Mutagenetix > Incidental Mutation

Incidental Mutation 'R7717:Pi4ka'

594998

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 #

R7717 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

17280351-17406314 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 17376923 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 204 (S204P)

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: S204P

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610010F05Rik	A	C	11: 23,606,757 (GRCm38)	C408G	probably benign	Het
Adgrf5	T	C	17: 43,450,753 (GRCm38)	L1113P	probably damaging	Het
Aldh3b3	T	C	19: 3,963,970 (GRCm38)	L57P	probably damaging	Het
Asb15	A	G	6: 24,559,252 (GRCm38)	D132G	probably benign	Het
Cep290	C	T	10: 100,492,681 (GRCm38)	R111W	probably benign	Het
Cfap44	A	G	16: 44,429,935 (GRCm38)	D792G	probably damaging	Het
Col20a1	C	T	2: 181,007,615 (GRCm38)	R1029W	probably damaging	Het
Csf3r	A	G	4: 126,037,610 (GRCm38)	Y462C	probably damaging	Het
Cthrc1	T	C	15: 39,077,116 (GRCm38)	V38A	probably benign	Het
Cxcr2	T	C	1: 74,158,839 (GRCm38)	V164A	probably benign	Het
D230025D16Rik	C	A	8: 105,251,604 (GRCm38)	Q397K	probably benign	Het
Efr3b	A	G	12: 3,984,574 (GRCm38)	S199P	probably damaging	Het
Elavl4	A	G	4: 110,206,466 (GRCm38)	C342R	probably damaging	Het
Gemin5	A	T	11: 58,151,530 (GRCm38)		probably null	Het
Gm14190	A	T	11: 99,690,650 (GRCm38)	C31S	unknown	Het
Golt1b	T	A	6: 142,394,043 (GRCm38)	V78D	probably damaging	Het
Gsdmc3	T	A	15: 63,869,212 (GRCm38)	D29V	probably damaging	Het
Itih1	T	A	14: 30,931,185 (GRCm38)	D766V	probably damaging	Het
Larp1b	C	T	3: 40,972,444 (GRCm38)	S251F	probably damaging	Het
Lrp8	A	G	4: 107,834,743 (GRCm38)	T115A	probably benign	Het
Lrrc37a	A	G	11: 103,504,300 (GRCm38)	S100P	probably benign	Het
Lss	T	C	10: 76,545,452 (GRCm38)	V424A	possibly damaging	Het
Ltbp1	T	C	17: 75,290,078 (GRCm38)	V568A	possibly damaging	Het
Myo10	A	T	15: 25,731,970 (GRCm38)	T311S	probably benign	Het
Nsd3	T	C	8: 25,682,562 (GRCm38)	V779A	probably benign	Het
Olfr1335	A	T	4: 118,808,933 (GRCm38)	S310R	probably damaging	Het
Olfr138	C	A	17: 38,275,580 (GRCm38)	Q270K	probably damaging	Het
Olfr1444	A	T	19: 12,861,795 (GRCm38)	I7F	probably benign	Het
Olfr624	T	C	7: 103,670,945 (GRCm38)	T29A	probably benign	Het
Olfr698	A	G	7: 106,752,636 (GRCm38)	W251R	possibly damaging	Het
Olfr748	T	A	14: 50,710,762 (GRCm38)	L144Q	probably damaging	Het
Pak1	T	A	7: 97,886,348 (GRCm38)	D215E	probably benign	Het
Pde7b	A	G	10: 20,407,191 (GRCm38)	F355L	probably benign	Het
Pirb	C	T	7: 3,717,801 (GRCm38)	G233R	not run	Het
Pirb	T	C	7: 3,717,783 (GRCm38)	K239E	not run	Het
Pnp	G	A	14: 50,951,003 (GRCm38)	M211I	probably benign	Het
Pot1a	A	T	6: 25,758,823 (GRCm38)	L319Q	probably benign	Het
Rspry1	G	T	8: 94,623,122 (GRCm38)	C46F	probably damaging	Het
Sec11c	C	T	18: 65,812,712 (GRCm38)	T82M	possibly damaging	Het
Secisbp2	T	C	13: 51,673,098 (GRCm38)	V414A	probably benign	Het
Tenm2	A	G	11: 36,864,935 (GRCm38)	F79L	probably damaging	Het
Vmn2r2	A	G	3: 64,134,598 (GRCm38)	V232A	possibly damaging	Het
Zbtb17	T	C	4: 141,466,083 (GRCm38)	S593P	probably damaging	Het
Zfp143	T	G	7: 110,086,220 (GRCm38)	C419G	possibly damaging	Het
Zfp804b	T	C	5: 6,771,293 (GRCm38)	N590S	possibly damaging	Het

Other mutations in Pi4ka

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00580:Pi4ka	APN	16	17,308,144 (GRCm38)	missense	probably benign
IGL00984:Pi4ka	APN	16	17,358,932 (GRCm38)	nonsense	probably null
IGL01066:Pi4ka	APN	16	17,348,773 (GRCm38)	splice site	probably benign
IGL01460:Pi4ka	APN	16	17,357,651 (GRCm38)	missense	probably damaging	1.00
IGL01505:Pi4ka	APN	16	17,309,358 (GRCm38)	missense	probably benign	0.22
IGL01518:Pi4ka	APN	16	17,280,735 (GRCm38)	missense	probably benign	0.03
IGL01533:Pi4ka	APN	16	17,308,201 (GRCm38)	missense	probably benign	0.30
IGL01565:Pi4ka	APN	16	17,389,442 (GRCm38)	utr 5 prime	probably benign
IGL01679:Pi4ka	APN	16	17,296,888 (GRCm38)	splice site	probably benign
IGL01685:Pi4ka	APN	16	17,325,202 (GRCm38)	missense	probably benign	0.09
IGL01734:Pi4ka	APN	16	17,297,260 (GRCm38)	missense	probably benign	0.23
IGL01799:Pi4ka	APN	16	17,389,371 (GRCm38)	missense	probably damaging	1.00
IGL01969:Pi4ka	APN	16	17,378,483 (GRCm38)	missense	probably benign	0.15
IGL02092:Pi4ka	APN	16	17,318,496 (GRCm38)	missense	probably benign	0.00
IGL02113:Pi4ka	APN	16	17,373,415 (GRCm38)	missense	probably benign	0.00
IGL02177:Pi4ka	APN	16	17,318,282 (GRCm38)	missense	probably benign	0.09
IGL02400:Pi4ka	APN	16	17,293,884 (GRCm38)	missense	probably damaging	0.98
IGL02426:Pi4ka	APN	16	17,378,432 (GRCm38)	splice site	probably benign
IGL02474:Pi4ka	APN	16	17,325,429 (GRCm38)	missense	probably damaging	1.00
IGL02587:Pi4ka	APN	16	17,317,353 (GRCm38)	missense	probably damaging	1.00
IGL02667:Pi4ka	APN	16	17,295,461 (GRCm38)	missense	possibly damaging	0.82
IGL02698:Pi4ka	APN	16	17,291,168 (GRCm38)	missense	probably damaging	1.00
IGL02815:Pi4ka	APN	16	17,358,889 (GRCm38)	splice site	probably benign
IGL02828:Pi4ka	APN	16	17,280,711 (GRCm38)	intron	probably benign
IGL02939:Pi4ka	APN	16	17,354,210 (GRCm38)	missense	probably damaging	0.97
IGL03123:Pi4ka	APN	16	17,282,675 (GRCm38)	missense	possibly damaging	0.95
IGL03148:Pi4ka	APN	16	17,354,189 (GRCm38)	missense	probably damaging	0.99
arachnoid	UTSW	16	17,285,281 (GRCm38)	unclassified	probably benign
dove_bar	UTSW	16	17,326,052 (GRCm38)	splice site	probably null
mia	UTSW	16	17,376,982 (GRCm38)	missense	possibly damaging	0.89
Pia	UTSW	16	17,281,044 (GRCm38)	missense	probably damaging	1.00
G1patch:Pi4ka	UTSW	16	17,376,982 (GRCm38)	missense	possibly damaging	0.89
IGL03098:Pi4ka	UTSW	16	17,326,027 (GRCm38)	missense	probably damaging	1.00
R0024:Pi4ka	UTSW	16	17,315,535 (GRCm38)	splice site	probably benign
R0054:Pi4ka	UTSW	16	17,325,114 (GRCm38)	missense	probably null	1.00
R0054:Pi4ka	UTSW	16	17,325,114 (GRCm38)	missense	probably null	1.00
R0243:Pi4ka	UTSW	16	17,297,635 (GRCm38)	missense	probably benign	0.44
R0374:Pi4ka	UTSW	16	17,282,932 (GRCm38)	unclassified	probably benign
R0478:Pi4ka	UTSW	16	17,309,311 (GRCm38)	missense	possibly damaging	0.92
R0548:Pi4ka	UTSW	16	17,307,718 (GRCm38)	missense	possibly damaging	0.75
R0626:Pi4ka	UTSW	16	17,293,901 (GRCm38)	missense	probably benign	0.00
R0918:Pi4ka	UTSW	16	17,285,260 (GRCm38)	missense	possibly damaging	0.61
R1082:Pi4ka	UTSW	16	17,389,352 (GRCm38)	missense	probably damaging	1.00
R1384:Pi4ka	UTSW	16	17,297,537 (GRCm38)	splice site	probably benign
R1455:Pi4ka	UTSW	16	17,363,954 (GRCm38)	missense	probably benign	0.02
R1479:Pi4ka	UTSW	16	17,373,400 (GRCm38)	missense	probably benign	0.08
R1490:Pi4ka	UTSW	16	17,386,268 (GRCm38)	missense	probably damaging	1.00
R1565:Pi4ka	UTSW	16	17,281,900 (GRCm38)	missense	probably null
R1594:Pi4ka	UTSW	16	17,373,419 (GRCm38)	splice site	probably benign
R1641:Pi4ka	UTSW	16	17,377,030 (GRCm38)	missense	probably benign	0.00
R1694:Pi4ka	UTSW	16	17,295,376 (GRCm38)	missense	probably damaging	0.99
R1828:Pi4ka	UTSW	16	17,280,750 (GRCm38)	missense	probably benign	0.00
R1864:Pi4ka	UTSW	16	17,367,525 (GRCm38)	nonsense	probably null
R2036:Pi4ka	UTSW	16	17,303,112 (GRCm38)	missense	probably damaging	1.00
R2151:Pi4ka	UTSW	16	17,367,507 (GRCm38)	missense	probably benign	0.44
R2844:Pi4ka	UTSW	16	17,350,793 (GRCm38)	missense	probably damaging	0.97
R2876:Pi4ka	UTSW	16	17,367,550 (GRCm38)	missense	possibly damaging	0.77
R3953:Pi4ka	UTSW	16	17,285,281 (GRCm38)	unclassified	probably benign
R3972:Pi4ka	UTSW	16	17,293,875 (GRCm38)	missense	probably damaging	1.00
R4357:Pi4ka	UTSW	16	17,367,439 (GRCm38)	missense	probably benign	0.00
R4385:Pi4ka	UTSW	16	17,386,265 (GRCm38)	missense	probably benign	0.13
R4427:Pi4ka	UTSW	16	17,281,044 (GRCm38)	missense	probably damaging	1.00
R4436:Pi4ka	UTSW	16	17,282,382 (GRCm38)	missense	probably damaging	1.00
R4677:Pi4ka	UTSW	16	17,282,373 (GRCm38)	missense	probably damaging	1.00
R4683:Pi4ka	UTSW	16	17,297,037 (GRCm38)	missense	possibly damaging	0.73
R4736:Pi4ka	UTSW	16	17,377,175 (GRCm38)	missense	probably benign	0.12
R4804:Pi4ka	UTSW	16	17,308,161 (GRCm38)	missense	possibly damaging	0.75
R4886:Pi4ka	UTSW	16	17,358,361 (GRCm38)	missense
R4893:Pi4ka	UTSW	16	17,377,036 (GRCm38)	missense	probably benign	0.21
R4896:Pi4ka	UTSW	16	17,377,169 (GRCm38)	missense	probably damaging	1.00
R5004:Pi4ka	UTSW	16	17,377,169 (GRCm38)	missense	probably damaging	1.00
R5015:Pi4ka	UTSW	16	17,303,082 (GRCm38)	missense	possibly damaging	0.56
R5062:Pi4ka	UTSW	16	17,309,397 (GRCm38)	missense	probably benign	0.02
R5104:Pi4ka	UTSW	16	17,281,050 (GRCm38)	missense	probably damaging	1.00
R5160:Pi4ka	UTSW	16	17,323,053 (GRCm38)	missense	probably benign	0.01
R5173:Pi4ka	UTSW	16	17,350,906 (GRCm38)	missense	possibly damaging	0.95
R5204:Pi4ka	UTSW	16	17,359,045 (GRCm38)	missense	possibly damaging	0.68
R5307:Pi4ka	UTSW	16	17,323,030 (GRCm38)	missense	probably benign	0.00
R5327:Pi4ka	UTSW	16	17,325,413 (GRCm38)	missense	probably damaging	1.00
R5506:Pi4ka	UTSW	16	17,293,953 (GRCm38)	missense	probably damaging	0.96
R5580:Pi4ka	UTSW	16	17,281,087 (GRCm38)	missense	probably damaging	1.00
R5768:Pi4ka	UTSW	16	17,354,872 (GRCm38)	missense	probably benign	0.29
R5857:Pi4ka	UTSW	16	17,358,984 (GRCm38)	missense	probably benign	0.00
R5951:Pi4ka	UTSW	16	17,303,142 (GRCm38)	missense	probably damaging	1.00
R5953:Pi4ka	UTSW	16	17,281,951 (GRCm38)	missense
R6041:Pi4ka	UTSW	16	17,360,572 (GRCm38)	missense	probably benign
R6223:Pi4ka	UTSW	16	17,357,571 (GRCm38)	nonsense	probably null
R6416:Pi4ka	UTSW	16	17,358,322 (GRCm38)	missense	probably benign	0.22
R6535:Pi4ka	UTSW	16	17,301,036 (GRCm38)	missense	probably damaging	1.00
R6580:Pi4ka	UTSW	16	17,350,830 (GRCm38)	missense	probably damaging	1.00
R6720:Pi4ka	UTSW	16	17,326,052 (GRCm38)	splice site	probably null
R6723:Pi4ka	UTSW	16	17,376,982 (GRCm38)	missense	possibly damaging	0.89
R6725:Pi4ka	UTSW	16	17,376,982 (GRCm38)	missense	possibly damaging	0.89
R6752:Pi4ka	UTSW	16	17,376,982 (GRCm38)	missense	possibly damaging	0.89
R6753:Pi4ka	UTSW	16	17,376,982 (GRCm38)	missense	possibly damaging	0.89
R6755:Pi4ka	UTSW	16	17,376,982 (GRCm38)	missense	possibly damaging	0.89
R6767:Pi4ka	UTSW	16	17,376,982 (GRCm38)	missense	possibly damaging	0.89
R6768:Pi4ka	UTSW	16	17,376,982 (GRCm38)	missense	possibly damaging	0.89
R6782:Pi4ka	UTSW	16	17,376,982 (GRCm38)	missense	possibly damaging	0.89
R6782:Pi4ka	UTSW	16	17,325,988 (GRCm38)	missense	probably damaging	1.00
R6788:Pi4ka	UTSW	16	17,376,982 (GRCm38)	missense	possibly damaging	0.89
R6849:Pi4ka	UTSW	16	17,303,421 (GRCm38)	missense	possibly damaging	0.54
R6958:Pi4ka	UTSW	16	17,325,227 (GRCm38)	missense	probably damaging	1.00
R7014:Pi4ka	UTSW	16	17,297,067 (GRCm38)	unclassified	probably benign
R7055:Pi4ka	UTSW	16	17,317,015 (GRCm38)	utr 3 prime	probably benign
R7317:Pi4ka	UTSW	16	17,405,632 (GRCm38)	critical splice donor site	probably null
R7533:Pi4ka	UTSW	16	17,297,661 (GRCm38)	missense
R7552:Pi4ka	UTSW	16	17,291,216 (GRCm38)	missense
R7581:Pi4ka	UTSW	16	17,301,060 (GRCm38)	missense
R7622:Pi4ka	UTSW	16	17,293,977 (GRCm38)	missense
R8048:Pi4ka	UTSW	16	17,303,127 (GRCm38)	missense
R8052:Pi4ka	UTSW	16	17,356,166 (GRCm38)	missense
R8079:Pi4ka	UTSW	16	17,303,060 (GRCm38)	missense
R8123:Pi4ka	UTSW	16	17,281,092 (GRCm38)	missense
R8211:Pi4ka	UTSW	16	17,282,905 (GRCm38)	missense
R8310:Pi4ka	UTSW	16	17,354,048 (GRCm38)	critical splice donor site	probably null
R8322:Pi4ka	UTSW	16	17,357,573 (GRCm38)	missense
R8509:Pi4ka	UTSW	16	17,354,144 (GRCm38)	missense
R8735:Pi4ka	UTSW	16	17,318,370 (GRCm38)	missense
R8912:Pi4ka	UTSW	16	17,389,366 (GRCm38)	missense
R8917:Pi4ka	UTSW	16	17,312,446 (GRCm38)	missense
R8921:Pi4ka	UTSW	16	17,307,740 (GRCm38)	missense
R8941:Pi4ka	UTSW	16	17,296,943 (GRCm38)	unclassified	probably benign
R9002:Pi4ka	UTSW	16	17,299,453 (GRCm38)	missense
R9203:Pi4ka	UTSW	16	17,282,301 (GRCm38)	missense
R9222:Pi4ka	UTSW	16	17,358,361 (GRCm38)	missense
R9230:Pi4ka	UTSW	16	17,281,924 (GRCm38)	missense
R9262:Pi4ka	UTSW	16	17,302,995 (GRCm38)	missense
R9338:Pi4ka	UTSW	16	17,317,363 (GRCm38)	missense
R9374:Pi4ka	UTSW	16	17,307,710 (GRCm38)	missense
R9436:Pi4ka	UTSW	16	17,307,806 (GRCm38)	missense
R9499:Pi4ka	UTSW	16	17,307,710 (GRCm38)	missense
R9501:Pi4ka	UTSW	16	17,386,292 (GRCm38)	missense
R9551:Pi4ka	UTSW	16	17,307,710 (GRCm38)	missense
R9705:Pi4ka	UTSW	16	17,281,951 (GRCm38)	missense
RF007:Pi4ka	UTSW	16	17,297,233 (GRCm38)	missense
U24488:Pi4ka	UTSW	16	17,325,176 (GRCm38)	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- CTACAAGGTCTAGGCCATCTAGG -3'
(R):5'- GAAGAGTCTCTCCTCTCAAAGC -3'

Sequencing Primer
(F):5'- GCCATCTAGGTCATACAGTGAGTTC -3'
(R):5'- CTCTCAAAGCTTTTCCCCAAAG -3'

Posted On

2019-11-12