Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02701:Ppip5k1'

304152

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ppip5k1

Ensembl Gene

ENSMUSG00000033526

Gene Name

diphosphoinositol pentakisphosphate kinase 1

Synonyms

Hisppd2a, B430315C20Rik

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.427) question?

Stock #

IGL02701

Quality Score

Status

Chromosome

Chromosomal Location

121310561-121355396 bp(-) (GRCm38)

Type of Mutation

splice site (6 bp from exon)

DNA Base Change (assembly)

A to C at 121316649 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000106258 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000052029] [ENSMUST00000110625] [ENSMUST00000110626] [ENSMUST00000110627] [ENSMUST00000110628]

AlphaFold

A2ARP1

Predicted Effect

probably null
Transcript: ENSMUST00000052029

SMART Domains

Protein: ENSMUSP00000057632
Gene: ENSMUSG00000033526

Domain	Start	End	E-Value	Type
low complexity region	35	48	N/A	INTRINSIC
PDB:3T99\|A	50	377	N/A	PDB
Pfam:His_Phos_2	390	906	8.8e-110	PFAM
low complexity region	1163	1181	N/A	INTRINSIC
coiled coil region	1402	1430	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000110625

SMART Domains

Protein: ENSMUSP00000106255
Gene: ENSMUSG00000033526

Domain	Start	End	E-Value	Type
low complexity region	35	48	N/A	INTRINSIC
PDB:3T99\|A	50	377	N/A	PDB
Pfam:His_Phos_2	390	906	8.5e-110	PFAM
low complexity region	1142	1160	N/A	INTRINSIC
coiled coil region	1381	1409	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000110626

SMART Domains

Protein: ENSMUSP00000106256
Gene: ENSMUSG00000033526

Domain	Start	End	E-Value	Type
low complexity region	35	48	N/A	INTRINSIC
PDB:3T99\|A	50	377	N/A	PDB
Pfam:His_Phos_2	390	906	1.1e-135	PFAM
low complexity region	1163	1181	N/A	INTRINSIC
coiled coil region	1402	1430	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000110627

SMART Domains

Protein: ENSMUSP00000106257
Gene: ENSMUSG00000033526

Domain	Start	End	E-Value	Type
low complexity region	35	48	N/A	INTRINSIC
PDB:3T99\|A	50	377	N/A	PDB
Pfam:His_Phos_2	390	906	8.5e-110	PFAM
low complexity region	1142	1160	N/A	INTRINSIC
coiled coil region	1381	1409	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000110628

SMART Domains

Protein: ENSMUSP00000106258
Gene: ENSMUSG00000033526

Domain	Start	End	E-Value	Type
low complexity region	35	48	N/A	INTRINSIC
PDB:3T99\|A	50	377	N/A	PDB
Pfam:His_Phos_2	390	886	3.9e-101	PFAM
low complexity region	1143	1161	N/A	INTRINSIC
coiled coil region	1382	1410	N/A	INTRINSIC

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 dual functional inositol kinase. The encoded enzyme converts inositol hexakisphosphate to diphosphoinositol pentakisphosphate and diphosphoinositol pentakisphosphate to bis-diphosphoinositol tetrakisphosphate. This protein may be important for intracellular signaling pathways. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 15.[provided by RefSeq, Jun 2010]

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700015F17Rik	A	G	5: 5,466,623		probably null	Het
4833423E24Rik	A	G	2: 85,484,169	L480P	probably damaging	Het
Arhgap21	A	G	2: 20,892,091	C125R	probably damaging	Het
Blmh	A	G	11: 76,971,910	D383G	probably benign	Het
Brca1	T	C	11: 101,525,235	E691G	probably damaging	Het
Chrm3	G	A	13: 9,878,464	R179*	probably null	Het
Cnrip1	A	G	11: 17,078,415	T116A	probably benign	Het
Csmd2	T	C	4: 128,496,141	V2223A	probably benign	Het
Dalrd3	T	A	9: 108,572,284	V143D	possibly damaging	Het
Ddx60	A	T	8: 61,979,341	I886L	probably damaging	Het
Dennd4a	T	C	9: 64,897,353	F1325L	possibly damaging	Het
Dnmt3l	A	T	10: 78,055,022	T253S	probably benign	Het
Gde1	T	A	7: 118,698,637	T9S	probably damaging	Het
Ggcx	T	A	6: 72,418,472		probably benign	Het
Gm813	G	A	16: 58,615,807	S51L	probably benign	Het
Hspg2	C	T	4: 137,557,174	A3481V	probably damaging	Het
Igf1r	T	C	7: 68,201,249	Y931H	possibly damaging	Het
Ighv12-3	A	C	12: 114,366,801	S25A	probably damaging	Het
Itga5	A	C	15: 103,347,766	C920G	probably damaging	Het
Kmt5b	A	G	19: 3,796,681	D118G	probably benign	Het
Lrp1b	T	G	2: 41,246,017	N1647T	possibly damaging	Het
Lrrc71	T	C	3: 87,741,772	E363G	probably benign	Het
Mapk1	A	G	16: 17,015,906	Y41C	probably benign	Het
Mib1	T	C	18: 10,747,357	V178A	probably damaging	Het
Olfr1022	A	G	2: 85,869,458	I289V	probably benign	Het
Olfr159	A	G	4: 43,770,366	I215T	probably benign	Het
Olfr472	A	T	7: 107,903,442	T242S	probably benign	Het
Plb1	T	C	5: 32,364,197	V1464A	unknown	Het
Plekhg5	T	C	4: 152,103,022	S82P	probably damaging	Het
Plxna4	T	C	6: 32,517,559	T41A	probably benign	Het
Rpl14	T	C	9: 120,573,573		probably benign	Het
Slc44a2	T	C	9: 21,347,951	F554L	probably benign	Het
Slco1b2	T	A	6: 141,685,545	V635E	probably benign	Het
Sv2a	T	A	3: 96,187,131	C261S	probably damaging	Het
Thbs2	T	C	17: 14,683,361	I353V	probably benign	Het
Tspan4	G	A	7: 141,492,028	V205M	probably damaging	Het
Vezf1	A	T	11: 88,076,221	R93*	probably null	Het
Wwox	T	A	8: 114,706,368	V258D	probably damaging	Het
Zmynd12	G	T	4: 119,444,755		probably benign	Het

Other mutations in Ppip5k1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00909:Ppip5k1	APN	2	121347358	missense	probably damaging	1.00
IGL01154:Ppip5k1	APN	2	121343179	missense	probably damaging	1.00
IGL01341:Ppip5k1	APN	2	121343210	nonsense	probably null
IGL01704:Ppip5k1	APN	2	121312074	missense	possibly damaging	0.74
IGL01949:Ppip5k1	APN	2	121337860	missense	probably benign
IGL02101:Ppip5k1	APN	2	121331608	missense	possibly damaging	0.84
IGL02499:Ppip5k1	APN	2	121331553	splice site	probably null
IGL03188:Ppip5k1	APN	2	121326846	unclassified	probably benign
boca	UTSW	2	121311969	missense	probably damaging	0.96
lapidus	UTSW	2	121337463	missense	probably benign	0.29
Roca	UTSW	2	121336751	missense	probably damaging	0.98
R0363:Ppip5k1	UTSW	2	121347355	missense	probably damaging	1.00
R1315:Ppip5k1	UTSW	2	121312005	missense	probably benign	0.13
R1664:Ppip5k1	UTSW	2	121337182	missense	probably benign	0.02
R1753:Ppip5k1	UTSW	2	121342631	missense	probably damaging	1.00
R1759:Ppip5k1	UTSW	2	121350586	missense	probably benign	0.32
R1763:Ppip5k1	UTSW	2	121348547	missense	probably damaging	1.00
R2033:Ppip5k1	UTSW	2	121337627	missense	probably damaging	1.00
R2037:Ppip5k1	UTSW	2	121343193	missense	probably damaging	1.00
R2066:Ppip5k1	UTSW	2	121342871	unclassified	probably benign
R2103:Ppip5k1	UTSW	2	121321653	splice site	probably null
R3414:Ppip5k1	UTSW	2	121327661	missense	probably damaging	0.97
R4022:Ppip5k1	UTSW	2	121337627	missense	probably damaging	1.00
R4569:Ppip5k1	UTSW	2	121343563	missense	possibly damaging	0.69
R4783:Ppip5k1	UTSW	2	121340848	missense	possibly damaging	0.95
R4843:Ppip5k1	UTSW	2	121326887	missense	probably damaging	1.00
R4981:Ppip5k1	UTSW	2	121312390	missense	probably damaging	1.00
R5353:Ppip5k1	UTSW	2	121311720	missense	probably benign	0.00
R5493:Ppip5k1	UTSW	2	121336772	missense	probably damaging	1.00
R5654:Ppip5k1	UTSW	2	121316676	missense	probably benign	0.00
R5835:Ppip5k1	UTSW	2	121337899	missense	probably benign	0.01
R5987:Ppip5k1	UTSW	2	121350491	nonsense	probably null
R6076:Ppip5k1	UTSW	2	121337110	missense	probably null	1.00
R6088:Ppip5k1	UTSW	2	121337463	missense	probably benign	0.29
R6276:Ppip5k1	UTSW	2	121323203	unclassified	probably benign
R6555:Ppip5k1	UTSW	2	121337612	missense	probably damaging	0.99
R6878:Ppip5k1	UTSW	2	121311936	missense	probably benign	0.00
R7075:Ppip5k1	UTSW	2	121321750	missense	probably damaging	1.00
R7251:Ppip5k1	UTSW	2	121347571	missense	probably benign	0.05
R7332:Ppip5k1	UTSW	2	121311969	missense	probably damaging	0.96
R7359:Ppip5k1	UTSW	2	121340848	missense	possibly damaging	0.95
R7462:Ppip5k1	UTSW	2	121336751	missense	probably damaging	0.98
R7568:Ppip5k1	UTSW	2	121337615	missense	probably damaging	1.00
R7654:Ppip5k1	UTSW	2	121348559	missense	probably damaging	1.00
R7678:Ppip5k1	UTSW	2	121337661	missense	probably damaging	1.00
R7841:Ppip5k1	UTSW	2	121342795	missense	probably benign	0.13
R7877:Ppip5k1	UTSW	2	121316754	missense	probably benign	0.01
R7896:Ppip5k1	UTSW	2	121347330	missense	probably damaging	1.00
R7901:Ppip5k1	UTSW	2	121311909	missense	probably damaging	0.99
R7911:Ppip5k1	UTSW	2	121342658	missense	possibly damaging	0.89
R8167:Ppip5k1	UTSW	2	121342801	nonsense	probably null
R8179:Ppip5k1	UTSW	2	121341614	critical splice donor site	probably null
R8766:Ppip5k1	UTSW	2	121336438	nonsense	probably null
R8954:Ppip5k1	UTSW	2	121323220	unclassified	probably benign
R8981:Ppip5k1	UTSW	2	121327640	unclassified	probably benign
R9127:Ppip5k1	UTSW	2	121327644	critical splice donor site	probably null
R9165:Ppip5k1	UTSW	2	121331564	missense	probably damaging	1.00
R9244:Ppip5k1	UTSW	2	121334451	missense	probably benign	0.30
R9338:Ppip5k1	UTSW	2	121323346	missense
R9662:Ppip5k1	UTSW	2	121343573	missense	probably benign	0.15
X0020:Ppip5k1	UTSW	2	121341655	missense	probably damaging	0.99
Z1176:Ppip5k1	UTSW	2	121337866	missense	probably damaging	1.00

Posted On

2015-04-16