Incidental Mutation 'IGL01962:Nipal1'
ID |
182426 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Nipal1
|
Ensembl Gene |
ENSMUSG00000067219 |
Gene Name |
NIPA-like domain containing 1 |
Synonyms |
Npal1, 3830408G10Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.120)
|
Stock # |
IGL01962
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
72805139-72828421 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 72825401 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Glycine
at position 365
(S365G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000084462
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087212]
[ENSMUST00000197837]
|
AlphaFold |
Q8BMW7 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000087212
AA Change: S365G
PolyPhen 2
Score 0.504 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000084462 Gene: ENSMUSG00000067219 AA Change: S365G
Domain | Start | End | E-Value | Type |
Pfam:Mg_trans_NIPA
|
66 |
360 |
6e-136 |
PFAM |
Pfam:EamA
|
107 |
186 |
1.6e-11 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000197837
|
SMART Domains |
Protein: ENSMUSP00000143667 Gene: ENSMUSG00000067219
Domain | Start | End | E-Value | Type |
Pfam:Mg_trans_NIPA
|
3 |
96 |
2.1e-45 |
PFAM |
Pfam:EamA
|
17 |
96 |
2.8e-10 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 27 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcg1 |
T |
C |
17: 31,324,514 (GRCm39) |
F253S |
probably benign |
Het |
AI429214 |
T |
A |
8: 37,461,383 (GRCm39) |
I177N |
probably damaging |
Het |
Astn1 |
C |
A |
1: 158,496,201 (GRCm39) |
T1077K |
probably damaging |
Het |
Asxl3 |
A |
T |
18: 22,655,502 (GRCm39) |
I1171L |
probably benign |
Het |
Cdca2 |
A |
T |
14: 67,943,172 (GRCm39) |
S206T |
probably damaging |
Het |
Chd3 |
T |
C |
11: 69,248,319 (GRCm39) |
M858V |
possibly damaging |
Het |
Cyp2j12 |
C |
T |
4: 95,987,999 (GRCm39) |
A464T |
probably benign |
Het |
Fryl |
A |
T |
5: 73,190,134 (GRCm39) |
D2787E |
possibly damaging |
Het |
Hmx3 |
G |
A |
7: 131,146,000 (GRCm39) |
R236H |
probably damaging |
Het |
Il1rap |
T |
A |
16: 26,529,318 (GRCm39) |
C330* |
probably null |
Het |
Klrc1 |
A |
T |
6: 129,655,865 (GRCm39) |
N3K |
probably damaging |
Het |
Nars1 |
A |
G |
18: 64,643,554 (GRCm39) |
F142L |
probably benign |
Het |
Or1n1 |
T |
A |
2: 36,749,787 (GRCm39) |
H191L |
probably benign |
Het |
Or2ag15 |
G |
A |
7: 106,340,991 (GRCm39) |
T50I |
probably benign |
Het |
Or51s1 |
T |
G |
7: 102,559,054 (GRCm39) |
|
probably benign |
Het |
Or8k17 |
C |
A |
2: 86,066,456 (GRCm39) |
R234M |
probably damaging |
Het |
Pcdhb4 |
A |
G |
18: 37,442,057 (GRCm39) |
T456A |
possibly damaging |
Het |
Pcdhb5 |
G |
A |
18: 37,454,093 (GRCm39) |
D158N |
probably damaging |
Het |
Pcsk2 |
C |
T |
2: 143,655,552 (GRCm39) |
Q579* |
probably null |
Het |
Phactr4 |
G |
A |
4: 132,091,086 (GRCm39) |
R577W |
probably damaging |
Het |
Rbms3 |
T |
C |
9: 116,524,879 (GRCm39) |
|
probably benign |
Het |
Rxfp1 |
T |
G |
3: 79,594,175 (GRCm39) |
D73A |
probably damaging |
Het |
Scmh1 |
A |
T |
4: 120,340,781 (GRCm39) |
|
probably benign |
Het |
Syk |
T |
G |
13: 52,764,993 (GRCm39) |
L40R |
probably damaging |
Het |
Tcn2 |
T |
C |
11: 3,875,072 (GRCm39) |
N153S |
probably benign |
Het |
Tnks |
A |
G |
8: 35,336,678 (GRCm39) |
L502P |
probably damaging |
Het |
Vmn2r111 |
A |
G |
17: 22,767,265 (GRCm39) |
V744A |
possibly damaging |
Het |
|
Other mutations in Nipal1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00425:Nipal1
|
APN |
5 |
72,816,067 (GRCm39) |
missense |
probably benign |
|
IGL01894:Nipal1
|
APN |
5 |
72,820,882 (GRCm39) |
missense |
probably benign |
0.02 |
IGL02145:Nipal1
|
APN |
5 |
72,824,274 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02902:Nipal1
|
APN |
5 |
72,825,405 (GRCm39) |
missense |
possibly damaging |
0.49 |
IGL02934:Nipal1
|
APN |
5 |
72,805,250 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03024:Nipal1
|
APN |
5 |
72,820,968 (GRCm39) |
critical splice donor site |
probably null |
|
IGL03237:Nipal1
|
APN |
5 |
72,824,150 (GRCm39) |
missense |
probably damaging |
0.99 |
R0848:Nipal1
|
UTSW |
5 |
72,825,183 (GRCm39) |
missense |
probably damaging |
0.99 |
R1024:Nipal1
|
UTSW |
5 |
72,825,334 (GRCm39) |
frame shift |
probably null |
|
R2106:Nipal1
|
UTSW |
5 |
72,820,902 (GRCm39) |
missense |
probably damaging |
0.99 |
R2883:Nipal1
|
UTSW |
5 |
72,825,073 (GRCm39) |
missense |
probably damaging |
1.00 |
R2932:Nipal1
|
UTSW |
5 |
72,824,978 (GRCm39) |
missense |
possibly damaging |
0.46 |
R5364:Nipal1
|
UTSW |
5 |
72,825,243 (GRCm39) |
missense |
probably damaging |
1.00 |
R6175:Nipal1
|
UTSW |
5 |
72,820,898 (GRCm39) |
missense |
probably damaging |
1.00 |
R6523:Nipal1
|
UTSW |
5 |
72,824,951 (GRCm39) |
missense |
probably damaging |
0.97 |
R7185:Nipal1
|
UTSW |
5 |
72,824,198 (GRCm39) |
missense |
probably damaging |
0.98 |
R7436:Nipal1
|
UTSW |
5 |
72,824,984 (GRCm39) |
missense |
probably benign |
0.00 |
R9388:Nipal1
|
UTSW |
5 |
72,825,557 (GRCm39) |
makesense |
probably null |
|
RF011:Nipal1
|
UTSW |
5 |
72,824,156 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2014-05-07 |