Incidental Mutation 'IGL02614:Galnt16'
| ID |
300595 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Galnt16
|
| Ensembl Gene |
ENSMUSG00000021130 |
| Gene Name |
polypeptide N-acetylgalactosaminyltransferase 16 |
| Synonyms |
Galntl1, 5730405L21Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.107)
|
| Stock # |
IGL02614
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
80565245-80650672 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 80623337 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 166
(S166P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151829
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021558]
[ENSMUST00000218943]
[ENSMUST00000219993]
|
| AlphaFold |
Q9JJ61 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000021558
AA Change: S166P
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000021558
Gene: ENSMUSG00000021130
AA Change: S166P
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
7 |
25 |
N/A |
INTRINSIC |
|
low complexity region
|
29 |
46 |
N/A |
INTRINSIC |
|
Pfam:Glycos_transf_2
|
126 |
308 |
1.2e-24 |
PFAM |
|
Pfam:Glyco_tranf_2_2
|
126 |
356 |
1.6e-9 |
PFAM |
|
Pfam:Glyco_transf_7C
|
277 |
352 |
2.2e-10 |
PFAM |
|
Blast:RICIN
|
362 |
395 |
1e-10 |
BLAST |
|
RICIN
|
432 |
555 |
1.41e-8 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000218943
AA Change: S166P
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000219993
AA Change: S166P
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aasdh |
A |
T |
5: 77,044,215 (GRCm39) |
|
probably benign |
Het |
| Acadsb |
A |
G |
7: 131,026,357 (GRCm39) |
T67A |
probably benign |
Het |
| Aff2 |
A |
G |
X: 68,907,693 (GRCm39) |
D1225G |
possibly damaging |
Het |
| Atp2a2 |
T |
C |
5: 122,627,366 (GRCm39) |
D133G |
probably benign |
Het |
| Cacul1 |
A |
T |
19: 60,551,661 (GRCm39) |
M187K |
possibly damaging |
Het |
| Celf4 |
A |
G |
18: 25,637,207 (GRCm39) |
Y263H |
probably damaging |
Het |
| Cmbl |
G |
T |
15: 31,589,830 (GRCm39) |
V187F |
probably damaging |
Het |
| Epha1 |
T |
C |
6: 42,337,491 (GRCm39) |
N896S |
probably benign |
Het |
| Fbxo27 |
G |
A |
7: 28,396,201 (GRCm39) |
|
probably null |
Het |
| Gm1110 |
A |
G |
9: 26,832,010 (GRCm39) |
V47A |
probably benign |
Het |
| Gmnn |
A |
G |
13: 24,944,137 (GRCm39) |
|
probably benign |
Het |
| Gpbp1 |
T |
C |
13: 111,573,007 (GRCm39) |
I382V |
probably benign |
Het |
| Gpr87 |
C |
A |
3: 59,086,738 (GRCm39) |
V256L |
probably damaging |
Het |
| Il4ra |
C |
A |
7: 125,174,962 (GRCm39) |
S390* |
probably null |
Het |
| Itprid1 |
A |
T |
6: 55,945,262 (GRCm39) |
D661V |
probably damaging |
Het |
| Lrrc47 |
T |
C |
4: 154,103,392 (GRCm39) |
|
probably null |
Het |
| Lrriq4 |
A |
T |
3: 30,709,788 (GRCm39) |
L362F |
probably damaging |
Het |
| Lrrtm4 |
A |
T |
6: 79,998,827 (GRCm39) |
N79Y |
probably benign |
Het |
| Nr1i2 |
T |
A |
16: 38,074,118 (GRCm39) |
H165L |
probably damaging |
Het |
| Or10g1b |
T |
C |
14: 52,627,627 (GRCm39) |
E201G |
probably damaging |
Het |
| Phf11a |
T |
A |
14: 59,516,817 (GRCm39) |
T214S |
possibly damaging |
Het |
| Prr14l |
A |
T |
5: 32,987,887 (GRCm39) |
I536K |
possibly damaging |
Het |
| Rpn1 |
T |
A |
6: 88,079,087 (GRCm39) |
I510N |
probably benign |
Het |
| Sall4 |
A |
T |
2: 168,597,805 (GRCm39) |
L20Q |
probably null |
Het |
| Sema3f |
T |
C |
9: 107,559,710 (GRCm39) |
E759G |
probably benign |
Het |
| Slc5a1 |
T |
C |
5: 33,311,945 (GRCm39) |
S446P |
probably benign |
Het |
| Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
| Tcn2 |
C |
A |
11: 3,876,158 (GRCm39) |
S90I |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,542,331 (GRCm39) |
T31806A |
possibly damaging |
Het |
| Ubr1 |
T |
C |
2: 120,701,460 (GRCm39) |
|
probably benign |
Het |
| Vac14 |
T |
G |
8: 111,361,750 (GRCm39) |
L214R |
probably damaging |
Het |
| Vmn2r58 |
T |
C |
7: 41,486,553 (GRCm39) |
K781E |
probably damaging |
Het |
| Vmn2r92 |
T |
C |
17: 18,387,503 (GRCm39) |
|
probably benign |
Het |
| Zfp518a |
G |
A |
19: 40,903,061 (GRCm39) |
G997R |
probably damaging |
Het |
| Zfp609 |
G |
A |
9: 65,610,072 (GRCm39) |
P964S |
probably damaging |
Het |
|
| Other mutations in Galnt16 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01916:Galnt16
|
APN |
12 |
80,639,264 (GRCm39) |
splice site |
probably null |
|
|
PIT4504001:Galnt16
|
UTSW |
12 |
80,639,191 (GRCm39) |
nonsense |
probably null |
|
|
R0032:Galnt16
|
UTSW |
12 |
80,639,243 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1109:Galnt16
|
UTSW |
12 |
80,637,405 (GRCm39) |
missense |
probably benign |
|
|
R1560:Galnt16
|
UTSW |
12 |
80,648,566 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R1595:Galnt16
|
UTSW |
12 |
80,637,410 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1991:Galnt16
|
UTSW |
12 |
80,630,430 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2103:Galnt16
|
UTSW |
12 |
80,630,430 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4866:Galnt16
|
UTSW |
12 |
80,630,851 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4972:Galnt16
|
UTSW |
12 |
80,619,103 (GRCm39) |
nonsense |
probably null |
|
|
R5140:Galnt16
|
UTSW |
12 |
80,628,073 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5228:Galnt16
|
UTSW |
12 |
80,630,822 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5414:Galnt16
|
UTSW |
12 |
80,630,822 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5592:Galnt16
|
UTSW |
12 |
80,635,293 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6433:Galnt16
|
UTSW |
12 |
80,622,677 (GRCm39) |
missense |
probably benign |
0.44 |
|
R6634:Galnt16
|
UTSW |
12 |
80,565,944 (GRCm39) |
start codon destroyed |
probably null |
0.95 |
|
R7021:Galnt16
|
UTSW |
12 |
80,626,826 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7534:Galnt16
|
UTSW |
12 |
80,643,909 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7567:Galnt16
|
UTSW |
12 |
80,628,084 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7681:Galnt16
|
UTSW |
12 |
80,637,413 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7802:Galnt16
|
UTSW |
12 |
80,628,021 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7983:Galnt16
|
UTSW |
12 |
80,648,598 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8678:Galnt16
|
UTSW |
12 |
80,630,822 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8750:Galnt16
|
UTSW |
12 |
80,644,879 (GRCm39) |
missense |
probably benign |
0.18 |
|
R8944:Galnt16
|
UTSW |
12 |
80,623,314 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9386:Galnt16
|
UTSW |
12 |
80,644,880 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1177:Galnt16
|
UTSW |
12 |
80,648,584 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Galnt16
|
UTSW |
12 |
80,619,121 (GRCm39) |
missense |
probably benign |
0.14 |
|
| Posted On |
2015-04-16 |
Incidental Mutation