Incidental Mutation 'R3687:Galnt13'
ID |
269553 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Galnt13
|
Ensembl Gene |
ENSMUSG00000060988 |
Gene Name |
polypeptide N-acetylgalactosaminyltransferase 13 |
Synonyms |
pp-GalNAc-T13 |
MMRRC Submission |
040683-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.111)
|
Stock # |
R3687 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
54326329-55008321 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 54770074 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Serine
at position 289
(T289S)
|
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: T289S
PolyPhen 2
Score 0.310 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000063464 Gene: ENSMUSG00000060988 AA Change: T289S
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: T289S
PolyPhen 2
Score 0.310 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000108253 Gene: ENSMUSG00000060988 AA Change: T289S
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: T289S
PolyPhen 2
Score 0.310 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000108254 Gene: ENSMUSG00000060988 AA Change: T289S
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: T289S
PolyPhen 2
Score 0.310 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000108255 Gene: ENSMUSG00000060988 AA Change: T289S
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 |
|
Meta Mutation Damage Score |
0.2468 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.7%
|
Validation Efficiency |
97% (38/39) |
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: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgra1 |
G |
A |
7: 139,432,506 (GRCm39) |
V115M |
probably damaging |
Het |
Atp11c |
T |
C |
X: 59,327,004 (GRCm39) |
Y431C |
probably benign |
Het |
Atp4a |
G |
A |
7: 30,419,650 (GRCm39) |
R671Q |
probably benign |
Het |
B230307C23Rik |
T |
A |
16: 97,810,199 (GRCm39) |
N62K |
probably benign |
Het |
Bnip2 |
T |
A |
9: 69,906,432 (GRCm39) |
Y118N |
probably damaging |
Het |
Bptf |
C |
A |
11: 106,965,024 (GRCm39) |
R1275L |
probably benign |
Het |
C2cd3 |
C |
T |
7: 100,085,040 (GRCm39) |
P1544L |
probably benign |
Het |
Cd44 |
G |
A |
2: 102,731,695 (GRCm39) |
|
probably null |
Het |
Col10a1 |
A |
G |
10: 34,271,494 (GRCm39) |
T489A |
probably benign |
Het |
Dgkk |
T |
C |
X: 6,804,631 (GRCm39) |
|
probably benign |
Het |
Efcab6 |
G |
A |
15: 83,755,479 (GRCm39) |
Q1323* |
probably null |
Het |
Eftud2 |
T |
C |
11: 102,735,027 (GRCm39) |
E624G |
probably damaging |
Het |
Elmo3 |
G |
A |
8: 106,035,468 (GRCm39) |
|
probably null |
Het |
Gm16485 |
T |
C |
9: 8,972,382 (GRCm39) |
|
probably benign |
Het |
Gm43302 |
A |
T |
5: 105,428,132 (GRCm39) |
V143D |
probably damaging |
Het |
Gpr18 |
T |
C |
14: 122,149,873 (GRCm39) |
T51A |
probably damaging |
Het |
Hr |
T |
A |
14: 70,795,236 (GRCm39) |
N289K |
probably damaging |
Het |
Ighv1-24 |
T |
A |
12: 114,736,700 (GRCm39) |
I67F |
probably damaging |
Het |
Ksr2 |
A |
G |
5: 117,693,044 (GRCm39) |
Q164R |
probably damaging |
Het |
Myo3b |
A |
G |
2: 70,075,658 (GRCm39) |
E554G |
probably benign |
Het |
Or10u4 |
A |
T |
10: 129,802,581 (GRCm39) |
|
probably null |
Het |
Or5b99 |
G |
A |
19: 12,976,466 (GRCm39) |
G39R |
probably damaging |
Het |
Or8b101 |
A |
G |
9: 38,020,177 (GRCm39) |
Y60C |
probably damaging |
Het |
Pclo |
A |
G |
5: 14,719,009 (GRCm39) |
T1049A |
unknown |
Het |
Pkhd1l1 |
T |
C |
15: 44,409,983 (GRCm39) |
S2497P |
probably benign |
Het |
Ppm1f |
T |
C |
16: 16,741,747 (GRCm39) |
V407A |
probably damaging |
Het |
Ppox |
A |
G |
1: 171,105,066 (GRCm39) |
L374S |
probably damaging |
Het |
Prkdc |
T |
C |
16: 15,617,831 (GRCm39) |
Y3221H |
probably benign |
Het |
Ptprk |
A |
T |
10: 28,349,039 (GRCm39) |
I520F |
probably damaging |
Het |
Pus10 |
T |
C |
11: 23,617,334 (GRCm39) |
F16L |
probably benign |
Het |
Rab36 |
G |
A |
10: 74,880,328 (GRCm39) |
V63I |
probably damaging |
Het |
Rab3d |
A |
T |
9: 21,826,204 (GRCm39) |
M101K |
probably damaging |
Het |
Rangap1 |
A |
T |
15: 81,602,963 (GRCm39) |
M154K |
possibly damaging |
Het |
Slc25a17 |
A |
G |
15: 81,211,485 (GRCm39) |
F177S |
probably benign |
Het |
Tas2r114 |
T |
C |
6: 131,666,231 (GRCm39) |
T266A |
probably benign |
Het |
Top2b |
T |
G |
14: 16,409,189 (GRCm38) |
I777M |
probably damaging |
Het |
Trem3 |
T |
A |
17: 48,564,955 (GRCm39) |
V152D |
probably damaging |
Het |
Vmn2r4 |
T |
A |
3: 64,296,896 (GRCm39) |
I630F |
possibly damaging |
Het |
Vwa5b2 |
C |
A |
16: 20,410,308 (GRCm39) |
|
probably benign |
Het |
Zfp518b |
A |
T |
5: 38,831,455 (GRCm39) |
H183Q |
probably 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 |
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 |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- AACCTGCAGATTTAACTAGGCATTG -3'
(R):5'- GGTGTGATAGATGCATGCTACC -3'
Sequencing Primer
(F):5'- AACTAGGCATTGTTTCTTCAGTG -3'
(R):5'- GCATGCTACCATATACTATGTTCAG -3'
|
Posted On |
2015-02-19 |