Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03023:Inpp5a'

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) question?

Stock #

IGL03023

Quality Score

Status

Chromosome

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