Incidental Mutation 'R7889:Galnt13'
| ID |
609192 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Galnt13
|
| Ensembl Gene |
ENSMUSG00000060988 |
| Gene Name |
polypeptide N-acetylgalactosaminyltransferase 13 |
| Synonyms |
pp-GalNAc-T13 |
| MMRRC Submission |
045941-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.130)
|
| Stock # |
R7889 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
54326329-55008321 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 55002873 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 560
(D560G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108253
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068595]
[ENSMUST00000112634]
[ENSMUST00000112635]
[ENSMUST00000112636]
|
| AlphaFold |
Q8CF93 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000068595
AA Change: D524G
PolyPhen 2
Score 0.513 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000063464
Gene: ENSMUSG00000060988
AA Change: D524G
| 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: D560G
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000108253
Gene: ENSMUSG00000060988
AA Change: D560G
| 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 |
possibly damaging
Transcript: ENSMUST00000112635
AA Change: D524G
PolyPhen 2
Score 0.513 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000108254
Gene: ENSMUSG00000060988
AA Change: D524G
| 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 |
possibly damaging
Transcript: ENSMUST00000112636
AA Change: D524G
PolyPhen 2
Score 0.513 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000108255
Gene: ENSMUSG00000060988
AA Change: D524G
| 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 |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
100% (61/61) |
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afg2a |
A |
G |
3: 37,632,959 (GRCm39) |
D855G |
probably benign |
Het |
| Angptl3 |
C |
T |
4: 98,919,308 (GRCm39) |
L23F |
probably benign |
Het |
| Art2a |
C |
T |
7: 101,204,418 (GRCm39) |
S40N |
not run |
Het |
| Ash1l |
A |
G |
3: 88,873,345 (GRCm39) |
T43A |
probably benign |
Het |
| Atp1a2 |
G |
A |
1: 172,105,631 (GRCm39) |
|
probably null |
Het |
| Azi2 |
A |
G |
9: 117,890,983 (GRCm39) |
E336G |
probably benign |
Het |
| Cap2 |
A |
G |
13: 46,800,051 (GRCm39) |
H419R |
probably damaging |
Het |
| Ccdc14 |
T |
A |
16: 34,544,206 (GRCm39) |
S903T |
probably damaging |
Het |
| Cep72 |
A |
T |
13: 74,198,241 (GRCm39) |
S380T |
possibly damaging |
Het |
| Clca3a2 |
C |
A |
3: 144,516,574 (GRCm39) |
E341* |
probably null |
Het |
| Clcnkb |
T |
G |
4: 141,137,915 (GRCm39) |
I294L |
probably benign |
Het |
| Csnk2a1-ps3 |
G |
A |
1: 156,352,965 (GRCm39) |
A389T |
probably benign |
Het |
| Cyp2d9 |
T |
A |
15: 82,340,027 (GRCm39) |
M350K |
probably damaging |
Het |
| Dhx40 |
T |
G |
11: 86,689,793 (GRCm39) |
I266L |
probably benign |
Het |
| Dnah5 |
G |
T |
15: 28,448,560 (GRCm39) |
E4208* |
probably null |
Het |
| Dync2i1 |
T |
A |
12: 116,219,559 (GRCm39) |
K128* |
probably null |
Het |
| Ephb2 |
T |
C |
4: 136,498,353 (GRCm39) |
N242S |
probably damaging |
Het |
| Fam13b |
A |
T |
18: 34,590,744 (GRCm39) |
F478Y |
probably benign |
Het |
| Fastkd2 |
C |
G |
1: 63,774,619 (GRCm39) |
|
probably null |
Het |
| Fbxo40 |
T |
A |
16: 36,790,012 (GRCm39) |
D366V |
probably damaging |
Het |
| Fhod3 |
A |
T |
18: 24,903,551 (GRCm39) |
K95M |
probably damaging |
Het |
| Foxo3 |
T |
A |
10: 42,151,023 (GRCm39) |
Q136L |
probably benign |
Het |
| Gadl1 |
A |
T |
9: 115,783,883 (GRCm39) |
Q236L |
possibly damaging |
Het |
| Ghsr |
A |
G |
3: 27,426,315 (GRCm39) |
S124G |
probably benign |
Het |
| Gkn2 |
A |
G |
6: 87,355,268 (GRCm39) |
|
probably null |
Het |
| Glyctk |
T |
A |
9: 106,033,638 (GRCm39) |
R68W |
unknown |
Het |
| Gm5157 |
G |
A |
7: 20,918,641 (GRCm39) |
P301S |
unknown |
Het |
| Hdc |
A |
T |
2: 126,458,130 (GRCm39) |
I64N |
probably damaging |
Het |
| Helq |
A |
T |
5: 100,940,427 (GRCm39) |
|
probably null |
Het |
| Ighv1-43 |
T |
C |
12: 114,909,583 (GRCm39) |
Y113C |
probably damaging |
Het |
| Ipo9 |
T |
C |
1: 135,334,591 (GRCm39) |
T273A |
probably benign |
Het |
| Itga4 |
G |
A |
2: 79,146,389 (GRCm39) |
V774I |
probably benign |
Het |
| Itpr3 |
T |
C |
17: 27,335,751 (GRCm39) |
L2287P |
probably damaging |
Het |
| Llgl1 |
T |
A |
11: 60,598,138 (GRCm39) |
I394N |
probably damaging |
Het |
| Mta1 |
G |
A |
12: 113,095,308 (GRCm39) |
R487H |
probably benign |
Het |
| Neb |
T |
C |
2: 52,037,681 (GRCm39) |
D7049G |
probably benign |
Het |
| Nlrp4f |
G |
A |
13: 65,342,832 (GRCm39) |
S271F |
probably damaging |
Het |
| Noxo1 |
A |
G |
17: 24,918,356 (GRCm39) |
D172G |
probably damaging |
Het |
| Nup155 |
T |
A |
15: 8,150,991 (GRCm39) |
V347E |
probably damaging |
Het |
| Oaf |
G |
T |
9: 43,133,968 (GRCm39) |
A251E |
possibly damaging |
Het |
| Pds5b |
T |
A |
5: 150,715,637 (GRCm39) |
F1039I |
probably damaging |
Het |
| Pla2g12b |
T |
A |
10: 59,257,062 (GRCm39) |
|
probably null |
Het |
| Prmt3 |
A |
G |
7: 49,437,049 (GRCm39) |
D208G |
possibly damaging |
Het |
| Ptcd3 |
G |
A |
6: 71,865,592 (GRCm39) |
T441M |
probably damaging |
Het |
| Rabl6 |
A |
G |
2: 25,474,786 (GRCm39) |
|
probably null |
Het |
| Shtn1 |
T |
A |
19: 58,992,328 (GRCm39) |
I417F |
probably damaging |
Het |
| Slc20a2 |
T |
C |
8: 23,030,417 (GRCm39) |
S158P |
probably damaging |
Het |
| Sltm |
C |
G |
9: 70,493,955 (GRCm39) |
P802R |
possibly damaging |
Het |
| Spef2 |
T |
C |
15: 9,717,649 (GRCm39) |
Y232C |
probably damaging |
Het |
| Stard9 |
C |
T |
2: 120,534,942 (GRCm39) |
T3733I |
probably benign |
Het |
| Thrap3 |
A |
T |
4: 126,071,855 (GRCm39) |
F512L |
probably benign |
Het |
| Tmem150c |
A |
T |
5: 100,240,963 (GRCm39) |
I30K |
probably damaging |
Het |
| Tnnt1 |
C |
T |
7: 4,511,582 (GRCm39) |
A168T |
probably damaging |
Het |
| Trak2 |
A |
G |
1: 58,957,983 (GRCm39) |
L308P |
probably damaging |
Het |
| Trp53i11 |
T |
C |
2: 93,029,244 (GRCm39) |
L81P |
probably damaging |
Het |
| Usp16 |
T |
C |
16: 87,271,472 (GRCm39) |
Y344H |
probably benign |
Het |
| Vinac1 |
T |
C |
2: 128,878,914 (GRCm39) |
E1004G |
unknown |
Het |
| Xrcc5 |
G |
T |
1: 72,395,985 (GRCm39) |
V593L |
probably benign |
Het |
| Zcchc14 |
A |
T |
8: 122,331,634 (GRCm39) |
H576Q |
unknown |
Het |
| Zfp616 |
T |
A |
11: 73,976,271 (GRCm39) |
C847S |
probably damaging |
Het |
| Zfp626 |
A |
T |
7: 27,518,924 (GRCm39) |
Y635F |
probably benign |
Het |
| Zfp799 |
G |
A |
17: 33,038,473 (GRCm39) |
R598* |
probably null |
Het |
| Zfp831 |
A |
G |
2: 174,487,097 (GRCm39) |
K591E |
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 |
|
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 |
|
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 |
|
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'- AGCAAGACTCATACACAGTTCTG -3'
(R):5'- CCCTGTGACAAGAGGTTATTGAAG -3'
Sequencing Primer
(F):5'- ACTCATACACAGTTCTGTTTAAAAGC -3'
(R):5'- ACAAGGTGTGTTTTTCCCAAAC -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation