Incidental Mutation 'R0142:Galnt13'
| ID |
22355 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Galnt13
|
| Ensembl Gene |
ENSMUSG00000060988 |
| Gene Name |
polypeptide N-acetylgalactosaminyltransferase 13 |
| Synonyms |
pp-GalNAc-T13 |
| MMRRC Submission |
038427-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.111)
|
| Stock # |
R0142 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
(trace)
|
| Chromosome |
2 |
| Chromosomal Location |
54326329-55008321 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 54988615 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 479
(D479G)
|
| 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: D479G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000063464
Gene: ENSMUSG00000060988
AA Change: D479G
| 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: D515G
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000108253
Gene: ENSMUSG00000060988
AA Change: D515G
| 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: D479G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000108254
Gene: ENSMUSG00000060988
AA Change: D479G
| 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: D479G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000108255
Gene: ENSMUSG00000060988
AA Change: D479G
| 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 |
0.6963 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 95.0%
- 20x: 87.6%
|
| Validation Efficiency |
92% (61/66) |
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca6 |
T |
G |
11: 110,079,467 (GRCm39) |
D1229A |
probably damaging |
Het |
| Abhd8 |
A |
C |
8: 71,914,506 (GRCm39) |
F41V |
probably damaging |
Het |
| Ago4 |
T |
G |
4: 126,410,725 (GRCm39) |
E222A |
probably benign |
Het |
| Ap3b2 |
T |
C |
7: 81,122,828 (GRCm39) |
I470V |
probably damaging |
Het |
| Bcl9l |
C |
T |
9: 44,418,409 (GRCm39) |
T749M |
probably benign |
Het |
| Bicc1 |
T |
C |
10: 70,761,200 (GRCm39) |
K937E |
probably damaging |
Het |
| Bmi1 |
G |
A |
2: 18,688,095 (GRCm39) |
|
probably null |
Het |
| Boc |
A |
C |
16: 44,310,604 (GRCm39) |
I772S |
probably damaging |
Het |
| Brd10 |
A |
G |
19: 29,695,654 (GRCm39) |
S1347P |
possibly damaging |
Het |
| C2 |
T |
A |
17: 35,092,504 (GRCm39) |
I178F |
possibly damaging |
Het |
| Cacna1c |
G |
T |
6: 118,580,843 (GRCm39) |
A1416E |
probably damaging |
Het |
| Chst10 |
A |
G |
1: 38,910,810 (GRCm39) |
L118P |
probably damaging |
Het |
| Crybg1 |
G |
A |
10: 43,875,059 (GRCm39) |
T683I |
possibly damaging |
Het |
| Cul5 |
C |
T |
9: 53,546,350 (GRCm39) |
V314I |
probably damaging |
Het |
| Dnajc17 |
C |
A |
2: 119,010,415 (GRCm39) |
R211I |
probably benign |
Het |
| Emilin1 |
A |
G |
5: 31,071,264 (GRCm39) |
T16A |
probably benign |
Het |
| Ercc6l2 |
A |
C |
13: 64,020,320 (GRCm39) |
|
probably benign |
Het |
| Fsd2 |
T |
A |
7: 81,209,683 (GRCm39) |
D53V |
probably damaging |
Het |
| Grk3 |
A |
T |
5: 113,062,919 (GRCm39) |
W643R |
probably damaging |
Het |
| Hdgf |
G |
A |
3: 87,820,416 (GRCm39) |
A4T |
possibly damaging |
Het |
| Hnrnpr |
T |
A |
4: 136,054,593 (GRCm39) |
V182E |
probably damaging |
Het |
| Ipo13 |
A |
C |
4: 117,762,766 (GRCm39) |
L279R |
probably damaging |
Het |
| Itga9 |
C |
A |
9: 118,465,654 (GRCm39) |
N169K |
probably damaging |
Het |
| Jph3 |
A |
G |
8: 122,480,110 (GRCm39) |
T263A |
possibly damaging |
Het |
| Jph4 |
G |
T |
14: 55,345,783 (GRCm39) |
Q625K |
probably benign |
Het |
| Kctd3 |
A |
C |
1: 188,728,595 (GRCm39) |
|
probably null |
Het |
| Kif26b |
A |
T |
1: 178,742,954 (GRCm39) |
S570C |
probably damaging |
Het |
| Klhl5 |
G |
A |
5: 65,300,693 (GRCm39) |
W164* |
probably null |
Het |
| Lacc1 |
A |
T |
14: 77,268,239 (GRCm39) |
H357Q |
probably benign |
Het |
| Lama2 |
A |
G |
10: 27,063,841 (GRCm39) |
I1316T |
probably benign |
Het |
| Lcp2 |
C |
T |
11: 34,032,418 (GRCm39) |
P332L |
probably damaging |
Het |
| Map3k6 |
A |
T |
4: 132,978,257 (GRCm39) |
H1033L |
probably benign |
Het |
| Mfsd2b |
A |
G |
12: 4,916,234 (GRCm39) |
V252A |
probably benign |
Het |
| Myo16 |
T |
A |
8: 10,619,790 (GRCm39) |
I1447N |
probably benign |
Het |
| Myo19 |
G |
A |
11: 84,785,429 (GRCm39) |
R224H |
probably damaging |
Het |
| Myo5a |
C |
T |
9: 75,067,856 (GRCm39) |
H637Y |
probably benign |
Het |
| Nek10 |
C |
T |
14: 14,861,560 (GRCm38) |
R539C |
possibly damaging |
Het |
| Nfix |
A |
T |
8: 85,448,315 (GRCm39) |
V404E |
probably damaging |
Het |
| Nr1i2 |
T |
C |
16: 38,073,368 (GRCm39) |
R203G |
probably benign |
Het |
| Nup210l |
G |
A |
3: 90,079,420 (GRCm39) |
G968D |
probably damaging |
Het |
| Or10q1 |
A |
T |
19: 13,726,619 (GRCm39) |
I50F |
probably benign |
Het |
| Or2ag15 |
G |
T |
7: 106,340,972 (GRCm39) |
H56Q |
probably benign |
Het |
| Or8b37 |
A |
T |
9: 37,959,406 (GRCm39) |
H296L |
probably benign |
Het |
| Phlpp2 |
C |
T |
8: 110,634,145 (GRCm39) |
R242W |
probably damaging |
Het |
| Plcz1 |
A |
G |
6: 139,953,423 (GRCm39) |
F398S |
probably damaging |
Het |
| Ppfibp2 |
C |
A |
7: 107,343,384 (GRCm39) |
P808T |
probably damaging |
Het |
| Srpk2 |
T |
C |
5: 23,732,928 (GRCm39) |
K239E |
probably damaging |
Het |
| Svep1 |
A |
G |
4: 58,118,232 (GRCm39) |
V830A |
probably benign |
Het |
| Tesc |
A |
T |
5: 118,194,635 (GRCm39) |
I149F |
possibly damaging |
Het |
| Thsd7a |
A |
G |
6: 12,418,334 (GRCm39) |
W632R |
probably damaging |
Het |
| Tmprss9 |
A |
G |
10: 80,730,212 (GRCm39) |
D704G |
possibly damaging |
Het |
| Tob1 |
T |
C |
11: 94,105,423 (GRCm39) |
Y320H |
probably damaging |
Het |
| Trpm3 |
G |
T |
19: 22,965,280 (GRCm39) |
D1582Y |
probably damaging |
Het |
| Ttc28 |
A |
G |
5: 111,425,323 (GRCm39) |
K1716R |
probably benign |
Het |
| Uqcrfs1 |
A |
G |
13: 30,724,925 (GRCm39) |
V205A |
probably benign |
Het |
| Usp29 |
G |
A |
7: 6,965,334 (GRCm39) |
M392I |
probably benign |
Het |
| Uspl1 |
A |
T |
5: 149,125,159 (GRCm39) |
Y22F |
possibly damaging |
Het |
| Virma |
C |
A |
4: 11,548,783 (GRCm39) |
N1780K |
probably benign |
Het |
| Vmn1r56 |
C |
T |
7: 5,199,372 (GRCm39) |
A82T |
probably benign |
Het |
| Vmn2r5 |
A |
T |
3: 64,400,009 (GRCm39) |
C553S |
probably damaging |
Het |
| Vwce |
A |
T |
19: 10,641,976 (GRCm39) |
R901W |
probably damaging |
Het |
| Wdpcp |
C |
A |
11: 21,807,444 (GRCm39) |
|
probably null |
Het |
| Zfp423 |
A |
T |
8: 88,506,968 (GRCm39) |
C1000* |
probably null |
Het |
| Zscan20 |
A |
G |
4: 128,479,630 (GRCm39) |
F954L |
probably benign |
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCAGAGAGGATTTGAAACCACATGGC -3'
(R):5'- GATATGCTGAGAAGGGATTGCTCAGAC -3'
Sequencing Primer
(F):5'- TTGAAACCACATGGCTAGGATAC -3'
(R):5'- AAGTATCCTCCTGTTAGTCTTATTGG -3'
|
| Posted On |
2013-04-16 |
Incidental Mutation