Incidental Mutation 'R8539:Galnt13'
ID |
673227 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Galnt13
|
Ensembl Gene |
ENSMUSG00000060988 |
Gene Name |
polypeptide N-acetylgalactosaminyltransferase 13 |
Synonyms |
pp-GalNAc-T13 |
MMRRC Submission |
068505-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.111)
|
Stock # |
R8539 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
54326329-55008321 bp(+) (GRCm39) |
Type of Mutation |
splice site (3 bp from exon) |
DNA Base Change (assembly) |
A to T
at 54823584 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000108255
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068595]
[ENSMUST00000112634]
[ENSMUST00000112635]
[ENSMUST00000112636]
|
AlphaFold |
Q8CF93 |
Predicted Effect |
probably null
Transcript: ENSMUST00000068595
|
SMART Domains |
Protein: ENSMUSP00000063464 Gene: ENSMUSG00000060988
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 null
Transcript: ENSMUST00000112634
|
SMART Domains |
Protein: ENSMUSP00000108253 Gene: ENSMUSG00000060988
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 null
Transcript: ENSMUST00000112635
|
SMART Domains |
Protein: ENSMUSP00000108254 Gene: ENSMUSG00000060988
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 null
Transcript: ENSMUST00000112636
|
SMART Domains |
Protein: ENSMUSP00000108255 Gene: ENSMUSG00000060988
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 |
0.9756 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
Validation Efficiency |
100% (38/38) |
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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akr1c6 |
G |
A |
13: 4,484,474 (GRCm39) |
|
probably null |
Het |
Amz1 |
T |
C |
5: 140,734,412 (GRCm39) |
L215S |
probably benign |
Het |
Aplnr |
A |
G |
2: 84,967,251 (GRCm39) |
D92G |
probably benign |
Het |
Arpc5 |
A |
G |
1: 152,642,552 (GRCm39) |
D26G |
probably damaging |
Het |
Cntrob |
G |
A |
11: 69,211,652 (GRCm39) |
R191C |
possibly damaging |
Het |
Ephb4 |
A |
G |
5: 137,356,117 (GRCm39) |
D242G |
probably damaging |
Het |
Eppk1 |
C |
T |
15: 75,994,319 (GRCm39) |
R854Q |
probably benign |
Het |
Hcrt |
T |
A |
11: 100,652,051 (GRCm39) |
|
probably benign |
Het |
Hnf1a |
A |
G |
5: 115,108,576 (GRCm39) |
|
probably null |
Het |
Hykk |
A |
G |
9: 54,844,444 (GRCm39) |
S170G |
probably benign |
Het |
Igf1r |
C |
A |
7: 67,653,596 (GRCm39) |
Q45K |
probably benign |
Het |
Klhl8 |
C |
T |
5: 104,015,392 (GRCm39) |
V511I |
probably damaging |
Het |
Loxl3 |
A |
T |
6: 83,026,507 (GRCm39) |
M488L |
probably benign |
Het |
Myo7a |
G |
A |
7: 97,721,668 (GRCm39) |
P1221S |
probably damaging |
Het |
Myom2 |
A |
T |
8: 15,164,254 (GRCm39) |
I1050F |
probably benign |
Het |
Ncapd3 |
T |
G |
9: 26,959,520 (GRCm39) |
C319G |
probably benign |
Het |
Ndufaf5 |
C |
A |
2: 140,025,894 (GRCm39) |
T151K |
possibly damaging |
Het |
Notch3 |
A |
T |
17: 32,375,329 (GRCm39) |
D364E |
possibly damaging |
Het |
Nudt21 |
G |
A |
8: 94,763,601 (GRCm39) |
|
probably benign |
Het |
Or2p2 |
T |
C |
13: 21,257,343 (GRCm39) |
I43V |
probably benign |
Het |
Pkd1l3 |
T |
A |
8: 110,362,919 (GRCm39) |
V1060E |
probably damaging |
Het |
Plxnd1 |
G |
C |
6: 115,939,768 (GRCm39) |
P1404A |
possibly damaging |
Het |
Ret |
A |
G |
6: 118,152,770 (GRCm39) |
V523A |
possibly damaging |
Het |
Ror1 |
T |
C |
4: 100,299,084 (GRCm39) |
I819T |
possibly damaging |
Het |
Scn10a |
T |
A |
9: 119,467,840 (GRCm39) |
K767* |
probably null |
Het |
Sema5a |
T |
A |
15: 32,618,989 (GRCm39) |
W506R |
probably damaging |
Het |
Sorbs1 |
G |
C |
19: 40,365,244 (GRCm39) |
R180G |
probably benign |
Het |
Sult1b1 |
C |
A |
5: 87,681,838 (GRCm39) |
V67F |
possibly damaging |
Het |
Suz12 |
T |
A |
11: 79,889,904 (GRCm39) |
D13E |
probably damaging |
Het |
Tap1 |
C |
T |
17: 34,408,409 (GRCm39) |
A216V |
probably benign |
Het |
Tlr3 |
A |
G |
8: 45,851,553 (GRCm39) |
L448P |
probably damaging |
Het |
Tnik |
G |
A |
3: 28,596,152 (GRCm39) |
V182M |
probably damaging |
Het |
Ttn |
A |
G |
2: 76,736,778 (GRCm39) |
F4329L |
probably benign |
Het |
Usp21 |
C |
T |
1: 171,111,246 (GRCm39) |
E396K |
probably damaging |
Het |
Vmn1r122 |
A |
T |
7: 20,867,281 (GRCm39) |
I258N |
possibly damaging |
Het |
Vmn2r106 |
C |
A |
17: 20,499,271 (GRCm39) |
R213S |
probably benign |
Het |
Vmn2r111 |
A |
T |
17: 22,790,274 (GRCm39) |
M244K |
probably benign |
Het |
Zeb1 |
T |
A |
18: 5,748,784 (GRCm39) |
V117D |
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 |
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 |
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'- ATCTGGCAATGTGGAGGTTC -3'
(R):5'- AAAGCCCCGATGTTCATGCTTC -3'
Sequencing Primer
(F):5'- CTTTGGAGATTGTGACTTGCTCTC -3'
(R):5'- GAGGATGCAAAAATGTTTCATTGG -3'
|
Posted On |
2021-05-20 |