Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01471:Inpp5f'

88270

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Inpp5f

Ensembl Gene

ENSMUSG00000042105

Gene Name

inositol polyphosphate-5-phosphatase F

Synonyms

cI-27, 5830435P03Rik, SAC2

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.310) question?

Stock #

IGL01471

Quality Score

Status

Chromosome

Chromosomal Location

128213052-128298149 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 128277122 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 406 (V406A)

Ref Sequence

ENSEMBL: ENSMUSP00000045910 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043138]

AlphaFold

Q8CDA1

Predicted Effect

probably damaging
Transcript: ENSMUST00000043138
AA Change: V406A

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000045910
Gene: ENSMUSG00000042105
AA Change: V406A

Domain	Start	End	E-Value	Type
Pfam:Syja_N	49	416	1.2e-85	PFAM
Blast:IPPc	449	568	6e-13	BLAST
Pfam:hSac2	590	698	9.1e-25	PFAM
low complexity region	1042	1054	N/A	INTRINSIC
low complexity region	1059	1065	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000098007

SMART Domains

Protein: ENSMUSP00000095616
Gene: ENSMUSG00000042105

Domain	Start	End	E-Value	Type
Pfam:Syja_N	48	410	1.2e-79	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129085

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142075

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 an inositol 1,4,5-trisphosphate (InsP3) 5-phosphatase and contains a Sac domain. The activity of this protein is specific for phosphatidylinositol 4,5-bisphosphate and phosphatidylinositol 3,4,5-trisphosphate. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2011]
PHENOTYPE: Mice homozygous for a gene trap allele exhibit increased isoproterenol-induced cardiac hypertrophy. [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
Cacna1b	A	G	2: 24,547,304 (GRCm39)	S1226P	probably damaging	Het
Cdx2	A	G	5: 147,240,059 (GRCm39)	F206L	probably benign	Het
Cldn1	T	A	16: 26,190,322 (GRCm39)	I19F	possibly damaging	Het
Ly6m	A	G	15: 74,751,749 (GRCm39)	V95A	probably benign	Het
Myh4	C	T	11: 67,146,205 (GRCm39)	T1421M	probably damaging	Het
Pard3	A	G	8: 128,104,727 (GRCm39)	T490A	probably benign	Het
Rnf138	G	A	18: 21,157,578 (GRCm39)		probably null	Het
Slc12a4	T	C	8: 106,670,721 (GRCm39)	Y1084C	probably damaging	Het
Sppl2a	A	T	2: 126,759,787 (GRCm39)	L48*	probably null	Het
Trp53	C	A	11: 69,479,349 (GRCm39)	H173N	probably damaging	Het

Other mutations in Inpp5f

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00650:Inpp5f	APN	7	128,265,991 (GRCm39)	missense	probably benign	0.04
IGL01316:Inpp5f	APN	7	128,292,430 (GRCm39)	splice site	probably benign
IGL01455:Inpp5f	APN	7	128,279,773 (GRCm39)	missense	probably damaging	1.00
IGL01590:Inpp5f	APN	7	128,266,031 (GRCm39)	critical splice donor site	probably null
IGL01942:Inpp5f	APN	7	128,269,493 (GRCm39)	missense	probably damaging	1.00
IGL02092:Inpp5f	APN	7	128,286,948 (GRCm39)	missense	probably damaging	1.00
IGL02137:Inpp5f	APN	7	128,296,853 (GRCm39)	missense	probably damaging	1.00
IGL02664:Inpp5f	APN	7	128,265,738 (GRCm39)	missense	probably damaging	1.00
IGL02812:Inpp5f	APN	7	128,284,030 (GRCm39)	missense	probably damaging	1.00
IGL02942:Inpp5f	APN	7	128,296,624 (GRCm39)	missense	probably benign	0.29
PIT4480001:Inpp5f	UTSW	7	128,286,858 (GRCm39)	missense	probably benign	0.32
PIT4812001:Inpp5f	UTSW	7	128,294,032 (GRCm39)	missense	probably benign	0.39
R0243:Inpp5f	UTSW	7	128,296,907 (GRCm39)	missense	probably damaging	1.00
R0346:Inpp5f	UTSW	7	128,292,392 (GRCm39)	missense	probably damaging	1.00
R1186:Inpp5f	UTSW	7	128,296,307 (GRCm39)	missense	probably benign
R1375:Inpp5f	UTSW	7	128,265,753 (GRCm39)	nonsense	probably null
R1918:Inpp5f	UTSW	7	128,265,693 (GRCm39)	splice site	probably benign
R2307:Inpp5f	UTSW	7	128,296,034 (GRCm39)	missense	probably damaging	1.00
R3716:Inpp5f	UTSW	7	128,292,394 (GRCm39)	missense	probably damaging	1.00
R4157:Inpp5f	UTSW	7	128,281,423 (GRCm39)	intron	probably benign
R4647:Inpp5f	UTSW	7	128,260,833 (GRCm39)	missense	possibly damaging	0.94
R4705:Inpp5f	UTSW	7	128,265,711 (GRCm39)	missense	probably damaging	0.97
R4713:Inpp5f	UTSW	7	128,265,449 (GRCm39)	missense	probably damaging	0.99
R4818:Inpp5f	UTSW	7	128,286,853 (GRCm39)	missense	probably damaging	1.00
R4914:Inpp5f	UTSW	7	128,286,840 (GRCm39)	missense	probably damaging	1.00
R4915:Inpp5f	UTSW	7	128,286,840 (GRCm39)	missense	probably damaging	1.00
R4917:Inpp5f	UTSW	7	128,286,840 (GRCm39)	missense	probably damaging	1.00
R5069:Inpp5f	UTSW	7	128,278,451 (GRCm39)	critical splice acceptor site	probably null
R5181:Inpp5f	UTSW	7	128,281,555 (GRCm39)	missense	probably damaging	1.00
R5234:Inpp5f	UTSW	7	128,265,407 (GRCm39)	missense	probably benign
R6299:Inpp5f	UTSW	7	128,237,884 (GRCm39)	missense	possibly damaging	0.87
R6389:Inpp5f	UTSW	7	128,279,780 (GRCm39)	missense	probably damaging	1.00
R6530:Inpp5f	UTSW	7	128,265,802 (GRCm39)	nonsense	probably null
R6545:Inpp5f	UTSW	7	128,296,280 (GRCm39)	missense	possibly damaging	0.88
R7259:Inpp5f	UTSW	7	128,271,681 (GRCm39)	missense	probably benign	0.00
R7383:Inpp5f	UTSW	7	128,296,310 (GRCm39)	missense	probably damaging	1.00
R7427:Inpp5f	UTSW	7	128,281,529 (GRCm39)	missense	probably damaging	1.00
R7428:Inpp5f	UTSW	7	128,281,529 (GRCm39)	missense	probably damaging	1.00
R7679:Inpp5f	UTSW	7	128,296,247 (GRCm39)	missense	possibly damaging	0.68
R7809:Inpp5f	UTSW	7	128,269,367 (GRCm39)	missense	probably damaging	1.00
R7840:Inpp5f	UTSW	7	128,296,526 (GRCm39)	missense	probably benign
R7912:Inpp5f	UTSW	7	128,294,037 (GRCm39)	missense	probably benign
R7915:Inpp5f	UTSW	7	128,269,433 (GRCm39)	missense	probably benign	0.25
R7960:Inpp5f	UTSW	7	128,295,638 (GRCm39)	splice site	probably null
R8027:Inpp5f	UTSW	7	128,292,397 (GRCm39)	missense	probably damaging	1.00
R8154:Inpp5f	UTSW	7	128,265,991 (GRCm39)	missense	possibly damaging	0.73
R8213:Inpp5f	UTSW	7	128,281,529 (GRCm39)	missense	probably damaging	1.00
R9499:Inpp5f	UTSW	7	128,295,437 (GRCm39)	missense	possibly damaging	0.62
R9519:Inpp5f	UTSW	7	128,278,515 (GRCm39)	missense	possibly damaging	0.62
R9544:Inpp5f	UTSW	7	128,278,515 (GRCm39)	missense	possibly damaging	0.62
R9597:Inpp5f	UTSW	7	128,278,515 (GRCm39)	missense	possibly damaging	0.62
R9598:Inpp5f	UTSW	7	128,278,515 (GRCm39)	missense	possibly damaging	0.62
R9634:Inpp5f	UTSW	7	128,278,515 (GRCm39)	missense	possibly damaging	0.62
R9701:Inpp5f	UTSW	7	128,278,515 (GRCm39)	missense	possibly damaging	0.62
R9702:Inpp5f	UTSW	7	128,278,515 (GRCm39)	missense	possibly damaging	0.62
R9784:Inpp5f	UTSW	7	128,278,515 (GRCm39)	missense	possibly damaging	0.62
R9802:Inpp5f	UTSW	7	128,278,515 (GRCm39)	missense	possibly damaging	0.62
R9803:Inpp5f	UTSW	7	128,278,515 (GRCm39)	missense	possibly damaging	0.62
RF001:Inpp5f	UTSW	7	128,296,807 (GRCm39)	missense	probably damaging	1.00
X0061:Inpp5f	UTSW	7	128,284,021 (GRCm39)	missense	probably damaging	1.00
Z1088:Inpp5f	UTSW	7	128,296,673 (GRCm39)	missense	probably benign	0.17

Posted On

2013-11-18