Mutagenetix > Incidental Mutation

Incidental Mutation 'R8928:Pip5k1c'

679690

Institutional Source

Beutler Lab

Gene Symbol

Pip5k1c

Ensembl Gene

ENSMUSG00000034902

Gene Name

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

Synonyms

PIP5KIgamma

MMRRC Submission

068772-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8928 (G1)

Quality Score

169.009

Status

Not validated

Chromosome

Chromosomal Location

81128797-81155807 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 81128906 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 5 (V5E)

Ref Sequence

ENSEMBL: ENSMUSP00000038225 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045469] [ENSMUST00000045744] [ENSMUST00000105327] [ENSMUST00000160291] [ENSMUST00000161854] [ENSMUST00000163075] [ENSMUST00000219479]

AlphaFold

O70161

Predicted Effect

possibly damaging
Transcript: ENSMUST00000045469
AA Change: V5E

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000038225
Gene: ENSMUSG00000034902
AA Change: V5E

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: ENSMUST00000045744

SMART Domains

Protein: ENSMUSP00000036438
Gene: ENSMUSG00000034917

Domain	Start	End	E-Value	Type
PDZ	20	93	2.81e-18	SMART
low complexity region	119	162	N/A	INTRINSIC
PDZ	196	264	2.71e-11	SMART
low complexity region	297	305	N/A	INTRINSIC
PDZ	378	451	4.97e-19	SMART
SH3	466	539	9.96e-2	SMART
low complexity region	548	559	N/A	INTRINSIC
GuKc	570	756	6.9e-46	SMART
Blast:GuKc	767	898	9e-27	BLAST

Predicted Effect

possibly damaging
Transcript: ENSMUST00000105327
AA Change: V5E

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000100964
Gene: ENSMUSG00000034902
AA Change: V5E

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

unknown
Transcript: ENSMUST00000160291
AA Change: V5E

SMART Domains

Protein: ENSMUSP00000125645
Gene: ENSMUSG00000034902
AA Change: V5E

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000161854
AA Change: V5E

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000124004
Gene: ENSMUSG00000034902
AA Change: V5E

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000163075
AA Change: V5E

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000124155
Gene: ENSMUSG00000034902
AA Change: V5E

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: ENSMUST00000219479

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630089N07Rik	A	T	16: 97,867,367 (GRCm39)	H198Q	probably damaging	Het
Abcb9	T	C	5: 124,221,706 (GRCm39)	T223A	probably benign	Het
Actc1	T	A	2: 113,880,881 (GRCm39)	K115*	probably null	Het
Angptl2	G	A	2: 33,132,316 (GRCm39)	D308N	probably benign	Het
Arl4d	A	C	11: 101,557,892 (GRCm39)	Q139H	possibly damaging	Het
Aspm	T	A	1: 139,418,125 (GRCm39)	C2951*	probably null	Het
Atp23	A	T	10: 126,723,362 (GRCm39)	*247R	probably null	Het
B3gnt7	T	A	1: 86,232,839 (GRCm39)	S28R	probably benign	Het
Blm	GCCTCCTCCTCCTCCTCCTCCTCCTCCTCC	GCCTCCTCCTCCTCCTCCTCCTCCTCC	7: 80,162,652 (GRCm39)		probably benign	Het
Bmp7	C	T	2: 172,721,211 (GRCm39)	R288H	probably damaging	Het
Bsdc1	G	T	4: 129,355,439 (GRCm39)		probably benign	Het
Ccdc146	T	C	5: 21,538,060 (GRCm39)	E88G	probably damaging	Het
Ccdc73	C	A	2: 104,822,542 (GRCm39)	D2E		Het
Cdc5l	C	A	17: 45,721,839 (GRCm39)	R477L		Het
Cdh22	T	A	2: 164,965,504 (GRCm39)	H529L	possibly damaging	Het
Chchd3	T	A	6: 32,780,951 (GRCm39)	E178D	probably benign	Het
Ciz1	A	T	2: 32,257,512 (GRCm39)	R186*	probably null	Het
Copa	T	A	1: 171,931,737 (GRCm39)	H329Q	probably null	Het
Dcaf7	A	G	11: 105,942,752 (GRCm39)	D233G	probably damaging	Het
Dclk2	G	T	3: 86,739,048 (GRCm39)	P317Q	probably damaging	Het
Dsc3	A	T	18: 20,107,234 (GRCm39)	H462Q	probably benign	Het
Fn1	T	C	1: 71,638,535 (GRCm39)	N1998S	probably benign	Het
Fpr2	T	C	17: 18,113,724 (GRCm39)	L240S	possibly damaging	Het
Fzd9	A	T	5: 135,278,589 (GRCm39)	M432K	probably damaging	Het
Gm5862	T	A	5: 26,226,678 (GRCm39)	I75F	probably damaging	Het
Gpr45	T	A	1: 43,072,314 (GRCm39)	V319D	probably damaging	Het
H4c11	T	C	13: 21,919,525 (GRCm39)	V87A	possibly damaging	Het
Igfn1	T	A	1: 135,905,984 (GRCm39)	R275W	probably damaging	Het
Inafm1	G	A	7: 16,006,980 (GRCm39)	A79V	unknown	Het
Itfg1	C	T	8: 86,567,420 (GRCm39)		probably benign	Het
Klhl35	T	G	7: 99,120,221 (GRCm39)	I366S	probably damaging	Het
Lysmd1	A	T	3: 95,045,831 (GRCm39)	I223F	probably damaging	Het
Mrps30	A	G	13: 118,523,205 (GRCm39)	L189P	probably damaging	Het
Ms4a4d	A	C	19: 11,533,574 (GRCm39)	T152P	probably benign	Het
Mtcl1	A	T	17: 66,755,628 (GRCm39)	I238K	probably benign	Het
Musk	T	C	4: 58,301,638 (GRCm39)	I132T	probably damaging	Het
Myh2	A	T	11: 67,079,509 (GRCm39)	M989L	probably benign	Het
Myh8	G	A	11: 67,174,081 (GRCm39)	R172H	probably benign	Het
Nt5c1a	C	T	4: 123,102,281 (GRCm39)	T69M	possibly damaging	Het
Nuak2	T	A	1: 132,255,916 (GRCm39)	D196E	probably damaging	Het
Or52h7	A	T	7: 104,214,229 (GRCm39)	H267L	probably damaging	Het
Or5ap2	A	T	2: 85,679,918 (GRCm39)	I41F	possibly damaging	Het
Or5t7	T	C	2: 86,507,630 (GRCm39)	T16A	probably benign	Het
Or8k53	T	C	2: 86,178,090 (GRCm39)	T7A	possibly damaging	Het
Palb2	A	T	7: 121,723,821 (GRCm39)	C643S	probably damaging	Het
Pde5a	T	A	3: 122,633,249 (GRCm39)	I706N	probably damaging	Het
Pdlim4	T	C	11: 53,950,790 (GRCm39)	R100G	probably benign	Het
Pira1	A	C	7: 3,742,358 (GRCm39)	N56K	probably benign	Het
Plekhm1	A	G	11: 103,268,039 (GRCm39)	V644A	probably benign	Het
Plk2	T	G	13: 110,535,750 (GRCm39)	V524G	probably damaging	Het
Ppl	T	A	16: 4,905,474 (GRCm39)	N1607I	probably benign	Het
Prag1	T	G	8: 36,614,360 (GRCm39)	V1304G	probably damaging	Het
Prex1	C	T	2: 166,426,995 (GRCm39)	V1077M	probably damaging	Het
Prmt6	T	C	3: 110,158,248 (GRCm39)	S14G	probably benign	Het
Psrc1	T	G	3: 108,293,973 (GRCm39)	S263R	probably damaging	Het
Qrfprl	C	A	6: 65,358,597 (GRCm39)	S107*	probably null	Het
Rbp7	A	T	4: 149,537,958 (GRCm39)	L36*	probably null	Het
Rgs12	G	T	5: 35,123,633 (GRCm39)	W472L	possibly damaging	Het
Rrp8	C	A	7: 105,384,073 (GRCm39)	C143F	possibly damaging	Het
Sart1	T	C	19: 5,438,529 (GRCm39)	S43G	probably benign	Het
Setx	A	G	2: 29,016,971 (GRCm39)	T25A	possibly damaging	Het
Skint5	G	A	4: 113,341,099 (GRCm39)	T1414I	probably benign	Het
Sorbs2	T	A	8: 46,248,952 (GRCm39)	S734R	probably damaging	Het
Spata31g1	A	T	4: 42,972,251 (GRCm39)	Y528F	probably benign	Het
Spon1	T	C	7: 113,629,592 (GRCm39)		probably null	Het
Sptbn1	C	T	11: 30,088,962 (GRCm39)	V767I	probably damaging	Het
Srf	T	C	17: 46,860,095 (GRCm39)	I477V	probably damaging	Het
Tanc2	A	G	11: 105,701,331 (GRCm39)	Y282C	probably damaging	Het
Tbc1d23	A	G	16: 56,992,152 (GRCm39)	Y603H	probably damaging	Het
Tdpoz6	T	A	3: 93,599,950 (GRCm39)	T140S	probably benign	Het
Tfap4	T	C	16: 4,369,218 (GRCm39)	D134G	probably damaging	Het
Tmem200c	A	G	17: 69,148,733 (GRCm39)	T439A	probably benign	Het
Tmem63b	A	T	17: 45,975,908 (GRCm39)	M515K	probably damaging	Het
Tnc	A	T	4: 63,925,595 (GRCm39)	N980K	probably damaging	Het
Ttc23l	T	A	15: 10,530,720 (GRCm39)	L297F	probably damaging	Het
Vinac1	A	G	2: 128,882,789 (GRCm39)	S76P		Het
Vmn1r170	A	G	7: 23,305,814 (GRCm39)	N72S	possibly damaging	Het
Vmn2r8	T	C	5: 108,950,131 (GRCm39)	M239V		Het
Vopp1	A	G	6: 57,731,578 (GRCm39)	F138L	probably damaging	Het
Vps41	T	A	13: 18,929,501 (GRCm39)	F79I	probably benign	Het
Zfp317	T	C	9: 19,552,521 (GRCm39)	M1T	probably null	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
R5022:Pip5k1c	UTSW	10	81,146,723 (GRCm39)	splice site	probably null
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
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'- GAACACGTTTCTTCCTGCAC -3'
(R):5'- GCTTGAGAATGGATCAGCCC -3'

Sequencing Primer
(F):5'- AAGCCCAGTCCTTATATCCAATTGG -3'
(R):5'- AATGGATCAGCCCGGCAG -3'

Posted On

2021-08-02