Incidental Mutation 'IGL00942:Nipal3'
ID |
27276 |
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 # |
IGL00942
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
135173454-135222283 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 135195904 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Glutamine
at position 233
(L233Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000099608
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102549]
[ENSMUST00000105856]
[ENSMUST00000183807]
|
AlphaFold |
Q8BGN5 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000102549
AA Change: L233Q
PolyPhen 2
Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000099608 Gene: ENSMUSG00000028803 AA Change: L233Q
Domain | Start | End | E-Value | Type |
Pfam:Mg_trans_NIPA
|
33 |
333 |
5e-75 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000105856
AA Change: L233Q
PolyPhen 2
Score 0.829 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000101482 Gene: ENSMUSG00000028803 AA Change: L233Q
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: L92Q
|
SMART Domains |
Protein: ENSMUSP00000118178 Gene: ENSMUSG00000028803 AA Change: L92Q
Domain | Start | End | E-Value | Type |
Pfam:Mg_trans_NIPA
|
1 |
190 |
1.2e-47 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000183807
AA Change: L233Q
PolyPhen 2
Score 0.829 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000139088 Gene: ENSMUSG00000028803 AA Change: L233Q
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 |
Arap2 |
A |
C |
5: 62,855,732 (GRCm39) |
L568* |
probably null |
Het |
Arfgef2 |
G |
A |
2: 166,727,773 (GRCm39) |
V1574M |
probably damaging |
Het |
Arhgef12 |
C |
T |
9: 42,893,296 (GRCm39) |
R969H |
probably damaging |
Het |
Cacng1 |
A |
T |
11: 107,595,195 (GRCm39) |
F127L |
probably benign |
Het |
Cntnap5c |
T |
C |
17: 58,076,593 (GRCm39) |
V10A |
probably benign |
Het |
Crtac1 |
T |
G |
19: 42,312,233 (GRCm39) |
D160A |
probably damaging |
Het |
Csmd3 |
C |
T |
15: 47,710,502 (GRCm39) |
|
probably null |
Het |
Grin3a |
A |
G |
4: 49,770,589 (GRCm39) |
F728L |
probably damaging |
Het |
H3c1 |
T |
C |
13: 23,945,921 (GRCm39) |
|
probably benign |
Het |
Hecw1 |
C |
T |
13: 14,515,325 (GRCm39) |
|
probably benign |
Het |
Iyd |
C |
T |
10: 3,554,070 (GRCm38) |
C239F |
probably damaging |
Het |
Madd |
A |
G |
2: 91,000,923 (GRCm39) |
V486A |
probably damaging |
Het |
Map3k7 |
A |
G |
4: 32,019,539 (GRCm39) |
D533G |
probably damaging |
Het |
Matk |
A |
G |
10: 81,094,128 (GRCm39) |
D20G |
probably benign |
Het |
Mphosph10 |
A |
G |
7: 64,039,503 (GRCm39) |
S156P |
probably benign |
Het |
Mtif2 |
G |
A |
11: 29,488,753 (GRCm39) |
E356K |
probably damaging |
Het |
Ndufb10 |
T |
C |
17: 24,943,158 (GRCm39) |
|
probably null |
Het |
Or7e169 |
T |
C |
9: 19,757,555 (GRCm39) |
Y120C |
probably damaging |
Het |
Prss32 |
T |
A |
17: 24,078,134 (GRCm39) |
C273* |
probably null |
Het |
Prtg |
T |
C |
9: 72,799,622 (GRCm39) |
S807P |
possibly damaging |
Het |
Ric3 |
T |
G |
7: 108,653,619 (GRCm39) |
E157D |
probably damaging |
Het |
Ric3 |
T |
A |
7: 108,653,620 (GRCm39) |
E157V |
probably damaging |
Het |
Slc16a14 |
G |
A |
1: 84,900,592 (GRCm39) |
T131I |
probably damaging |
Het |
Slc1a2 |
A |
T |
2: 102,570,159 (GRCm39) |
N137Y |
probably damaging |
Het |
Slc25a27 |
T |
C |
17: 43,974,980 (GRCm39) |
I94V |
probably benign |
Het |
Slco1a1 |
G |
A |
6: 141,892,354 (GRCm39) |
T4I |
probably benign |
Het |
Slf1 |
A |
T |
13: 77,192,066 (GRCm39) |
F923I |
possibly damaging |
Het |
Taf7l2 |
A |
G |
10: 115,949,341 (GRCm39) |
S62P |
possibly damaging |
Het |
Ttll12 |
A |
C |
15: 83,466,649 (GRCm39) |
V306G |
possibly damaging |
Het |
Tulp2 |
G |
A |
7: 45,165,692 (GRCm39) |
V97I |
possibly damaging |
Het |
Vmn2r65 |
T |
G |
7: 84,592,761 (GRCm39) |
Q482P |
probably damaging |
Het |
Wdr24 |
T |
A |
17: 26,045,595 (GRCm39) |
N443K |
probably benign |
Het |
|
Other mutations in Nipal3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
|
IGL02868:Nipal3
|
APN |
4 |
135,194,182 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
2013-04-17 |