Mutagenetix > Incidental Mutation

Incidental Mutation 'R6535:Pi4ka'

520361

Institutional Source

Beutler Lab

Gene Symbol

Pi4ka

Ensembl Gene

ENSMUSG00000041720

Gene Name

phosphatidylinositol 4-kinase alpha

Synonyms

Pik4ca

MMRRC Submission

044661-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6535 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

17098215-17224178 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 17118900 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 125 (V125M)

Ref Sequence

ENSEMBL: ENSMUSP00000121728 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036161] [ENSMUST00000142876] [ENSMUST00000154364] [ENSMUST00000232232]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000036161
AA Change: V1315M

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000036162
Gene: ENSMUSG00000041720
AA Change: V1315M

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 damaging
Transcript: ENSMUST00000142876
AA Change: V125M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000121728
Gene: ENSMUSG00000041720
AA Change: V125M

Domain	Start	End	E-Value	Type
Blast:PI3Kc	1	78	7e-46	BLAST

Predicted Effect

probably damaging
Transcript: ENSMUST00000154364
AA Change: V1315M

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000122550
Gene: ENSMUSG00000041720
AA Change: V1315M

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: ENSMUST00000155928

SMART Domains

Protein: ENSMUSP00000123156
Gene: ENSMUSG00000041720

Domain	Start	End	E-Value	Type
PI3Kc	57	207	1.3e-1	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000231683
AA Change: V135M

Predicted Effect

unknown
Transcript: ENSMUST00000232232
AA Change: V1315M

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

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: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrf5	G	A	17: 43,750,920 (GRCm39)	S495N	probably benign	Het
Ank3	G	T	10: 69,713,684 (GRCm39)	A448S	probably damaging	Het
Apobec3	A	G	15: 79,781,950 (GRCm39)	*47W	probably null	Het
B4gat1	T	C	19: 5,089,558 (GRCm39)	V185A	possibly damaging	Het
Cers1	T	A	8: 70,782,804 (GRCm39)	V58D	probably damaging	Het
Chrm1	T	A	19: 8,656,437 (GRCm39)	Y381N	possibly damaging	Het
Cpne6	A	T	14: 55,751,122 (GRCm39)	E177V	probably benign	Het
Cpt1a	T	A	19: 3,415,788 (GRCm39)		probably null	Het
Ctsq	A	T	13: 61,183,140 (GRCm39)	I334N	probably damaging	Het
Dennd6b	A	G	15: 89,070,570 (GRCm39)	L400P	probably damaging	Het
Fam135b	A	G	15: 71,493,924 (GRCm39)	S2P	probably damaging	Het
Hip1	T	C	5: 135,457,351 (GRCm39)		probably null	Het
Lama2	A	C	10: 26,980,127 (GRCm39)	L1896R	probably damaging	Het
Ly6g6g	T	C	15: 74,644,074 (GRCm39)	S81G	probably damaging	Het
Macf1	A	T	4: 123,365,728 (GRCm39)	V3011D	possibly damaging	Het
Macrod1	A	G	19: 7,034,515 (GRCm39)	D86G	probably damaging	Het
Mettl8	G	T	2: 70,803,733 (GRCm39)	H185N	possibly damaging	Het
Mipol1	A	C	12: 57,352,886 (GRCm39)	Q75P	possibly damaging	Het
Pole	A	C	5: 110,472,673 (GRCm39)	Y1618S	probably damaging	Het
Prrc2a	A	G	17: 35,381,241 (GRCm39)	V21A	unknown	Het
Rhbdl1	A	T	17: 26,054,799 (GRCm39)	Y111*	probably null	Het
Sbk3	A	C	7: 4,972,840 (GRCm39)	M110R	possibly damaging	Het
Scn8a	G	A	15: 100,857,588 (GRCm39)		probably benign	Het
Tcstv2c	T	C	13: 120,616,190 (GRCm39)	S10P	probably damaging	Het
Tshz3	T	C	7: 36,468,214 (GRCm39)	S68P	probably damaging	Het
Vmn1r88	C	T	7: 12,912,112 (GRCm39)	T156I	probably benign	Het
Wrn	T	C	8: 33,826,131 (GRCm39)	H177R	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
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'- TGGCTCTGAGTACATTCCTGAG -3'
(R):5'- CAGCTGAATGGTGATATGCTGG -3'

Sequencing Primer
(F):5'- TTCCTGAGGATATTACAGTGTAGTC -3'
(R):5'- AGCTGAATGGTGATATGCTGGTAATG -3'

Posted On

2018-06-06