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: 0.128)
|
| 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 |
Incidental Mutation