Incidental Mutation 'R7802:Galnt16'
| ID |
600581 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Galnt16
|
| Ensembl Gene |
ENSMUSG00000021130 |
| Gene Name |
polypeptide N-acetylgalactosaminyltransferase 16 |
| Synonyms |
Galntl1, 5730405L21Rik |
| MMRRC Submission |
045857-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.112)
|
| Stock # |
R7802 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
80565245-80650672 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 80628021 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Serine
at position 239
(I239S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021558
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021558]
[ENSMUST00000218943]
[ENSMUST00000219993]
|
| AlphaFold |
Q9JJ61 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000021558
AA Change: I239S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000021558
Gene: ENSMUSG00000021130
AA Change: I239S
| 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: I239S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000219993
AA Change: I239S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Meta Mutation Damage Score |
0.6981 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
97% (35/36) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abl1 |
T |
C |
2: 31,650,438 (GRCm39) |
V12A |
probably benign |
Het |
| Bahcc1 |
T |
C |
11: 120,165,518 (GRCm39) |
F983S |
probably benign |
Het |
| Cecr2 |
T |
C |
6: 120,720,808 (GRCm39) |
I312T |
probably benign |
Het |
| Col6a2 |
A |
T |
10: 76,439,632 (GRCm39) |
W711R |
probably damaging |
Het |
| Epb41l4a |
A |
G |
18: 33,961,227 (GRCm39) |
F436L |
probably benign |
Het |
| Epha1 |
C |
T |
6: 42,338,875 (GRCm39) |
R641Q |
possibly damaging |
Het |
| Ercc6 |
C |
A |
14: 32,239,260 (GRCm39) |
A116E |
probably damaging |
Het |
| Ermard |
A |
G |
17: 15,281,423 (GRCm39) |
E611G |
probably benign |
Het |
| Gna15 |
T |
C |
10: 81,350,175 (GRCm39) |
R76G |
probably benign |
Het |
| Herc2 |
A |
G |
7: 55,813,838 (GRCm39) |
Y2657C |
probably damaging |
Het |
| Mapkapk2 |
T |
C |
1: 130,984,639 (GRCm39) |
I238V |
possibly damaging |
Het |
| Med13l |
T |
C |
5: 118,866,655 (GRCm39) |
S570P |
probably benign |
Het |
| Mrap |
C |
T |
16: 90,546,247 (GRCm39) |
T112M |
probably benign |
Het |
| Nadsyn1 |
T |
C |
7: 143,359,763 (GRCm39) |
Q403R |
probably benign |
Het |
| Nostrin |
T |
C |
2: 69,019,356 (GRCm39) |
V467A |
probably benign |
Het |
| Palb2 |
A |
T |
7: 121,710,119 (GRCm39) |
|
probably null |
Het |
| Parp16 |
A |
G |
9: 65,137,179 (GRCm39) |
N135S |
probably benign |
Het |
| Pcnt |
A |
T |
10: 76,211,137 (GRCm39) |
|
probably null |
Het |
| Pde8b |
T |
C |
13: 95,237,446 (GRCm39) |
D116G |
probably damaging |
Het |
| Pierce1 |
TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC |
TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC |
2: 28,356,122 (GRCm39) |
|
probably benign |
Het |
| Psmc5 |
T |
C |
11: 106,152,538 (GRCm39) |
|
probably null |
Het |
| Rsf1 |
G |
T |
7: 97,310,979 (GRCm39) |
V570F |
|
Het |
| Rundc3a |
A |
G |
11: 102,290,835 (GRCm39) |
E306G |
probably benign |
Het |
| Serpinb6b |
C |
T |
13: 33,155,579 (GRCm39) |
|
|
Het |
| Setx |
A |
G |
2: 29,037,033 (GRCm39) |
T1173A |
probably benign |
Het |
| Slamf8 |
A |
G |
1: 172,415,677 (GRCm39) |
S54P |
probably damaging |
Het |
| Slc5a2 |
A |
C |
7: 127,870,970 (GRCm39) |
D570A |
possibly damaging |
Het |
| Slco5a1 |
T |
A |
1: 13,060,700 (GRCm39) |
Q7L |
possibly damaging |
Het |
| Stt3b |
G |
T |
9: 115,105,949 (GRCm39) |
S175R |
probably damaging |
Het |
| Taar6 |
T |
A |
10: 23,861,151 (GRCm39) |
I132F |
probably benign |
Het |
| Tenm3 |
A |
G |
8: 48,689,500 (GRCm39) |
V2029A |
probably damaging |
Het |
| Tgm4 |
A |
G |
9: 122,880,401 (GRCm39) |
|
probably benign |
Het |
| Tmt1a |
A |
T |
15: 100,203,182 (GRCm39) |
N152I |
possibly damaging |
Het |
| Togaram1 |
T |
A |
12: 65,013,758 (GRCm39) |
C336* |
probably null |
Het |
| Ttn |
G |
A |
2: 76,768,015 (GRCm39) |
T3028M |
unknown |
Het |
| Vmn2r25 |
A |
T |
6: 123,828,791 (GRCm39) |
I161N |
possibly damaging |
Het |
| Vwf |
T |
C |
6: 125,643,640 (GRCm39) |
C2394R |
|
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 |
|
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 |
|
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'- TGTGTGCAGTGATCTAGTCCAG -3'
(R):5'- TGTGAAGCACTTACAACCCCAG -3'
Sequencing Primer
(F):5'- AGTCCAGACTAGAGTTTTCCAGG -3'
(R):5'- CTCATCTTCACCGAGGAAGGATTG -3'
|
| Posted On |
2019-11-26 |
Incidental Mutation