Incidental Mutation 'IGL01894:Nipal1'
| ID |
179335 |
| 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: 0.119)
|
| Stock # |
IGL01894
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
72805139-72828421 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 72820882 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 37
(A37T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143667
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087212]
[ENSMUST00000197837]
|
| AlphaFold |
Q8BMW7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000087212
AA Change: A126T
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000084462
Gene: ENSMUSG00000067219
AA Change: A126T
| 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 |
noncoding transcript
Transcript: ENSMUST00000197772
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000197837
AA Change: A37T
PolyPhen 2
Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000143667
Gene: ENSMUSG00000067219
AA Change: A37T
| 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: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam29 |
T |
A |
8: 56,324,865 (GRCm39) |
I530L |
probably benign |
Het |
| Adam3 |
T |
C |
8: 25,177,954 (GRCm39) |
D653G |
probably benign |
Het |
| Car13 |
T |
C |
3: 14,726,525 (GRCm39) |
F227S |
probably damaging |
Het |
| Cdc27 |
T |
C |
11: 104,417,747 (GRCm39) |
N300S |
probably benign |
Het |
| Fat3 |
C |
T |
9: 16,287,145 (GRCm39) |
V793I |
probably benign |
Het |
| Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
| Gm21738 |
G |
A |
14: 19,416,979 (GRCm38) |
S144L |
probably benign |
Het |
| Gpa33 |
T |
A |
1: 165,992,785 (GRCm39) |
D299E |
probably benign |
Het |
| Kif5a |
C |
T |
10: 127,098,648 (GRCm39) |
V40I |
probably benign |
Het |
| Lama3 |
A |
G |
18: 12,705,121 (GRCm39) |
H1455R |
probably benign |
Het |
| Lamc1 |
T |
C |
1: 153,122,828 (GRCm39) |
K751E |
possibly damaging |
Het |
| Nek5 |
T |
A |
8: 22,603,835 (GRCm39) |
H114L |
probably damaging |
Het |
| Or13a24 |
T |
C |
7: 140,154,683 (GRCm39) |
Y206H |
possibly damaging |
Het |
| Or5b101 |
G |
T |
19: 13,005,649 (GRCm39) |
L15I |
probably damaging |
Het |
| Or5b96 |
T |
C |
19: 12,867,007 (GRCm39) |
|
probably benign |
Het |
| Pik3ca |
T |
C |
3: 32,504,175 (GRCm39) |
Y622H |
possibly damaging |
Het |
| Pknox2 |
G |
T |
9: 36,835,038 (GRCm39) |
H144N |
probably damaging |
Het |
| Ppp4r4 |
A |
G |
12: 103,559,397 (GRCm39) |
Y526C |
probably damaging |
Het |
| Prdm10 |
A |
G |
9: 31,227,557 (GRCm39) |
D54G |
probably damaging |
Het |
| Rpn2 |
C |
T |
2: 157,136,093 (GRCm39) |
T167I |
probably benign |
Het |
| Slc22a30 |
G |
T |
19: 8,364,021 (GRCm39) |
H218Q |
probably benign |
Het |
| Supt6 |
A |
G |
11: 78,113,664 (GRCm39) |
S878P |
probably benign |
Het |
| Tmem184c |
A |
T |
8: 78,323,775 (GRCm39) |
C362* |
probably null |
Het |
| Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
| Wscd2 |
C |
T |
5: 113,710,357 (GRCm39) |
R294W |
probably 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 |
|
|
IGL01962:Nipal1
|
APN |
5 |
72,825,401 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
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 |
Incidental Mutation