Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03123:Pi4ka'

410066

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL03123

Quality Score

Status

Chromosome

Chromosomal Location

17098215-17224178 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 17100539 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 1857 (G1857D)

Ref Sequence

ENSEMBL: ENSMUSP00000036162 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036161] [ENSMUST00000154364] [ENSMUST00000162085] [ENSMUST00000164950] [ENSMUST00000232232] [ENSMUST00000232364]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000036161
AA Change: G1857D

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000036162
Gene: ENSMUSG00000041720
AA Change: G1857D

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: ENSMUST00000127121

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132152

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139404

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148110

Predicted Effect

possibly damaging
Transcript: ENSMUST00000154364
AA Change: G1857D

PolyPhen 2 Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000122550
Gene: ENSMUSG00000041720
AA Change: G1857D

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

noncoding transcript
Transcript: ENSMUST00000160161

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160949

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162522

Predicted Effect

probably benign
Transcript: ENSMUST00000162085

SMART Domains

Protein: ENSMUSP00000124217
Gene: ENSMUSG00000055692

Domain	Start	End	E-Value	Type
Pfam:TMEM191C	1	59	1.2e-29	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231917

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231914

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231322

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231517

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231347

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231334

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231646

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231529

Predicted Effect

probably benign
Transcript: ENSMUST00000164950

SMART Domains

Protein: ENSMUSP00000131127
Gene: ENSMUSG00000055692

Domain	Start	End	E-Value	Type
coiled coil region	5	112	N/A	INTRINSIC
Pfam:TMEM191C	182	302	1.5e-68	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231638

Predicted Effect

possibly damaging
Transcript: ENSMUST00000232232
AA Change: G1857D

PolyPhen 2 Score 0.716 (Sensitivity: 0.86; Specificity: 0.92)

Predicted Effect

probably benign
Transcript: ENSMUST00000232364

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232631

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232636

Predicted Effect

probably benign
Transcript: ENSMUST00000232167

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232092

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232520

Coding Region Coverage

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ap5m1	T	C	14: 49,311,218 (GRCm39)	V96A	probably damaging	Het
Atp10b	T	C	11: 43,044,110 (GRCm39)	V112A	probably benign	Het
Caprin2	G	T	6: 148,796,505 (GRCm39)	A36E	probably damaging	Het
Castor1	A	T	11: 4,170,278 (GRCm39)	T119S	probably damaging	Het
Dnase1l2	T	C	17: 24,661,226 (GRCm39)	M28V	possibly damaging	Het
Eci1	T	A	17: 24,655,300 (GRCm39)		probably null	Het
Edil3	T	A	13: 89,279,855 (GRCm39)	S178T	probably damaging	Het
Epha5	A	G	5: 84,479,085 (GRCm39)		probably null	Het
Exoc3l4	A	G	12: 111,388,547 (GRCm39)	E12G	probably damaging	Het
Frmd7	G	A	X: 49,984,835 (GRCm39)	T445I	probably benign	Het
Golga4	A	G	9: 118,365,953 (GRCm39)	E344G	probably damaging	Het
H2-M10.4	A	G	17: 36,772,812 (GRCm39)	Y57H	probably damaging	Het
Hnmt	T	C	2: 23,909,171 (GRCm39)	I81V	probably benign	Het
Hsd17b7	C	T	1: 169,780,649 (GRCm39)	E320K	probably damaging	Het
Htra3	C	T	5: 35,823,477 (GRCm39)	V280I	probably damaging	Het
Impg2	G	T	16: 56,087,485 (GRCm39)	E992D	probably damaging	Het
Kctd4	T	C	14: 76,200,418 (GRCm39)	W130R	possibly damaging	Het
Kdm3b	T	A	18: 34,942,544 (GRCm39)		probably null	Het
Kmt2d	G	A	15: 98,759,652 (GRCm39)	T1202M	unknown	Het
Lrp11	A	T	10: 7,478,689 (GRCm39)	D326V	probably damaging	Het
Lrrcc1	A	T	3: 14,601,144 (GRCm39)	I59F	probably damaging	Het
Lyg2	G	A	1: 37,954,845 (GRCm39)		probably benign	Het
Med16	A	G	10: 79,732,667 (GRCm39)	V699A	probably damaging	Het
Myo18b	G	T	5: 113,022,804 (GRCm39)		probably benign	Het
Nrxn2	A	G	19: 6,531,767 (GRCm39)	T744A	probably damaging	Het
Or1e1f	T	A	11: 73,855,812 (GRCm39)	I126N	probably damaging	Het
Oser1	A	T	2: 163,253,309 (GRCm39)		probably benign	Het
Pcdhgc5	T	C	18: 37,952,966 (GRCm39)	V80A	probably benign	Het
Pitpnc1	C	T	11: 107,228,237 (GRCm39)		probably null	Het
Pofut2	A	G	10: 77,102,844 (GRCm39)	E137G	probably benign	Het
Rgsl1	A	T	1: 153,701,687 (GRCm39)	W291R	probably damaging	Het
Rnf113a2	T	C	12: 84,465,050 (GRCm39)	I314T	probably benign	Het
Rps2	C	T	17: 24,939,263 (GRCm39)		probably benign	Het
Setbp1	T	C	18: 78,900,224 (GRCm39)	K1148E	probably damaging	Het
Slc45a2	A	G	15: 11,012,741 (GRCm39)	D248G	probably benign	Het
Slit2	G	T	5: 48,368,681 (GRCm39)	R352L	probably damaging	Het
Smg1	A	G	7: 117,756,404 (GRCm39)		probably benign	Het
Sycp2	A	T	2: 177,994,272 (GRCm39)	C1217*	probably null	Het
Tbcb	A	G	7: 29,926,261 (GRCm39)		probably benign	Het
Tinf2	T	C	14: 55,918,346 (GRCm39)	D128G	probably damaging	Het
Traf3ip2	A	G	10: 39,515,218 (GRCm39)	D332G	possibly damaging	Het
Tram1	A	G	1: 13,659,829 (GRCm39)	F40L	probably benign	Het
Trank1	A	T	9: 111,196,475 (GRCm39)	I1500L	probably damaging	Het
Wdfy4	G	A	14: 32,884,827 (GRCm39)	P25L	probably benign	Het
Wnt5a	G	T	14: 28,244,882 (GRCm39)	Q376H	probably damaging	Het
Zfp526	A	C	7: 24,924,049 (GRCm39)	T103P	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
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
U24488:Pi4ka	UTSW	16	17,143,040 (GRCm39)	missense	probably damaging	0.96

Posted On

2016-08-02