Mutagenetix > Incidental Mutation

Incidental Mutation 'R5023:Pip5k1c'

391138

Institutional Source

Beutler Lab

Gene Symbol

Pip5k1c

Ensembl Gene

ENSMUSG00000034902

Gene Name

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

Synonyms

PIP5KIgamma

MMRRC Submission

042614-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R5023 (G1)

Quality Score

222

Status

Validated

Chromosome

Chromosomal Location

81292963-81319973 bp(+) (GRCm38)

Type of Mutation

splice site (5 bp from exon)

DNA Base Change (assembly)

G to A at 81310889 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000124155 (fasta)

Gene Model

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

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 benign
Transcript: ENSMUST00000161869

SMART Domains

Protein: ENSMUSP00000124235
Gene: ENSMUSG00000034902

Domain	Start	End	E-Value	Type
low complexity region	7	36	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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.2%

Validation Efficiency

98% (127/129)

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: 124 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933427D14Rik	A	T	11: 72,166,755	H739Q	probably benign	Het
Abca3	C	T	17: 24,374,300	R224C	probably damaging	Het
Abca8b	A	G	11: 109,974,988		probably null	Het
Adam1b	C	T	5: 121,501,159	V608M	probably damaging	Het
Ank2	A	G	3: 126,941,871		probably benign	Het
Ankrd17	A	C	5: 90,282,868	L1019R	probably damaging	Het
Arih1	T	C	9: 59,486,232	N39S	unknown	Het
Best3	G	A	10: 116,988,742	V38I	probably benign	Het
Bicc1	A	G	10: 70,947,883	S393P	possibly damaging	Het
C1d	T	A	11: 17,266,674	N135K	probably benign	Het
Cage1	G	T	13: 38,011,411	S778*	probably null	Het
Capn7	T	A	14: 31,352,426	V262E	probably damaging	Het
Ccdc190	A	G	1: 169,933,087	R95G	probably damaging	Het
Cd163	C	T	6: 124,325,288	T937I	probably damaging	Het
Cdh18	G	A	15: 23,259,666	S194N	probably damaging	Het
Clec4b2	A	T	6: 123,200,956	S77C	probably null	Het
Ctsw	T	A	19: 5,466,049	D237V	probably damaging	Het
Cyp2c68	G	A	19: 39,712,507	T289I	probably benign	Het
Cyp4f39	A	G	17: 32,481,104	Y133C	probably damaging	Het
Dlg5	T	C	14: 24,136,622	E1847G	probably damaging	Het
Dnah7a	C	A	1: 53,647,248	E248*	probably null	Het
Eef2kmt	T	A	16: 5,247,599	D248V	probably damaging	Het
Ewsr1	T	C	11: 5,088,054	T113A	possibly damaging	Het
Fbxo4	A	G	15: 3,977,756		probably null	Het
Fbxo43	A	T	15: 36,162,929	M44K	probably benign	Het
Fchsd1	A	G	18: 37,964,810	I340T	possibly damaging	Het
Fgf5	C	A	5: 98,262,015	A141E	probably damaging	Het
Gfm1	T	C	3: 67,473,544	V664A	probably damaging	Het
Glp2r	T	C	11: 67,741,032	T121A	possibly damaging	Het
Gm10803	A	C	2: 93,564,172	L96F	probably damaging	Het
Gm12169	T	A	11: 46,528,532	D58E	probably damaging	Het
Gm14569	T	C	X: 36,430,817	D1413G	probably benign	Het
Gm15455	T	C	1: 33,837,351		noncoding transcript	Het
Gm1818	G	C	12: 48,555,535		noncoding transcript	Het
Gm4907	G	A	X: 23,907,241	G327E	probably damaging	Het
Gm5155	A	T	7: 17,902,706	D236V	probably damaging	Het
Gm7030	A	G	17: 36,109,415		probably benign	Het
Gnb2	G	A	5: 137,529,940		probably null	Het
Gpc4	G	A	X: 52,074,563	R148C	probably damaging	Het
Gpx5	C	T	13: 21,288,745	V140I	probably damaging	Het
Gtpbp1	A	T	15: 79,719,221	Q637L	possibly damaging	Het
Herc1	A	T	9: 66,470,326	K3458M	possibly damaging	Het
Hhat	A	T	1: 192,727,339	L138Q	probably damaging	Het
Hipk1	G	T	3: 103,777,507	T264N	probably damaging	Het
Hjurp	A	T	1: 88,275,050	Y71N	possibly damaging	Het
Hnf4g	G	T	3: 3,644,587	A144S	probably damaging	Het
Hook3	TAGAG	TAG	8: 26,032,019		probably null	Het
Ifi204	G	A	1: 173,751,740	T513I	possibly damaging	Het
Ino80b	G	T	6: 83,125,042	S26R	probably damaging	Het
Ints9	T	A	14: 64,980,228	L68H	probably damaging	Het
Isx	C	T	8: 74,892,714	T178I	probably benign	Het
Kel	A	G	6: 41,688,111	L255P	probably damaging	Het
Klf11	T	A	12: 24,655,359	S271T	probably benign	Het
Klhl20	A	C	1: 161,109,220		probably null	Het
Lama2	G	A	10: 27,190,504	T1127I	probably damaging	Het
Larp1b	T	A	3: 41,033,985	N81K	possibly damaging	Het
Lsm11	T	C	11: 45,944,839	D25G	probably damaging	Het
Map3k20	T	A	2: 72,402,345		probably benign	Het
Mbd6	C	T	10: 127,286,441	V173I	probably benign	Het
Milr1	A	G	11: 106,766,965	D131G	possibly damaging	Het
Mybpc1	T	G	10: 88,543,774	D635A	probably damaging	Het
Myh7b	G	C	2: 155,632,373	R1669S	possibly damaging	Het
Ndufa7	A	G	17: 33,824,603		probably benign	Het
Ndufs3	C	A	2: 90,898,660	A161S	probably benign	Het
Neo1	T	C	9: 58,990,271	D134G	probably damaging	Het
Nme4	G	A	17: 26,093,668	T129I	probably benign	Het
Npffr2	A	T	5: 89,582,687	T159S	probably benign	Het
Nup153	A	T	13: 46,681,109		probably benign	Het
Olfr139	T	A	11: 74,045,055	D73V	probably damaging	Het
Olfr616	A	C	7: 103,565,171	M36R	possibly damaging	Het
Pate2	T	C	9: 35,686,111		probably benign	Het
Pcca	A	G	14: 122,790,398	N73D	probably damaging	Het
Pkhd1l1	A	T	15: 44,528,191	H1551L	probably benign	Het
Pkhd1l1	G	A	15: 44,582,227	M3768I	probably benign	Het
Ppa2	A	G	3: 133,370,434	M275V	probably benign	Het
Ptpn23	G	A	9: 110,388,556	T744I	probably benign	Het
Ptprv	A	T	1: 135,124,506		noncoding transcript	Het
Rad17	A	T	13: 100,645,063	H75Q	possibly damaging	Het
Rbm44	T	C	1: 91,169,098		probably null	Het
Rbpj	C	T	5: 53,649,415	R201W	probably damaging	Het
Rbpjl	C	A	2: 164,410,289	L215I	probably damaging	Het
Ror1	A	G	4: 100,425,932	E398G	probably benign	Het
Scamp3	T	A	3: 89,182,293		probably benign	Het
Selenot	CATGTATG	CATGTATGTATG	3: 58,588,453		probably null	Het
Siglec15	A	G	18: 78,048,675	C104R	probably damaging	Het
Sis	T	C	3: 72,934,122	I787V	probably benign	Het
Slc17a8	T	C	10: 89,576,560	D521G	probably benign	Het
Slc7a10	T	A	7: 35,197,355	M172K	possibly damaging	Het
Slco4c1	G	A	1: 96,841,228	P303L	probably damaging	Het
Slitrk3	T	C	3: 73,050,648	T264A	probably benign	Het
Smg8	A	C	11: 87,086,137	V206G	probably damaging	Het
Smg9	A	G	7: 24,405,872	K137R	possibly damaging	Het
Srrm2	C	A	17: 23,819,317		probably benign	Het
Sult2a2	T	A	7: 13,734,860	Y84N	possibly damaging	Het
Syngr2	A	T	11: 117,812,510	I34F	probably benign	Het
Tank	G	A	2: 61,578,635		probably benign	Het
Tead4	T	C	6: 128,294,171		probably benign	Het
Tex36	A	T	7: 133,595,290	C33S	probably benign	Het
Timm21	C	A	18: 84,949,414	V112L	possibly damaging	Het
Tmem240	T	A	4: 155,739,674	L92Q	probably damaging	Het
Tmem268	C	G	4: 63,568,540	S100C	probably damaging	Het
Tmod3	G	A	9: 75,511,206	P183S	probably damaging	Het
Trappc10	G	T	10: 78,217,160	F260L	possibly damaging	Het
Trim16	A	T	11: 62,836,812	Y233F	probably benign	Het
Trmt112	T	C	19: 6,910,753	V91A	probably benign	Het
Ttc3	A	G	16: 94,429,359	E450G	probably benign	Het
Ttk	A	G	9: 83,863,541	D647G	probably damaging	Het
Ubash3b	A	G	9: 41,037,459	C187R	possibly damaging	Het
Vmn1r29	T	A	6: 58,308,067	Y257*	probably null	Het
Vmn1r33	T	C	6: 66,612,105	N155S	probably benign	Het
Vmn2r28	T	A	7: 5,486,464	I459L	probably benign	Het
Vps16	A	G	2: 130,439,452	S235G	probably benign	Het
Vwde	T	C	6: 13,192,642	I421V	possibly damaging	Het
Xiap	T	C	X: 42,094,465	F23L	probably benign	Het
Xkr7	A	G	2: 153,054,380	T385A	probably benign	Het
Zbtb11	A	G	16: 56,006,065	Y819C	probably damaging	Het
Zfp112	A	G	7: 24,126,484	T624A	probably damaging	Het
Zfp592	A	G	7: 81,024,347	D353G	probably damaging	Het
Zfp62	T	A	11: 49,215,729	S216T	probably damaging	Het
Zfp677	A	T	17: 21,397,794	H371L	probably damaging	Het
Zfp780b	T	C	7: 27,963,448	K561E	possibly damaging	Het
Zfp936	G	A	7: 43,187,257	D31N	probably damaging	Het
Znfx1	T	C	2: 167,039,826	Y217C	probably damaging	Het
Zpbp	C	T	11: 11,415,248	E200K	probably benign	Het

Other mutations in Pip5k1c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00428:Pip5k1c	APN	10	81305711	missense	probably benign	0.45
IGL02274:Pip5k1c	APN	10	81306384	missense	probably damaging	1.00
IGL02500:Pip5k1c	APN	10	81317321	splice site	probably null
IGL02565:Pip5k1c	APN	10	81317321	splice site	probably null
IGL02577:Pip5k1c	APN	10	81317321	splice site	probably null
IGL02579:Pip5k1c	APN	10	81317321	splice site	probably null
IGL02581:Pip5k1c	APN	10	81317321	splice site	probably null
IGL02604:Pip5k1c	APN	10	81317321	splice site	probably null
IGL02610:Pip5k1c	APN	10	81317321	splice site	probably null
IGL02613:Pip5k1c	APN	10	81317321	splice site	probably null
IGL02616:Pip5k1c	APN	10	81317321	splice site	probably null
IGL02617:Pip5k1c	APN	10	81317321	splice site	probably null
IGL02639:Pip5k1c	APN	10	81317321	splice site	probably null
IGL02641:Pip5k1c	APN	10	81317321	splice site	probably null
IGL02642:Pip5k1c	APN	10	81317321	splice site	probably null
IGL02724:Pip5k1c	APN	10	81313462	missense	probably benign	0.01
IGL02751:Pip5k1c	APN	10	81317321	splice site	probably null
PIT4366001:Pip5k1c	UTSW	10	81309008	missense	probably damaging	0.98
R0257:Pip5k1c	UTSW	10	81315096	missense	possibly damaging	0.86
R1643:Pip5k1c	UTSW	10	81314994	missense	probably damaging	1.00
R1663:Pip5k1c	UTSW	10	81312515	missense	probably damaging	1.00
R1872:Pip5k1c	UTSW	10	81306319	missense	probably damaging	0.99
R2293:Pip5k1c	UTSW	10	81314084	missense	possibly damaging	0.82
R2295:Pip5k1c	UTSW	10	81305186	missense	probably benign	0.40
R2310:Pip5k1c	UTSW	10	81306308	missense	probably damaging	0.96
R2406:Pip5k1c	UTSW	10	81309024	missense	probably damaging	1.00
R4504:Pip5k1c	UTSW	10	81315111	missense	probably damaging	0.98
R4772:Pip5k1c	UTSW	10	81315940	missense	probably benign
R5022:Pip5k1c	UTSW	10	81310889	splice site	probably null
R5033:Pip5k1c	UTSW	10	81305250	missense	probably damaging	0.99
R5057:Pip5k1c	UTSW	10	81310889	splice site	probably null
R5482:Pip5k1c	UTSW	10	81293063	missense	probably damaging	0.98
R6305:Pip5k1c	UTSW	10	81315934	missense	probably benign	0.02
R6511:Pip5k1c	UTSW	10	81310817	missense	probably damaging	1.00
R6544:Pip5k1c	UTSW	10	81308996	missense	probably damaging	1.00
R7512:Pip5k1c	UTSW	10	81315119	critical splice donor site	probably null
R7581:Pip5k1c	UTSW	10	81308960	missense	probably damaging	1.00
R8218:Pip5k1c	UTSW	10	81306416	missense	probably damaging	1.00
R8686:Pip5k1c	UTSW	10	81311993	missense	probably damaging	0.99
R8927:Pip5k1c	UTSW	10	81293072	missense	possibly damaging	0.95
R8928:Pip5k1c	UTSW	10	81293072	missense	possibly damaging	0.95
R9048:Pip5k1c	UTSW	10	81316876	intron	probably benign
R9049:Pip5k1c	UTSW	10	81316876	intron	probably benign
R9100:Pip5k1c	UTSW	10	81309222	missense	probably benign	0.01
R9443:Pip5k1c	UTSW	10	81317350	missense	probably damaging	0.99
R9448:Pip5k1c	UTSW	10	81305811	missense	probably damaging	1.00
R9466:Pip5k1c	UTSW	10	81316876	intron	probably benign
Z1177:Pip5k1c	UTSW	10	81315032	missense	possibly damaging	0.56

Predicted Primers

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

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

Posted On

2016-06-06