Incidental Mutation 'IGL02744:Galnt17'
| ID |
306021 |
| 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 # |
IGL02744
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
130903181-131336360 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 131140613 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 168
(I168T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000083187
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086023]
[ENSMUST00000160609]
|
| AlphaFold |
Q7TT15 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000086023
AA Change: I168T
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000083187
Gene: ENSMUSG00000034040
AA Change: I168T
| 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 |
possibly damaging
Transcript: ENSMUST00000160609
AA Change: I168T
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000125395
Gene: ENSMUSG00000034040
AA Change: I168T
| 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
|
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930564D02Rik |
A |
G |
3: 104,985,852 (GRCm39) |
M89V |
unknown |
Het |
| Actl11 |
C |
A |
9: 107,807,061 (GRCm39) |
H461Q |
probably benign |
Het |
| Aoc1l1 |
A |
G |
6: 48,952,249 (GRCm39) |
E58G |
probably benign |
Het |
| Aox4 |
A |
T |
1: 58,294,711 (GRCm39) |
R973S |
possibly damaging |
Het |
| Arhgef10 |
C |
T |
8: 14,980,198 (GRCm39) |
A146V |
probably benign |
Het |
| Cep350 |
A |
T |
1: 155,807,279 (GRCm39) |
S713T |
probably damaging |
Het |
| Epha5 |
T |
C |
5: 84,255,848 (GRCm39) |
I458V |
probably benign |
Het |
| Gli3 |
T |
C |
13: 15,788,471 (GRCm39) |
|
probably null |
Het |
| Gm11110 |
T |
A |
17: 57,399,693 (GRCm39) |
|
probably benign |
Het |
| Gm8206 |
T |
C |
14: 6,022,488 (GRCm38) |
I4V |
possibly damaging |
Het |
| Golga1 |
A |
G |
2: 38,908,486 (GRCm39) |
S713P |
probably damaging |
Het |
| Ing5 |
T |
C |
1: 93,744,210 (GRCm39) |
M172T |
probably damaging |
Het |
| Lyn |
A |
G |
4: 3,738,808 (GRCm39) |
T27A |
probably benign |
Het |
| Or2b28 |
A |
G |
13: 21,531,164 (GRCm39) |
Y22C |
probably damaging |
Het |
| Pou5f1 |
T |
C |
17: 35,820,311 (GRCm39) |
V40A |
probably damaging |
Het |
| Pramel13 |
A |
T |
4: 144,119,493 (GRCm39) |
L358Q |
probably damaging |
Het |
| Prdm16 |
A |
G |
4: 154,429,910 (GRCm39) |
L353P |
probably damaging |
Het |
| Psg18 |
T |
A |
7: 18,083,327 (GRCm39) |
Q276L |
probably benign |
Het |
| Ralgapb |
A |
C |
2: 158,288,071 (GRCm39) |
Q369H |
probably damaging |
Het |
| Slc44a4 |
A |
G |
17: 35,146,776 (GRCm39) |
N300D |
probably damaging |
Het |
| Slc6a15 |
A |
T |
10: 103,253,894 (GRCm39) |
E610V |
probably benign |
Het |
| Slc8a2 |
T |
C |
7: 15,878,954 (GRCm39) |
V480A |
possibly damaging |
Het |
| Speer1j |
C |
T |
5: 11,555,340 (GRCm39) |
T103I |
possibly damaging |
Het |
| Spg7 |
T |
C |
8: 123,820,400 (GRCm39) |
F617S |
probably damaging |
Het |
| Srcap |
A |
G |
7: 127,133,838 (GRCm39) |
D863G |
probably damaging |
Het |
| Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
| Suox |
T |
C |
10: 128,507,086 (GRCm39) |
E314G |
probably benign |
Het |
| Tln2 |
T |
A |
9: 67,136,658 (GRCm39) |
K1276* |
probably null |
Het |
| Tmem72 |
A |
G |
6: 116,672,451 (GRCm39) |
L130P |
probably damaging |
Het |
| Ttll1 |
T |
C |
15: 83,373,778 (GRCm39) |
Y345C |
probably benign |
Het |
| Ush2a |
A |
T |
1: 188,090,914 (GRCm39) |
|
probably null |
Het |
| Xpo6 |
G |
A |
7: 125,707,620 (GRCm39) |
|
probably benign |
Het |
| Zc3h14 |
A |
T |
12: 98,751,234 (GRCm39) |
Y512F |
possibly damaging |
Het |
| Zfp438 |
A |
T |
18: 5,214,760 (GRCm39) |
M66K |
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 |
|
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