Mutagenetix > Incidental Mutation

Incidental Mutation 'U24488:Pi4ka'

509904

Institutional Source

Beutler Lab

Gene Symbol

Pi4ka

Ensembl Gene

ENSMUSG00000041720

Gene Name

phosphatidylinositol 4-kinase alpha

Synonyms

Pik4ca

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

U24488 (G0')

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

17098215-17224178 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 17143040 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 824 (I824T)

Ref Sequence

ENSEMBL: ENSMUSP00000122550 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036161] [ENSMUST00000139768] [ENSMUST00000154364] [ENSMUST00000231651] [ENSMUST00000232232]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000036161
AA Change: I824T

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000036162
Gene: ENSMUSG00000041720
AA Change: I824T

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: ENSMUST00000132300

Predicted Effect

possibly damaging
Transcript: ENSMUST00000139768
AA Change: I41T

PolyPhen 2 Score 0.622 (Sensitivity: 0.87; Specificity: 0.91)

Predicted Effect

probably damaging
Transcript: ENSMUST00000154364
AA Change: I824T

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000122550
Gene: ENSMUSG00000041720
AA Change: I824T

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

possibly damaging
Transcript: ENSMUST00000231651
AA Change: I41T

PolyPhen 2 Score 0.622 (Sensitivity: 0.87; Specificity: 0.91)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231961

Predicted Effect

unknown
Transcript: ENSMUST00000232232
AA Change: I824T

Predicted Effect

unknown
Transcript: ENSMUST00000232404
AA Change: I146T

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.3%
20x: 98.0%

Validation Efficiency

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
Ankrd36	A	G	11: 5,580,772 (GRCm39)	Y922C	probably damaging	Het
Arhgef40	A	G	14: 52,235,673 (GRCm39)	T1185A	probably benign	Het
Atf7ip2	A	G	16: 10,022,537 (GRCm39)	N72S	probably damaging	Het
Carmil3	A	G	14: 55,734,636 (GRCm39)	D455G	probably benign	Het
Ccdc171	A	T	4: 83,579,954 (GRCm39)	E567V	probably damaging	Het
Chmp1b	T	A	18: 67,338,945 (GRCm39)	L125Q	probably damaging	Het
Cnr1	T	A	4: 33,944,927 (GRCm39)	N438K	probably benign	Het
Cplane1	G	T	15: 8,211,694 (GRCm39)	G345C	probably damaging	Het
Csmd3	G	A	15: 47,573,795 (GRCm39)	T2091M	probably damaging	Het
Cyp4a29	A	T	4: 115,108,204 (GRCm39)	H342L	possibly damaging	Het
Dnah10	G	A	5: 124,891,044 (GRCm39)	D3212N	probably damaging	Het
Dnah2	G	A	11: 69,374,648 (GRCm39)	T1447I	probably damaging	Het
F11	A	G	8: 45,695,349 (GRCm39)	S540P	probably benign	Het
Fcrl6	T	A	1: 172,426,437 (GRCm39)	H120L	probably damaging	Het
Frmd6	T	C	12: 70,940,653 (GRCm39)	S433P	probably damaging	Het
Fundc1	G	T	X: 17,434,342 (GRCm39)	A64E	probably damaging	Het
Garin2	A	T	12: 78,761,811 (GRCm39)	K158N	probably damaging	Het
Grid1	A	G	14: 35,302,534 (GRCm39)	E933G	probably benign	Het
Haus5	C	T	7: 30,358,401 (GRCm39)	W298*	probably null	Het
Hoxb3	C	A	11: 96,235,456 (GRCm39)	Q128K	probably benign	Het
Il6st	C	T	13: 112,631,168 (GRCm39)	T369M	possibly damaging	Het
Itk	A	C	11: 46,228,971 (GRCm39)	M403R	probably damaging	Het
Katnip	A	T	7: 125,369,853 (GRCm39)	D147V	probably damaging	Het
Kif2c	T	C	4: 117,039,639 (GRCm39)	Q17R	probably benign	Het
Kifap3	T	C	1: 163,610,604 (GRCm39)	I28T	possibly damaging	Het
Kit	A	T	5: 75,783,674 (GRCm39)	R384*	probably null	Het
Ksr1	T	A	11: 78,938,267 (GRCm39)	I42F	probably damaging	Het
Lhcgr	T	A	17: 89,079,513 (GRCm39)		probably null	Het
Lrrc36	C	T	8: 106,176,384 (GRCm39)	H253Y	probably benign	Het
Mad1l1	T	A	5: 140,300,840 (GRCm39)	N19Y	probably damaging	Het
Marf1	A	T	16: 13,950,230 (GRCm39)	L1022*	probably null	Het
Mical3	T	G	6: 120,978,457 (GRCm39)	Q225P	possibly damaging	Het
Minar1	C	A	9: 89,485,100 (GRCm39)	G99V	probably damaging	Het
Myt1l	T	A	12: 29,876,895 (GRCm39)	M182K	unknown	Het
Nepro	A	G	16: 44,554,949 (GRCm39)	T342A	probably benign	Het
Nlrp5	A	T	7: 23,117,653 (GRCm39)	D459V	possibly damaging	Het
Nrcam	C	T	12: 44,584,042 (GRCm39)	P39S	probably damaging	Het
Or2ag1b	A	T	7: 106,288,296 (GRCm39)	I214N	probably damaging	Het
Ostm1	A	G	10: 42,555,227 (GRCm39)	D83G	possibly damaging	Het
Otoa	A	T	7: 120,717,763 (GRCm39)		probably null	Het
Plec	C	T	15: 76,061,930 (GRCm39)	R2534H	probably benign	Het
Plin2	A	G	4: 86,580,314 (GRCm39)	V60A	probably damaging	Het
Rps6ka4	A	G	19: 6,809,724 (GRCm39)	L367P	probably damaging	Het
Senp7	A	G	16: 56,005,182 (GRCm39)	N912D	probably damaging	Het
Slc25a21	G	T	12: 56,785,282 (GRCm39)	N198K	possibly damaging	Het
Slc4a10	A	G	2: 61,877,002 (GRCm39)	D5G	probably benign	Het
Tex16	T	C	X: 111,028,815 (GRCm39)	V438A	probably benign	Het
Tmem37	T	C	1: 119,995,684 (GRCm39)	Y131C	probably benign	Het
Top2a	A	C	11: 98,913,252 (GRCm39)	M60R	probably damaging	Het
Ush2a	C	T	1: 188,162,963 (GRCm39)	T1015I	probably damaging	Het
Vmn1r172	A	T	7: 23,359,171 (GRCm39)	I19F	probably benign	Het
Vmn1r230	A	C	17: 21,067,014 (GRCm39)	I68L	probably benign	Het
Vmn2r45	A	C	7: 8,475,361 (GRCm39)	C556G	probably damaging	Het
Vmn2r54	A	G	7: 12,349,356 (GRCm39)	I742T	possibly damaging	Het
Vps13c	A	G	9: 67,813,198 (GRCm39)	K960E	probably benign	Het
Wdcp	T	A	12: 4,900,405 (GRCm39)	V87E	probably damaging	Het
Wiz	C	T	17: 32,606,649 (GRCm39)	E29K	probably damaging	Het
Wnk3	C	T	X: 149,992,456 (GRCm39)	T298I	probably damaging	Het
Yif1b	A	C	7: 28,943,594 (GRCm39)	Q56P	probably benign	Het
Zbtb25	A	G	12: 76,396,014 (GRCm39)	W403R	probably benign	Het
Zcrb1	A	T	15: 93,285,515 (GRCm39)	S155R	probably damaging	Het
Zmym4	A	T	4: 126,819,453 (GRCm39)	I150K	possibly 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
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

Predicted Primers

PCR Primer
(F):5'- GCCACCAACAGTTGTTTGC -3'
(R):5'- AAACGATACGGTCACCCCTG -3'

Sequencing Primer
(F):5'- CCAACAGTTGTTTGCTTTCTAAATGC -3'
(R):5'- ATACGGTCACCCCTGTACGG -3'

Posted On

2018-04-02