Incidental Mutation 'R3424:Galnt10'
| ID |
267861 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Galnt10
|
| Ensembl Gene |
ENSMUSG00000020520 |
| Gene Name |
polypeptide N-acetylgalactosaminyltransferase 10 |
| Synonyms |
C330012K04Rik, GalNAc-T10, Galnt9 |
| MMRRC Submission |
040642-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3424 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
57536268-57678327 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 57536539 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 52
(V52A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104474
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066987]
[ENSMUST00000108846]
|
| AlphaFold |
Q6P9S7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000066987
AA Change: V52A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000065096
Gene: ENSMUSG00000020520
AA Change: V52A
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
12 |
31 |
N/A |
INTRINSIC |
|
low complexity region
|
38 |
52 |
N/A |
INTRINSIC |
|
Pfam:Glyco_tranf_2_3
|
145 |
376 |
4.7e-8 |
PFAM |
|
Pfam:Glycos_transf_2
|
148 |
333 |
1.9e-37 |
PFAM |
|
Pfam:Glyco_tranf_2_2
|
148 |
373 |
3e-7 |
PFAM |
|
Pfam:Glyco_transf_7C
|
303 |
376 |
2.3e-11 |
PFAM |
|
RICIN
|
460 |
590 |
4.29e-31 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108846
AA Change: V52A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000104474
Gene: ENSMUSG00000020520
AA Change: V52A
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
12 |
31 |
N/A |
INTRINSIC |
|
low complexity region
|
38 |
52 |
N/A |
INTRINSIC |
|
PDB:2D7R|A
|
53 |
133 |
5e-44 |
PDB |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142486
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the GalNAc polypeptide N-acetylgalactosaminyltransferases. These enzymes catalyze the first step in the synthesis of mucin-type oligosaccharides. These proteins transfer GalNAc from UDP-GalNAc to either serine or threonine residues of polypeptide acceptors. The protein encoded by this locus may have increased catalytic activity toward glycosylated peptides compared to activity toward non-glycosylated peptides.[provided by RefSeq, Apr 2010]
PHENOTYPE: Mice homozygous for a disruption in this gene display a normal phenotype. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6030469F06Rik |
G |
T |
12: 31,234,632 (GRCm39) |
|
noncoding transcript |
Het |
| Atp8b3 |
T |
C |
10: 80,372,181 (GRCm39) |
E16G |
probably benign |
Het |
| BC016579 |
T |
A |
16: 45,449,846 (GRCm39) |
I191F |
probably damaging |
Het |
| Cdh23 |
T |
G |
10: 60,212,660 (GRCm39) |
I1584L |
possibly damaging |
Het |
| Cep250 |
G |
A |
2: 155,823,381 (GRCm39) |
D1011N |
probably benign |
Het |
| Coro2b |
A |
T |
9: 62,336,590 (GRCm39) |
|
probably null |
Het |
| Csf3r |
A |
G |
4: 125,937,549 (GRCm39) |
D811G |
probably damaging |
Het |
| Dst |
T |
G |
1: 34,237,586 (GRCm39) |
|
probably benign |
Het |
| Gabrr1 |
T |
C |
4: 33,158,058 (GRCm39) |
L227P |
probably damaging |
Het |
| Golga4 |
A |
C |
9: 118,363,715 (GRCm39) |
D229A |
probably benign |
Het |
| Heatr5b |
G |
A |
17: 79,075,833 (GRCm39) |
T1495I |
possibly damaging |
Het |
| Hoxd4 |
A |
G |
2: 74,557,657 (GRCm39) |
Y12C |
probably damaging |
Het |
| Hps1 |
A |
T |
19: 42,748,952 (GRCm39) |
M522K |
possibly damaging |
Het |
| Lrrc8e |
A |
T |
8: 4,284,611 (GRCm39) |
I279F |
probably damaging |
Het |
| Mettl24 |
C |
T |
10: 40,559,637 (GRCm39) |
Q96* |
probably null |
Het |
| Muc2 |
A |
G |
7: 141,279,595 (GRCm39) |
N193S |
probably damaging |
Het |
| Mysm1 |
A |
G |
4: 94,853,558 (GRCm39) |
L347P |
probably benign |
Het |
| Or10g9 |
T |
A |
9: 39,911,830 (GRCm39) |
E231V |
probably damaging |
Het |
| Oxtr |
G |
T |
6: 112,454,191 (GRCm39) |
H24Q |
probably benign |
Het |
| Paxip1 |
A |
G |
5: 27,980,671 (GRCm39) |
|
probably benign |
Het |
| Pclo |
C |
T |
5: 14,730,432 (GRCm39) |
|
probably benign |
Het |
| Ros1 |
C |
A |
10: 52,004,512 (GRCm39) |
|
probably null |
Het |
| Slc18b1 |
T |
G |
10: 23,698,874 (GRCm39) |
M348R |
probably damaging |
Het |
| Slco4c1 |
A |
T |
1: 96,768,976 (GRCm39) |
S295R |
probably benign |
Het |
| Tmeff2 |
A |
G |
1: 51,018,776 (GRCm39) |
|
probably benign |
Het |
| Tspan31 |
T |
A |
10: 126,904,371 (GRCm39) |
Q141L |
probably benign |
Het |
| Virma |
G |
T |
4: 11,513,177 (GRCm39) |
E344* |
probably null |
Het |
| Zbtb17 |
G |
T |
4: 141,192,299 (GRCm39) |
G415C |
probably damaging |
Het |
|
| Other mutations in Galnt10 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01367:Galnt10
|
APN |
11 |
57,616,409 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02085:Galnt10
|
APN |
11 |
57,673,104 (GRCm39) |
missense |
probably benign |
|
|
IGL02154:Galnt10
|
APN |
11 |
57,675,531 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02418:Galnt10
|
APN |
11 |
57,671,994 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02810:Galnt10
|
APN |
11 |
57,616,412 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03070:Galnt10
|
APN |
11 |
57,616,408 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03191:Galnt10
|
APN |
11 |
57,662,326 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0257:Galnt10
|
UTSW |
11 |
57,671,904 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0483:Galnt10
|
UTSW |
11 |
57,672,048 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0681:Galnt10
|
UTSW |
11 |
57,660,366 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1102:Galnt10
|
UTSW |
11 |
57,671,871 (GRCm39) |
splice site |
probably benign |
|
|
R1436:Galnt10
|
UTSW |
11 |
57,662,295 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1959:Galnt10
|
UTSW |
11 |
57,656,443 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4445:Galnt10
|
UTSW |
11 |
57,674,517 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5183:Galnt10
|
UTSW |
11 |
57,660,414 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5369:Galnt10
|
UTSW |
11 |
57,656,573 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5838:Galnt10
|
UTSW |
11 |
57,671,882 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6045:Galnt10
|
UTSW |
11 |
57,674,619 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6148:Galnt10
|
UTSW |
11 |
57,675,474 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6442:Galnt10
|
UTSW |
11 |
57,656,448 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6851:Galnt10
|
UTSW |
11 |
57,656,458 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6873:Galnt10
|
UTSW |
11 |
57,672,045 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7013:Galnt10
|
UTSW |
11 |
57,656,410 (GRCm39) |
missense |
probably benign |
0.22 |
|
R7696:Galnt10
|
UTSW |
11 |
57,660,364 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7950:Galnt10
|
UTSW |
11 |
57,674,549 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8208:Galnt10
|
UTSW |
11 |
57,536,398 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R8264:Galnt10
|
UTSW |
11 |
57,673,032 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8743:Galnt10
|
UTSW |
11 |
57,675,409 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8924:Galnt10
|
UTSW |
11 |
57,674,681 (GRCm39) |
intron |
probably benign |
|
|
R9143:Galnt10
|
UTSW |
11 |
57,612,146 (GRCm39) |
missense |
probably benign |
|
|
R9508:Galnt10
|
UTSW |
11 |
57,673,040 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9760:Galnt10
|
UTSW |
11 |
57,656,514 (GRCm39) |
missense |
probably benign |
|
|
R9777:Galnt10
|
UTSW |
11 |
57,672,065 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Z1088:Galnt10
|
UTSW |
11 |
57,612,157 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
Z1177:Galnt10
|
UTSW |
11 |
57,627,826 (GRCm39) |
missense |
probably benign |
0.43 |
|
Z1186:Galnt10
|
UTSW |
11 |
57,656,514 (GRCm39) |
missense |
probably benign |
|
|
Z1187:Galnt10
|
UTSW |
11 |
57,656,514 (GRCm39) |
missense |
probably benign |
|
|
Z1188:Galnt10
|
UTSW |
11 |
57,656,514 (GRCm39) |
missense |
probably benign |
|
|
Z1189:Galnt10
|
UTSW |
11 |
57,656,514 (GRCm39) |
missense |
probably benign |
|
|
Z1190:Galnt10
|
UTSW |
11 |
57,656,514 (GRCm39) |
missense |
probably benign |
|
|
Z1191:Galnt10
|
UTSW |
11 |
57,656,514 (GRCm39) |
missense |
probably benign |
|
|
Z1192:Galnt10
|
UTSW |
11 |
57,656,514 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CTCAACCGTGCATCTGTTGG -3'
(R):5'- TTTTAGGCTGGAGCAAGAGC -3'
Sequencing Primer
(F):5'- TACTGCTGGCCGAACTGCTG -3'
(R):5'- GCAAGAGCCTGGATAAATCTTTGACC -3'
|
| Posted On |
2015-02-18 |
Incidental Mutation