Incidental Mutation 'IGL03023:Inpp5a'
| ID |
408053 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Inpp5a
|
| Ensembl Gene |
ENSMUSG00000025477 |
| Gene Name |
inositol polyphosphate-5-phosphatase A |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL03023
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
138969025-139159568 bp(+) (GRCm39) |
| Type of Mutation |
splice site (5 bp from exon) |
| DNA Base Change (assembly) |
G to A
at 139105702 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101704
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026550]
[ENSMUST00000097975]
[ENSMUST00000106098]
|
| AlphaFold |
Q7TNC9 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000026550
|
| SMART Domains |
Protein: ENSMUSP00000026550
Gene: ENSMUSG00000025477
| Domain | Start | End | E-Value | Type |
|---|
|
IPPc
|
8 |
400 |
2.48e-165 |
SMART |
|
low complexity region
|
415 |
422 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000097975
|
| SMART Domains |
Protein: ENSMUSP00000095589
Gene: ENSMUSG00000025477
| Domain | Start | End | E-Value | Type |
|---|
|
IPPc
|
25 |
408 |
1.84e-150 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000106098
|
| SMART Domains |
Protein: ENSMUSP00000101704
Gene: ENSMUSG00000025477
| Domain | Start | End | E-Value | Type |
|---|
|
IPPc
|
8 |
400 |
2.48e-165 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152475
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a membrane-associated type I inositol 1,4,5-trisphosphate (InsP3) 5-phosphatase. InsP3 5-phosphatases hydrolyze Ins(1,4,5)P3, which mobilizes intracellular calcium and acts as a second messenger mediating cell responses to various stimulation. [provided by RefSeq, Jul 2008]
PHENOTYPE: Most mice homozygous for a gene trapped allele show preweaning lethality, while surviving mice exhibit decreased body size, small cerebellum, and early-onset, slowly progressive Purkinje cell degeneration, gliosis, and ataxia. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd18 |
A |
G |
3: 40,859,419 (GRCm39) |
D28G |
probably damaging |
Het |
| Btaf1 |
C |
T |
19: 36,987,415 (GRCm39) |
R1746C |
possibly damaging |
Het |
| Comp |
T |
C |
8: 70,831,260 (GRCm39) |
|
probably benign |
Het |
| Cspg4b |
A |
G |
13: 113,488,275 (GRCm39) |
D99G |
probably benign |
Het |
| Cyp2d9 |
A |
G |
15: 82,339,719 (GRCm39) |
T313A |
probably damaging |
Het |
| Cyp3a59 |
T |
A |
5: 146,022,660 (GRCm39) |
D55E |
probably benign |
Het |
| Dysf |
A |
G |
6: 84,169,989 (GRCm39) |
Y1790C |
probably damaging |
Het |
| Fmo3 |
A |
C |
1: 162,786,034 (GRCm39) |
F319V |
probably benign |
Het |
| Frem2 |
A |
T |
3: 53,563,049 (GRCm39) |
V486D |
probably benign |
Het |
| Gucy2c |
A |
T |
6: 136,679,794 (GRCm39) |
|
probably null |
Het |
| Hdac7 |
A |
T |
15: 97,695,838 (GRCm39) |
Y674N |
probably damaging |
Het |
| Jup |
T |
C |
11: 100,271,518 (GRCm39) |
|
probably benign |
Het |
| Krt84 |
T |
C |
15: 101,436,880 (GRCm39) |
T385A |
possibly damaging |
Het |
| Nbeal1 |
T |
C |
1: 60,292,572 (GRCm39) |
Y1075H |
probably damaging |
Het |
| Nphp4 |
A |
G |
4: 152,608,692 (GRCm39) |
|
probably null |
Het |
| Or10ak11 |
A |
T |
4: 118,687,449 (GRCm39) |
F63I |
probably damaging |
Het |
| Or12d17 |
A |
G |
17: 37,777,885 (GRCm39) |
T263A |
probably benign |
Het |
| Or4p7 |
G |
A |
2: 88,221,687 (GRCm39) |
C32Y |
probably damaging |
Het |
| Psmc4 |
T |
A |
7: 27,742,285 (GRCm39) |
I264L |
possibly damaging |
Het |
| Rwdd4a |
T |
C |
8: 47,995,803 (GRCm39) |
V61A |
probably benign |
Het |
| Setx |
A |
G |
2: 29,035,914 (GRCm39) |
T800A |
probably benign |
Het |
| Vmn1r74 |
T |
C |
7: 11,581,257 (GRCm39) |
C186R |
possibly damaging |
Het |
| Vsig2 |
A |
G |
9: 37,453,708 (GRCm39) |
Y136C |
probably damaging |
Het |
|
| Other mutations in Inpp5a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00913:Inpp5a
|
APN |
7 |
139,096,637 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01354:Inpp5a
|
APN |
7 |
139,118,150 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01734:Inpp5a
|
APN |
7 |
139,034,006 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL02536:Inpp5a
|
APN |
7 |
139,147,338 (GRCm39) |
missense |
probably benign |
0.17 |
|
IGL03390:Inpp5a
|
APN |
7 |
139,105,664 (GRCm39) |
missense |
probably benign |
0.01 |
|
Anza
|
UTSW |
7 |
139,105,654 (GRCm39) |
missense |
probably damaging |
1.00 |
|
borrego
|
UTSW |
7 |
139,105,586 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Cervicalis
|
UTSW |
7 |
139,061,634 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Joshua_tree
|
UTSW |
7 |
139,154,898 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4402001:Inpp5a
|
UTSW |
7 |
139,091,369 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0724:Inpp5a
|
UTSW |
7 |
139,096,579 (GRCm39) |
missense |
probably benign |
0.08 |
|
R0940:Inpp5a
|
UTSW |
7 |
139,105,654 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1258:Inpp5a
|
UTSW |
7 |
139,105,660 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2112:Inpp5a
|
UTSW |
7 |
139,154,877 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2328:Inpp5a
|
UTSW |
7 |
139,058,010 (GRCm39) |
nonsense |
probably null |
|
|
R4223:Inpp5a
|
UTSW |
7 |
139,138,821 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R4307:Inpp5a
|
UTSW |
7 |
139,154,879 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R4703:Inpp5a
|
UTSW |
7 |
139,138,839 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4781:Inpp5a
|
UTSW |
7 |
139,057,921 (GRCm39) |
missense |
probably benign |
0.11 |
|
R4997:Inpp5a
|
UTSW |
7 |
138,980,654 (GRCm39) |
missense |
probably benign |
0.07 |
|
R5762:Inpp5a
|
UTSW |
7 |
139,118,097 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6014:Inpp5a
|
UTSW |
7 |
139,154,898 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6381:Inpp5a
|
UTSW |
7 |
138,980,589 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7255:Inpp5a
|
UTSW |
7 |
139,091,364 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7324:Inpp5a
|
UTSW |
7 |
139,105,586 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7362:Inpp5a
|
UTSW |
7 |
139,158,296 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7561:Inpp5a
|
UTSW |
7 |
139,147,338 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7748:Inpp5a
|
UTSW |
7 |
139,154,911 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8178:Inpp5a
|
UTSW |
7 |
139,118,153 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8253:Inpp5a
|
UTSW |
7 |
139,061,556 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8839:Inpp5a
|
UTSW |
7 |
138,969,349 (GRCm39) |
missense |
probably benign |
0.07 |
|
R9242:Inpp5a
|
UTSW |
7 |
139,061,634 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9340:Inpp5a
|
UTSW |
7 |
138,969,380 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1177:Inpp5a
|
UTSW |
7 |
139,105,691 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2016-08-02 |
Incidental Mutation