Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00529:Inpp5k'

13555

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Inpp5k

Ensembl Gene

ENSMUSG00000006127

Gene Name

inositol polyphosphate 5-phosphatase K

Synonyms

C62, PI-5-phosphatase related, putative PI-5-phosphatase, Pps

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL00529

Quality Score

Status

Chromosome

Chromosomal Location

75521814-75539697 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to G at 75522030 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000137510 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006286] [ENSMUST00000102509] [ENSMUST00000143219] [ENSMUST00000150857] [ENSMUST00000179445] [ENSMUST00000179521]

AlphaFold

Q8C5L6

Predicted Effect

probably benign
Transcript: ENSMUST00000006286

SMART Domains

Protein: ENSMUSP00000006286
Gene: ENSMUSG00000006127

Domain	Start	End	E-Value	Type
IPPc	30	345	1.03e-148	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000102509

SMART Domains

Protein: ENSMUSP00000099567
Gene: ENSMUSG00000017781

Domain	Start	End	E-Value	Type
Pfam:IP_trans	2	99	1e-57	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129298

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136605

Predicted Effect

probably benign
Transcript: ENSMUST00000143219

SMART Domains

Protein: ENSMUSP00000115723
Gene: ENSMUSG00000017781

Domain	Start	End	E-Value	Type
Pfam:IP_trans	2	255	4.7e-147	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000150857

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153768

Predicted Effect

probably benign
Transcript: ENSMUST00000179445

SMART Domains

Protein: ENSMUSP00000137601
Gene: ENSMUSG00000017781

Domain	Start	End	E-Value	Type
Pfam:IP_trans	2	255	6.7e-146	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000179521

SMART Domains

Protein: ENSMUSP00000137510
Gene: ENSMUSG00000017781

Domain	Start	End	E-Value	Type
Pfam:IP_trans	2	254	3.2e-123	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein with 5-phosphatase activity toward polyphosphate inositol. The protein localizes to the cytosol in regions lacking actin stress fibers. It is thought that this protein may negatively regulate the actin cytoskeleton. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Oct 2008]
PHENOTYPE: Homozygous disruption of this gene leads to embryonic lethality. Adult heterozygous mutant mice show normal food intake and adiposity but exhibit enhanced glucose homeostasis and insulin sensitivity, increased insulin action in skeletal muscle, and reduced diet-induced obesity. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 10 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl1	T	C	8: 46,966,797 (GRCm39)		probably benign	Het
Cd36	A	G	5: 17,992,700 (GRCm39)	I413T	probably damaging	Het
Fancm	A	G	12: 65,177,191 (GRCm39)		probably benign	Het
Golim4	A	T	3: 75,793,618 (GRCm39)	N599K	probably damaging	Het
Herc2	T	C	7: 55,807,501 (GRCm39)	V2530A	probably benign	Het
Nt5c	A	T	11: 115,382,151 (GRCm39)	L76*	probably null	Het
Slc25a4	T	C	8: 46,662,346 (GRCm39)	D104G	probably damaging	Het
Smchd1	A	G	17: 71,701,794 (GRCm39)	V1066A	probably benign	Het
Snapc1	A	G	12: 74,011,429 (GRCm39)	T32A	probably benign	Het
Usp32	G	A	11: 84,885,252 (GRCm39)	A1265V	probably damaging	Het

Other mutations in Inpp5k

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00096:Inpp5k	APN	11	75,537,646 (GRCm39)	missense	possibly damaging	0.72
IGL00470:Inpp5k	APN	11	75,536,351 (GRCm39)	missense	probably benign	0.00
IGL01761:Inpp5k	APN	11	75,538,503 (GRCm39)	missense	possibly damaging	0.75
IGL02532:Inpp5k	APN	11	75,524,010 (GRCm39)	unclassified	probably benign
R0081:Inpp5k	UTSW	11	75,521,973 (GRCm39)	frame shift	probably null
R0206:Inpp5k	UTSW	11	75,521,969 (GRCm39)	missense	probably benign
R0206:Inpp5k	UTSW	11	75,521,969 (GRCm39)	missense	probably benign
R0520:Inpp5k	UTSW	11	75,530,356 (GRCm39)	nonsense	probably null
R0841:Inpp5k	UTSW	11	75,524,285 (GRCm39)	unclassified	probably benign
R1145:Inpp5k	UTSW	11	75,524,285 (GRCm39)	unclassified	probably benign
R1433:Inpp5k	UTSW	11	75,528,317 (GRCm39)	missense	probably benign	0.00
R1605:Inpp5k	UTSW	11	75,524,307 (GRCm39)	missense	probably benign	0.00
R2144:Inpp5k	UTSW	11	75,538,017 (GRCm39)	critical splice acceptor site	probably null
R2145:Inpp5k	UTSW	11	75,538,017 (GRCm39)	critical splice acceptor site	probably null
R2296:Inpp5k	UTSW	11	75,530,313 (GRCm39)	missense	probably damaging	1.00
R3783:Inpp5k	UTSW	11	75,538,512 (GRCm39)	missense	probably damaging	0.99
R3784:Inpp5k	UTSW	11	75,538,512 (GRCm39)	missense	probably damaging	0.99
R3785:Inpp5k	UTSW	11	75,538,512 (GRCm39)	missense	probably damaging	0.99
R3787:Inpp5k	UTSW	11	75,538,512 (GRCm39)	missense	probably damaging	0.99
R5999:Inpp5k	UTSW	11	75,523,926 (GRCm39)	missense	probably damaging	0.99
R6337:Inpp5k	UTSW	11	75,537,640 (GRCm39)	missense	probably damaging	1.00
R6405:Inpp5k	UTSW	11	75,524,004 (GRCm39)	critical splice donor site	probably null
R9338:Inpp5k	UTSW	11	75,536,411 (GRCm39)	missense	probably damaging	1.00

Posted On

2012-12-06