Incidental Mutation 'IGL03110:Galnt18'
ID |
419171 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Galnt18
|
Ensembl Gene |
ENSMUSG00000038296 |
Gene Name |
polypeptide N-acetylgalactosaminyltransferase 18 |
Synonyms |
Galntl4, 2900011G21Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL03110
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
111070868-111379184 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 111147920 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Valine
at position 352
(E352V)
|
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: E352V
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
SMART Domains |
Protein: ENSMUSP00000043636 Gene: ENSMUSG00000038296 AA Change: E352V
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: E352V
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
SMART Domains |
Protein: ENSMUSP00000102274 Gene: ENSMUSG00000038296 AA Change: E352V
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 |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acacb |
A |
G |
5: 114,333,295 (GRCm39) |
E473G |
probably damaging |
Het |
Acp7 |
T |
C |
7: 28,310,464 (GRCm39) |
M458V |
probably benign |
Het |
Acrbp |
G |
T |
6: 125,039,436 (GRCm39) |
C485F |
probably damaging |
Het |
Actn2 |
T |
C |
13: 12,324,493 (GRCm39) |
I117V |
probably benign |
Het |
Ahr |
T |
C |
12: 35,554,970 (GRCm39) |
E383G |
probably damaging |
Het |
Cacna2d4 |
A |
T |
6: 119,213,698 (GRCm39) |
H39L |
probably benign |
Het |
Cdh11 |
G |
T |
8: 103,400,502 (GRCm39) |
N155K |
probably damaging |
Het |
Cldnd1 |
T |
A |
16: 58,549,959 (GRCm39) |
N47K |
possibly damaging |
Het |
Ddb1 |
C |
T |
19: 10,590,309 (GRCm39) |
R279W |
probably damaging |
Het |
Dido1 |
A |
T |
2: 180,331,135 (GRCm39) |
D104E |
probably damaging |
Het |
Dnah1 |
A |
T |
14: 30,988,674 (GRCm39) |
S3386T |
probably benign |
Het |
Gm5407 |
T |
A |
16: 49,117,757 (GRCm39) |
|
noncoding transcript |
Het |
Gucy1b2 |
T |
C |
14: 62,671,283 (GRCm39) |
|
probably benign |
Het |
Guf1 |
C |
A |
5: 69,715,820 (GRCm39) |
L87I |
probably damaging |
Het |
Hikeshi |
A |
G |
7: 89,585,034 (GRCm39) |
S57P |
probably damaging |
Het |
Igkv17-121 |
T |
A |
6: 68,013,851 (GRCm39) |
V17D |
probably damaging |
Het |
Itgad |
T |
C |
7: 127,785,157 (GRCm39) |
V324A |
probably damaging |
Het |
Lama1 |
T |
A |
17: 68,105,981 (GRCm39) |
L2072Q |
probably benign |
Het |
Lrrc31 |
T |
C |
3: 30,733,415 (GRCm39) |
E433G |
probably benign |
Het |
Mrc1 |
T |
A |
2: 14,298,289 (GRCm39) |
L715* |
probably null |
Het |
Nbeal2 |
T |
G |
9: 110,460,501 (GRCm39) |
K1778Q |
probably damaging |
Het |
Or4c35 |
A |
T |
2: 89,808,493 (GRCm39) |
I124F |
probably damaging |
Het |
Or51a39 |
C |
A |
7: 102,363,090 (GRCm39) |
G177C |
probably damaging |
Het |
Or5m3 |
T |
A |
2: 85,838,942 (GRCm39) |
V274E |
probably damaging |
Het |
Ppp1r3a |
T |
A |
6: 14,722,064 (GRCm39) |
|
probably benign |
Het |
Prss37 |
T |
C |
6: 40,495,984 (GRCm39) |
Y6C |
probably benign |
Het |
Rapgef6 |
A |
G |
11: 54,586,915 (GRCm39) |
Q1602R |
probably damaging |
Het |
Rbm15b |
T |
C |
9: 106,763,173 (GRCm39) |
T332A |
probably damaging |
Het |
S100a7l2 |
C |
T |
3: 90,995,626 (GRCm39) |
R92H |
unknown |
Het |
Snrnp70 |
C |
A |
7: 45,026,283 (GRCm39) |
|
probably benign |
Het |
Spidr |
T |
C |
16: 15,707,618 (GRCm39) |
E893G |
probably damaging |
Het |
Stxbp2 |
T |
C |
8: 3,683,342 (GRCm39) |
I74T |
probably damaging |
Het |
Tgm2 |
G |
A |
2: 157,973,410 (GRCm39) |
Q234* |
probably null |
Het |
Thbd |
T |
C |
2: 148,248,716 (GRCm39) |
D384G |
probably benign |
Het |
Zan |
T |
C |
5: 137,418,278 (GRCm39) |
N2940S |
unknown |
Het |
Zmat3 |
T |
A |
3: 32,399,701 (GRCm39) |
N100I |
probably 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 |
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 |
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 |
2016-08-02 |