Mutagenetix > Incidental Mutation

Incidental Mutation 'R5022:Pip5k1c'

389267

Institutional Source

Beutler Lab

Gene Symbol

Pip5k1c

Ensembl Gene

ENSMUSG00000034902

Gene Name

phosphatidylinositol-4-phosphate 5-kinase, type 1 gamma

Synonyms

PIP5KIgamma

MMRRC Submission

042613-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5022 (G1)

Quality Score

155

Status

Validated

Chromosome

Chromosomal Location

81128797-81155807 bp(+) (GRCm39)

Type of Mutation

splice site (5 bp from exon)

DNA Base Change (assembly)

G to A at 81146723 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000124155 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045469] [ENSMUST00000105327] [ENSMUST00000160291] [ENSMUST00000161719] [ENSMUST00000161719] [ENSMUST00000161854] [ENSMUST00000163075] [ENSMUST00000161869]

AlphaFold

O70161

Predicted Effect

probably null
Transcript: ENSMUST00000045469

SMART Domains

Protein: ENSMUSP00000038225
Gene: ENSMUSG00000034902

Domain	Start	End	E-Value	Type
low complexity region	8	32	N/A	INTRINSIC
low complexity region	69	78	N/A	INTRINSIC
PIPKc	103	444	2.72e-164	SMART
low complexity region	518	534	N/A	INTRINSIC
low complexity region	575	591	N/A	INTRINSIC
low complexity region	601	628	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000105327

SMART Domains

Protein: ENSMUSP00000100964
Gene: ENSMUSG00000034902

Domain	Start	End	E-Value	Type
low complexity region	8	32	N/A	INTRINSIC
low complexity region	69	78	N/A	INTRINSIC
PIPKc	103	444	2.72e-164	SMART
low complexity region	518	534	N/A	INTRINSIC
low complexity region	575	591	N/A	INTRINSIC
low complexity region	601	628	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159895

Predicted Effect

probably benign
Transcript: ENSMUST00000160291

SMART Domains

Protein: ENSMUSP00000125645
Gene: ENSMUSG00000034902

Domain	Start	End	E-Value	Type
low complexity region	8	32	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000161586

SMART Domains

Protein: ENSMUSP00000124612
Gene: ENSMUSG00000034902

Domain	Start	End	E-Value	Type
low complexity region	28	44	N/A	INTRINSIC
low complexity region	54	81	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000161719

SMART Domains

Protein: ENSMUSP00000125461
Gene: ENSMUSG00000034902

Domain	Start	End	E-Value	Type
Pfam:PIP5K	1	133	1.4e-28	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000161719

SMART Domains

Protein: ENSMUSP00000125461
Gene: ENSMUSG00000034902

Domain	Start	End	E-Value	Type
Pfam:PIP5K	1	133	1.4e-28	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000161854

SMART Domains

Protein: ENSMUSP00000124004
Gene: ENSMUSG00000034902

Domain	Start	End	E-Value	Type
low complexity region	8	32	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000163075

SMART Domains

Protein: ENSMUSP00000124155
Gene: ENSMUSG00000034902

Domain	Start	End	E-Value	Type
low complexity region	8	32	N/A	INTRINSIC
low complexity region	69	78	N/A	INTRINSIC
PIPKc	103	444	2.72e-164	SMART
low complexity region	518	534	N/A	INTRINSIC
low complexity region	575	591	N/A	INTRINSIC
low complexity region	601	628	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000161869

SMART Domains

Protein: ENSMUSP00000124235
Gene: ENSMUSG00000034902

Domain	Start	End	E-Value	Type
low complexity region	7	36	N/A	INTRINSIC

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.4%
20x: 92.6%

Validation Efficiency

99% (110/111)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This locus encodes a type I phosphatidylinositol 4-phosphate 5-kinase. The encoded protein catalyzes phosphorylation of phosphatidylinositol 4-phosphate, producing phosphatidylinositol 4,5-bisphosphate. This enzyme is found at synapses and has been found to play roles in endocytosis and cell migration. Mutations at this locus have been associated with lethal congenital contractural syndrome. Alternatively spliced transcript variants encoding different isoforms have been described.[provided by RefSeq, Sep 2010]
PHENOTYPE: Mutations in this locus cause variable phenotypes. One allele shows embryonic lethality, abnormal cardiovascular and neuronal development and impaired integrity of the megakaryocyte membrane cytoskeleton. Another allele exhibits neonatal lethality, synaptic transmission and plasticity defects. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 105 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	TCGACTGC	T	4: 53,041,570 (GRCm39)		probably null	Het
Abca15	T	C	7: 119,945,319 (GRCm39)	I465T	probably damaging	Het
Abca3	C	T	17: 24,593,274 (GRCm39)	R224C	probably damaging	Het
Abcb4	T	A	5: 8,959,054 (GRCm39)		probably null	Het
Acan	T	C	7: 78,742,556 (GRCm39)		probably null	Het
Aebp2	G	A	6: 140,583,456 (GRCm39)	R109Q	possibly damaging	Het
Agfg2	A	T	5: 137,658,422 (GRCm39)		probably null	Het
Ankib1	T	A	5: 3,784,011 (GRCm39)	I322F	possibly damaging	Het
AW551984	A	T	9: 39,509,261 (GRCm39)	N293K	probably benign	Het
BC028528	T	A	3: 95,796,135 (GRCm39)		probably benign	Het
Bicc1	A	G	10: 70,783,713 (GRCm39)	S393P	possibly damaging	Het
Birc6	A	G	17: 74,999,327 (GRCm39)	Y4656C	probably damaging	Het
Bmp3	A	G	5: 99,020,683 (GRCm39)	R369G	probably damaging	Het
C1d	T	A	11: 17,216,674 (GRCm39)	N135K	probably benign	Het
Ccdc148	G	A	2: 58,717,644 (GRCm39)	A453V	probably damaging	Het
Cd163	C	T	6: 124,302,247 (GRCm39)	T937I	probably damaging	Het
Celf2	C	T	2: 6,612,658 (GRCm39)		probably benign	Het
Chga	T	C	12: 102,529,096 (GRCm39)	W358R	probably damaging	Het
Clec4b2	A	T	6: 123,177,915 (GRCm39)	S77C	probably null	Het
Crim1	T	C	17: 78,587,558 (GRCm39)	V221A	possibly damaging	Het
D630003M21Rik	A	T	2: 158,059,553 (GRCm39)	S116T	probably damaging	Het
Dlg5	T	C	14: 24,186,690 (GRCm39)	E1847G	probably damaging	Het
Dmxl1	T	A	18: 50,028,194 (GRCm39)	I2206K	probably damaging	Het
Dusp7	T	A	9: 106,250,940 (GRCm39)	L355Q	probably damaging	Het
Eif1ad15	T	C	12: 88,288,071 (GRCm39)	I61V	probably benign	Het
Eif1ad16	A	T	12: 87,985,481 (GRCm39)	S21T	unknown	Het
Exd2	T	A	12: 80,543,564 (GRCm39)	N582K	probably damaging	Het
Fbln1	G	A	15: 85,121,827 (GRCm39)	S316N	probably damaging	Het
Fchsd1	A	G	18: 38,097,863 (GRCm39)	I340T	possibly damaging	Het
Fn1	T	C	1: 71,663,338 (GRCm39)	Y1050C	probably damaging	Het
Fsip2	A	G	2: 82,809,773 (GRCm39)	I2031V	probably benign	Het
Gm10803	A	C	2: 93,394,517 (GRCm39)	L96F	probably damaging	Het
Gm14569	T	C	X: 35,694,470 (GRCm39)	D1413G	probably benign	Het
Gm15455	T	C	1: 33,876,432 (GRCm39)		noncoding transcript	Het
Gm1818	G	C	12: 48,602,318 (GRCm39)		noncoding transcript	Het
Gm5420	A	T	10: 21,567,626 (GRCm39)		noncoding transcript	Het
Gm7104	A	T	12: 88,252,529 (GRCm39)		noncoding transcript	Het
Gp2	A	G	7: 119,048,337 (GRCm39)	I427T	probably damaging	Het
Gpc4	G	A	X: 51,163,440 (GRCm39)	R148C	probably damaging	Het
Gpr142	A	C	11: 114,695,214 (GRCm39)	S60R	probably benign	Het
Helz2	T	C	2: 180,882,362 (GRCm39)	R144G	probably benign	Het
Herc1	A	T	9: 66,377,608 (GRCm39)	K3458M	possibly damaging	Het
Hnf4g	G	T	3: 3,709,647 (GRCm39)	A144S	probably damaging	Het
Irs2	A	C	8: 11,037,012 (GRCm39)	*1322G	probably null	Het
Keg1	A	G	19: 12,696,521 (GRCm39)	N288S	probably damaging	Het
Kif19a	G	A	11: 114,658,053 (GRCm39)	M37I	probably benign	Het
Klhl1	G	A	14: 96,374,142 (GRCm39)	P635S	probably benign	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Lsm11	T	C	11: 45,835,666 (GRCm39)	D25G	probably damaging	Het
Manea	A	T	4: 26,336,630 (GRCm39)	Y215*	probably null	Het
Mdga2	C	T	12: 66,517,534 (GRCm39)	C100Y	possibly damaging	Het
Mthfd1	T	A	12: 76,348,102 (GRCm39)	M582K	probably damaging	Het
Mthfd1	T	G	12: 76,341,148 (GRCm39)	V480G	probably damaging	Het
Myh7b	G	C	2: 155,474,293 (GRCm39)	R1669S	possibly damaging	Het
Nanos1	T	C	19: 60,745,418 (GRCm39)	Y239H	probably damaging	Het
Nat8	G	A	6: 85,807,839 (GRCm39)	T98I	possibly damaging	Het
Ndufs3	C	A	2: 90,729,004 (GRCm39)	A161S	probably benign	Het
Nexmif	A	T	X: 103,130,956 (GRCm39)	N320K	probably damaging	Het
Or10h1	T	C	17: 33,418,751 (GRCm39)	F239S	probably damaging	Het
Or2m12	A	T	16: 19,104,809 (GRCm39)	V228D	probably damaging	Het
Or2r3	A	T	6: 42,448,221 (GRCm39)	V297E	possibly damaging	Het
Or4c111	A	G	2: 88,844,387 (GRCm39)	V7A	probably damaging	Het
Or4c122	C	T	2: 89,079,761 (GRCm39)	M92I	probably benign	Het
Or4k15	T	C	14: 50,364,469 (GRCm39)	V145A	possibly damaging	Het
Or52e2	G	A	7: 102,804,942 (GRCm39)	P4L	probably benign	Het
Or6c69c	T	C	10: 129,910,462 (GRCm39)	L61P	probably damaging	Het
Pcdhb14	T	A	18: 37,583,223 (GRCm39)	N776K	probably benign	Het
Plk4	G	A	3: 40,756,512 (GRCm39)		probably null	Het
Prmt8	A	G	6: 127,688,126 (GRCm39)	Y231H	possibly damaging	Het
Prpf4b	T	C	13: 35,067,582 (GRCm39)		probably benign	Het
Ptpn21	G	A	12: 98,645,666 (GRCm39)	R1091C	probably damaging	Het
Pwwp2b	C	T	7: 138,835,494 (GRCm39)	P312S	possibly damaging	Het
Rad21	A	T	15: 51,830,102 (GRCm39)	I503K	probably benign	Het
Rai14	A	G	15: 10,574,592 (GRCm39)	S789P	probably damaging	Het
Rbm26	C	T	14: 105,381,688 (GRCm39)	D486N	probably damaging	Het
Rnf20	A	G	4: 49,642,016 (GRCm39)		probably benign	Het
Ros1	A	G	10: 52,000,171 (GRCm39)	V1118A	possibly damaging	Het
Sema3d	A	C	5: 12,634,923 (GRCm39)	Y663S	probably damaging	Het
Serpina6	A	G	12: 103,617,971 (GRCm39)	W281R	probably damaging	Het
Slc8a3	A	G	12: 81,246,332 (GRCm39)	V900A	probably damaging	Het
Spats2l	G	T	1: 57,918,715 (GRCm39)	V30L	probably damaging	Het
Spg21	A	G	9: 65,383,231 (GRCm39)	D139G	probably damaging	Het
Sun3	T	C	11: 8,988,314 (GRCm39)	T3A	probably damaging	Het
Tep1	A	G	14: 51,066,456 (GRCm39)	Y2335H	probably benign	Het
Tesl1	G	A	X: 23,773,480 (GRCm39)	G327E	probably damaging	Het
Timd5	T	A	11: 46,419,359 (GRCm39)	D58E	probably damaging	Het
Timm21	C	A	18: 84,967,539 (GRCm39)	V112L	possibly damaging	Het
Tlk1	A	T	2: 70,572,409 (GRCm39)	N386K	probably benign	Het
Trappc10	G	T	10: 78,052,994 (GRCm39)	F260L	possibly damaging	Het
Trgv1	T	A	13: 19,524,401 (GRCm39)	S42T	probably benign	Het
Trmt112	T	C	19: 6,888,121 (GRCm39)	V91A	probably benign	Het
Ucp2	A	T	7: 100,147,579 (GRCm39)	N186I	possibly damaging	Het
Vmn1r119	A	G	7: 20,746,245 (GRCm39)	S46P	probably benign	Het
Vmn2r101	A	T	17: 19,831,649 (GRCm39)		probably null	Het
Vmn2r105	T	A	17: 20,428,676 (GRCm39)	H800L	probably damaging	Het
Vmn2r69	T	C	7: 85,060,367 (GRCm39)	M406V	possibly damaging	Het
Vmn2r84	A	G	10: 130,222,417 (GRCm39)	L601P	probably damaging	Het
Vps16	A	G	2: 130,281,372 (GRCm39)	S235G	probably benign	Het
Wap	T	C	11: 6,587,339 (GRCm39)		probably benign	Het
Wdr11	A	G	7: 129,226,435 (GRCm39)	I744M	probably benign	Het
Xiap	T	C	X: 41,183,342 (GRCm39)	F23L	probably benign	Het
Xkr7	A	G	2: 152,896,300 (GRCm39)	T385A	probably benign	Het
Zfp524	A	T	7: 5,021,416 (GRCm39)	I315F	probably benign	Het
Zfp62	T	A	11: 49,106,556 (GRCm39)	S216T	probably damaging	Het
Znfx1	T	C	2: 166,881,746 (GRCm39)	Y217C	probably damaging	Het

Other mutations in Pip5k1c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00428:Pip5k1c	APN	10	81,141,545 (GRCm39)	missense	probably benign	0.45
IGL02274:Pip5k1c	APN	10	81,142,218 (GRCm39)	missense	probably damaging	1.00
IGL02500:Pip5k1c	APN	10	81,153,155 (GRCm39)	splice site	probably null
IGL02565:Pip5k1c	APN	10	81,153,155 (GRCm39)	splice site	probably null
IGL02577:Pip5k1c	APN	10	81,153,155 (GRCm39)	splice site	probably null
IGL02579:Pip5k1c	APN	10	81,153,155 (GRCm39)	splice site	probably null
IGL02581:Pip5k1c	APN	10	81,153,155 (GRCm39)	splice site	probably null
IGL02604:Pip5k1c	APN	10	81,153,155 (GRCm39)	splice site	probably null
IGL02610:Pip5k1c	APN	10	81,153,155 (GRCm39)	splice site	probably null
IGL02613:Pip5k1c	APN	10	81,153,155 (GRCm39)	splice site	probably null
IGL02616:Pip5k1c	APN	10	81,153,155 (GRCm39)	splice site	probably null
IGL02617:Pip5k1c	APN	10	81,153,155 (GRCm39)	splice site	probably null
IGL02639:Pip5k1c	APN	10	81,153,155 (GRCm39)	splice site	probably null
IGL02641:Pip5k1c	APN	10	81,153,155 (GRCm39)	splice site	probably null
IGL02642:Pip5k1c	APN	10	81,153,155 (GRCm39)	splice site	probably null
IGL02724:Pip5k1c	APN	10	81,149,296 (GRCm39)	missense	probably benign	0.01
IGL02751:Pip5k1c	APN	10	81,153,155 (GRCm39)	splice site	probably null
PIT4366001:Pip5k1c	UTSW	10	81,144,842 (GRCm39)	missense	probably damaging	0.98
R0257:Pip5k1c	UTSW	10	81,150,930 (GRCm39)	missense	possibly damaging	0.86
R1643:Pip5k1c	UTSW	10	81,150,828 (GRCm39)	missense	probably damaging	1.00
R1663:Pip5k1c	UTSW	10	81,148,349 (GRCm39)	missense	probably damaging	1.00
R1872:Pip5k1c	UTSW	10	81,142,153 (GRCm39)	missense	probably damaging	0.99
R2293:Pip5k1c	UTSW	10	81,149,918 (GRCm39)	missense	possibly damaging	0.82
R2295:Pip5k1c	UTSW	10	81,141,020 (GRCm39)	missense	probably benign	0.40
R2310:Pip5k1c	UTSW	10	81,142,142 (GRCm39)	missense	probably damaging	0.96
R2406:Pip5k1c	UTSW	10	81,144,858 (GRCm39)	missense	probably damaging	1.00
R4504:Pip5k1c	UTSW	10	81,150,945 (GRCm39)	missense	probably damaging	0.98
R4772:Pip5k1c	UTSW	10	81,151,774 (GRCm39)	missense	probably benign
R5023:Pip5k1c	UTSW	10	81,146,723 (GRCm39)	splice site	probably null
R5033:Pip5k1c	UTSW	10	81,141,084 (GRCm39)	missense	probably damaging	0.99
R5057:Pip5k1c	UTSW	10	81,146,723 (GRCm39)	splice site	probably null
R5482:Pip5k1c	UTSW	10	81,128,897 (GRCm39)	missense	probably damaging	0.98
R6305:Pip5k1c	UTSW	10	81,151,768 (GRCm39)	missense	probably benign	0.02
R6511:Pip5k1c	UTSW	10	81,146,651 (GRCm39)	missense	probably damaging	1.00
R6544:Pip5k1c	UTSW	10	81,144,830 (GRCm39)	missense	probably damaging	1.00
R7512:Pip5k1c	UTSW	10	81,150,953 (GRCm39)	critical splice donor site	probably null
R7581:Pip5k1c	UTSW	10	81,144,794 (GRCm39)	missense	probably damaging	1.00
R8218:Pip5k1c	UTSW	10	81,142,250 (GRCm39)	missense	probably damaging	1.00
R8686:Pip5k1c	UTSW	10	81,147,827 (GRCm39)	missense	probably damaging	0.99
R8927:Pip5k1c	UTSW	10	81,128,906 (GRCm39)	missense	possibly damaging	0.95
R8928:Pip5k1c	UTSW	10	81,128,906 (GRCm39)	missense	possibly damaging	0.95
R9048:Pip5k1c	UTSW	10	81,152,710 (GRCm39)	intron	probably benign
R9049:Pip5k1c	UTSW	10	81,152,710 (GRCm39)	intron	probably benign
R9100:Pip5k1c	UTSW	10	81,145,056 (GRCm39)	missense	probably benign	0.01
R9443:Pip5k1c	UTSW	10	81,153,184 (GRCm39)	missense	probably damaging	0.99
R9448:Pip5k1c	UTSW	10	81,141,645 (GRCm39)	missense	probably damaging	1.00
R9466:Pip5k1c	UTSW	10	81,152,710 (GRCm39)	intron	probably benign
R9775:Pip5k1c	UTSW	10	81,147,853 (GRCm39)	missense	probably damaging	0.98
R9780:Pip5k1c	UTSW	10	81,141,030 (GRCm39)	missense	probably benign	0.01
Z1177:Pip5k1c	UTSW	10	81,150,866 (GRCm39)	missense	possibly damaging	0.56

Predicted Primers

PCR Primer
(F):5'- AGCTTCAAGATAATGGACTACAGCC -3'
(R):5'- GTCACTGCAAAGCCACTGTC -3'

Sequencing Primer
(F):5'- CAACATCGATCAGCAGGA -3'
(R):5'- GTCCCTCTTTTTGTTACACAGGG -3'

Posted On

2016-06-06