Mutagenetix > Incidental Mutation

Incidental Mutation 'R6041:Pi4ka'

483580

Institutional Source

Beutler Lab

Gene Symbol

Pi4ka

Ensembl Gene

ENSMUSG00000041720

Gene Name

phosphatidylinositol 4-kinase alpha

Synonyms

Pik4ca

MMRRC Submission

044209-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6041 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

17098215-17224178 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 17178436 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 307 (Y307H)

Ref Sequence

ENSEMBL: ENSMUSP00000156049 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036161] [ENSMUST00000154364] [ENSMUST00000232232]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000036161
AA Change: Y307H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000036162
Gene: ENSMUSG00000041720
AA Change: Y307H

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

noncoding transcript
Transcript: ENSMUST00000128938

Predicted Effect

probably benign
Transcript: ENSMUST00000154364
AA Change: Y307H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000122550
Gene: ENSMUSG00000041720
AA Change: Y307H

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

noncoding transcript
Transcript: ENSMUST00000231419

Predicted Effect

probably benign
Transcript: ENSMUST00000232232
AA Change: Y307H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Meta Mutation Damage Score

0.0578

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 93.1%

Validation Efficiency

100% (62/62)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	T	A	17: 24,595,354 (GRCm39)	M297K	probably damaging	Het
Ace	A	C	11: 105,866,134 (GRCm39)	H34P	probably benign	Het
Agbl2	A	T	2: 90,638,371 (GRCm39)	N652I	probably benign	Het
Auh	T	A	13: 53,073,122 (GRCm39)	L86F	possibly damaging	Het
Bmp10	A	G	6: 87,411,302 (GRCm39)	K365R	probably damaging	Het
Cacna1d	A	T	14: 29,764,314 (GRCm39)	S2086T	probably damaging	Het
Calcoco1	C	A	15: 102,626,374 (GRCm39)	R105L	possibly damaging	Het
Casc3	T	G	11: 98,719,385 (GRCm39)	V509G	probably damaging	Het
Clmn	A	G	12: 104,748,131 (GRCm39)	V472A	probably benign	Het
Cyp2b19	A	T	7: 26,458,852 (GRCm39)	S142C	probably damaging	Het
Derl3	T	C	10: 75,729,335 (GRCm39)	L26P	probably damaging	Het
Dgkh	C	T	14: 78,825,067 (GRCm39)	A863T	probably damaging	Het
Dhx30	C	T	9: 109,913,666 (GRCm39)	R1127Q	probably benign	Het
Dmxl2	A	G	9: 54,324,037 (GRCm39)	S1116P	probably damaging	Het
Dnah7b	T	C	1: 46,328,805 (GRCm39)	V3179A	probably benign	Het
Dnajb11	A	T	16: 22,687,471 (GRCm39)	N156I	probably benign	Het
Dpep1	A	T	8: 123,927,394 (GRCm39)	E316V	probably damaging	Het
Entrep1	A	T	19: 23,962,193 (GRCm39)	M270K	probably benign	Het
F2rl2	T	A	13: 95,837,617 (GRCm39)	F221I	probably benign	Het
Flg2	T	A	3: 93,127,668 (GRCm39)	D173E	probably benign	Het
Fshr	A	T	17: 89,293,414 (GRCm39)	D421E	probably damaging	Het
Gfm2	T	A	13: 97,309,131 (GRCm39)	V612E	probably benign	Het
Gm17655	T	G	5: 110,195,439 (GRCm39)	K114N	possibly damaging	Het
Gm45844	C	A	7: 7,281,183 (GRCm39)		probably benign	Het
Gpr142	A	T	11: 114,697,203 (GRCm39)	I250F	probably damaging	Het
Hexa	A	G	9: 59,470,519 (GRCm39)	Q447R	probably damaging	Het
Leng8	T	C	7: 4,148,568 (GRCm39)	L780P	probably benign	Het
Lrrk1	T	C	7: 65,911,881 (GRCm39)	D1893G	probably benign	Het
Macf1	T	A	4: 123,407,641 (GRCm39)	I139F	probably damaging	Het
Megf10	A	T	18: 57,313,621 (GRCm39)	T22S	probably benign	Het
Mup-ps1	C	A	4: 60,088,549 (GRCm39)		noncoding transcript	Het
Myh13	A	T	11: 67,255,556 (GRCm39)	E1642V	probably damaging	Het
Myof	A	G	19: 37,913,068 (GRCm39)	Y1462H	probably damaging	Het
Nipbl	T	A	15: 8,353,748 (GRCm39)	D1765V	probably damaging	Het
Npy5r	A	T	8: 67,134,675 (GRCm39)	N39K	possibly damaging	Het
Or5m13b	G	A	2: 85,753,735 (GRCm39)	G41D	probably damaging	Het
Pax6	A	G	2: 105,514,247 (GRCm39)	I29V	probably damaging	Het
Pmf1	A	C	3: 88,303,358 (GRCm39)	Y68D	probably damaging	Het
Psen2	C	A	1: 180,073,292 (GRCm39)	E10*	probably null	Het
Ptprs	T	A	17: 56,726,080 (GRCm39)	M991L	probably benign	Het
R3hdm4	A	G	10: 79,749,495 (GRCm39)	V20A	possibly damaging	Het
Rad17	T	C	13: 100,754,274 (GRCm39)	N649D	probably benign	Het
Rad9b	A	T	5: 122,489,415 (GRCm39)	C38S	probably damaging	Het
Rapgef2	T	C	3: 78,976,469 (GRCm39)	M1296V	probably benign	Het
Rbp3	T	C	14: 33,678,439 (GRCm39)	S796P	probably damaging	Het
Rpl10-ps3	A	G	9: 50,256,082 (GRCm39)	S54P	probably benign	Het
Sclt1	T	A	3: 41,581,612 (GRCm39)	I688F	probably damaging	Het
Scn10a	A	G	9: 119,438,535 (GRCm39)	I1778T	probably damaging	Het
Scrib	C	T	15: 75,939,021 (GRCm39)	R159Q	possibly damaging	Het
Senp1	C	T	15: 97,956,097 (GRCm39)	E441K	probably damaging	Het
Sipa1l1	T	A	12: 82,389,024 (GRCm39)	F417I	probably damaging	Het
Slco1a7	A	C	6: 141,684,764 (GRCm39)	D230E	probably benign	Het
Smcr8	A	G	11: 60,670,394 (GRCm39)	D514G	probably damaging	Het
Tbc1d23	T	G	16: 56,993,513 (GRCm39)	D551A	probably benign	Het
Tet1	G	T	10: 62,649,152 (GRCm39)	T149N	probably damaging	Het
Them4	A	T	3: 94,224,806 (GRCm39)	D61V	possibly damaging	Het
Trak1	A	T	9: 121,289,478 (GRCm39)	I597F	probably damaging	Het
Trank1	A	G	9: 111,206,864 (GRCm39)	I1666V	possibly damaging	Het
Vipr2	A	C	12: 116,106,604 (GRCm39)	N378T	probably damaging	Het
Zfp804b	T	C	5: 6,821,231 (GRCm39)	R575G	probably benign	Het
Zfp941	A	T	7: 140,392,158 (GRCm39)	C400*	probably null	Het
Zswim5	A	C	4: 116,819,818 (GRCm39)	S408R	probably benign	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
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
R7622:Pi4ka	UTSW	16	17,111,841 (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'- GCCAGTATTAACATCAGGGACAG -3'
(R):5'- TGCCTTTTACTGAAGACGATGAAG -3'

Sequencing Primer
(F):5'- CATCATTCCAGGGAGCTAGGTTC -3'
(R):5'- GACGATGAAGAGGGTAATTAAGATG -3'

Posted On

2017-07-14