Incidental Mutation 'R6442:Galnt10'
| ID |
519066 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Galnt10
|
| Ensembl Gene |
ENSMUSG00000020520 |
| Gene Name |
polypeptide N-acetylgalactosaminyltransferase 10 |
| Synonyms |
C330012K04Rik, GalNAc-T10, Galnt9 |
| MMRRC Submission |
044580-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6442 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
57536268-57678327 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 57656448 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 211
(T211A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000065096
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066987]
|
| AlphaFold |
Q6P9S7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000066987
AA Change: T211A
PolyPhen 2
Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000065096
Gene: ENSMUSG00000020520
AA Change: T211A
| 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 |
noncoding transcript
Transcript: ENSMUST00000083872
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 93.9%
|
| Validation Efficiency |
100% (36/36) |
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp9a |
T |
C |
2: 168,491,481 (GRCm39) |
T695A |
probably benign |
Het |
| Btla |
A |
G |
16: 45,044,821 (GRCm39) |
N36D |
probably benign |
Het |
| Btla |
T |
C |
16: 45,070,713 (GRCm39) |
V224A |
possibly damaging |
Het |
| Cep126 |
T |
C |
9: 8,100,564 (GRCm39) |
N657D |
probably benign |
Het |
| Cops3 |
T |
A |
11: 59,718,780 (GRCm39) |
K171N |
probably benign |
Het |
| Crocc2 |
A |
G |
1: 93,112,775 (GRCm39) |
R193G |
probably benign |
Het |
| Dis3l |
T |
C |
9: 64,214,837 (GRCm39) |
I911V |
probably benign |
Het |
| Dpp6 |
G |
A |
5: 27,923,507 (GRCm39) |
|
probably null |
Het |
| Efcab5 |
A |
T |
11: 76,996,260 (GRCm39) |
Y1100* |
probably null |
Het |
| Fcgbpl1 |
C |
T |
7: 27,843,611 (GRCm39) |
T833I |
possibly damaging |
Het |
| Gdf9 |
A |
G |
11: 53,324,515 (GRCm39) |
T95A |
probably benign |
Het |
| Gm826 |
T |
A |
2: 160,169,328 (GRCm39) |
|
probably benign |
Het |
| Hsd17b6 |
C |
T |
10: 127,829,636 (GRCm39) |
|
probably null |
Het |
| Hyal4 |
A |
G |
6: 24,765,849 (GRCm39) |
N401S |
probably benign |
Het |
| Itga8 |
C |
T |
2: 12,234,954 (GRCm39) |
V435I |
probably benign |
Het |
| Nr1h5 |
G |
A |
3: 102,848,427 (GRCm39) |
P418L |
probably damaging |
Het |
| Or3a4 |
G |
A |
11: 73,945,505 (GRCm39) |
R27W |
probably benign |
Het |
| Or4f15 |
G |
A |
2: 111,813,874 (GRCm39) |
P182S |
probably damaging |
Het |
| Or4n4 |
T |
G |
14: 50,518,826 (GRCm39) |
K295Q |
probably damaging |
Het |
| Or6c214 |
C |
A |
10: 129,591,277 (GRCm39) |
G14V |
probably damaging |
Het |
| Or9i14 |
T |
C |
19: 13,792,992 (GRCm39) |
|
probably benign |
Het |
| Prdm11 |
G |
A |
2: 92,805,990 (GRCm39) |
A320V |
probably benign |
Het |
| Ptpn5 |
T |
C |
7: 46,732,831 (GRCm39) |
|
probably null |
Het |
| Reln |
T |
A |
5: 22,137,774 (GRCm39) |
I2473L |
probably benign |
Het |
| Rmnd5a |
A |
T |
6: 71,371,659 (GRCm39) |
C180* |
probably null |
Het |
| Rsrc1 |
C |
T |
3: 66,901,982 (GRCm39) |
P44L |
unknown |
Het |
| Sapcd2 |
T |
A |
2: 25,266,134 (GRCm39) |
|
probably benign |
Het |
| Sec24b |
A |
G |
3: 129,790,350 (GRCm39) |
L462S |
probably damaging |
Het |
| Slc26a9 |
A |
T |
1: 131,686,555 (GRCm39) |
Y425F |
possibly damaging |
Het |
| Sult1b1 |
T |
C |
5: 87,682,912 (GRCm39) |
D11G |
probably benign |
Het |
| Tgs1 |
T |
A |
4: 3,604,760 (GRCm39) |
Y727* |
probably null |
Het |
| Tmem80 |
T |
C |
7: 140,915,839 (GRCm39) |
V83A |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,551,978 (GRCm39) |
T31220A |
probably benign |
Het |
| Usp46 |
A |
T |
5: 74,177,377 (GRCm39) |
D167E |
probably benign |
Het |
| Vmn2r67 |
T |
A |
7: 84,805,046 (GRCm39) |
D22V |
possibly damaging |
Het |
| Zswim5 |
C |
A |
4: 116,808,202 (GRCm39) |
P262Q |
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 |
|
R3424:Galnt10
|
UTSW |
11 |
57,536,539 (GRCm39) |
missense |
probably benign |
|
|
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 |
|
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'- GCATCACTGAACCTCTGTGG -3'
(R):5'- TGTCACCTTGGAGTGGAAGG -3'
Sequencing Primer
(F):5'- TAGATGTTGGCCCCTGACC -3'
(R):5'- TGGAAGGCCACCCACCC -3'
|
| Posted On |
2018-05-24 |
Incidental Mutation