Incidental Mutation 'IGL01971:Galnt2l'
ID |
182562 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Galnt2l
|
Ensembl Gene |
ENSMUSG00000092329 |
Gene Name |
polypeptide N-acetylgalactosaminyltransferase 2-like |
Synonyms |
Gm20388 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.089)
|
Stock # |
IGL01971
|
Quality Score |
|
Status
|
|
Chromosome |
8 |
Chromosomal Location |
(GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 125070081 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Methionine
at position 499
(V499M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000118564
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034458]
[ENSMUST00000127664]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000034458
AA Change: V533M
PolyPhen 2
Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000034458 Gene: ENSMUSG00000089704 AA Change: V533M
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
low complexity region
|
25 |
39 |
N/A |
INTRINSIC |
Pfam:Glycos_transf_2
|
138 |
321 |
8.3e-31 |
PFAM |
Pfam:Glyco_transf_7C
|
295 |
365 |
5.4e-8 |
PFAM |
RICIN
|
440 |
565 |
9.28e-27 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000127664
AA Change: V499M
PolyPhen 2
Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000118564 Gene: ENSMUSG00000092329 AA Change: V499M
Domain | Start | End | E-Value | Type |
Pfam:Glycos_transf_2
|
104 |
287 |
7.4e-31 |
PFAM |
Pfam:Glyco_transf_7C
|
261 |
331 |
4.9e-8 |
PFAM |
RICIN
|
406 |
531 |
9.28e-27 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147911
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 20 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930432E11Rik |
C |
T |
7: 29,273,987 (GRCm39) |
|
noncoding transcript |
Het |
Ankmy2 |
A |
T |
12: 36,243,792 (GRCm39) |
K336* |
probably null |
Het |
Areg |
A |
G |
5: 91,288,870 (GRCm39) |
T59A |
probably benign |
Het |
Atp8b4 |
T |
C |
2: 126,304,536 (GRCm39) |
I66V |
probably benign |
Het |
Atrnl1 |
C |
T |
19: 57,741,715 (GRCm39) |
T1158M |
probably damaging |
Het |
Ckmt1 |
T |
A |
2: 121,194,064 (GRCm39) |
I409N |
probably benign |
Het |
Cnnm2 |
A |
G |
19: 46,860,115 (GRCm39) |
T730A |
probably benign |
Het |
Fan1 |
T |
C |
7: 64,003,459 (GRCm39) |
R788G |
probably damaging |
Het |
Fbf1 |
T |
C |
11: 116,034,208 (GRCm39) |
|
probably benign |
Het |
Heca |
A |
G |
10: 17,791,162 (GRCm39) |
F298S |
probably damaging |
Het |
Klhl6 |
A |
T |
16: 19,768,276 (GRCm39) |
V423E |
probably damaging |
Het |
Notch3 |
T |
C |
17: 32,343,321 (GRCm39) |
N1951D |
probably damaging |
Het |
Osbp |
T |
C |
19: 11,967,999 (GRCm39) |
V636A |
probably benign |
Het |
Szt2 |
T |
C |
4: 118,244,152 (GRCm39) |
T1318A |
probably benign |
Het |
Tnxb |
G |
A |
17: 34,891,271 (GRCm39) |
G538D |
probably damaging |
Het |
Tpbpa |
A |
T |
13: 61,088,047 (GRCm39) |
F46L |
possibly damaging |
Het |
Ttn |
A |
G |
2: 76,554,123 (GRCm39) |
V30860A |
probably damaging |
Het |
Usf3 |
A |
G |
16: 44,037,809 (GRCm39) |
|
probably null |
Het |
Utp23 |
C |
A |
15: 51,745,671 (GRCm39) |
A57E |
probably benign |
Het |
Vmn2r13 |
T |
C |
5: 109,321,981 (GRCm39) |
M239V |
probably benign |
Het |
|
Other mutations in Galnt2l |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00502:Galnt2l
|
APN |
8 |
125,054,837 (GRCm39) |
missense |
probably damaging |
0.97 |
R0010:Galnt2l
|
UTSW |
8 |
122,997,337 (GRCm39) |
intron |
probably benign |
|
R0103:Galnt2l
|
UTSW |
8 |
122,996,472 (GRCm39) |
intron |
probably benign |
|
R0666:Galnt2l
|
UTSW |
8 |
122,997,727 (GRCm39) |
intron |
probably benign |
|
R1456:Galnt2l
|
UTSW |
8 |
123,568,687 (GRCm39) |
intron |
probably benign |
|
R1476:Galnt2l
|
UTSW |
8 |
122,996,323 (GRCm39) |
intron |
probably benign |
|
R4732:Galnt2l
|
UTSW |
8 |
122,997,013 (GRCm39) |
intron |
probably benign |
|
R4911:Galnt2l
|
UTSW |
8 |
123,807,343 (GRCm39) |
intron |
probably benign |
|
R5256:Galnt2l
|
UTSW |
8 |
122,997,175 (GRCm39) |
intron |
probably benign |
|
R5271:Galnt2l
|
UTSW |
8 |
122,997,872 (GRCm39) |
intron |
probably benign |
|
R5821:Galnt2l
|
UTSW |
8 |
123,627,372 (GRCm39) |
makesense |
probably null |
|
|
Posted On |
2014-05-07 |