Incidental Mutation 'R5228:Galnt16'
ID |
402746 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Galnt16
|
Ensembl Gene |
ENSMUSG00000021130 |
Gene Name |
polypeptide N-acetylgalactosaminyltransferase 16 |
Synonyms |
Galntl1, 5730405L21Rik |
MMRRC Submission |
042801-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.112)
|
Stock # |
R5228 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
12 |
Chromosomal Location |
80565245-80650672 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 80630822 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Valine
at position 300
(D300V)
|
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: D300V
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000021558 Gene: ENSMUSG00000021130 AA Change: D300V
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 |
noncoding transcript
Transcript: ENSMUST00000218648
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000218943
AA Change: D300V
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000219993
AA Change: D300V
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220065
|
Meta Mutation Damage Score |
0.7731 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.9%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actn2 |
T |
C |
13: 12,303,545 (GRCm39) |
|
probably null |
Het |
Agrn |
G |
T |
4: 156,251,403 (GRCm39) |
A1864D |
probably damaging |
Het |
Ahnak2 |
A |
G |
12: 112,741,820 (GRCm39) |
S751P |
probably benign |
Het |
Aifm2 |
T |
C |
10: 61,568,196 (GRCm39) |
V201A |
probably damaging |
Het |
C1rl |
C |
T |
6: 124,485,427 (GRCm39) |
A266V |
probably damaging |
Het |
Clec2h |
G |
T |
6: 128,651,749 (GRCm39) |
A153S |
probably benign |
Het |
Dnah7a |
T |
C |
1: 53,476,768 (GRCm39) |
|
probably null |
Het |
Frmpd1 |
T |
C |
4: 45,284,322 (GRCm39) |
S1048P |
probably damaging |
Het |
Gbp8 |
G |
T |
5: 105,164,051 (GRCm39) |
Q416K |
probably benign |
Het |
Gldn |
C |
T |
9: 54,242,003 (GRCm39) |
T319I |
probably damaging |
Het |
Gli2 |
T |
A |
1: 118,763,936 (GRCm39) |
D1405V |
probably damaging |
Het |
Gtsf2 |
A |
G |
15: 103,353,042 (GRCm39) |
Y45H |
probably damaging |
Het |
Hmcn1 |
C |
A |
1: 150,522,452 (GRCm39) |
V3483F |
probably benign |
Het |
Hspa12b |
T |
C |
2: 130,984,884 (GRCm39) |
V385A |
possibly damaging |
Het |
Ibtk |
T |
C |
9: 85,608,742 (GRCm39) |
E390G |
possibly damaging |
Het |
Inpp4b |
C |
G |
8: 82,494,744 (GRCm39) |
P53R |
probably damaging |
Het |
Ipo7 |
T |
A |
7: 109,645,969 (GRCm39) |
C504S |
probably benign |
Het |
Iws1 |
A |
G |
18: 32,221,314 (GRCm39) |
D549G |
probably damaging |
Het |
Kcnh4 |
T |
C |
11: 100,637,722 (GRCm39) |
D645G |
probably damaging |
Het |
Klhl40 |
A |
G |
9: 121,606,867 (GRCm39) |
E9G |
probably benign |
Het |
Lgr6 |
C |
T |
1: 134,921,748 (GRCm39) |
A199T |
probably damaging |
Het |
Morc2a |
T |
C |
11: 3,635,439 (GRCm39) |
V810A |
probably damaging |
Het |
Myo1e |
C |
A |
9: 70,229,640 (GRCm39) |
|
probably null |
Het |
N4bp2 |
T |
C |
5: 65,964,861 (GRCm39) |
V970A |
probably benign |
Het |
Pira2 |
T |
A |
7: 3,847,373 (GRCm39) |
K105N |
probably benign |
Het |
Pml |
G |
A |
9: 58,127,280 (GRCm39) |
R61C |
probably damaging |
Het |
Pms2 |
T |
C |
5: 143,860,415 (GRCm39) |
L76P |
probably damaging |
Het |
Rlbp1 |
T |
G |
7: 79,027,082 (GRCm39) |
T193P |
probably damaging |
Het |
Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
Sfi1 |
A |
ATCTTCCCAAAGCCAGTGG |
11: 3,103,384 (GRCm39) |
|
probably benign |
Homo |
Sh3rf2 |
T |
C |
18: 42,286,246 (GRCm39) |
S548P |
possibly damaging |
Het |
Slc4a4 |
A |
G |
5: 89,304,384 (GRCm39) |
D609G |
possibly damaging |
Het |
Slk |
A |
T |
19: 47,613,771 (GRCm39) |
I876F |
probably damaging |
Het |
Tcf20 |
G |
A |
15: 82,740,156 (GRCm39) |
P432S |
probably benign |
Het |
Tenm3 |
A |
C |
8: 48,689,390 (GRCm39) |
S2066A |
probably damaging |
Het |
Topors |
G |
C |
4: 40,262,367 (GRCm39) |
L306V |
probably damaging |
Het |
Trappc9 |
A |
T |
15: 72,929,844 (GRCm39) |
S171T |
probably damaging |
Het |
Ube2m |
G |
T |
7: 12,769,697 (GRCm39) |
|
probably benign |
Het |
Vmn1r37 |
T |
C |
6: 66,709,282 (GRCm39) |
*266Q |
probably null |
Het |
Vmn2r34 |
T |
C |
7: 7,675,340 (GRCm39) |
T683A |
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 |
|
IGL02614:Galnt16
|
APN |
12 |
80,623,337 (GRCm39) |
missense |
probably damaging |
0.99 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CAGAGAGGACTGTGACCATG -3'
(R):5'- CATTTAGCCATTTGGTCACAGG -3'
Sequencing Primer
(F):5'- TGGGAACAGTCGTGAGGCC -3'
(R):5'- TACCTCAAAGGGCCCTTATGATG -3'
|
Posted On |
2016-07-22 |