Mutagenetix > Incidental Mutation

Incidental Mutation 'R6416:Pi4ka'

517962

Institutional Source

Beutler Lab

Gene Symbol

Pi4ka

Ensembl Gene

ENSMUSG00000041720

Gene Name

phosphatidylinositol 4-kinase alpha

Synonyms

Pik4ca

MMRRC Submission

044558-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6416 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

17280351-17406314 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 17358322 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 418 (I418V)

Ref Sequence

ENSEMBL: ENSMUSP00000122550 (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: I418V

PolyPhen 2 Score 0.143 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000036162
Gene: ENSMUSG00000041720
AA Change: I418V

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: ENSMUST00000154364
AA Change: I418V

PolyPhen 2 Score 0.223 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000122550
Gene: ENSMUSG00000041720
AA Change: I418V

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: ENSMUST00000232232
AA Change: I418V

PolyPhen 2 Score 0.216 (Sensitivity: 0.91; Specificity: 0.88)

Coding Region Coverage

1x: 100.0%
3x: 99.8%
10x: 98.4%
20x: 94.6%

Validation Efficiency

99% (67/68)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310061N02Rik	C	A	16: 88,707,891 (GRCm38)	R6L	unknown	Het
Anxa11	A	G	14: 25,874,270 (GRCm38)	Q235R	possibly damaging	Het
Ap2b1	T	A	11: 83,308,239 (GRCm38)	M1K	probably null	Het
Atl2	G	A	17: 79,850,223 (GRCm38)	T563I	probably benign	Het
Azin1	A	T	15: 38,492,343 (GRCm38)	S307R	possibly damaging	Het
Ccdc153	A	G	9: 44,245,780 (GRCm38)	T118A	probably benign	Het
Chac1	G	A	2: 119,353,534 (GRCm38)	V206I	probably damaging	Het
Chrm3	A	G	13: 9,877,662 (GRCm38)	V446A	probably benign	Het
Cped1	T	C	6: 22,123,649 (GRCm38)	F467S	probably damaging	Het
Csmd3	G	A	15: 48,673,560 (GRCm38)	P82L	probably damaging	Het
Ddx60	T	A	8: 61,977,950 (GRCm38)	S840T	probably benign	Het
Ddx60	C	T	8: 61,998,681 (GRCm38)	H1202Y	probably benign	Het
Dnah8	T	A	17: 30,765,635 (GRCm38)	N3102K	probably benign	Het
Dst	A	T	1: 34,116,128 (GRCm38)	K85M	probably damaging	Het
Ehbp1l1	T	C	19: 5,718,757 (GRCm38)	I839M	probably benign	Het
Fam184b	T	A	5: 45,537,653 (GRCm38)	M750L	probably benign	Het
Frem2	T	C	3: 53,572,378 (GRCm38)	T1965A	probably benign	Het
Ftl1	A	T	7: 45,459,210 (GRCm38)	D41E	probably benign	Het
Garem2	G	A	5: 30,116,737 (GRCm38)	W698*	probably null	Het
Glt8d2	T	C	10: 82,652,906 (GRCm38)	Y283C	probably damaging	Het
Hars	T	C	18: 36,773,590 (GRCm38)	E109G	possibly damaging	Het
Hspb9	T	C	11: 100,714,210 (GRCm38)	S121P	probably damaging	Het
Hus1b	A	T	13: 30,947,205 (GRCm38)	L157Q	probably damaging	Het
Hykk	A	G	9: 54,946,359 (GRCm38)	M322V	probably benign	Het
Igkv4-61	C	A	6: 69,417,154 (GRCm38)	A31S	possibly damaging	Het
Il17f	T	A	1: 20,777,907 (GRCm38)	M116L	probably benign	Het
Kif22	T	C	7: 127,028,932 (GRCm38)	K9E	possibly damaging	Het
Krt90	T	C	15: 101,559,244 (GRCm38)	E233G	probably benign	Het
Lipg	T	C	18: 74,957,236 (GRCm38)	M81V	probably benign	Het
Mocos	C	T	18: 24,701,456 (GRCm38)	S850L	probably damaging	Het
Mug2	T	A	6: 122,082,754 (GRCm38)	S1364T	probably damaging	Het
Neb	A	T	2: 52,185,328 (GRCm38)	N208K	probably benign	Het
Oca2	G	T	7: 56,328,767 (GRCm38)	R561L	probably benign	Het
Olfm5	A	G	7: 104,154,053 (GRCm38)	L401P	probably damaging	Het
Olfr109	T	A	17: 37,467,080 (GRCm38)	Y291*	probably null	Het
Olfr1238	C	A	2: 89,406,522 (GRCm38)	A186S	possibly damaging	Het
Olfr331	T	C	11: 58,502,340 (GRCm38)	D72G	probably damaging	Het
Olfr828	G	A	9: 18,815,892 (GRCm38)	T134M	probably benign	Het
Olfr952	T	A	9: 39,426,891 (GRCm38)	Y60F	probably damaging	Het
Oxgr1	T	C	14: 120,022,448 (GRCm38)	N116D	probably damaging	Het
Pcdha11	G	T	18: 37,012,169 (GRCm38)		probably null	Het
Pih1d2	T	C	9: 50,618,609 (GRCm38)	V62A	probably benign	Het
Pkib	T	A	10: 57,728,138 (GRCm38)	V46E	probably damaging	Het
Pum1	A	G	4: 130,728,287 (GRCm38)		probably null	Het
Rbak	G	T	5: 143,176,552 (GRCm38)	Q19K	possibly damaging	Het
Sema3c	A	G	5: 17,576,961 (GRCm38)	T32A	probably damaging	Het
Shprh	T	C	10: 11,167,873 (GRCm38)	W835R	probably damaging	Het
Sis	T	G	3: 72,911,854 (GRCm38)	K1456N	probably damaging	Het
Slc4a4	A	T	5: 89,179,729 (GRCm38)	N675I	probably benign	Het
Slc8a3	C	A	12: 81,315,627 (GRCm38)	M139I	probably damaging	Het
Sorcs3	T	C	19: 48,802,759 (GRCm38)	F1182S	probably damaging	Het
St8sia2	A	T	7: 73,971,921 (GRCm38)	I96N	probably damaging	Het
Stx19	T	C	16: 62,822,057 (GRCm38)	S79P	probably damaging	Het
Tecta	C	T	9: 42,375,267 (GRCm38)	V698M	probably damaging	Het
Timm22	T	C	11: 76,411,139 (GRCm38)	S150P	probably damaging	Het
Tjp1	C	T	7: 65,313,205 (GRCm38)	D995N	possibly damaging	Het
Tmem135	T	A	7: 89,147,794 (GRCm38)	T365S	probably benign	Het
Tmem174	T	C	13: 98,636,981 (GRCm38)	T114A	probably benign	Het
Tnc	A	G	4: 64,007,816 (GRCm38)	I909T	probably benign	Het
Trcg1	A	G	9: 57,241,330 (GRCm38)	I62V	possibly damaging	Het
Tulp1	A	T	17: 28,356,031 (GRCm38)	*487K	probably null	Het
Unc79	T	A	12: 103,131,646 (GRCm38)	V1826E	possibly damaging	Het
Vmn2r13	A	T	5: 109,174,116 (GRCm38)	N238K	probably damaging	Het
Vmn2r22	T	A	6: 123,637,738 (GRCm38)	N298Y	probably damaging	Het
Vmn2r23	T	A	6: 123,712,902 (GRCm38)	F246I	probably damaging	Het
Vps9d1	A	C	8: 123,248,639 (GRCm38)	V194G	probably damaging	Het
Zfp260	A	T	7: 30,104,810 (GRCm38)	H45L	possibly damaging	Het
Zfp846	A	T	9: 20,593,720 (GRCm38)	H292L	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
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
R7717:Pi4ka	UTSW	16	17,376,923 (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'- ACCACTTGCCCTATATGGAGC -3'
(R):5'- CCGCCTGTCACTGTTAAAAC -3'

Sequencing Primer
(F):5'- ACTTGCCCTATATGGAGCAGCTTATG -3'
(R):5'- TGTCACTGTTAAAACCTGCAACAG -3'

Posted On

2018-05-24