Mutagenetix > Incidental Mutation

Incidental Mutation 'R7622:Pi4ka'

589222

Institutional Source

Beutler Lab

Gene Symbol

Pi4ka

Ensembl Gene

ENSMUSG00000041720

Gene Name

phosphatidylinositol 4-kinase alpha

Synonyms

Pik4ca

MMRRC Submission

045717-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7622 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

17098215-17224178 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 17111841 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 1545 (A1545S)

Ref Sequence

ENSEMBL: ENSMUSP00000036162 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036161] [ENSMUST00000232232]

AlphaFold

no structure available at present

Predicted Effect

SMART Domains

Protein: ENSMUSP00000036162
Gene: ENSMUSG00000041720
AA Change: A1545S

Domain	Start	End	E-Value	Type
low complexity region	198	221	N/A	INTRINSIC
low complexity region	243	253	N/A	INTRINSIC
SCOP:d1gw5a_	268	675	2e-3	SMART
low complexity region	895	907	N/A	INTRINSIC
PI3Ka	1483	1671	2.11e-54	SMART
Blast:PI3Kc	1688	1762	2e-39	BLAST
PI3Kc	1788	2041	4.04e-106	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000231683

Predicted Effect

Coding Region Coverage

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

Validation Efficiency

98% (55/56)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a phosphatidylinositol (PI) 4-kinase which catalyzes the first committed step in the biosynthesis of phosphatidylinositol 4,5-bisphosphate. The mammalian PI 4-kinases have been classified into two types, II and III, based on their molecular mass, and modulation by detergent and adenosine. The protein encoded by this gene is a type III enzyme that is not inhibited by adenosine. [provided by RefSeq, Sep 2014]
PHENOTYPE: Mice homozygous for a targeted knock-out or knock-in conditionally activated exhibit premature death associated with degeneration of mucosal cells in the stomach and intestines. Mice homozygous for a knock-out allele exhibit early embryonic lethality. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrd1	G	A	5: 129,216,688 (GRCm39)	D384N	probably benign	Het
Aqp8	T	C	7: 123,065,883 (GRCm39)	F226S	possibly damaging	Het
Arl6ip6	A	G	2: 53,107,339 (GRCm39)	Y207C	probably damaging	Het
Bltp1	C	A	3: 37,002,562 (GRCm39)	C1502*	probably null	Het
Cbfa2t2	A	G	2: 154,342,365 (GRCm39)	E27G	possibly damaging	Het
Cdc42bpb	T	G	12: 111,261,206 (GRCm39)	E201A	unknown	Het
Cfap54	A	C	10: 92,792,806 (GRCm39)	V1769G	unknown	Het
Dmxl2	C	T	9: 54,379,502 (GRCm39)	G7S	probably damaging	Het
Dnah6	G	T	6: 73,101,742 (GRCm39)	F1927L	possibly damaging	Het
Dnajc6	A	G	4: 101,497,688 (GRCm39)	E942G	probably damaging	Het
Fam170a	A	G	18: 50,415,969 (GRCm39)	R324G	probably benign	Het
Gapdhs	G	A	7: 30,438,756 (GRCm39)	T9I	unknown	Het
Gm10320	T	A	13: 98,626,232 (GRCm39)	R51*	probably null	Het
Gm19410	A	T	8: 36,277,501 (GRCm39)	T1776S	possibly damaging	Het
Gm4846	A	T	1: 166,323,441 (GRCm39)	M94K	possibly damaging	Het
Ighv2-5	G	A	12: 113,649,358 (GRCm39)	Q32*	probably null	Het
Klc2	T	C	19: 5,161,660 (GRCm39)	E310G	probably damaging	Het
Krt75	A	G	15: 101,478,707 (GRCm39)	M309T	probably damaging	Het
Lrp11	G	A	10: 7,465,936 (GRCm39)	G41R	unknown	Het
Lrrc52	G	T	1: 167,293,664 (GRCm39)	P207Q	probably benign	Het
Lrrc52	G	T	1: 167,293,665 (GRCm39)	P207T	probably benign	Het
Lrrk2	A	T	15: 91,696,526 (GRCm39)	D2438V	probably damaging	Het
Mycbp	C	T	4: 123,799,094 (GRCm39)	T28M	probably damaging	Het
Myh14	A	G	7: 44,281,846 (GRCm39)	V804A	probably benign	Het
Myo16	A	G	8: 10,426,238 (GRCm39)	I332V	unknown	Het
Ncor1	G	T	11: 62,208,794 (GRCm39)	Q1359K	probably benign	Het
Oog3	T	C	4: 143,884,889 (GRCm39)	D349G	probably benign	Het
Or12e1	A	T	2: 87,022,594 (GRCm39)	I188L	probably benign	Het
Or1j21	A	G	2: 36,683,943 (GRCm39)	K232E	probably benign	Het
Or52b4i	A	G	7: 102,191,830 (GRCm39)	H229R	probably benign	Het
Or8k53	A	G	2: 86,178,006 (GRCm39)	Y35H	possibly damaging	Het
Pate4	A	G	9: 35,519,595 (GRCm39)	S32P	possibly damaging	Het
Pcdhb7	A	C	18: 37,475,514 (GRCm39)	S217R	probably benign	Het
Pde1c	G	A	6: 56,103,910 (GRCm39)	R580C	probably damaging	Het
Pign	G	T	1: 105,575,842 (GRCm39)	T266K	possibly damaging	Het
Pitpnm2	A	G	5: 124,260,090 (GRCm39)	I1134T	probably benign	Het
Ppfia2	G	A	10: 106,666,520 (GRCm39)	V409I	possibly damaging	Het
Prr7	A	G	13: 55,620,609 (GRCm39)	T206A	probably benign	Het
Rnf13	A	T	3: 57,727,955 (GRCm39)	R212*	probably null	Het
Rwdd2b	T	C	16: 87,231,500 (GRCm39)	N218S	probably benign	Het
Serpina3m	A	G	12: 104,355,834 (GRCm39)	D167G	possibly damaging	Het
Slit2	A	T	5: 48,142,547 (GRCm39)	N56Y	probably damaging	Het
Sprr3	G	T	3: 92,364,592 (GRCm39)	T84K	probably damaging	Het
Stab2	A	T	10: 86,709,766 (GRCm39)	H1626Q	possibly damaging	Het
Tex2	C	A	11: 106,437,721 (GRCm39)	D650Y	unknown	Het
Tmprss6	A	G	15: 78,330,926 (GRCm39)	S436P	probably benign	Het
Uba2	A	C	7: 33,864,860 (GRCm39)	F63L	probably damaging	Het
Ubxn2b	C	T	4: 6,214,692 (GRCm39)	S242L	probably damaging	Het
Vmn1r86	T	G	7: 12,836,685 (GRCm39)	I64L	probably benign	Het
Vmn2r67	A	T	7: 84,785,662 (GRCm39)	V781E	probably damaging	Het
Vmn2r80	T	A	10: 79,030,097 (GRCm39)	F641Y	probably damaging	Het
Wdfy4	A	T	14: 32,800,231 (GRCm39)	I1965K		Het
Wdr25	G	A	12: 108,958,819 (GRCm39)	G344S	possibly damaging	Het
Wdr90	G	T	17: 26,073,083 (GRCm39)	F837L	probably benign	Het
Xpo4	A	G	14: 57,834,468 (GRCm39)	V704A	possibly damaging	Het
Zc3h12d	A	G	10: 7,743,033 (GRCm39)	K268E	probably damaging	Het

Other mutations in Pi4ka

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00580:Pi4ka	APN	16	17,126,008 (GRCm39)	missense	probably benign
IGL00984:Pi4ka	APN	16	17,176,796 (GRCm39)	nonsense	probably null
IGL01066:Pi4ka	APN	16	17,166,637 (GRCm39)	splice site	probably benign
IGL01460:Pi4ka	APN	16	17,175,515 (GRCm39)	missense	probably damaging	1.00
IGL01505:Pi4ka	APN	16	17,127,222 (GRCm39)	missense	probably benign	0.22
IGL01518:Pi4ka	APN	16	17,098,599 (GRCm39)	missense	probably benign	0.03
IGL01533:Pi4ka	APN	16	17,126,065 (GRCm39)	missense	probably benign	0.30
IGL01565:Pi4ka	APN	16	17,207,306 (GRCm39)	utr 5 prime	probably benign
IGL01679:Pi4ka	APN	16	17,114,752 (GRCm39)	splice site	probably benign
IGL01685:Pi4ka	APN	16	17,143,066 (GRCm39)	missense	probably benign	0.09
IGL01734:Pi4ka	APN	16	17,115,124 (GRCm39)	missense	probably benign	0.23
IGL01799:Pi4ka	APN	16	17,207,235 (GRCm39)	missense	probably damaging	1.00
IGL01969:Pi4ka	APN	16	17,196,347 (GRCm39)	missense	probably benign	0.15
IGL02092:Pi4ka	APN	16	17,136,360 (GRCm39)	missense	probably benign	0.00
IGL02113:Pi4ka	APN	16	17,191,279 (GRCm39)	missense	probably benign	0.00
IGL02177:Pi4ka	APN	16	17,136,146 (GRCm39)	missense	probably benign	0.09
IGL02400:Pi4ka	APN	16	17,111,748 (GRCm39)	missense	probably damaging	0.98
IGL02426:Pi4ka	APN	16	17,196,296 (GRCm39)	splice site	probably benign
IGL02474:Pi4ka	APN	16	17,143,293 (GRCm39)	missense	probably damaging	1.00
IGL02587:Pi4ka	APN	16	17,135,217 (GRCm39)	missense	probably damaging	1.00
IGL02667:Pi4ka	APN	16	17,113,325 (GRCm39)	missense	possibly damaging	0.82
IGL02698:Pi4ka	APN	16	17,109,032 (GRCm39)	missense	probably damaging	1.00
IGL02815:Pi4ka	APN	16	17,176,753 (GRCm39)	splice site	probably benign
IGL02828:Pi4ka	APN	16	17,098,575 (GRCm39)	intron	probably benign
IGL02939:Pi4ka	APN	16	17,172,074 (GRCm39)	missense	probably damaging	0.97
IGL03123:Pi4ka	APN	16	17,100,539 (GRCm39)	missense	possibly damaging	0.95
IGL03148:Pi4ka	APN	16	17,172,053 (GRCm39)	missense	probably damaging	0.99
arachnoid	UTSW	16	17,103,145 (GRCm39)	unclassified	probably benign
dove_bar	UTSW	16	17,143,916 (GRCm39)	splice site	probably null
mia	UTSW	16	17,194,846 (GRCm39)	missense	possibly damaging	0.89
Pia	UTSW	16	17,098,908 (GRCm39)	missense	probably damaging	1.00
G1patch:Pi4ka	UTSW	16	17,194,846 (GRCm39)	missense	possibly damaging	0.89
IGL03098:Pi4ka	UTSW	16	17,143,891 (GRCm39)	missense	probably damaging	1.00
R0024:Pi4ka	UTSW	16	17,133,399 (GRCm39)	splice site	probably benign
R0054:Pi4ka	UTSW	16	17,142,978 (GRCm39)	missense	probably null	1.00
R0054:Pi4ka	UTSW	16	17,142,978 (GRCm39)	missense	probably null	1.00
R0243:Pi4ka	UTSW	16	17,115,499 (GRCm39)	missense	probably benign	0.44
R0374:Pi4ka	UTSW	16	17,100,796 (GRCm39)	unclassified	probably benign
R0478:Pi4ka	UTSW	16	17,127,175 (GRCm39)	missense	possibly damaging	0.92
R0548:Pi4ka	UTSW	16	17,125,582 (GRCm39)	missense	possibly damaging	0.75
R0626:Pi4ka	UTSW	16	17,111,765 (GRCm39)	missense	probably benign	0.00
R0918:Pi4ka	UTSW	16	17,103,124 (GRCm39)	missense	possibly damaging	0.61
R1082:Pi4ka	UTSW	16	17,207,216 (GRCm39)	missense	probably damaging	1.00
R1384:Pi4ka	UTSW	16	17,115,401 (GRCm39)	splice site	probably benign
R1455:Pi4ka	UTSW	16	17,181,818 (GRCm39)	missense	probably benign	0.02
R1479:Pi4ka	UTSW	16	17,191,264 (GRCm39)	missense	probably benign	0.08
R1490:Pi4ka	UTSW	16	17,204,132 (GRCm39)	missense	probably damaging	1.00
R1565:Pi4ka	UTSW	16	17,099,764 (GRCm39)	missense	probably null
R1594:Pi4ka	UTSW	16	17,191,283 (GRCm39)	splice site	probably benign
R1641:Pi4ka	UTSW	16	17,194,894 (GRCm39)	missense	probably benign	0.00
R1694:Pi4ka	UTSW	16	17,113,240 (GRCm39)	missense	probably damaging	0.99
R1828:Pi4ka	UTSW	16	17,098,614 (GRCm39)	missense	probably benign	0.00
R1864:Pi4ka	UTSW	16	17,185,389 (GRCm39)	nonsense	probably null
R2036:Pi4ka	UTSW	16	17,120,976 (GRCm39)	missense	probably damaging	1.00
R2151:Pi4ka	UTSW	16	17,185,371 (GRCm39)	missense	probably benign	0.44
R2844:Pi4ka	UTSW	16	17,168,657 (GRCm39)	missense	probably damaging	0.97
R2876:Pi4ka	UTSW	16	17,185,414 (GRCm39)	missense	possibly damaging	0.77
R3953:Pi4ka	UTSW	16	17,103,145 (GRCm39)	unclassified	probably benign
R3972:Pi4ka	UTSW	16	17,111,739 (GRCm39)	missense	probably damaging	1.00
R4357:Pi4ka	UTSW	16	17,185,303 (GRCm39)	missense	probably benign	0.00
R4385:Pi4ka	UTSW	16	17,204,129 (GRCm39)	missense	probably benign	0.13
R4427:Pi4ka	UTSW	16	17,098,908 (GRCm39)	missense	probably damaging	1.00
R4436:Pi4ka	UTSW	16	17,100,246 (GRCm39)	missense	probably damaging	1.00
R4677:Pi4ka	UTSW	16	17,100,237 (GRCm39)	missense	probably damaging	1.00
R4683:Pi4ka	UTSW	16	17,114,901 (GRCm39)	missense	possibly damaging	0.73
R4736:Pi4ka	UTSW	16	17,195,039 (GRCm39)	missense	probably benign	0.12
R4804:Pi4ka	UTSW	16	17,126,025 (GRCm39)	missense	possibly damaging	0.75
R4886:Pi4ka	UTSW	16	17,176,225 (GRCm39)	missense
R4893:Pi4ka	UTSW	16	17,194,900 (GRCm39)	missense	probably benign	0.21
R4896:Pi4ka	UTSW	16	17,195,033 (GRCm39)	missense	probably damaging	1.00
R5004:Pi4ka	UTSW	16	17,195,033 (GRCm39)	missense	probably damaging	1.00
R5015:Pi4ka	UTSW	16	17,120,946 (GRCm39)	missense	possibly damaging	0.56
R5062:Pi4ka	UTSW	16	17,127,261 (GRCm39)	missense	probably benign	0.02
R5104:Pi4ka	UTSW	16	17,098,914 (GRCm39)	missense	probably damaging	1.00
R5160:Pi4ka	UTSW	16	17,140,917 (GRCm39)	missense	probably benign	0.01
R5173:Pi4ka	UTSW	16	17,168,770 (GRCm39)	missense	possibly damaging	0.95
R5204:Pi4ka	UTSW	16	17,176,909 (GRCm39)	missense	possibly damaging	0.68
R5307:Pi4ka	UTSW	16	17,140,894 (GRCm39)	missense	probably benign	0.00
R5327:Pi4ka	UTSW	16	17,143,277 (GRCm39)	missense	probably damaging	1.00
R5506:Pi4ka	UTSW	16	17,111,817 (GRCm39)	missense	probably damaging	0.96
R5580:Pi4ka	UTSW	16	17,098,951 (GRCm39)	missense	probably damaging	1.00
R5768:Pi4ka	UTSW	16	17,172,736 (GRCm39)	missense	probably benign	0.29
R5857:Pi4ka	UTSW	16	17,176,848 (GRCm39)	missense	probably benign	0.00
R5951:Pi4ka	UTSW	16	17,121,006 (GRCm39)	missense	probably damaging	1.00
R5953:Pi4ka	UTSW	16	17,099,815 (GRCm39)	missense
R6041:Pi4ka	UTSW	16	17,178,436 (GRCm39)	missense	probably benign
R6223:Pi4ka	UTSW	16	17,175,435 (GRCm39)	nonsense	probably null
R6416:Pi4ka	UTSW	16	17,176,186 (GRCm39)	missense	probably benign	0.22
R6535:Pi4ka	UTSW	16	17,118,900 (GRCm39)	missense	probably damaging	1.00
R6580:Pi4ka	UTSW	16	17,168,694 (GRCm39)	missense	probably damaging	1.00
R6720:Pi4ka	UTSW	16	17,143,916 (GRCm39)	splice site	probably null
R6723:Pi4ka	UTSW	16	17,194,846 (GRCm39)	missense	possibly damaging	0.89
R6725:Pi4ka	UTSW	16	17,194,846 (GRCm39)	missense	possibly damaging	0.89
R6752:Pi4ka	UTSW	16	17,194,846 (GRCm39)	missense	possibly damaging	0.89
R6753:Pi4ka	UTSW	16	17,194,846 (GRCm39)	missense	possibly damaging	0.89
R6755:Pi4ka	UTSW	16	17,194,846 (GRCm39)	missense	possibly damaging	0.89
R6767:Pi4ka	UTSW	16	17,194,846 (GRCm39)	missense	possibly damaging	0.89
R6768:Pi4ka	UTSW	16	17,194,846 (GRCm39)	missense	possibly damaging	0.89
R6782:Pi4ka	UTSW	16	17,194,846 (GRCm39)	missense	possibly damaging	0.89
R6782:Pi4ka	UTSW	16	17,143,852 (GRCm39)	missense	probably damaging	1.00
R6788:Pi4ka	UTSW	16	17,194,846 (GRCm39)	missense	possibly damaging	0.89
R6849:Pi4ka	UTSW	16	17,121,285 (GRCm39)	missense	possibly damaging	0.54
R6958:Pi4ka	UTSW	16	17,143,091 (GRCm39)	missense	probably damaging	1.00
R7014:Pi4ka	UTSW	16	17,114,931 (GRCm39)	unclassified	probably benign
R7055:Pi4ka	UTSW	16	17,134,879 (GRCm39)	utr 3 prime	probably benign
R7317:Pi4ka	UTSW	16	17,223,496 (GRCm39)	critical splice donor site	probably null
R7533:Pi4ka	UTSW	16	17,115,525 (GRCm39)	missense
R7552:Pi4ka	UTSW	16	17,109,080 (GRCm39)	missense
R7581:Pi4ka	UTSW	16	17,118,924 (GRCm39)	missense
R7717:Pi4ka	UTSW	16	17,194,787 (GRCm39)	missense
R8048:Pi4ka	UTSW	16	17,120,991 (GRCm39)	missense
R8052:Pi4ka	UTSW	16	17,174,030 (GRCm39)	missense
R8079:Pi4ka	UTSW	16	17,120,924 (GRCm39)	missense
R8123:Pi4ka	UTSW	16	17,098,956 (GRCm39)	missense
R8211:Pi4ka	UTSW	16	17,100,769 (GRCm39)	missense
R8310:Pi4ka	UTSW	16	17,171,912 (GRCm39)	critical splice donor site	probably null
R8322:Pi4ka	UTSW	16	17,175,437 (GRCm39)	missense
R8509:Pi4ka	UTSW	16	17,172,008 (GRCm39)	missense
R8735:Pi4ka	UTSW	16	17,136,234 (GRCm39)	missense
R8912:Pi4ka	UTSW	16	17,207,230 (GRCm39)	missense
R8917:Pi4ka	UTSW	16	17,130,310 (GRCm39)	missense
R8921:Pi4ka	UTSW	16	17,125,604 (GRCm39)	missense
R8941:Pi4ka	UTSW	16	17,114,807 (GRCm39)	unclassified	probably benign
R9002:Pi4ka	UTSW	16	17,117,317 (GRCm39)	missense
R9203:Pi4ka	UTSW	16	17,100,165 (GRCm39)	missense
R9222:Pi4ka	UTSW	16	17,176,225 (GRCm39)	missense
R9230:Pi4ka	UTSW	16	17,099,788 (GRCm39)	missense
R9262:Pi4ka	UTSW	16	17,120,859 (GRCm39)	missense
R9338:Pi4ka	UTSW	16	17,135,227 (GRCm39)	missense
R9374:Pi4ka	UTSW	16	17,125,574 (GRCm39)	missense
R9436:Pi4ka	UTSW	16	17,125,670 (GRCm39)	missense
R9499:Pi4ka	UTSW	16	17,125,574 (GRCm39)	missense
R9501:Pi4ka	UTSW	16	17,204,156 (GRCm39)	missense
R9551:Pi4ka	UTSW	16	17,125,574 (GRCm39)	missense
R9705:Pi4ka	UTSW	16	17,099,815 (GRCm39)	missense
RF007:Pi4ka	UTSW	16	17,115,097 (GRCm39)	missense
U24488:Pi4ka	UTSW	16	17,143,040 (GRCm39)	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- TATACCCTAGGCTAGCTCACAG -3'
(R):5'- TGTAACATGTCAGAAGCACTTTCC -3'

Sequencing Primer
(F):5'- AGCTCACAGGGCTTTAGACTC -3'
(R):5'- CCTTGTAGACTCAGGTTCACAGAG -3'

Posted On

2019-10-24