Incidental Mutation 'IGL01555:Nipal2'
ID |
90706 |
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 # |
IGL01555
|
Quality Score |
|
Status
|
|
Chromosome |
15 |
Chromosomal Location |
34572945-34679358 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to T
at 34600264 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000153811
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040791]
[ENSMUST00000228073]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000040791
|
SMART Domains |
Protein: ENSMUSP00000038922 Gene: ENSMUSG00000038879
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: 18 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4833420G17Rik |
A |
G |
13: 119,610,443 (GRCm39) |
H372R |
probably benign |
Het |
A3galt2 |
G |
A |
4: 128,655,851 (GRCm39) |
C73Y |
probably damaging |
Het |
Arid4a |
C |
T |
12: 71,108,301 (GRCm39) |
|
probably benign |
Het |
Ascc3 |
T |
C |
10: 50,626,618 (GRCm39) |
V1706A |
probably damaging |
Het |
Boll |
A |
G |
1: 55,344,827 (GRCm39) |
|
probably benign |
Het |
Camsap1 |
A |
T |
2: 25,829,405 (GRCm39) |
M773K |
possibly damaging |
Het |
Dhx9 |
A |
T |
1: 153,335,312 (GRCm39) |
D929E |
probably damaging |
Het |
Ect2l |
A |
G |
10: 18,006,478 (GRCm39) |
L775P |
probably damaging |
Het |
Fat2 |
A |
T |
11: 55,169,756 (GRCm39) |
V3001D |
probably damaging |
Het |
Kcnh6 |
A |
T |
11: 105,908,445 (GRCm39) |
I354F |
probably damaging |
Het |
Nemp2 |
T |
A |
1: 52,680,202 (GRCm39) |
V142E |
probably damaging |
Het |
Otop1 |
A |
G |
5: 38,460,188 (GRCm39) |
Y585C |
probably damaging |
Het |
Peli3 |
T |
C |
19: 4,985,086 (GRCm39) |
T108A |
probably damaging |
Het |
Pramel6 |
T |
C |
2: 87,341,129 (GRCm39) |
|
probably benign |
Het |
Rbfa |
G |
A |
18: 80,241,015 (GRCm39) |
T83I |
possibly damaging |
Het |
Speer1k |
A |
T |
5: 10,999,051 (GRCm39) |
|
probably benign |
Het |
Sstr2 |
A |
T |
11: 113,516,445 (GRCm39) |
I342F |
probably benign |
Het |
Tll2 |
T |
A |
19: 41,074,805 (GRCm39) |
I920L |
probably benign |
Het |
|
Other mutations in Nipal2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00657:Nipal2
|
APN |
15 |
34,600,224 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
2013-12-09 |