Incidental Mutation 'IGL02312:Galnt17'
| ID |
287848 |
| 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 # |
IGL02312
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
130903181-131336360 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 131335371 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 23
(I23N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125395
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086023]
[ENSMUST00000160609]
|
| AlphaFold |
Q7TT15 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000086023
AA Change: I23N
PolyPhen 2
Score 0.091 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000083187
Gene: ENSMUSG00000034040
AA Change: I23N
| 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 |
probably benign
Transcript: ENSMUST00000160609
AA Change: I23N
PolyPhen 2
Score 0.091 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000125395
Gene: ENSMUSG00000034040
AA Change: I23N
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
7 |
26 |
N/A |
INTRINSIC |
|
Pfam:Glycos_transf_2
|
155 |
341 |
4.9e-29 |
PFAM |
|
Pfam:Glyco_tranf_2_2
|
155 |
367 |
3e-8 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160807
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161228
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162966
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts19 |
T |
A |
18: 59,060,369 (GRCm39) |
V454E |
probably damaging |
Het |
| Atp7b |
G |
T |
8: 22,484,786 (GRCm39) |
Q1424K |
probably damaging |
Het |
| Bicra |
T |
C |
7: 15,727,066 (GRCm39) |
D30G |
possibly damaging |
Het |
| Cdhr2 |
A |
G |
13: 54,865,701 (GRCm39) |
D233G |
probably null |
Het |
| Clint1 |
C |
T |
11: 45,784,883 (GRCm39) |
T294M |
probably damaging |
Het |
| Cntnap5c |
C |
T |
17: 58,445,694 (GRCm39) |
T578I |
probably benign |
Het |
| Col12a1 |
G |
T |
9: 79,588,797 (GRCm39) |
T1106N |
probably damaging |
Het |
| Csta3 |
A |
G |
16: 36,030,847 (GRCm39) |
|
probably benign |
Het |
| Dnah10 |
A |
G |
5: 124,896,430 (GRCm39) |
Y3598C |
probably damaging |
Het |
| Dnaja3 |
A |
G |
16: 4,512,300 (GRCm39) |
T235A |
probably benign |
Het |
| Eif2s1 |
T |
C |
12: 78,926,790 (GRCm39) |
I180T |
probably damaging |
Het |
| Ergic1 |
C |
A |
17: 26,848,601 (GRCm39) |
P108Q |
probably damaging |
Het |
| Fat2 |
T |
A |
11: 55,161,085 (GRCm39) |
D3215V |
probably damaging |
Het |
| Gpr20 |
C |
T |
15: 73,568,275 (GRCm39) |
R38Q |
probably benign |
Het |
| Grin2b |
T |
C |
6: 135,716,088 (GRCm39) |
D743G |
probably damaging |
Het |
| H2-T5 |
T |
C |
17: 36,476,299 (GRCm39) |
I350V |
probably benign |
Het |
| Hmbs |
A |
G |
9: 44,252,510 (GRCm39) |
|
probably null |
Het |
| Hunk |
T |
C |
16: 90,272,829 (GRCm39) |
Y302H |
probably damaging |
Het |
| Mybph |
A |
T |
1: 134,125,188 (GRCm39) |
I239F |
probably damaging |
Het |
| Ncoa3 |
G |
A |
2: 165,899,120 (GRCm39) |
A821T |
probably benign |
Het |
| Nf1 |
A |
G |
11: 79,335,474 (GRCm39) |
I979V |
possibly damaging |
Het |
| Or5w14 |
T |
C |
2: 87,541,353 (GRCm39) |
E299G |
probably benign |
Het |
| Or7h8 |
A |
T |
9: 20,124,377 (GRCm39) |
H244L |
probably damaging |
Het |
| Pdilt |
G |
A |
7: 119,118,890 (GRCm39) |
T53M |
probably benign |
Het |
| Pdlim1 |
T |
C |
19: 40,211,505 (GRCm39) |
T263A |
probably benign |
Het |
| Pik3cg |
A |
T |
12: 32,244,820 (GRCm39) |
M878K |
possibly damaging |
Het |
| Plod1 |
T |
C |
4: 148,010,614 (GRCm39) |
K279R |
probably benign |
Het |
| Plxna4 |
T |
C |
6: 32,142,052 (GRCm39) |
T1602A |
possibly damaging |
Het |
| Rb1cc1 |
T |
A |
1: 6,335,847 (GRCm39) |
|
probably null |
Het |
| Rnls |
G |
A |
19: 33,145,783 (GRCm39) |
T112I |
probably benign |
Het |
| Ropn1 |
G |
A |
16: 34,497,647 (GRCm39) |
V180I |
probably benign |
Het |
| Rptor |
T |
C |
11: 119,737,741 (GRCm39) |
Y605H |
possibly damaging |
Het |
| Sidt2 |
T |
C |
9: 45,858,299 (GRCm39) |
Y80C |
probably benign |
Het |
| Slit1 |
A |
T |
19: 41,590,119 (GRCm39) |
V1389E |
possibly damaging |
Het |
| Spz1 |
G |
A |
13: 92,712,393 (GRCm39) |
P28S |
probably benign |
Het |
| Sult1c2 |
T |
A |
17: 54,269,458 (GRCm39) |
M257L |
probably benign |
Het |
| Tent2 |
C |
T |
13: 93,312,041 (GRCm39) |
V220I |
probably benign |
Het |
| Tm2d3 |
T |
C |
7: 65,348,917 (GRCm39) |
|
probably null |
Het |
| Uqcr10 |
T |
C |
11: 4,654,153 (GRCm39) |
|
probably null |
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 |
|
|
IGL02744:Galnt17
|
APN |
5 |
131,140,613 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03066:Galnt17
|
APN |
5 |
130,929,486 (GRCm39) |
missense |
probably benign |
|
|
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 |
2015-04-16 |
Incidental Mutation