Incidental Mutation 'R2307:Galnt17'
| ID |
244627 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Galnt17
|
| Ensembl Gene |
ENSMUSG00000034040 |
| Gene Name |
polypeptide N-acetylgalactosaminyltransferase 17 |
| Synonyms |
Wbscr17, Gcap8, E330012B09Rik, Galnt19 |
| MMRRC Submission |
040306-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2307 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
130903181-131336360 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 130929460 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Serine
at position 449
(Y449S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000083187
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086023]
|
| AlphaFold |
Q7TT15 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000086023
AA Change: Y449S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000083187
Gene: ENSMUSG00000034040
AA Change: Y449S
| 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 |
- 1x: 99.4%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 93.9%
|
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot5 |
T |
C |
12: 84,122,375 (GRCm39) |
F320L |
possibly damaging |
Het |
| Alox12e |
T |
C |
11: 70,212,087 (GRCm39) |
K170R |
probably damaging |
Het |
| Ano2 |
T |
C |
6: 125,969,849 (GRCm39) |
S722P |
probably benign |
Het |
| Cep192 |
A |
G |
18: 67,946,970 (GRCm39) |
Y215C |
probably benign |
Het |
| Ces2g |
A |
G |
8: 105,695,044 (GRCm39) |
N555S |
probably benign |
Het |
| Cfap58 |
C |
T |
19: 47,950,925 (GRCm39) |
Q429* |
probably null |
Het |
| Clcnkb |
A |
G |
4: 141,139,640 (GRCm39) |
S121P |
probably damaging |
Het |
| Cltb |
T |
A |
13: 54,746,564 (GRCm39) |
E67D |
probably damaging |
Het |
| Ddhd1 |
A |
T |
14: 45,846,447 (GRCm39) |
L581Q |
probably damaging |
Het |
| Dnajc3 |
T |
C |
14: 119,190,633 (GRCm39) |
|
probably null |
Het |
| Fgf14 |
T |
A |
14: 124,221,234 (GRCm39) |
N190I |
probably damaging |
Het |
| Grin3a |
C |
T |
4: 49,793,033 (GRCm39) |
|
probably null |
Het |
| Gxylt2 |
A |
G |
6: 100,764,173 (GRCm39) |
N286S |
probably damaging |
Het |
| H2-K2 |
A |
G |
17: 34,216,113 (GRCm39) |
V120A |
probably benign |
Het |
| Inpp5f |
T |
C |
7: 128,296,034 (GRCm39) |
V168A |
probably damaging |
Het |
| Kif1a |
G |
T |
1: 93,006,491 (GRCm39) |
H59N |
probably damaging |
Het |
| Krt24 |
T |
C |
11: 99,175,456 (GRCm39) |
Q193R |
possibly damaging |
Het |
| Krtap5-4 |
C |
A |
7: 141,857,351 (GRCm39) |
S7* |
probably null |
Het |
| Ltn1 |
A |
G |
16: 87,229,312 (GRCm39) |
|
probably null |
Het |
| Mcm2 |
G |
A |
6: 88,869,990 (GRCm39) |
R60C |
probably damaging |
Het |
| Mep1b |
A |
T |
18: 21,221,632 (GRCm39) |
D194V |
probably damaging |
Het |
| Mettl25b |
A |
T |
3: 87,834,162 (GRCm39) |
M171K |
possibly damaging |
Het |
| Orc3 |
C |
T |
4: 34,586,503 (GRCm39) |
V382M |
probably damaging |
Het |
| Pclo |
T |
A |
5: 14,728,665 (GRCm39) |
|
probably benign |
Het |
| Pcolce |
T |
C |
5: 137,607,356 (GRCm39) |
H45R |
probably damaging |
Het |
| Prf1 |
T |
C |
10: 61,138,942 (GRCm39) |
V300A |
possibly damaging |
Het |
| Prorp |
T |
C |
12: 55,351,101 (GRCm39) |
F137L |
probably damaging |
Het |
| Prss53 |
T |
C |
7: 127,490,037 (GRCm39) |
I18V |
probably benign |
Het |
| Rnase2b |
A |
G |
14: 51,400,188 (GRCm39) |
T90A |
probably benign |
Het |
| Rpap1 |
G |
A |
2: 119,614,247 (GRCm39) |
P50L |
probably benign |
Het |
| Rsf1 |
CG |
CGACGGCGGGG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Sec16b |
G |
A |
1: 157,363,062 (GRCm39) |
V298I |
probably damaging |
Het |
| Smarcd3 |
C |
T |
5: 24,800,746 (GRCm39) |
R156Q |
probably damaging |
Het |
| St6galnac2 |
C |
T |
11: 116,572,731 (GRCm39) |
A242T |
probably damaging |
Het |
| Syce1l |
T |
C |
8: 114,369,937 (GRCm39) |
|
probably null |
Het |
| Tcam1 |
T |
C |
11: 106,174,940 (GRCm39) |
C132R |
probably damaging |
Het |
| Trpa1 |
T |
C |
1: 14,982,605 (GRCm39) |
I84V |
probably benign |
Het |
| Ttn |
G |
A |
2: 76,717,342 (GRCm39) |
R455* |
probably null |
Het |
| Ubl5 |
T |
A |
9: 20,557,876 (GRCm39) |
|
probably benign |
Het |
| Ubr2 |
T |
A |
17: 47,277,141 (GRCm39) |
K779* |
probably null |
Het |
| Ugt1a10 |
A |
G |
1: 87,983,669 (GRCm39) |
I156V |
probably benign |
Het |
| Unc13b |
A |
G |
4: 43,239,854 (GRCm39) |
T3513A |
probably damaging |
Het |
| Vmn1r20 |
C |
T |
6: 57,409,121 (GRCm39) |
T149I |
probably benign |
Het |
| Zfp804a |
T |
A |
2: 82,087,201 (GRCm39) |
D343E |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTTATGACTTGGGCAGATAACAAAGC -3'
(R):5'- TACCTCAAAGCATTCCAGGCTC -3'
Sequencing Primer
(F):5'- AAGCCACGGTCCCATTCCTG -3'
(R):5'- GGCTCCAACTCCCCTAGATG -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation