Incidental Mutation 'IGL03066:Galnt17'
| ID |
409711 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Galnt17
|
| Ensembl Gene |
ENSMUSG00000034040 |
| Gene Name |
polypeptide N-acetylgalactosaminyltransferase 17 |
| Synonyms |
Wbscr17, Gcap8, E330012B09Rik, Galnt19 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL03066
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
130903181-131336360 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 130929486 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 440
(S440R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000083187
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086023]
|
| AlphaFold |
Q7TT15 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000086023
AA Change: S440R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000083187
Gene: ENSMUSG00000034040
AA Change: S440R
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
7 |
26 |
N/A |
INTRINSIC |
|
Pfam:Glycos_transf_2
|
155 |
341 |
9.6e-31 |
PFAM |
|
Pfam:Glyco_tranf_2_2
|
155 |
394 |
7.8e-8 |
PFAM |
|
RICIN
|
465 |
594 |
9.77e-3 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201486
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an N-acetylgalactosaminyltransferase. This gene is located centromeric to the common deleted region in Williams-Beuren syndrome (WBS), a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23. This protein may play a role in membrane trafficking. [provided by RefSeq, Jan 2013]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Brd4 |
A |
C |
17: 32,418,062 (GRCm39) |
|
probably benign |
Het |
| Cd209d |
C |
A |
8: 3,928,437 (GRCm39) |
|
probably null |
Het |
| Cela2a |
T |
A |
4: 141,548,765 (GRCm39) |
I124F |
probably damaging |
Het |
| Cemip2 |
G |
A |
19: 21,801,207 (GRCm39) |
D775N |
possibly damaging |
Het |
| Cnot2 |
A |
T |
10: 116,335,262 (GRCm39) |
N245K |
probably benign |
Het |
| Cpt2 |
A |
G |
4: 107,765,183 (GRCm39) |
F148L |
probably benign |
Het |
| Ctsj |
A |
C |
13: 61,152,302 (GRCm39) |
H21Q |
possibly damaging |
Het |
| Cul4a |
A |
G |
8: 13,183,776 (GRCm39) |
N388S |
probably benign |
Het |
| Dnah12 |
A |
G |
14: 26,418,553 (GRCm39) |
D147G |
probably benign |
Het |
| Dnhd1 |
A |
G |
7: 105,369,089 (GRCm39) |
T4287A |
probably damaging |
Het |
| Dock10 |
C |
A |
1: 80,562,758 (GRCm39) |
C534F |
probably benign |
Het |
| Efcab14 |
A |
G |
4: 115,596,001 (GRCm39) |
E49G |
probably benign |
Het |
| Fancm |
G |
T |
12: 65,171,888 (GRCm39) |
E86* |
probably null |
Het |
| Hectd4 |
T |
A |
5: 121,503,116 (GRCm39) |
Y4362N |
possibly damaging |
Het |
| Lctl |
T |
G |
9: 64,025,017 (GRCm39) |
M1R |
probably null |
Het |
| Llgl1 |
A |
G |
11: 60,596,860 (GRCm39) |
T154A |
possibly damaging |
Het |
| Mink1 |
G |
T |
11: 70,499,715 (GRCm39) |
V750F |
probably benign |
Het |
| Mroh7 |
A |
G |
4: 106,549,595 (GRCm39) |
V950A |
possibly damaging |
Het |
| Myg1 |
G |
A |
15: 102,242,801 (GRCm39) |
|
probably benign |
Het |
| Or4x11 |
A |
T |
2: 89,867,778 (GRCm39) |
I172F |
probably damaging |
Het |
| Or6b2b |
T |
A |
1: 92,419,305 (GRCm39) |
R57S |
probably damaging |
Het |
| Or7d10 |
A |
G |
9: 19,831,667 (GRCm39) |
H54R |
probably benign |
Het |
| Pask |
A |
T |
1: 93,258,588 (GRCm39) |
S253R |
probably benign |
Het |
| Pkd1 |
C |
A |
17: 24,805,208 (GRCm39) |
H3253Q |
probably damaging |
Het |
| Pkd1l2 |
G |
A |
8: 117,792,484 (GRCm39) |
T436I |
probably benign |
Het |
| Rapgef4 |
A |
G |
2: 71,971,523 (GRCm39) |
|
probably benign |
Het |
| Rnf169 |
G |
T |
7: 99,574,760 (GRCm39) |
R612S |
possibly damaging |
Het |
| Sclt1 |
A |
T |
3: 41,672,278 (GRCm39) |
D104E |
probably benign |
Het |
| Shh |
G |
T |
5: 28,666,369 (GRCm39) |
D172E |
probably damaging |
Het |
| Sil1 |
G |
T |
18: 35,402,259 (GRCm39) |
|
probably benign |
Het |
| Slc19a3 |
A |
G |
1: 82,992,557 (GRCm39) |
I388T |
probably damaging |
Het |
| Spink5 |
A |
G |
18: 44,149,457 (GRCm39) |
Y946C |
probably damaging |
Het |
| Sulf1 |
A |
T |
1: 12,878,168 (GRCm39) |
I219F |
probably damaging |
Het |
| Tcf3 |
T |
C |
10: 80,248,879 (GRCm39) |
D529G |
probably damaging |
Het |
| Txnip |
G |
A |
3: 96,466,934 (GRCm39) |
E203K |
probably damaging |
Het |
| Ubc |
G |
T |
5: 125,465,327 (GRCm39) |
|
probably benign |
Het |
| Ubxn4 |
A |
T |
1: 128,188,591 (GRCm39) |
|
probably null |
Het |
| Usp16 |
T |
C |
16: 87,268,721 (GRCm39) |
V284A |
probably damaging |
Het |
| Vmn2r6 |
T |
A |
3: 64,472,574 (GRCm39) |
N49I |
probably damaging |
Het |
| Ythdf1 |
A |
T |
2: 180,553,339 (GRCm39) |
I292N |
probably damaging |
Het |
| Zfp128 |
A |
G |
7: 12,624,044 (GRCm39) |
I137M |
probably benign |
Het |
|
| Other mutations in Galnt17 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01690:Galnt17
|
APN |
5 |
131,114,734 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02312:Galnt17
|
APN |
5 |
131,335,371 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL02744:Galnt17
|
APN |
5 |
131,140,613 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0744:Galnt17
|
UTSW |
5 |
131,179,754 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1186:Galnt17
|
UTSW |
5 |
131,140,580 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1784:Galnt17
|
UTSW |
5 |
131,179,801 (GRCm39) |
missense |
probably benign |
0.35 |
|
R1909:Galnt17
|
UTSW |
5 |
131,140,676 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1969:Galnt17
|
UTSW |
5 |
131,179,782 (GRCm39) |
missense |
probably benign |
0.19 |
|
R2102:Galnt17
|
UTSW |
5 |
131,114,831 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2158:Galnt17
|
UTSW |
5 |
130,935,540 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2307:Galnt17
|
UTSW |
5 |
130,929,460 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2680:Galnt17
|
UTSW |
5 |
131,140,661 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4549:Galnt17
|
UTSW |
5 |
131,179,775 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4938:Galnt17
|
UTSW |
5 |
131,335,237 (GRCm39) |
missense |
probably benign |
|
|
R5030:Galnt17
|
UTSW |
5 |
130,905,351 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5134:Galnt17
|
UTSW |
5 |
130,992,873 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5499:Galnt17
|
UTSW |
5 |
130,929,466 (GRCm39) |
missense |
probably benign |
0.28 |
|
R5518:Galnt17
|
UTSW |
5 |
130,929,428 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5662:Galnt17
|
UTSW |
5 |
131,114,844 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5806:Galnt17
|
UTSW |
5 |
130,906,657 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6209:Galnt17
|
UTSW |
5 |
131,110,434 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6751:Galnt17
|
UTSW |
5 |
131,110,428 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7205:Galnt17
|
UTSW |
5 |
131,335,590 (GRCm39) |
start gained |
probably benign |
|
|
R7212:Galnt17
|
UTSW |
5 |
130,992,949 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R7529:Galnt17
|
UTSW |
5 |
131,335,218 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8881:Galnt17
|
UTSW |
5 |
130,906,635 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8976:Galnt17
|
UTSW |
5 |
130,935,543 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9480:Galnt17
|
UTSW |
5 |
130,935,576 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation