Incidental Mutation 'R0013:Galnt18'
| ID |
19107 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Galnt18
|
| Ensembl Gene |
ENSMUSG00000038296 |
| Gene Name |
polypeptide N-acetylgalactosaminyltransferase 18 |
| Synonyms |
Galntl4, 2900011G21Rik |
| MMRRC Submission |
038308-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0013 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
111070868-111379184 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 111153664 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 320
(N320S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102274
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049430]
[ENSMUST00000106663]
|
| AlphaFold |
Q8K1B9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000049430
AA Change: N320S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000043636
Gene: ENSMUSG00000038296
AA Change: N320S
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
13 |
35 |
N/A |
INTRINSIC |
|
low complexity region
|
79 |
91 |
N/A |
INTRINSIC |
|
low complexity region
|
128 |
141 |
N/A |
INTRINSIC |
|
Pfam:Glycos_transf_2
|
157 |
345 |
1.1e-25 |
PFAM |
|
RICIN
|
485 |
614 |
8.3e-6 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000106663
AA Change: N320S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000102274
Gene: ENSMUSG00000038296
AA Change: N320S
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
13 |
35 |
N/A |
INTRINSIC |
|
low complexity region
|
79 |
91 |
N/A |
INTRINSIC |
|
low complexity region
|
128 |
141 |
N/A |
INTRINSIC |
|
Pfam:Glycos_transf_2
|
157 |
344 |
1.4e-23 |
PFAM |
|
RICIN
|
470 |
599 |
8.3e-6 |
SMART |
|
| Meta Mutation Damage Score |
0.0923 |
| Coding Region Coverage |
- 1x: 79.5%
- 3x: 71.1%
- 10x: 47.6%
- 20x: 27.2%
|
| Validation Efficiency |
94% (77/82) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adnp2 |
A |
T |
18: 80,172,960 (GRCm39) |
V483D |
probably damaging |
Het |
| Agl |
A |
T |
3: 116,570,257 (GRCm39) |
C911* |
probably null |
Het |
| Arap2 |
G |
A |
5: 62,840,827 (GRCm39) |
L680F |
probably damaging |
Het |
| C2cd3 |
T |
A |
7: 100,065,269 (GRCm39) |
L685H |
probably damaging |
Het |
| Dhx33 |
A |
T |
11: 70,884,461 (GRCm39) |
F448L |
probably damaging |
Het |
| Dnmbp |
G |
A |
19: 43,890,670 (GRCm39) |
P366S |
probably benign |
Het |
| Elmod1 |
G |
A |
9: 53,820,185 (GRCm39) |
|
probably benign |
Het |
| Glp2r |
C |
A |
11: 67,600,538 (GRCm39) |
G437V |
possibly damaging |
Het |
| Gm9936 |
A |
G |
5: 114,995,408 (GRCm39) |
|
probably benign |
Het |
| Helz2 |
C |
A |
2: 180,874,552 (GRCm39) |
G1981C |
probably damaging |
Het |
| Ints11 |
T |
C |
4: 155,971,625 (GRCm39) |
F315S |
probably damaging |
Het |
| Itga11 |
A |
T |
9: 62,683,895 (GRCm39) |
N1059Y |
possibly damaging |
Het |
| Kdm5d |
A |
T |
Y: 941,715 (GRCm39) |
K1305N |
probably benign |
Homo |
| Mboat7 |
A |
G |
7: 3,686,821 (GRCm39) |
S340P |
probably damaging |
Het |
| Mex3c |
G |
A |
18: 73,723,622 (GRCm39) |
A572T |
probably benign |
Het |
| Myo9a |
A |
T |
9: 59,767,489 (GRCm39) |
|
probably benign |
Het |
| Myog |
T |
A |
1: 134,217,973 (GRCm39) |
H60Q |
probably damaging |
Het |
| Pgm5 |
A |
C |
19: 24,710,904 (GRCm39) |
|
probably null |
Het |
| Plb1 |
T |
A |
5: 32,506,959 (GRCm39) |
|
probably benign |
Het |
| Ppm1e |
A |
G |
11: 87,139,884 (GRCm39) |
|
probably benign |
Het |
| Prss46 |
G |
T |
9: 110,679,123 (GRCm39) |
S108I |
probably damaging |
Het |
| Ptma |
C |
T |
1: 86,457,498 (GRCm39) |
|
probably benign |
Het |
| Ptprc |
T |
C |
1: 138,041,297 (GRCm39) |
|
probably null |
Het |
| Rrn3 |
T |
A |
16: 13,630,977 (GRCm39) |
D604E |
possibly damaging |
Het |
| Scn4a |
A |
G |
11: 106,239,231 (GRCm39) |
|
probably benign |
Het |
| Sis |
A |
G |
3: 72,817,809 (GRCm39) |
L1468P |
possibly damaging |
Het |
| Slit3 |
A |
G |
11: 35,598,745 (GRCm39) |
M1450V |
probably benign |
Het |
| Tppp |
A |
G |
13: 74,169,479 (GRCm39) |
K73R |
possibly damaging |
Het |
| Tut4 |
T |
A |
4: 108,388,152 (GRCm39) |
|
probably benign |
Het |
| Uba7 |
A |
T |
9: 107,855,448 (GRCm39) |
Y375F |
probably damaging |
Het |
| Ugcg |
T |
C |
4: 59,213,931 (GRCm39) |
L171P |
possibly damaging |
Het |
| Vsig2 |
T |
C |
9: 37,453,872 (GRCm39) |
|
probably benign |
Het |
| Zfp839 |
T |
A |
12: 110,834,820 (GRCm39) |
S692T |
possibly damaging |
Het |
|
| Other mutations in Galnt18 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00584:Galnt18
|
APN |
7 |
111,071,202 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03110:Galnt18
|
APN |
7 |
111,147,920 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03263:Galnt18
|
APN |
7 |
111,119,321 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0013:Galnt18
|
UTSW |
7 |
111,153,664 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0141:Galnt18
|
UTSW |
7 |
111,198,238 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0471:Galnt18
|
UTSW |
7 |
111,378,506 (GRCm39) |
splice site |
probably benign |
|
|
R0494:Galnt18
|
UTSW |
7 |
111,153,771 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0546:Galnt18
|
UTSW |
7 |
111,107,348 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0682:Galnt18
|
UTSW |
7 |
111,119,222 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0938:Galnt18
|
UTSW |
7 |
111,119,206 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R1321:Galnt18
|
UTSW |
7 |
111,378,639 (GRCm39) |
missense |
probably benign |
0.19 |
|
R1457:Galnt18
|
UTSW |
7 |
111,378,635 (GRCm39) |
nonsense |
probably null |
|
|
R1656:Galnt18
|
UTSW |
7 |
111,215,699 (GRCm39) |
splice site |
probably benign |
|
|
R2077:Galnt18
|
UTSW |
7 |
111,153,809 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2567:Galnt18
|
UTSW |
7 |
111,153,823 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3788:Galnt18
|
UTSW |
7 |
111,119,322 (GRCm39) |
nonsense |
probably null |
|
|
R4835:Galnt18
|
UTSW |
7 |
111,378,730 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4962:Galnt18
|
UTSW |
7 |
111,071,271 (GRCm39) |
missense |
probably benign |
0.10 |
|
R6125:Galnt18
|
UTSW |
7 |
111,084,400 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6216:Galnt18
|
UTSW |
7 |
111,112,757 (GRCm39) |
missense |
probably benign |
0.39 |
|
R7075:Galnt18
|
UTSW |
7 |
111,155,595 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R7831:Galnt18
|
UTSW |
7 |
111,155,665 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R8728:Galnt18
|
UTSW |
7 |
111,119,243 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8729:Galnt18
|
UTSW |
7 |
111,119,198 (GRCm39) |
missense |
probably null |
0.90 |
|
R8888:Galnt18
|
UTSW |
7 |
111,378,709 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R8895:Galnt18
|
UTSW |
7 |
111,378,709 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R9330:Galnt18
|
UTSW |
7 |
111,071,271 (GRCm39) |
missense |
probably benign |
0.10 |
|
R9448:Galnt18
|
UTSW |
7 |
111,153,649 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9746:Galnt18
|
UTSW |
7 |
111,071,168 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
RF017:Galnt18
|
UTSW |
7 |
111,198,221 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Galnt18
|
UTSW |
7 |
111,084,358 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-03-25 |
Incidental Mutation