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 | |
Is this an essential gene? |
Essential (E-score: 1.000)
|
Stock # | IGL03023
|
Quality Score | |
Status |
|
Chromosome | 7 |
Chromosomal Location | 139389109-139579652 bp(+) (GRCm38) |
Type of Mutation | splice site (5 bp from exon) |
DNA Base Change (assembly) |
G to A
at 139525786 bp
|
Zygosity | Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000101704
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026550]
[ENSMUST00000097975]
[ENSMUST00000106098]
|
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: 40,904,984 |
D28G |
probably damaging |
Het |
BC067074 |
A |
G |
13: 113,351,741 |
D99G |
probably benign |
Het |
Btaf1 |
C |
T |
19: 37,010,015 |
R1746C |
possibly damaging |
Het |
Comp |
T |
C |
8: 70,378,610 |
|
probably benign |
Het |
Cyp2d9 |
A |
G |
15: 82,455,518 |
T313A |
probably damaging |
Het |
Cyp3a59 |
T |
A |
5: 146,085,850 |
D55E |
probably benign |
Het |
Dysf |
A |
G |
6: 84,193,007 |
Y1790C |
probably damaging |
Het |
Fmo3 |
A |
C |
1: 162,958,465 |
F319V |
probably benign |
Het |
Frem2 |
A |
T |
3: 53,655,628 |
V486D |
probably benign |
Het |
Gucy2c |
A |
T |
6: 136,702,796 |
|
probably null |
Het |
Hdac7 |
A |
T |
15: 97,797,957 |
Y674N |
probably damaging |
Het |
Jup |
T |
C |
11: 100,380,692 |
|
probably benign |
Het |
Krt84 |
T |
C |
15: 101,528,445 |
T385A |
possibly damaging |
Het |
Nbeal1 |
T |
C |
1: 60,253,413 |
Y1075H |
probably damaging |
Het |
Nphp4 |
A |
G |
4: 152,524,235 |
|
probably null |
Het |
Olfr109 |
A |
G |
17: 37,466,994 |
T263A |
probably benign |
Het |
Olfr1178 |
G |
A |
2: 88,391,343 |
C32Y |
probably damaging |
Het |
Olfr1333 |
A |
T |
4: 118,830,252 |
F63I |
probably damaging |
Het |
Psmc4 |
T |
A |
7: 28,042,860 |
I264L |
possibly damaging |
Het |
Rwdd4a |
T |
C |
8: 47,542,768 |
V61A |
probably benign |
Het |
Setx |
A |
G |
2: 29,145,902 |
T800A |
probably benign |
Het |
Vmn1r74 |
T |
C |
7: 11,847,330 |
C186R |
possibly damaging |
Het |
Vsig2 |
A |
G |
9: 37,542,412 |
Y136C |
probably damaging |
Het |
|
Other mutations in Inpp5a |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00913:Inpp5a
|
APN |
7 |
139516721 |
missense |
probably benign |
0.00 |
IGL01354:Inpp5a
|
APN |
7 |
139538234 |
missense |
probably damaging |
0.99 |
IGL01734:Inpp5a
|
APN |
7 |
139454090 |
missense |
possibly damaging |
0.92 |
IGL02536:Inpp5a
|
APN |
7 |
139567422 |
missense |
probably benign |
0.17 |
IGL03390:Inpp5a
|
APN |
7 |
139525748 |
missense |
probably benign |
0.01 |
Anza
|
UTSW |
7 |
139525738 |
missense |
probably damaging |
1.00 |
borrego
|
UTSW |
7 |
139525670 |
missense |
probably damaging |
1.00 |
Joshua_tree
|
UTSW |
7 |
139574982 |
missense |
probably damaging |
1.00 |
PIT4402001:Inpp5a
|
UTSW |
7 |
139511453 |
missense |
probably benign |
0.02 |
R0724:Inpp5a
|
UTSW |
7 |
139516663 |
missense |
probably benign |
0.08 |
R0940:Inpp5a
|
UTSW |
7 |
139525738 |
missense |
probably damaging |
1.00 |
R1258:Inpp5a
|
UTSW |
7 |
139525744 |
missense |
probably damaging |
1.00 |
R2112:Inpp5a
|
UTSW |
7 |
139574961 |
missense |
probably damaging |
0.99 |
R2328:Inpp5a
|
UTSW |
7 |
139478094 |
nonsense |
probably null |
|
R4223:Inpp5a
|
UTSW |
7 |
139558905 |
missense |
possibly damaging |
0.72 |
R4307:Inpp5a
|
UTSW |
7 |
139574963 |
missense |
possibly damaging |
0.87 |
R4703:Inpp5a
|
UTSW |
7 |
139558923 |
missense |
probably damaging |
1.00 |
R4781:Inpp5a
|
UTSW |
7 |
139478005 |
missense |
probably benign |
0.11 |
R4997:Inpp5a
|
UTSW |
7 |
139400738 |
missense |
probably benign |
0.07 |
R5762:Inpp5a
|
UTSW |
7 |
139538181 |
missense |
possibly damaging |
0.95 |
R6014:Inpp5a
|
UTSW |
7 |
139574982 |
missense |
probably damaging |
1.00 |
R6381:Inpp5a
|
UTSW |
7 |
139400673 |
missense |
probably benign |
0.00 |
R7255:Inpp5a
|
UTSW |
7 |
139511448 |
missense |
probably damaging |
0.96 |
R7324:Inpp5a
|
UTSW |
7 |
139525670 |
missense |
probably damaging |
1.00 |
R7362:Inpp5a
|
UTSW |
7 |
139578380 |
missense |
probably benign |
0.00 |
R7561:Inpp5a
|
UTSW |
7 |
139567422 |
missense |
probably damaging |
0.99 |
R7748:Inpp5a
|
UTSW |
7 |
139574995 |
missense |
probably damaging |
0.96 |
R8178:Inpp5a
|
UTSW |
7 |
139538237 |
missense |
probably damaging |
1.00 |
R8253:Inpp5a
|
UTSW |
7 |
139481640 |
missense |
probably damaging |
0.99 |
Z1177:Inpp5a
|
UTSW |
7 |
139525775 |
missense |
probably damaging |
0.99 |
|
Posted On | 2016-08-02 |