Incidental Mutation 'R3726:Galnt13'
| ID |
270773 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Galnt13
|
| Ensembl Gene |
ENSMUSG00000060988 |
| Gene Name |
polypeptide N-acetylgalactosaminyltransferase 13 |
| Synonyms |
pp-GalNAc-T13 |
| MMRRC Submission |
040717-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.111)
|
| Stock # |
R3726 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
54326329-55008321 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 54988669 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 497
(H497R)
|
| 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: H497R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000063464
Gene: ENSMUSG00000060988
AA Change: H497R
| 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: H533R
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000108253
Gene: ENSMUSG00000060988
AA Change: H533R
| 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: H497R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000108254
Gene: ENSMUSG00000060988
AA Change: H497R
| 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: H497R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000108255
Gene: ENSMUSG00000060988
AA Change: H497R
| 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 |
0.3587 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 94.9%
|
| Validation Efficiency |
100% (49/49) |
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930402K13Rik |
AGAGGAG |
AGAG |
X: 8,971,342 (GRCm39) |
|
probably benign |
Het |
| Caap1 |
A |
T |
4: 94,389,380 (GRCm39) |
V318D |
probably damaging |
Het |
| Camsap3 |
T |
C |
8: 3,653,785 (GRCm39) |
L485P |
probably damaging |
Het |
| Ccsap |
T |
C |
8: 124,586,100 (GRCm39) |
E17G |
possibly damaging |
Het |
| Cdk5rap2 |
C |
A |
4: 70,153,674 (GRCm39) |
K1716N |
possibly damaging |
Het |
| Coq3 |
T |
C |
4: 21,892,941 (GRCm39) |
|
probably benign |
Het |
| Daam2 |
T |
A |
17: 49,776,766 (GRCm39) |
D773V |
probably damaging |
Het |
| F11 |
A |
G |
8: 45,701,675 (GRCm39) |
S353P |
probably damaging |
Het |
| Fam209 |
T |
C |
2: 172,315,915 (GRCm39) |
S97P |
probably benign |
Het |
| Fam50b |
G |
A |
13: 34,930,869 (GRCm39) |
R115H |
probably damaging |
Het |
| Fbxo31 |
A |
G |
8: 122,305,248 (GRCm39) |
F83L |
probably damaging |
Het |
| Fsip2 |
G |
T |
2: 82,819,311 (GRCm39) |
A5015S |
possibly damaging |
Het |
| Ggnbp2 |
A |
G |
11: 84,744,920 (GRCm39) |
C201R |
possibly damaging |
Het |
| Gm8730 |
T |
C |
8: 103,591,664 (GRCm39) |
|
noncoding transcript |
Het |
| Gsr |
A |
G |
8: 34,161,565 (GRCm39) |
K124R |
probably benign |
Het |
| Hdgf |
T |
C |
3: 87,821,804 (GRCm39) |
S140P |
probably benign |
Het |
| Iqcg |
C |
T |
16: 32,849,411 (GRCm39) |
E292K |
probably damaging |
Het |
| Lamb1 |
C |
T |
12: 31,371,074 (GRCm39) |
A1375V |
probably null |
Het |
| Lct |
T |
C |
1: 128,231,963 (GRCm39) |
M629V |
probably damaging |
Het |
| Lonp1 |
A |
G |
17: 56,925,310 (GRCm39) |
|
probably benign |
Het |
| Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
| Or6c212 |
A |
T |
10: 129,558,984 (GRCm39) |
V143D |
probably damaging |
Het |
| Pcdhb9 |
T |
C |
18: 37,534,654 (GRCm39) |
L216P |
possibly damaging |
Het |
| Ppp3cb |
A |
G |
14: 20,581,010 (GRCm39) |
|
probably null |
Het |
| Ptprm |
G |
A |
17: 67,263,855 (GRCm39) |
P464L |
possibly damaging |
Het |
| Rars2 |
A |
G |
4: 34,645,787 (GRCm39) |
T235A |
probably benign |
Het |
| Rimkla |
A |
T |
4: 119,334,986 (GRCm39) |
|
probably null |
Het |
| Rnf216 |
A |
T |
5: 143,013,701 (GRCm39) |
I708N |
probably damaging |
Het |
| Six5 |
T |
A |
7: 18,830,855 (GRCm39) |
V494E |
possibly damaging |
Het |
| Slc43a2 |
A |
G |
11: 75,433,980 (GRCm39) |
|
probably benign |
Het |
| Slmap |
C |
A |
14: 26,148,397 (GRCm39) |
R671S |
probably damaging |
Het |
| Smarcal1 |
T |
C |
1: 72,665,755 (GRCm39) |
F751S |
possibly damaging |
Het |
| Sptan1 |
G |
A |
2: 29,908,431 (GRCm39) |
D1711N |
possibly damaging |
Het |
| Sptssa |
T |
C |
12: 54,703,180 (GRCm39) |
E30G |
probably damaging |
Het |
| Taf1c |
A |
G |
8: 120,329,809 (GRCm39) |
F111L |
probably damaging |
Het |
| Thbs1 |
A |
G |
2: 117,945,191 (GRCm39) |
I255V |
probably benign |
Het |
| Tmem19 |
A |
G |
10: 115,195,675 (GRCm39) |
|
probably benign |
Het |
| Tmem59l |
A |
G |
8: 70,939,951 (GRCm39) |
L6S |
unknown |
Het |
| Tmod1 |
T |
C |
4: 46,097,026 (GRCm39) |
V273A |
probably benign |
Het |
| Trpm8 |
A |
T |
1: 88,255,918 (GRCm39) |
Y191F |
probably benign |
Het |
| Ube4a |
T |
C |
9: 44,844,621 (GRCm39) |
I934V |
probably damaging |
Het |
| Vpreb3 |
G |
A |
10: 75,779,125 (GRCm39) |
|
probably null |
Het |
| Vwf |
G |
T |
6: 125,654,911 (GRCm39) |
|
probably benign |
Het |
| Wdr53 |
T |
C |
16: 32,075,538 (GRCm39) |
C248R |
probably benign |
Het |
| Zfp217 |
A |
G |
2: 169,961,130 (GRCm39) |
V399A |
probably damaging |
Het |
| Zfp980 |
G |
A |
4: 145,428,653 (GRCm39) |
G461S |
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 |
|
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'- CAGACGTTTCCAGAGACACCTC -3'
(R):5'- AAGTATCCTCCTGTTAGTCTTATTGGG -3'
Sequencing Primer
(F):5'- CTGCTAAAGAGTGTGTTTTCTCAACC -3'
(R):5'- CCAGATACCATAATTGCAAG -3'
|
| Posted On |
2015-03-18 |
Incidental Mutation