Incidental Mutation 'R4445:Galnt10'
| ID |
500629 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Galnt10
|
| Ensembl Gene |
ENSMUSG00000020520 |
| Gene Name |
polypeptide N-acetylgalactosaminyltransferase 10 |
| Synonyms |
C330012K04Rik, GalNAc-T10, Galnt9 |
| MMRRC Submission |
041151-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4445 (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 A
at 57674517 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 502
(V502D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000065096
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066987]
|
| AlphaFold |
Q6P9S7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000066987
AA Change: V502D
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000065096
Gene: ENSMUSG00000020520
AA Change: V502D
| 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: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.5%
|
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrg6 |
A |
G |
10: 14,285,507 (GRCm39) |
S1160P |
probably damaging |
Het |
| Adgrl1 |
T |
C |
8: 84,661,489 (GRCm39) |
L962P |
probably damaging |
Het |
| Arl6 |
A |
T |
16: 59,444,676 (GRCm39) |
I51K |
probably damaging |
Het |
| Calcoco1 |
A |
G |
15: 102,624,175 (GRCm39) |
|
probably null |
Het |
| Cd59a |
A |
G |
2: 103,941,163 (GRCm39) |
Q47R |
probably benign |
Het |
| Cdkl2 |
G |
A |
5: 92,168,168 (GRCm39) |
T342I |
probably benign |
Het |
| Cfap45 |
G |
A |
1: 172,362,794 (GRCm39) |
V262M |
probably benign |
Het |
| Chd8 |
A |
T |
14: 52,441,984 (GRCm39) |
|
probably null |
Het |
| Cntnap2 |
C |
T |
6: 46,736,785 (GRCm39) |
T737I |
probably benign |
Het |
| Cplane1 |
A |
G |
15: 8,281,672 (GRCm39) |
D2837G |
unknown |
Het |
| Crot |
T |
C |
5: 9,023,643 (GRCm39) |
H415R |
probably damaging |
Het |
| Cyp17a1 |
A |
G |
19: 46,656,462 (GRCm39) |
F411L |
probably damaging |
Het |
| Cyp4a12a |
G |
A |
4: 115,183,980 (GRCm39) |
|
probably null |
Het |
| Cysltr2 |
G |
A |
14: 73,267,333 (GRCm39) |
H126Y |
possibly damaging |
Het |
| Ddx56 |
A |
T |
11: 6,215,770 (GRCm39) |
|
probably null |
Het |
| Dync2i1 |
G |
A |
12: 116,171,335 (GRCm39) |
A967V |
probably damaging |
Het |
| Elmod1 |
T |
A |
9: 53,841,413 (GRCm39) |
D93V |
probably damaging |
Het |
| Epb41l2 |
T |
C |
10: 25,319,701 (GRCm39) |
L178P |
possibly damaging |
Het |
| Flacc1 |
A |
T |
1: 58,706,080 (GRCm39) |
I263K |
possibly damaging |
Het |
| Gm11735 |
T |
C |
11: 116,629,888 (GRCm39) |
|
noncoding transcript |
Het |
| H4c12 |
T |
C |
13: 21,934,513 (GRCm39) |
T55A |
possibly damaging |
Het |
| Homer3 |
G |
A |
8: 70,742,793 (GRCm39) |
|
probably null |
Het |
| Igsf9b |
A |
G |
9: 27,245,548 (GRCm39) |
T1172A |
probably benign |
Het |
| Ip6k3 |
A |
G |
17: 27,364,076 (GRCm39) |
I324T |
probably benign |
Het |
| Klkb1 |
C |
T |
8: 45,730,092 (GRCm39) |
S263N |
probably benign |
Het |
| Lrit3 |
A |
T |
3: 129,582,180 (GRCm39) |
C602* |
probably null |
Het |
| Lyst |
T |
C |
13: 13,884,149 (GRCm39) |
S2986P |
probably benign |
Het |
| Mapkapk5 |
T |
C |
5: 121,663,291 (GRCm39) |
T445A |
probably benign |
Het |
| Mms19 |
A |
T |
19: 41,952,372 (GRCm39) |
M119K |
possibly damaging |
Het |
| Myo7a |
T |
C |
7: 97,715,611 (GRCm39) |
D63G |
probably damaging |
Het |
| Nscme3l |
A |
T |
19: 5,553,022 (GRCm39) |
V253D |
probably damaging |
Het |
| Nsun2 |
G |
A |
13: 69,777,840 (GRCm39) |
|
probably null |
Het |
| Or13a24 |
C |
A |
7: 140,154,302 (GRCm39) |
P79T |
probably damaging |
Het |
| Or1ak2 |
T |
G |
2: 36,827,563 (GRCm39) |
L144R |
probably damaging |
Het |
| Or2ag1b |
T |
A |
7: 106,288,353 (GRCm39) |
Y195F |
possibly damaging |
Het |
| Or51t4 |
T |
C |
7: 102,598,005 (GRCm39) |
L101P |
possibly damaging |
Het |
| Pabpc2 |
T |
C |
18: 39,907,253 (GRCm39) |
F173L |
probably damaging |
Het |
| Rngtt |
A |
G |
4: 33,499,035 (GRCm39) |
I531V |
probably benign |
Het |
| Sacs |
A |
G |
14: 61,442,135 (GRCm39) |
M1394V |
probably benign |
Het |
| Setd1b |
G |
T |
5: 123,286,167 (GRCm39) |
E404D |
unknown |
Het |
| Slc25a54 |
G |
A |
3: 109,005,984 (GRCm39) |
R164H |
probably benign |
Het |
| Slc2a13 |
A |
G |
15: 91,234,223 (GRCm39) |
V371A |
possibly damaging |
Het |
| Spag9 |
C |
G |
11: 93,988,079 (GRCm39) |
L798V |
possibly damaging |
Het |
| Tbce |
A |
T |
13: 14,172,980 (GRCm39) |
S484T |
possibly damaging |
Het |
| Tcf12 |
C |
T |
9: 71,776,345 (GRCm39) |
R399Q |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,615,177 (GRCm39) |
V16847A |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,687,210 (GRCm39) |
|
probably benign |
Het |
| Vmn1r11 |
T |
G |
6: 57,114,515 (GRCm39) |
L23V |
probably benign |
Het |
| Vmn2r59 |
C |
T |
7: 41,691,874 (GRCm39) |
C541Y |
probably damaging |
Het |
| Vmn2r82 |
A |
C |
10: 79,214,874 (GRCm39) |
T286P |
possibly damaging |
Het |
| Vps13c |
T |
G |
9: 67,889,777 (GRCm39) |
|
probably null |
Het |
| Ypel1 |
A |
T |
16: 16,921,464 (GRCm39) |
Y73* |
probably null |
Het |
| Zdhhc6 |
T |
C |
19: 55,291,169 (GRCm39) |
I349V |
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 |
|
|
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'- GCACACTGCAAGTCCAACTG -3'
(R):5'- ATGCATGAGTCTGGGTTCC -3'
Sequencing Primer
(F):5'- CTGATGGAAACCAGTCTAACAGTACG -3'
(R):5'- ACAGCCTAGCCTAGCGAG -3'
|
| Posted On |
2017-12-01 |
Incidental Mutation