Incidental Mutation 'IGL00657:Nipal2'
| ID |
12356 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Nipal2
|
| Ensembl Gene |
ENSMUSG00000038879 |
| Gene Name |
NIPA-like domain containing 2 |
| Synonyms |
Npal2, 9330161F08Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.064)
|
| Stock # |
IGL00657
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
34572945-34679358 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 34600224 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 198
(Y198H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000038922
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040791]
[ENSMUST00000228073]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000040791
AA Change: Y198H
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000038922
Gene: ENSMUSG00000038879
AA Change: Y198H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Mg_trans_NIPA
|
45 |
332 |
1.5e-121 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227222
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228073
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 13 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cntnap2 |
A |
G |
6: 46,965,721 (GRCm39) |
D844G |
probably damaging |
Het |
| Krt7 |
A |
G |
15: 101,324,966 (GRCm39) |
|
probably benign |
Het |
| Lrig2 |
T |
C |
3: 104,374,487 (GRCm39) |
E556G |
probably damaging |
Het |
| Mettl15 |
A |
G |
2: 108,923,552 (GRCm39) |
I290T |
probably damaging |
Het |
| Mysm1 |
T |
C |
4: 94,848,602 (GRCm39) |
E477G |
probably benign |
Het |
| Nasp |
T |
C |
4: 116,461,416 (GRCm39) |
Y234C |
probably damaging |
Het |
| Nup153 |
T |
A |
13: 46,834,626 (GRCm39) |
|
probably benign |
Het |
| Prdm1 |
A |
G |
10: 44,317,888 (GRCm39) |
S327P |
probably damaging |
Het |
| Rhobtb1 |
C |
A |
10: 69,106,051 (GRCm39) |
D267E |
probably damaging |
Het |
| Sec31a |
G |
A |
5: 100,551,876 (GRCm39) |
Q166* |
probably null |
Het |
| Sphkap |
A |
G |
1: 83,254,096 (GRCm39) |
C931R |
probably damaging |
Het |
| Sytl2 |
A |
G |
7: 90,050,618 (GRCm39) |
R695G |
probably benign |
Het |
| Usp31 |
A |
G |
7: 121,247,454 (GRCm39) |
S1330P |
probably benign |
Het |
|
| Other mutations in Nipal2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01555:Nipal2
|
APN |
15 |
34,600,264 (GRCm39) |
splice site |
probably benign |
|
|
IGL02882:Nipal2
|
APN |
15 |
34,600,223 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03230:Nipal2
|
APN |
15 |
34,575,702 (GRCm39) |
missense |
probably damaging |
0.97 |
|
PIT4486001:Nipal2
|
UTSW |
15 |
34,584,875 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0603:Nipal2
|
UTSW |
15 |
34,650,544 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1255:Nipal2
|
UTSW |
15 |
34,584,828 (GRCm39) |
missense |
probably benign |
0.30 |
|
R1530:Nipal2
|
UTSW |
15 |
34,625,168 (GRCm39) |
makesense |
probably null |
|
|
R1673:Nipal2
|
UTSW |
15 |
34,648,841 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1857:Nipal2
|
UTSW |
15 |
34,678,779 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1888:Nipal2
|
UTSW |
15 |
34,625,167 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R1888:Nipal2
|
UTSW |
15 |
34,625,167 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R3825:Nipal2
|
UTSW |
15 |
34,578,852 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4016:Nipal2
|
UTSW |
15 |
34,600,207 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R4656:Nipal2
|
UTSW |
15 |
34,577,714 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6159:Nipal2
|
UTSW |
15 |
34,600,172 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7082:Nipal2
|
UTSW |
15 |
34,584,809 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7263:Nipal2
|
UTSW |
15 |
34,578,904 (GRCm39) |
nonsense |
probably null |
|
|
R8135:Nipal2
|
UTSW |
15 |
34,678,719 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R8234:Nipal2
|
UTSW |
15 |
34,600,178 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8525:Nipal2
|
UTSW |
15 |
34,584,815 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8993:Nipal2
|
UTSW |
15 |
34,648,983 (GRCm39) |
nonsense |
probably null |
|
|
R9511:Nipal2
|
UTSW |
15 |
34,584,833 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0065:Nipal2
|
UTSW |
15 |
34,609,407 (GRCm39) |
nonsense |
probably null |
|
|
| Posted On |
2012-12-06 |
Incidental Mutation