,127 (GRCm39) |
D717E |
probably benign |
Het |
Lrp1 |
C |
T |
10: 127,417,647 (GRCm39) |
G1037E |
probably damaging |
Het |
Man2a2 |
T |
A |
7: 80,019,363 (GRCm39) |
Q37L |
possibly damaging |
Het |
Msh4 |
C |
T |
3: 153,583,545 (GRCm39) |
|
probably null |
Het |
Mtf1 |
C |
T |
4: 124,715,112 (GRCm39) |
R246W |
probably damaging |
Het |
Mvb12b |
A |
G |
2: 33,730,221 (GRCm39) |
S57P |
probably benign |
Het |
Nat8f5 |
A |
G |
6: 85,794,544 (GRCm39) |
F139L |
probably benign |
Het |
Npepps |
A |
G |
11: 97,128,985 (GRCm39) |
F400L |
probably damaging |
Het |
Ntsr2 |
T |
A |
12: 16,708,390 (GRCm39) |
S248T |
possibly damaging |
Het |
Oplah |
G |
A |
15: 76,185,155 (GRCm39) |
R853* |
probably null |
Het |
Or5b98 |
T |
C |
19: 12,931,138 (GRCm39) |
F62L |
probably benign |
Het |
Or5p57 |
A |
T |
7: 107,665,012 (GRCm39) |
M331K |
possibly damaging |
Het |
Plekhh2 |
G |
A |
17: 84,914,391 (GRCm39) |
|
probably null |
Het |
Pskh1 |
G |
A |
8: 106,656,388 (GRCm39) |
V355I |
probably benign |
Het |
Rab31 |
A |
T |
17: 66,024,547 (GRCm39) |
M44K |
possibly damaging |
Het |
Slc5a4b |
A |
G |
10: 75,910,849 (GRCm39) |
V329A |
probably damaging |
Het |
Slc5a7 |
A |
G |
17: 54,600,908 (GRCm39) |
Y76H |
probably damaging |
Het |
Trappc14 |
T |
C |
5: 138,261,432 (GRCm39) |
|
probably null |
Het |
Treh |
A |
T |
9: 44,594,246 (GRCm39) |
D164V |
possibly damaging |
Het |
Trim6 |
A |
G |
7: 103,881,847 (GRCm39) |
Y366C |
probably benign |
Het |
Ubr7 |
T |
C |
12: 102,734,479 (GRCm39) |
V251A |
probably benign |
Het |
Vmn1r35 |
T |
A |
6: 66,656,463 (GRCm39) |
N69I |
possibly damaging |
Het |
Zan |
A |
G |
5: 137,433,968 (GRCm39) |
L2255P |
unknown |
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 |
IGL01533:Galnt13
|
APN |
2 |
54,770,144 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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 |
2015-04-16 |