Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02616:Pip5k1c'

300690

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pip5k1c

Ensembl Gene

ENSMUSG00000034902

Gene Name

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

Synonyms

PIP5KIgamma

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02616

Quality Score

Status

Chromosome

Chromosomal Location

81292963-81319973 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

C to A at 81317321 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000100964 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045469] [ENSMUST00000050867] [ENSMUST00000105327] [ENSMUST00000161719] [ENSMUST00000161854] [ENSMUST00000161869] [ENSMUST00000163075]

AlphaFold

O70161

PDB Structure

Structural basis for phosphatidylinositol phosphate kinase type I-gamma binding to talin at focal adhesions [X-RAY DIFFRACTION]
Solution structure of the talin F3 domain in complex with a chimeric beta3 integrin-PIP kinase peptide [SOLUTION NMR]
Solution structure of the talin F3 domain in complex with a chimeric beta3 integrin-PIP kinase peptide- minimized average structure [SOLUTION NMR]

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 benign
Transcript: ENSMUST00000050867

SMART Domains

Protein: ENSMUSP00000059533
Gene: ENSMUSG00000034889

Domain	Start	End	E-Value	Type
low complexity region	9	101	N/A	INTRINSIC
low complexity region	128	149	N/A	INTRINSIC
coiled coil region	157	184	N/A	INTRINSIC
low complexity region	186	206	N/A	INTRINSIC
low complexity region	246	253	N/A	INTRINSIC
Pfam:Cactin_mid	292	479	2.1e-68	PFAM
low complexity region	507	524	N/A	INTRINSIC
low complexity region	531	558	N/A	INTRINSIC
low complexity region	596	607	N/A	INTRINSIC
CactinC_cactus	648	772	2.13e-87	SMART

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: ENSMUST00000159636

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159895

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 benign
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 benign
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

Coding Region Coverage

Validation Efficiency

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700003E16Rik	A	G	6: 83,161,662	R190G	probably benign	Het
4931406B18Rik	T	C	7: 43,501,013		probably null	Het
Adcy4	T	C	14: 55,783,514		probably null	Het
Ahnak	C	A	19: 9,005,627	P1425Q	probably benign	Het
Arih1	A	G	9: 59,412,476	V285A	probably benign	Het
Atp13a1	T	C	8: 69,805,313	V906A	probably benign	Het
Atp2a2	A	T	5: 122,461,684	I548N	probably benign	Het
C2cd5	A	T	6: 143,035,111	S643T	probably benign	Het
Calcoco1	T	C	15: 102,715,850	D210G	probably damaging	Het
Cep128	A	G	12: 91,296,258	I289T	probably benign	Het
Ces1c	C	T	8: 93,106,615	M407I	probably benign	Het
Cntln	T	G	4: 85,115,452		probably null	Het
Cypt12	T	A	3: 17,948,728	H88Q	possibly damaging	Het
Ddc	T	A	11: 11,880,645		probably benign	Het
Dnajb12	T	C	10: 59,892,863		probably null	Het
Gata2	A	G	6: 88,205,480	T477A	possibly damaging	Het
Gckr	A	G	5: 31,327,075	D619G	probably benign	Het
Gm5699	A	T	1: 30,998,351		noncoding transcript	Het
Gm8257	T	A	14: 44,655,226	S106C	probably damaging	Het
Gpr15	A	C	16: 58,718,204	L174R	probably damaging	Het
Hnrnph3	T	A	10: 63,019,485	H7L	possibly damaging	Het
Ide	A	T	19: 37,298,056	I518N	unknown	Het
Igdcc4	G	A	9: 65,133,078	G957D	probably damaging	Het
Igsf10	G	A	3: 59,318,606	P2549S	probably benign	Het
Kcnj9	A	G	1: 172,325,964	S198P	probably damaging	Het
Lclat1	T	C	17: 73,169,533	I45T	probably benign	Het
Met	T	C	6: 17,553,347	L1044S	probably damaging	Het
Msh4	T	C	3: 153,857,523	T739A	probably benign	Het
Ncam1	T	C	9: 49,508,688	E776G	probably benign	Het
Ndufv3	G	A	17: 31,527,669	V178M	probably damaging	Het
Nlgn1	T	C	3: 25,434,245	Y613C	probably damaging	Het
Nmbr	T	C	10: 14,760,687		probably benign	Het
Orc1	T	A	4: 108,595,479	W184R	probably benign	Het
Pde6b	T	C	5: 108,431,541	S850P	probably benign	Het
Pnpt1	T	C	11: 29,135,505		probably benign	Het
Pomt2	T	A	12: 87,124,862	H378L	probably damaging	Het
Sh3gl3	C	T	7: 82,285,018		probably benign	Het
Thsd7a	A	T	6: 12,408,985	N679K	probably damaging	Het
Tns2	T	C	15: 102,111,415	M572T	probably benign	Het
Twf2	C	T	9: 106,212,756	Q103*	probably null	Het
Uncx	T	C	5: 139,546,768	I196T	possibly damaging	Het
Urgcp	A	G	11: 5,717,400	S313P	probably damaging	Het
Vmn1r222	A	T	13: 23,232,141	C301S	possibly damaging	Het
Vmn2r111	T	A	17: 22,571,050	Q325L	possibly damaging	Het
Vps4a	C	T	8: 107,042,277	R236W	probably damaging	Het
Wdr19	T	A	5: 65,223,581	H344Q	probably damaging	Het
Wiz	A	T	17: 32,359,469	D356E	probably damaging	Het
Zc3h10	T	C	10: 128,544,882	E202G	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
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
R5023: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
R9775:Pip5k1c	UTSW	10	81312019	missense	probably damaging	0.98
R9780:Pip5k1c	UTSW	10	81305196	missense	probably benign	0.01
Z1177:Pip5k1c	UTSW	10	81315032	missense	possibly damaging	0.56

Posted On

2015-04-16