Incidental Mutation 'R4549:Galnt17'
| ID |
333892 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R4549 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
130903181-131336360 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 131179775 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 124
(L124P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125395
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086023]
[ENSMUST00000160609]
|
| AlphaFold |
Q7TT15 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000086023
AA Change: L124P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000083187
Gene: ENSMUSG00000034040
AA Change: L124P
| 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 damaging
Transcript: ENSMUST00000160609
AA Change: L124P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000125395
Gene: ENSMUSG00000034040
AA Change: L124P
| 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
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.7%
|
| 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: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adpgk |
G |
A |
9: 59,217,511 (GRCm39) |
V175I |
probably damaging |
Het |
| Aldh7a1 |
A |
G |
18: 56,665,066 (GRCm39) |
V371A |
probably benign |
Het |
| Ankrd60 |
T |
A |
2: 173,414,395 (GRCm39) |
T125S |
possibly damaging |
Het |
| Ap1m1 |
T |
A |
8: 72,994,064 (GRCm39) |
Y7N |
probably damaging |
Het |
| Carmil3 |
G |
A |
14: 55,743,121 (GRCm39) |
|
probably null |
Het |
| Fsip2 |
T |
A |
2: 82,819,972 (GRCm39) |
L5235H |
probably damaging |
Het |
| Gnpda2 |
T |
A |
5: 69,743,872 (GRCm39) |
E54D |
probably benign |
Het |
| Kcnd3 |
C |
T |
3: 105,566,082 (GRCm39) |
A421V |
probably damaging |
Het |
| Ly6f |
T |
A |
15: 75,143,579 (GRCm39) |
N95K |
probably benign |
Het |
| Macf1 |
T |
C |
4: 123,367,486 (GRCm39) |
D2425G |
possibly damaging |
Het |
| Prkdc |
G |
A |
16: 15,554,734 (GRCm39) |
E2152K |
possibly damaging |
Het |
| Serpinb6e |
T |
A |
13: 34,017,214 (GRCm39) |
T269S |
possibly damaging |
Het |
| Smg1 |
A |
G |
7: 117,758,906 (GRCm39) |
|
probably benign |
Het |
| Snapc1 |
C |
A |
12: 74,017,053 (GRCm39) |
D9E |
probably damaging |
Het |
| Syt8 |
G |
T |
7: 141,993,199 (GRCm39) |
V35L |
probably benign |
Het |
| Top2b |
T |
G |
14: 16,409,189 (GRCm38) |
I777M |
probably damaging |
Het |
| Trappc10 |
T |
C |
10: 78,067,292 (GRCm39) |
R49G |
probably damaging |
Het |
| Vmn1r81 |
A |
T |
7: 11,993,749 (GRCm39) |
F286L |
probably damaging |
Het |
| Vwa5a |
A |
T |
9: 38,649,221 (GRCm39) |
K656N |
probably benign |
Het |
| Zfp438 |
A |
G |
18: 5,214,073 (GRCm39) |
V295A |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGCAATGAAGTCCTTGACTGAC -3'
(R):5'- TGCTGTACTAAGAAGCTCTATGATG -3'
Sequencing Primer
(F):5'- GCAATGAAGTCCTTGACTGACTGATC -3'
(R):5'- AAGCTCTATGATGCATCTAGGG -3'
|
| Posted On |
2015-08-18 |
Incidental Mutation