Mutagenetix > Incidental Mutation

Incidental Mutation 'R8954:Ppip5k1'

681807

Institutional Source

Beutler Lab

Gene Symbol

Ppip5k1

Ensembl Gene

ENSMUSG00000033526

Gene Name

diphosphoinositol pentakisphosphate kinase 1

Synonyms

B430315C20Rik, Hisppd2a

MMRRC Submission

068790-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.295) question?

Stock #

R8954 (G1)

Quality Score

215.009

Status

Not validated

Chromosome

Chromosomal Location

121141042-121185877 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

C to G at 121153701 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000116335 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000052029] [ENSMUST00000110625] [ENSMUST00000110626] [ENSMUST00000110627] [ENSMUST00000110628] [ENSMUST00000155568]

AlphaFold

A2ARP1

Predicted Effect

probably benign
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 benign
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 benign
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 benign
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 benign
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

Predicted Effect

probably benign
Transcript: ENSMUST00000127255

SMART Domains

Protein: ENSMUSP00000118597
Gene: ENSMUSG00000033526

Domain	Start	End	E-Value	Type
Pfam:His_Phos_2	1	54	6.7e-9	PFAM
low complexity region	142	162	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000132114

SMART Domains

Protein: ENSMUSP00000117948
Gene: ENSMUSG00000033526

Domain	Start	End	E-Value	Type
Pfam:His_Phos_2	1	117	1.4e-30	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000155568

SMART Domains

Protein: ENSMUSP00000116335
Gene: ENSMUSG00000033526

Domain	Start	End	E-Value	Type
Pfam:His_Phos_2	1	107	8.6e-23	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

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: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Accsl	T	A	2: 93,688,299 (GRCm39)	Y445F	probably benign	Het
Actn4	T	C	7: 28,594,583 (GRCm39)	D815G	probably damaging	Het
Adam4	T	C	12: 81,467,146 (GRCm39)	S492G	possibly damaging	Het
Anapc2	A	G	2: 25,170,490 (GRCm39)	K643E	probably benign	Het
Ankfy1	T	A	11: 72,641,317 (GRCm39)	I630K	possibly damaging	Het
Arhgap24	A	G	5: 103,040,136 (GRCm39)	T361A	probably benign	Het
Arhgef28	T	C	13: 98,066,141 (GRCm39)	M1571V	probably benign	Het
Arid5b	A	C	10: 67,937,810 (GRCm39)	V196G	possibly damaging	Het
Art2b	C	A	7: 101,229,110 (GRCm39)		probably null	Het
Asxl3	G	A	18: 22,650,807 (GRCm39)	R932H	probably damaging	Het
B3galnt1	T	C	3: 69,482,673 (GRCm39)	N196S	possibly damaging	Het
Brd10	A	T	19: 29,696,126 (GRCm39)	N1122K	possibly damaging	Het
C5ar2	C	A	7: 15,971,733 (GRCm39)	V65F	possibly damaging	Het
Cfap54	A	T	10: 92,879,255 (GRCm39)	L403Q	probably damaging	Het
Cfap74	G	A	4: 155,521,187 (GRCm39)	E620K		Het
Chac1	C	T	2: 119,183,836 (GRCm39)	A146V	probably damaging	Het
Cpne2	T	A	8: 95,284,774 (GRCm39)	S317T	probably damaging	Het
Cux1	T	A	5: 136,402,203 (GRCm39)	K138*	probably null	Het
Cwc22	T	A	2: 77,754,937 (GRCm39)	Y214F	probably damaging	Het
Cyp2c39	A	T	19: 39,525,197 (GRCm39)	T167S	probably benign	Het
Cyp4a12a	T	A	4: 115,185,935 (GRCm39)	Y414*	probably null	Het
Dap3	A	T	3: 88,835,570 (GRCm39)	D256E	probably damaging	Het
Dmxl2	C	T	9: 54,381,156 (GRCm39)	S110N	probably benign	Het
Dnhd1	A	T	7: 105,343,986 (GRCm39)	I1777L	probably benign	Het
Ecel1	G	A	1: 87,076,349 (GRCm39)	Q717*	probably null	Het
Efcab3	T	G	11: 104,909,525 (GRCm39)		probably null	Het
Eif3j2	G	A	18: 43,610,699 (GRCm39)	T38M	possibly damaging	Het
Fat3	T	C	9: 16,287,864 (GRCm39)	H553R	probably benign	Het
Fcho2	T	C	13: 98,913,985 (GRCm39)	D204G	probably benign	Het
Frmpd1	A	T	4: 45,284,702 (GRCm39)	E1174D	probably benign	Het
Gabra6	T	A	11: 42,205,959 (GRCm39)	Y299F	probably damaging	Het
Gak	G	A	5: 108,777,518 (GRCm39)		probably benign	Het
Gapdhs	T	A	7: 30,432,591 (GRCm39)	H214L	probably damaging	Het
Gapvd1	T	C	2: 34,568,110 (GRCm39)	Y1418C	probably damaging	Het
Gk5	C	A	9: 96,059,562 (GRCm39)	D471E	probably benign	Het
Glg1	A	G	8: 111,914,527 (GRCm39)	M419T	probably damaging	Het
H2ac25	T	A	11: 58,845,785 (GRCm39)	N74K	possibly damaging	Het
Ice1	T	C	13: 70,758,697 (GRCm39)	N215S	probably damaging	Het
Idh2	TCCCAGG	T	7: 79,748,079 (GRCm39)		probably benign	Het
Ifitm10	T	C	7: 141,882,300 (GRCm39)	N157D	probably benign	Het
Itga11	A	G	9: 62,676,545 (GRCm39)	D911G	possibly damaging	Het
Kcnt1	A	G	2: 25,784,338 (GRCm39)	N247S	probably benign	Het
Kirrel1	T	C	3: 86,997,173 (GRCm39)	T265A	probably benign	Het
Klhl29	A	T	12: 5,187,542 (GRCm39)	L274H	possibly damaging	Het
Kmt2b	T	G	7: 30,273,640 (GRCm39)	T2326P	probably damaging	Het
Lcn11	A	G	2: 25,669,265 (GRCm39)	S141G	probably benign	Het
Ldb3	T	C	14: 34,277,301 (GRCm39)	R358G	probably null	Het
Ldlr	G	A	9: 21,650,828 (GRCm39)	D446N	possibly damaging	Het
Lipt2	T	C	7: 99,809,449 (GRCm39)	F179L	probably damaging	Het
Lmbrd1	G	T	1: 24,745,121 (GRCm39)	V154F	possibly damaging	Het
Malrd1	A	G	2: 15,556,178 (GRCm39)	I99V		Het
Map1b	T	A	13: 99,570,735 (GRCm39)	E662V	unknown	Het
Mfsd11	T	C	11: 116,750,162 (GRCm39)	S100P	probably damaging	Het
Mgst1	C	T	6: 138,119,967 (GRCm39)		probably benign	Het
Mtf1	T	A	4: 124,698,649 (GRCm39)	V49D	probably damaging	Het
Mtss1	T	C	15: 58,826,986 (GRCm39)	D236G	probably damaging	Het
Myct1	C	T	10: 5,554,208 (GRCm39)	T25I	probably damaging	Het
Myh4	T	A	11: 67,143,806 (GRCm39)	F1089I	possibly damaging	Het
Nrxn1	A	T	17: 90,897,615 (GRCm39)	I835K	probably damaging	Het
Nsd3	T	A	8: 26,163,394 (GRCm39)	S595T	probably damaging	Het
Nt5c2	A	T	19: 46,877,361 (GRCm39)	S527T	probably damaging	Het
Or52m1	T	C	7: 102,289,882 (GRCm39)	V143A	probably benign	Het
Or56b2	T	A	7: 104,337,900 (GRCm39)	L226*	probably null	Het
Or5k3	T	A	16: 58,969,319 (GRCm39)	Y35*	probably null	Het
Or7e175	A	T	9: 20,048,664 (GRCm39)	D84V	probably damaging	Het
Or8k28	C	A	2: 86,285,892 (GRCm39)	C241F	probably damaging	Het
Osbpl8	A	G	10: 111,108,053 (GRCm39)	S350G	probably benign	Het
Otoa	G	A	7: 120,744,741 (GRCm39)	W833*	probably null	Het
Pcdhga6	T	G	18: 37,841,540 (GRCm39)	I420S	probably damaging	Het
Pmfbp1	A	C	8: 110,258,433 (GRCm39)	M666L	probably benign	Het
Pola2	T	G	19: 5,998,452 (GRCm39)	D370A	probably damaging	Het
Ppp1r12b	A	T	1: 134,762,200 (GRCm39)	D815E	probably benign	Het
Ppp4r3b	T	A	11: 29,155,669 (GRCm39)	V545E	possibly damaging	Het
Ptpn23	A	T	9: 110,221,568 (GRCm39)	N177K	probably damaging	Het
Rad9b	A	T	5: 122,482,293 (GRCm39)	S147R	probably benign	Het
Rps20	T	A	4: 3,834,617 (GRCm39)	M82L	probably benign	Het
Samd9l	C	T	6: 3,374,577 (GRCm39)	V895I	probably damaging	Het
Sbf2	T	A	7: 110,038,118 (GRCm39)	K396*	probably null	Het
Sbno2	G	T	10: 79,893,796 (GRCm39)	Q1198K	probably damaging	Het
Scp2d1	C	T	2: 144,665,886 (GRCm39)	T75I	probably damaging	Het
Shank3	T	A	15: 89,433,431 (GRCm39)	I1392N	possibly damaging	Het
Sidt1	A	G	16: 44,082,390 (GRCm39)	F532L	probably benign	Het
Smchd1	A	T	17: 71,755,752 (GRCm39)	V243D	probably damaging	Het
Smg1	T	C	7: 117,806,215 (GRCm39)	R185G	probably damaging	Het
Spag16	C	T	1: 70,036,004 (GRCm39)	S344F		Het
Spata31f3	G	T	4: 42,871,753 (GRCm39)	D207E	probably damaging	Het
Spsb3	A	G	17: 25,110,493 (GRCm39)	D440G	probably damaging	Het
Themis	A	C	10: 28,665,709 (GRCm39)	S591R	probably benign	Het
Trpm1	G	A	7: 63,858,089 (GRCm39)	V177I	probably damaging	Het
Usp37	A	G	1: 74,514,143 (GRCm39)		probably null	Het
Vmn1r171	C	T	7: 23,332,525 (GRCm39)	T238I	probably damaging	Het
Vmn2r33	T	C	7: 7,554,655 (GRCm39)	M633V	probably benign	Het
Vmn2r93	T	A	17: 18,546,252 (GRCm39)	L708H	probably damaging	Het
Vps35l	A	T	7: 118,393,801 (GRCm39)	T450S	possibly damaging	Het
Wdr53	T	A	16: 32,075,473 (GRCm39)	V226E	probably damaging	Het
Wdr62	T	A	7: 29,953,454 (GRCm39)	I193F	probably damaging	Het
Zfp607b	T	A	7: 27,403,387 (GRCm39)	D614E	probably benign	Het

Other mutations in Ppip5k1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00909:Ppip5k1	APN	2	121,177,839 (GRCm39)	missense	probably damaging	1.00
IGL01154:Ppip5k1	APN	2	121,173,660 (GRCm39)	missense	probably damaging	1.00
IGL01341:Ppip5k1	APN	2	121,173,691 (GRCm39)	nonsense	probably null
IGL01704:Ppip5k1	APN	2	121,142,555 (GRCm39)	missense	possibly damaging	0.74
IGL01949:Ppip5k1	APN	2	121,168,341 (GRCm39)	missense	probably benign
IGL02101:Ppip5k1	APN	2	121,162,089 (GRCm39)	missense	possibly damaging	0.84
IGL02499:Ppip5k1	APN	2	121,162,034 (GRCm39)	splice site	probably null
IGL02701:Ppip5k1	APN	2	121,147,130 (GRCm39)	splice site	probably null
IGL03188:Ppip5k1	APN	2	121,157,327 (GRCm39)	unclassified	probably benign
boca	UTSW	2	121,142,450 (GRCm39)	missense	probably damaging	0.96
lapidus	UTSW	2	121,167,944 (GRCm39)	missense	probably benign	0.29
Roca	UTSW	2	121,167,232 (GRCm39)	missense	probably damaging	0.98
R0363:Ppip5k1	UTSW	2	121,177,836 (GRCm39)	missense	probably damaging	1.00
R1315:Ppip5k1	UTSW	2	121,142,486 (GRCm39)	missense	probably benign	0.13
R1664:Ppip5k1	UTSW	2	121,167,663 (GRCm39)	missense	probably benign	0.02
R1753:Ppip5k1	UTSW	2	121,173,112 (GRCm39)	missense	probably damaging	1.00
R1759:Ppip5k1	UTSW	2	121,181,067 (GRCm39)	missense	probably benign	0.32
R1763:Ppip5k1	UTSW	2	121,179,028 (GRCm39)	missense	probably damaging	1.00
R2033:Ppip5k1	UTSW	2	121,168,108 (GRCm39)	missense	probably damaging	1.00
R2037:Ppip5k1	UTSW	2	121,173,674 (GRCm39)	missense	probably damaging	1.00
R2066:Ppip5k1	UTSW	2	121,173,352 (GRCm39)	unclassified	probably benign
R2103:Ppip5k1	UTSW	2	121,152,134 (GRCm39)	splice site	probably null
R3414:Ppip5k1	UTSW	2	121,158,142 (GRCm39)	missense	probably damaging	0.97
R4022:Ppip5k1	UTSW	2	121,168,108 (GRCm39)	missense	probably damaging	1.00
R4569:Ppip5k1	UTSW	2	121,174,044 (GRCm39)	missense	possibly damaging	0.69
R4783:Ppip5k1	UTSW	2	121,171,329 (GRCm39)	missense	possibly damaging	0.95
R4843:Ppip5k1	UTSW	2	121,157,368 (GRCm39)	missense	probably damaging	1.00
R4981:Ppip5k1	UTSW	2	121,142,871 (GRCm39)	missense	probably damaging	1.00
R5353:Ppip5k1	UTSW	2	121,142,201 (GRCm39)	missense	probably benign	0.00
R5493:Ppip5k1	UTSW	2	121,167,253 (GRCm39)	missense	probably damaging	1.00
R5654:Ppip5k1	UTSW	2	121,147,157 (GRCm39)	missense	probably benign	0.00
R5835:Ppip5k1	UTSW	2	121,168,380 (GRCm39)	missense	probably benign	0.01
R5987:Ppip5k1	UTSW	2	121,180,972 (GRCm39)	nonsense	probably null
R6076:Ppip5k1	UTSW	2	121,167,591 (GRCm39)	missense	probably null	1.00
R6088:Ppip5k1	UTSW	2	121,167,944 (GRCm39)	missense	probably benign	0.29
R6276:Ppip5k1	UTSW	2	121,153,684 (GRCm39)	unclassified	probably benign
R6555:Ppip5k1	UTSW	2	121,168,093 (GRCm39)	missense	probably damaging	0.99
R6878:Ppip5k1	UTSW	2	121,142,417 (GRCm39)	missense	probably benign	0.00
R7075:Ppip5k1	UTSW	2	121,152,231 (GRCm39)	missense	probably damaging	1.00
R7251:Ppip5k1	UTSW	2	121,178,052 (GRCm39)	missense	probably benign	0.05
R7332:Ppip5k1	UTSW	2	121,142,450 (GRCm39)	missense	probably damaging	0.96
R7359:Ppip5k1	UTSW	2	121,171,329 (GRCm39)	missense	possibly damaging	0.95
R7462:Ppip5k1	UTSW	2	121,167,232 (GRCm39)	missense	probably damaging	0.98
R7568:Ppip5k1	UTSW	2	121,168,096 (GRCm39)	missense	probably damaging	1.00
R7654:Ppip5k1	UTSW	2	121,179,040 (GRCm39)	missense	probably damaging	1.00
R7678:Ppip5k1	UTSW	2	121,168,142 (GRCm39)	missense	probably damaging	1.00
R7841:Ppip5k1	UTSW	2	121,173,276 (GRCm39)	missense	probably benign	0.13
R7877:Ppip5k1	UTSW	2	121,147,235 (GRCm39)	missense	probably benign	0.01
R7896:Ppip5k1	UTSW	2	121,177,811 (GRCm39)	missense	probably damaging	1.00
R7901:Ppip5k1	UTSW	2	121,142,390 (GRCm39)	missense	probably damaging	0.99
R7911:Ppip5k1	UTSW	2	121,173,139 (GRCm39)	missense	possibly damaging	0.89
R8167:Ppip5k1	UTSW	2	121,173,282 (GRCm39)	nonsense	probably null
R8179:Ppip5k1	UTSW	2	121,172,095 (GRCm39)	critical splice donor site	probably null
R8766:Ppip5k1	UTSW	2	121,166,919 (GRCm39)	nonsense	probably null
R8981:Ppip5k1	UTSW	2	121,158,121 (GRCm39)	unclassified	probably benign
R9127:Ppip5k1	UTSW	2	121,158,125 (GRCm39)	critical splice donor site	probably null
R9165:Ppip5k1	UTSW	2	121,162,045 (GRCm39)	missense	probably damaging	1.00
R9244:Ppip5k1	UTSW	2	121,164,932 (GRCm39)	missense	probably benign	0.30
R9338:Ppip5k1	UTSW	2	121,153,827 (GRCm39)	missense
R9662:Ppip5k1	UTSW	2	121,174,054 (GRCm39)	missense	probably benign	0.15
X0020:Ppip5k1	UTSW	2	121,172,136 (GRCm39)	missense	probably damaging	0.99
Z1176:Ppip5k1	UTSW	2	121,168,347 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGCTACAACTACCAGGCAGC -3'
(R):5'- ACGCTTGTGTCAGTCAGTG -3'

Sequencing Primer
(F):5'- GCAGCCTGGCCCCAATC -3'
(R):5'- GTGTCAGTCAGTGCCCCTCAC -3'

Posted On

2021-08-31