Incidental Mutation 'IGL02868:Nipal3'
ID |
362415 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Nipal3
|
Ensembl Gene |
ENSMUSG00000028803 |
Gene Name |
NIPA-like domain containing 3 |
Synonyms |
Npal3, 9130020G22Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.075)
|
Stock # |
IGL02868
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
135173454-135222283 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 135194182 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 284
(S284P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000099608
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102549]
[ENSMUST00000105856]
[ENSMUST00000183807]
|
AlphaFold |
Q8BGN5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000102549
AA Change: S284P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000099608 Gene: ENSMUSG00000028803 AA Change: S284P
Domain | Start | End | E-Value | Type |
Pfam:Mg_trans_NIPA
|
33 |
333 |
5e-75 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000105856
AA Change: S284P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000101482 Gene: ENSMUSG00000028803 AA Change: S284P
Domain | Start | End | E-Value | Type |
low complexity region
|
13 |
33 |
N/A |
INTRINSIC |
Pfam:Mg_trans_NIPA
|
35 |
330 |
9.5e-75 |
PFAM |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000140982
AA Change: S143P
|
SMART Domains |
Protein: ENSMUSP00000118178 Gene: ENSMUSG00000028803 AA Change: S143P
Domain | Start | End | E-Value | Type |
Pfam:Mg_trans_NIPA
|
1 |
190 |
1.2e-47 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000183807
AA Change: S284P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000139088 Gene: ENSMUSG00000028803 AA Change: S284P
Domain | Start | End | E-Value | Type |
Pfam:Mg_trans_NIPA
|
33 |
333 |
3.8e-75 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit gender-dependent behavioral and immune system abnormalities. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arhgap4 |
A |
G |
X: 72,944,008 (GRCm39) |
I224T |
probably benign |
Het |
Atp12a |
A |
G |
14: 56,621,639 (GRCm39) |
D758G |
probably damaging |
Het |
Clca3b |
C |
A |
3: 144,533,325 (GRCm39) |
G569V |
probably damaging |
Het |
Dlgap4 |
G |
A |
2: 156,542,816 (GRCm39) |
R73Q |
probably damaging |
Het |
Efcc1 |
C |
T |
6: 87,728,743 (GRCm39) |
|
probably benign |
Het |
Eno3 |
T |
A |
11: 70,552,826 (GRCm39) |
V369E |
probably damaging |
Het |
Espl1 |
T |
A |
15: 102,222,425 (GRCm39) |
C1022* |
probably null |
Het |
Grhl3 |
T |
C |
4: 135,281,915 (GRCm39) |
D319G |
probably damaging |
Het |
Huwe1 |
G |
A |
X: 150,691,829 (GRCm39) |
R2538H |
possibly damaging |
Het |
Lrrc37 |
A |
T |
11: 103,505,965 (GRCm39) |
L2001H |
probably benign |
Het |
Ms4a4d |
T |
A |
19: 11,527,646 (GRCm39) |
I51N |
probably damaging |
Het |
Mtmr9 |
T |
C |
14: 63,761,588 (GRCm39) |
N522S |
probably benign |
Het |
Nfe2l1 |
A |
G |
11: 96,710,966 (GRCm39) |
I133T |
probably damaging |
Het |
Ninl |
A |
G |
2: 150,778,974 (GRCm39) |
Y1296H |
probably benign |
Het |
Or4k40 |
A |
T |
2: 111,250,838 (GRCm39) |
F153I |
possibly damaging |
Het |
Or5g9 |
A |
T |
2: 85,551,919 (GRCm39) |
T57S |
probably benign |
Het |
Pramel5 |
G |
T |
4: 143,997,922 (GRCm39) |
N440K |
probably benign |
Het |
Rabep1 |
T |
C |
11: 70,765,572 (GRCm39) |
V12A |
probably benign |
Het |
Rbm5 |
G |
T |
9: 107,626,899 (GRCm39) |
|
probably benign |
Het |
Ric3 |
T |
C |
7: 108,653,626 (GRCm39) |
E155G |
probably damaging |
Het |
Slc12a7 |
T |
A |
13: 73,954,507 (GRCm39) |
M897K |
probably benign |
Het |
Slc39a8 |
G |
T |
3: 135,561,787 (GRCm39) |
A169S |
probably damaging |
Het |
Stxbp2 |
A |
T |
8: 3,691,971 (GRCm39) |
I538F |
probably benign |
Het |
Synrg |
G |
A |
11: 83,877,876 (GRCm39) |
|
probably benign |
Het |
Tas2r107 |
T |
C |
6: 131,636,249 (GRCm39) |
T267A |
probably benign |
Het |
Tead3 |
G |
T |
17: 28,552,069 (GRCm39) |
Y354* |
probably null |
Het |
Trim3 |
T |
C |
7: 105,262,239 (GRCm39) |
K579R |
possibly damaging |
Het |
Uaca |
A |
T |
9: 60,770,919 (GRCm39) |
K362M |
probably damaging |
Het |
Vmn2r94 |
A |
G |
17: 18,464,316 (GRCm39) |
I658T |
possibly damaging |
Het |
Vps13b |
C |
T |
15: 35,884,665 (GRCm39) |
P3113S |
probably benign |
Het |
Zfp251 |
A |
G |
15: 76,738,734 (GRCm39) |
S115P |
probably damaging |
Het |
Zfp683 |
G |
A |
4: 133,783,177 (GRCm39) |
V214M |
probably benign |
Het |
|
Other mutations in Nipal3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00942:Nipal3
|
APN |
4 |
135,195,904 (GRCm39) |
missense |
possibly damaging |
0.90 |
IGL01338:Nipal3
|
APN |
4 |
135,199,194 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02149:Nipal3
|
APN |
4 |
135,194,163 (GRCm39) |
missense |
possibly damaging |
0.67 |
IGL02160:Nipal3
|
APN |
4 |
135,201,728 (GRCm39) |
nonsense |
probably null |
|
IGL02560:Nipal3
|
APN |
4 |
135,207,015 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02826:Nipal3
|
APN |
4 |
135,195,861 (GRCm39) |
nonsense |
probably null |
|
R0189:Nipal3
|
UTSW |
4 |
135,195,829 (GRCm39) |
missense |
possibly damaging |
0.89 |
R0470:Nipal3
|
UTSW |
4 |
135,174,683 (GRCm39) |
missense |
probably damaging |
0.99 |
R0891:Nipal3
|
UTSW |
4 |
135,195,898 (GRCm39) |
missense |
possibly damaging |
0.91 |
R1633:Nipal3
|
UTSW |
4 |
135,174,659 (GRCm39) |
missense |
probably benign |
0.03 |
R1686:Nipal3
|
UTSW |
4 |
135,174,599 (GRCm39) |
missense |
possibly damaging |
0.49 |
R2921:Nipal3
|
UTSW |
4 |
135,204,776 (GRCm39) |
missense |
probably damaging |
1.00 |
R2923:Nipal3
|
UTSW |
4 |
135,204,776 (GRCm39) |
missense |
probably damaging |
1.00 |
R3732:Nipal3
|
UTSW |
4 |
135,191,157 (GRCm39) |
missense |
probably damaging |
1.00 |
R3732:Nipal3
|
UTSW |
4 |
135,191,157 (GRCm39) |
missense |
probably damaging |
1.00 |
R3733:Nipal3
|
UTSW |
4 |
135,191,157 (GRCm39) |
missense |
probably damaging |
1.00 |
R3734:Nipal3
|
UTSW |
4 |
135,191,157 (GRCm39) |
missense |
probably damaging |
1.00 |
R5057:Nipal3
|
UTSW |
4 |
135,194,167 (GRCm39) |
missense |
probably damaging |
1.00 |
R5616:Nipal3
|
UTSW |
4 |
135,179,715 (GRCm39) |
missense |
probably benign |
0.01 |
R5758:Nipal3
|
UTSW |
4 |
135,179,874 (GRCm39) |
missense |
probably benign |
0.02 |
R5779:Nipal3
|
UTSW |
4 |
135,179,650 (GRCm39) |
intron |
probably benign |
|
R5885:Nipal3
|
UTSW |
4 |
135,199,288 (GRCm39) |
missense |
probably damaging |
0.97 |
R6572:Nipal3
|
UTSW |
4 |
135,174,564 (GRCm39) |
missense |
probably benign |
0.02 |
R6981:Nipal3
|
UTSW |
4 |
135,206,858 (GRCm39) |
missense |
probably damaging |
1.00 |
R7194:Nipal3
|
UTSW |
4 |
135,201,732 (GRCm39) |
missense |
probably benign |
0.26 |
R7537:Nipal3
|
UTSW |
4 |
135,218,248 (GRCm39) |
missense |
probably damaging |
1.00 |
R8018:Nipal3
|
UTSW |
4 |
135,174,659 (GRCm39) |
missense |
possibly damaging |
0.63 |
R8098:Nipal3
|
UTSW |
4 |
135,179,709 (GRCm39) |
missense |
possibly damaging |
0.87 |
R8503:Nipal3
|
UTSW |
4 |
135,206,892 (GRCm39) |
missense |
probably damaging |
1.00 |
R9651:Nipal3
|
UTSW |
4 |
135,174,634 (GRCm39) |
nonsense |
probably null |
|
X0066:Nipal3
|
UTSW |
4 |
135,174,566 (GRCm39) |
missense |
probably benign |
0.02 |
|
Posted On |
2015-12-18 |