Incidental Mutation 'R7696:Galnt10'
ID |
593667 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Galnt10
|
Ensembl Gene |
ENSMUSG00000020520 |
Gene Name |
polypeptide N-acetylgalactosaminyltransferase 10 |
Synonyms |
C330012K04Rik, GalNAc-T10, Galnt9 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7696 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
57536268-57678327 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 57660364 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 267
(D267E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000065096
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066987]
|
AlphaFold |
Q6P9S7 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000066987
AA Change: D267E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000065096 Gene: ENSMUSG00000020520 AA Change: D267E
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
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: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts12 |
C |
T |
15: 11,258,224 (GRCm39) |
R512C |
probably damaging |
Het |
Afap1l2 |
C |
A |
19: 56,902,918 (GRCm39) |
V754L |
probably damaging |
Het |
Atp5f1a |
T |
A |
18: 77,868,686 (GRCm39) |
I393N |
probably damaging |
Het |
Bbs1 |
C |
T |
19: 4,941,017 (GRCm39) |
|
probably null |
Het |
Bglap2 |
A |
T |
3: 88,285,923 (GRCm39) |
L12Q |
unknown |
Het |
Bsn |
C |
T |
9: 107,991,700 (GRCm39) |
V1351I |
probably damaging |
Het |
Cbx1 |
T |
C |
11: 96,697,468 (GRCm39) |
V147A |
probably damaging |
Het |
Cep192 |
T |
A |
18: 67,953,434 (GRCm39) |
S484T |
probably damaging |
Het |
Col18a1 |
A |
T |
10: 76,921,106 (GRCm39) |
I298K |
unknown |
Het |
Cyp27a1 |
A |
T |
1: 74,771,198 (GRCm39) |
I128L |
probably benign |
Het |
Dhdds |
C |
T |
4: 133,724,225 (GRCm39) |
A30T |
probably damaging |
Het |
Dnajc12 |
A |
G |
10: 63,242,911 (GRCm39) |
N143S |
probably benign |
Het |
Eno3 |
T |
G |
11: 70,552,809 (GRCm39) |
N363K |
probably benign |
Het |
Galr2 |
C |
T |
11: 116,173,993 (GRCm39) |
R208C |
probably damaging |
Het |
Hif3a |
G |
A |
7: 16,788,712 (GRCm39) |
R82C |
unknown |
Het |
Hspg2 |
T |
A |
4: 137,239,277 (GRCm39) |
F401L |
possibly damaging |
Het |
Iars1 |
G |
T |
13: 49,860,214 (GRCm39) |
W455L |
probably damaging |
Het |
Irf1 |
C |
T |
11: 53,667,162 (GRCm39) |
H294Y |
probably benign |
Het |
Itgal |
T |
C |
7: 126,929,356 (GRCm39) |
L1091P |
probably damaging |
Het |
Lrrc37a |
T |
G |
11: 103,389,263 (GRCm39) |
D2054A |
probably benign |
Het |
Map3k2 |
T |
A |
18: 32,353,647 (GRCm39) |
H472Q |
probably benign |
Het |
Myo18b |
T |
C |
5: 112,840,158 (GRCm39) |
D2545G |
probably damaging |
Het |
Nle1 |
G |
T |
11: 82,795,792 (GRCm39) |
Y218* |
probably null |
Het |
Pdlim5 |
A |
T |
3: 141,983,623 (GRCm39) |
S377T |
probably benign |
Het |
Plch1 |
A |
T |
3: 63,662,726 (GRCm39) |
M259K |
probably benign |
Het |
Pou6f1 |
A |
G |
15: 100,481,979 (GRCm39) |
V268A |
probably benign |
Het |
Prn |
C |
A |
2: 131,788,365 (GRCm39) |
L7I |
unknown |
Het |
Prpf6 |
C |
T |
2: 181,250,035 (GRCm39) |
A65V |
possibly damaging |
Het |
Rarres1 |
A |
T |
3: 67,398,345 (GRCm39) |
F138L |
probably benign |
Het |
Ros1 |
C |
T |
10: 52,018,379 (GRCm39) |
V781M |
probably damaging |
Het |
Sec16a |
C |
A |
2: 26,305,645 (GRCm39) |
|
probably null |
Het |
Slc44a4 |
G |
A |
17: 35,147,676 (GRCm39) |
G606D |
probably damaging |
Het |
Slco1a4 |
A |
T |
6: 141,756,237 (GRCm39) |
C538* |
probably null |
Het |
Slco1c1 |
A |
G |
6: 141,513,336 (GRCm39) |
Y537C |
probably benign |
Het |
Speg |
T |
A |
1: 75,405,805 (GRCm39) |
L3003Q |
probably damaging |
Het |
Ssr3 |
A |
G |
3: 65,299,886 (GRCm39) |
S25P |
probably benign |
Het |
Stard13 |
C |
A |
5: 150,984,267 (GRCm39) |
R623L |
probably damaging |
Het |
Tbc1d5 |
A |
G |
17: 51,181,605 (GRCm39) |
I376T |
probably damaging |
Het |
Tigd4 |
C |
A |
3: 84,502,224 (GRCm39) |
F380L |
possibly damaging |
Het |
Tmc4 |
T |
C |
7: 3,672,574 (GRCm39) |
K489E |
probably damaging |
Het |
Tmem114 |
C |
T |
16: 8,242,353 (GRCm39) |
R55H |
probably benign |
Het |
Tmem168 |
A |
G |
6: 13,602,937 (GRCm39) |
I143T |
probably benign |
Het |
Tmem87b |
C |
T |
2: 128,683,237 (GRCm39) |
T397I |
probably damaging |
Het |
Tom1l1 |
C |
A |
11: 90,563,741 (GRCm39) |
R173L |
probably benign |
Het |
Trim10 |
G |
A |
17: 37,182,644 (GRCm39) |
R170K |
probably damaging |
Het |
Usp6nl |
T |
A |
2: 6,429,134 (GRCm39) |
Y222N |
probably damaging |
Het |
Vmn2r26 |
A |
T |
6: 124,038,494 (GRCm39) |
I690F |
possibly damaging |
Het |
Zfp1006 |
A |
G |
8: 129,945,794 (GRCm39) |
Y344H |
probably benign |
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 |
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 |
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'- ACTGTCTAAGGAACTGCTTCC -3'
(R):5'- AAGCGAAGACTCCCAGTGTG -3'
Sequencing Primer
(F):5'- AACTGCTTCCTACAGTGCTGGAG -3'
(R):5'- TAGGTAGAGGCCCTGGTTACCAC -3'
|
Posted On |
2019-11-12 |