Incidental Mutation 'R1321:Galnt18'
ID |
157682 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Galnt18
|
Ensembl Gene |
ENSMUSG00000038296 |
Gene Name |
polypeptide N-acetylgalactosaminyltransferase 18 |
Synonyms |
Galntl4, 2900011G21Rik |
MMRRC Submission |
039387-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1321 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
111070868-111379184 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 111378639 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glutamic Acid
at position 39
(V39E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000102274
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049430]
[ENSMUST00000106663]
|
AlphaFold |
Q8K1B9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000049430
AA Change: V39E
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000043636 Gene: ENSMUSG00000038296 AA Change: V39E
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 benign
Transcript: ENSMUST00000106663
AA Change: V39E
PolyPhen 2
Score 0.187 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000102274 Gene: ENSMUSG00000038296 AA Change: V39E
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 |
0.2835 |
Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.8%
- 10x: 95.0%
- 20x: 89.1%
|
Validation Efficiency |
100% (41/41) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930447C04Rik |
A |
G |
12: 72,945,318 (GRCm39) |
|
probably benign |
Het |
Aco2 |
C |
T |
15: 81,779,394 (GRCm39) |
S33L |
probably damaging |
Het |
C2cd2l |
A |
G |
9: 44,228,878 (GRCm39) |
|
probably null |
Het |
Cass4 |
T |
A |
2: 172,266,572 (GRCm39) |
L205Q |
probably benign |
Het |
Ccn3 |
G |
T |
15: 54,612,642 (GRCm39) |
C217F |
probably damaging |
Het |
Celsr3 |
G |
A |
9: 108,713,069 (GRCm39) |
D1834N |
probably damaging |
Het |
Col12a1 |
A |
T |
9: 79,524,991 (GRCm39) |
C2723* |
probably null |
Het |
Cps1 |
A |
G |
1: 67,182,178 (GRCm39) |
|
probably benign |
Het |
Dolpp1 |
A |
G |
2: 30,285,748 (GRCm39) |
I49V |
possibly damaging |
Het |
Dppa2 |
A |
G |
16: 48,131,999 (GRCm39) |
E32G |
possibly damaging |
Het |
Eif2b5 |
C |
T |
16: 20,323,439 (GRCm39) |
R397* |
probably null |
Het |
Far2 |
G |
T |
6: 148,075,034 (GRCm39) |
|
probably benign |
Het |
Fbxo42 |
C |
T |
4: 140,895,160 (GRCm39) |
T41I |
probably benign |
Het |
Fbxw15 |
G |
A |
9: 109,387,314 (GRCm39) |
S227F |
probably damaging |
Het |
Galnt13 |
G |
A |
2: 54,988,606 (GRCm39) |
R476Q |
probably damaging |
Het |
Gm10801 |
C |
T |
2: 98,494,252 (GRCm39) |
|
probably benign |
Het |
Gm21954 |
C |
T |
3: 55,379,627 (GRCm39) |
|
probably benign |
Het |
Lct |
A |
C |
1: 128,227,759 (GRCm39) |
L1245V |
probably benign |
Het |
Lgr5 |
T |
C |
10: 115,314,362 (GRCm39) |
T192A |
probably damaging |
Het |
Mrpl42 |
C |
T |
10: 95,329,573 (GRCm39) |
V46M |
probably damaging |
Het |
Mybpc1 |
C |
T |
10: 88,365,403 (GRCm39) |
V907M |
possibly damaging |
Het |
Mybpc1 |
T |
A |
10: 88,406,463 (GRCm39) |
Y127F |
probably damaging |
Het |
Nrbp1 |
T |
A |
5: 31,403,157 (GRCm39) |
I210N |
probably damaging |
Het |
Otud4 |
T |
C |
8: 80,396,579 (GRCm39) |
S613P |
probably benign |
Het |
P2ry12 |
T |
C |
3: 59,124,646 (GRCm39) |
E343G |
possibly damaging |
Het |
Pbrm1 |
A |
C |
14: 30,789,459 (GRCm39) |
K670T |
probably damaging |
Het |
Prl2c2 |
G |
C |
13: 13,176,786 (GRCm39) |
T47R |
probably damaging |
Het |
Reg3b |
A |
G |
6: 78,349,936 (GRCm39) |
|
probably null |
Het |
Sppl3 |
TGG |
TG |
5: 115,226,352 (GRCm39) |
|
probably null |
Het |
Ssr2 |
T |
C |
3: 88,484,261 (GRCm39) |
|
probably benign |
Het |
Syne3 |
A |
C |
12: 104,942,055 (GRCm39) |
V29G |
probably benign |
Het |
Ubr4 |
T |
C |
4: 139,187,434 (GRCm39) |
V3834A |
possibly damaging |
Het |
Vmn2r112 |
C |
T |
17: 22,837,500 (GRCm39) |
Q654* |
probably null |
Het |
Vmn2r14 |
C |
T |
5: 109,364,117 (GRCm39) |
V600I |
probably benign |
Het |
Zfp251 |
C |
T |
15: 76,738,436 (GRCm39) |
R219Q |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGGCTCAAGTTTCTCAGGACGC -3'
(R):5'- TGACAAAGTTTCCCAGCCCTGC -3'
Sequencing Primer
(F):5'- ACGCCTGTACCTTGGATATG -3'
(R):5'- CCGCCTTTGGAGAGACTTAG -3'
|
Posted On |
2014-02-18 |