Incidental Mutation 'R8525:Galnt13'
| ID |
658743 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Galnt13
|
| Ensembl Gene |
ENSMUSG00000060988 |
| Gene Name |
polypeptide N-acetylgalactosaminyltransferase 13 |
| Synonyms |
pp-GalNAc-T13 |
| MMRRC Submission |
067950-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.111)
|
| Stock # |
R8525 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
54326329-55008321 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 54950488 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 390
(V390M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108255
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068595]
[ENSMUST00000112634]
[ENSMUST00000112635]
[ENSMUST00000112636]
|
| AlphaFold |
Q8CF93 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000068595
AA Change: V390M
PolyPhen 2
Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000063464
Gene: ENSMUSG00000060988
AA Change: V390M
| 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: V390M
PolyPhen 2
Score 0.231 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000108253
Gene: ENSMUSG00000060988
AA Change: V390M
| 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: V390M
PolyPhen 2
Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000108254
Gene: ENSMUSG00000060988
AA Change: V390M
| 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: V390M
PolyPhen 2
Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000108255
Gene: ENSMUSG00000060988
AA Change: V390M
| 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: 99.0%
|
| Validation Efficiency |
98% (49/50) |
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310022A10Rik |
A |
T |
7: 27,255,936 (GRCm39) |
N8Y |
possibly damaging |
Het |
| 4932414N04Rik |
A |
T |
2: 68,559,378 (GRCm39) |
D197V |
possibly damaging |
Het |
| Aar2 |
G |
A |
2: 156,397,837 (GRCm39) |
R283Q |
probably benign |
Het |
| Acsf2 |
T |
A |
11: 94,463,446 (GRCm39) |
I119F |
probably benign |
Het |
| Adamtsl1 |
C |
T |
4: 86,195,247 (GRCm39) |
P572S |
probably damaging |
Het |
| Adh5 |
A |
T |
3: 138,157,095 (GRCm39) |
I219F |
probably damaging |
Het |
| Arhgap23 |
T |
A |
11: 97,380,910 (GRCm39) |
F1098I |
probably damaging |
Het |
| Bicc1 |
G |
T |
10: 70,779,365 (GRCm39) |
H674Q |
possibly damaging |
Het |
| Ccdc39 |
C |
T |
3: 33,868,853 (GRCm39) |
R786H |
probably benign |
Het |
| Ccr1l1 |
A |
G |
9: 123,777,589 (GRCm39) |
I286T |
possibly damaging |
Het |
| Ccr9 |
T |
A |
9: 123,608,732 (GRCm39) |
M138K |
probably benign |
Het |
| Dbh |
T |
C |
2: 27,055,798 (GRCm39) |
F91L |
probably benign |
Het |
| Dip2a |
T |
A |
10: 76,110,115 (GRCm39) |
|
probably null |
Het |
| Eif3j1 |
A |
G |
2: 121,880,991 (GRCm39) |
I148V |
probably damaging |
Het |
| Etl4 |
A |
G |
2: 20,534,892 (GRCm39) |
R116G |
probably damaging |
Het |
| Exoc6 |
C |
A |
19: 37,597,440 (GRCm39) |
Q614K |
possibly damaging |
Het |
| Gabpb1 |
A |
G |
2: 126,494,194 (GRCm39) |
S144P |
possibly damaging |
Het |
| Gimap5 |
T |
C |
6: 48,729,501 (GRCm39) |
S24P |
probably benign |
Het |
| Gm4924 |
T |
A |
10: 82,213,701 (GRCm39) |
|
probably benign |
Het |
| Gucy1a2 |
T |
A |
9: 3,865,365 (GRCm39) |
I613K |
probably damaging |
Het |
| Hsp90ab1 |
T |
A |
17: 45,880,726 (GRCm39) |
E115D |
probably benign |
Het |
| Hspg2 |
T |
C |
4: 137,266,759 (GRCm39) |
V1949A |
probably damaging |
Het |
| Ice2 |
A |
G |
9: 69,318,698 (GRCm39) |
Y294C |
probably damaging |
Het |
| Il17ra |
T |
G |
6: 120,451,298 (GRCm39) |
Y157* |
probably null |
Het |
| Ipo13 |
T |
C |
4: 117,762,126 (GRCm39) |
E416G |
probably damaging |
Het |
| Large1 |
C |
T |
8: 73,564,120 (GRCm39) |
V549M |
probably damaging |
Het |
| Mmp17 |
A |
G |
5: 129,679,271 (GRCm39) |
D390G |
probably damaging |
Het |
| Mrps10 |
T |
G |
17: 47,683,371 (GRCm39) |
I102R |
probably damaging |
Het |
| Mycbp2 |
A |
G |
14: 103,450,155 (GRCm39) |
L1712P |
probably damaging |
Het |
| Nipal2 |
A |
G |
15: 34,584,815 (GRCm39) |
M251T |
probably damaging |
Het |
| Nup160 |
G |
A |
2: 90,548,440 (GRCm39) |
|
probably null |
Het |
| Or5ac19 |
A |
T |
16: 59,089,571 (GRCm39) |
V153D |
probably benign |
Het |
| Or6f2 |
T |
C |
7: 139,756,255 (GRCm39) |
I74T |
probably damaging |
Het |
| Pdcd11 |
G |
A |
19: 47,081,337 (GRCm39) |
D34N |
possibly damaging |
Het |
| Pigb |
G |
T |
9: 72,924,809 (GRCm39) |
P450Q |
probably damaging |
Het |
| Radil |
A |
C |
5: 142,474,256 (GRCm39) |
L730R |
probably damaging |
Het |
| Rsbn1 |
G |
T |
3: 103,821,538 (GRCm39) |
|
probably benign |
Het |
| Sec24b |
T |
C |
3: 129,805,467 (GRCm39) |
D264G |
probably damaging |
Het |
| Shank3 |
C |
G |
15: 89,431,973 (GRCm39) |
S906C |
probably damaging |
Het |
| Slc1a3 |
A |
G |
15: 8,672,459 (GRCm39) |
V340A |
possibly damaging |
Het |
| Slc1a3 |
A |
T |
15: 8,680,423 (GRCm39) |
I145N |
possibly damaging |
Het |
| Slc35f4 |
A |
T |
14: 49,541,681 (GRCm39) |
S208T |
possibly damaging |
Het |
| Spopfm1 |
A |
G |
3: 94,173,862 (GRCm39) |
N290S |
probably benign |
Het |
| Tmem132b |
A |
G |
5: 125,715,380 (GRCm39) |
D363G |
probably benign |
Het |
| Tox3 |
T |
G |
8: 91,001,309 (GRCm39) |
N34T |
probably damaging |
Het |
| Vmn1r231 |
T |
A |
17: 21,110,001 (GRCm39) |
I305L |
probably benign |
Het |
| Vps18 |
A |
G |
2: 119,120,711 (GRCm39) |
I57V |
possibly damaging |
Het |
| Zfhx4 |
T |
G |
3: 5,464,603 (GRCm39) |
L1587R |
probably damaging |
Het |
| Zfp112 |
A |
G |
7: 23,825,322 (GRCm39) |
N430S |
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 |
|
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 |
|
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'- GCACTGTGCAGCAAACATTTAC -3'
(R):5'- GCTCCTTAGAAATTGCTCCATTTG -3'
Sequencing Primer
(F):5'- CACTGTGCAGCAAACATTTACATTTC -3'
(R):5'- CCGGATAGATGTTTTCCAGG -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation