Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03087:Pi4kb'

418151

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pi4kb

Ensembl Gene

ENSMUSG00000038861

Gene Name

phosphatidylinositol 4-kinase beta

Synonyms

ESTM41, Pik4cb

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.963) question?

Stock #

IGL03087

Quality Score

Status

Chromosome

Chromosomal Location

94974731-95006843 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 94984764 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 264 (R264G)

Ref Sequence

ENSEMBL: ENSMUSP00000121965 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000072287] [ENSMUST00000107251] [ENSMUST00000125476] [ENSMUST00000138209] [ENSMUST00000167008]

Predicted Effect

probably benign
Transcript: ENSMUST00000072287
AA Change: R252G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000072134
Gene: ENSMUSG00000038861
AA Change: R252G

Domain	Start	End	E-Value	Type
low complexity region	10	31	N/A	INTRINSIC
SCOP:d1e8xa1	140	231	5e-22	SMART
PI3Kc	545	799	6.47e-105	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000107251
AA Change: R252G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000102872
Gene: ENSMUSG00000038861
AA Change: R252G

Domain	Start	End	E-Value	Type
low complexity region	10	31	N/A	INTRINSIC
SCOP:d1e8xa1	140	231	5e-22	SMART
PI3Kc	560	814	6.47e-105	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000125476
AA Change: R264G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000121965
Gene: ENSMUSG00000038861
AA Change: R264G

Domain	Start	End	E-Value	Type
low complexity region	22	43	N/A	INTRINSIC
SCOP:d1e8xa1	152	243	5e-22	SMART
PI3Kc	572	826	6.47e-105	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000138209

Predicted Effect

probably benign
Transcript: ENSMUST00000167008

SMART Domains

Protein: ENSMUSP00000132150
Gene: ENSMUSG00000038861

Domain	Start	End	E-Value	Type
PI3Kc	228	482	6.47e-105	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1500035N22Rik	C	T	5: 24,997,632		probably benign	Het
Acbd5	A	G	2: 23,089,710	T261A	probably benign	Het
Ap1g2	G	A	14: 55,103,036	T331I	probably damaging	Het
Ap4m1	A	G	5: 138,174,804	T150A	probably benign	Het
Arid4a	G	T	12: 71,075,245	R478L	possibly damaging	Het
Bard1	T	C	1: 71,067,130	D446G	probably damaging	Het
Baz2a	T	C	10: 128,122,313	L1087P	probably damaging	Het
Bnc1	A	G	7: 81,974,642	L279P	possibly damaging	Het
Bphl	A	T	13: 34,073,711	H275L	probably damaging	Het
Ces1c	T	C	8: 93,118,414	I120V	probably benign	Het
Csmd3	T	A	15: 47,977,033	Y946F	probably damaging	Het
Dnah8	G	A	17: 30,784,144	V3606I	probably benign	Het
Eef2	A	G	10: 81,181,247	N696S	probably benign	Het
Eno4	A	G	19: 58,962,816	H420R	possibly damaging	Het
Enpp1	T	A	10: 24,655,881		probably benign	Het
Fbxo25	T	C	8: 13,924,019		probably null	Het
Glt8d1	T	A	14: 31,010,096	F155I	probably damaging	Het
Golim4	A	T	3: 75,878,673	H598Q	possibly damaging	Het
Hnrnpdl	T	A	5: 100,037,601	E149D	probably damaging	Het
Ifngr2	G	T	16: 91,563,004	*333L	probably null	Het
Ift88	T	C	14: 57,477,957	S486P	probably benign	Het
Igsf9	T	C	1: 172,490,743	I150T	probably benign	Het
Jag2	G	A	12: 112,913,948	L670F	possibly damaging	Het
Kcnc2	T	A	10: 112,455,747	I280N	probably benign	Het
Kif18a	A	G	2: 109,318,117		probably benign	Het
Lct	A	G	1: 128,300,375	L1127P	possibly damaging	Het
Lonrf1	A	T	8: 36,225,551		probably null	Het
Lyst	T	A	13: 13,635,056	I437N	probably damaging	Het
Map3k1	A	G	13: 111,749,025	S1453P	probably benign	Het
Mcmdc2	A	G	1: 9,930,945	M482V	possibly damaging	Het
Mical1	T	C	10: 41,482,690	S535P	probably damaging	Het
Myh3	T	C	11: 67,090,972	F765L	probably damaging	Het
Nat8f6	A	T	6: 85,808,517	Y217N	probably damaging	Het
Ndufaf1	A	G	2: 119,655,799		probably benign	Het
Neurod6	A	T	6: 55,678,775	C292*	probably null	Het
Olfr1106	A	T	2: 87,049,012	S75T	possibly damaging	Het
Olfr1255	A	G	2: 89,816,671	E109G	probably damaging	Het
Olfr530	T	A	7: 140,373,092	I173F	probably damaging	Het
Olfr809	A	T	10: 129,776,261	M116L	probably damaging	Het
Olfr828	T	C	9: 18,816,084	D70G	probably damaging	Het
Pcdhac2	A	G	18: 37,145,682	N572D	probably damaging	Het
Pfpl	A	G	19: 12,428,877	N164S	probably benign	Het
Pla2g2c	T	A	4: 138,731,612	F10I	probably benign	Het
Rag2	G	A	2: 101,630,214	V290I	probably benign	Het
Rhot2	G	A	17: 25,841,141		probably benign	Het
Rps6kc1	T	C	1: 190,871,711	Y238C	probably damaging	Het
Scyl2	G	T	10: 89,652,968	A495D	possibly damaging	Het
Sept4	T	A	11: 87,585,245		probably benign	Het
Serpina5	G	T	12: 104,101,733	A18S	probably benign	Het
Slc25a11	T	C	11: 70,645,207	T234A	probably benign	Het
Slc44a2	C	T	9: 21,346,765	T435I	probably benign	Het
Tekt2	T	A	4: 126,324,867	Q31L	possibly damaging	Het
Tfpi	A	G	2: 84,444,045	V199A	possibly damaging	Het
Trap1	G	T	16: 4,044,701		probably null	Het
Trmt1	A	G	8: 84,695,233	Y213C	probably damaging	Het
Ubr4	C	T	4: 139,450,357	R3184*	probably null	Het
Uroc1	G	T	6: 90,363,103		probably benign	Het
Vmn1r19	A	G	6: 57,404,491	I10V	probably benign	Het
Zfhx2	G	A	14: 55,072,845	A748V	possibly damaging	Het

Other mutations in Pi4kb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00424:Pi4kb	APN	3	95004263	missense	probably damaging	1.00
IGL01559:Pi4kb	APN	3	94984129	missense	probably benign	0.00
IGL03003:Pi4kb	APN	3	94984812	missense	probably benign	0.00
R0014:Pi4kb	UTSW	3	94998897	missense	probably damaging	1.00
R0196:Pi4kb	UTSW	3	94998950	missense	probably damaging	1.00
R0387:Pi4kb	UTSW	3	94984740	missense	probably benign	0.42
R0394:Pi4kb	UTSW	3	94996804	intron	probably benign
R0394:Pi4kb	UTSW	3	94996805	intron	probably benign
R1485:Pi4kb	UTSW	3	94994387	missense	probably damaging	0.99
R3700:Pi4kb	UTSW	3	94994288	missense	probably benign	0.09
R4449:Pi4kb	UTSW	3	94984735	missense	probably benign	0.41
R4502:Pi4kb	UTSW	3	94996607	missense	probably benign	0.02
R4717:Pi4kb	UTSW	3	94998851	missense	probably damaging	1.00
R4737:Pi4kb	UTSW	3	95004338	missense	probably damaging	1.00
R4763:Pi4kb	UTSW	3	95004409	intron	probably benign
R5322:Pi4kb	UTSW	3	94994249	missense	probably benign	0.04
R5427:Pi4kb	UTSW	3	94994207	missense	probably benign	0.09
R5622:Pi4kb	UTSW	3	94998861	missense	possibly damaging	0.56
R5625:Pi4kb	UTSW	3	94984677	missense	probably benign	0.15
R5755:Pi4kb	UTSW	3	94994297	unclassified	probably null
R5926:Pi4kb	UTSW	3	94998996	missense	probably damaging	1.00
R6904:Pi4kb	UTSW	3	94993150	missense	probably damaging	1.00
R6984:Pi4kb	UTSW	3	94996934	missense	probably damaging	1.00
R7221:Pi4kb	UTSW	3	94994189	missense	probably damaging	1.00
R7312:Pi4kb	UTSW	3	94984577	missense	probably benign	0.12
R7511:Pi4kb	UTSW	3	94989312	missense	probably benign	0.00
R7571:Pi4kb	UTSW	3	94999114	critical splice donor site	probably null
R7885:Pi4kb	UTSW	3	94999076	missense	probably damaging	1.00
R7968:Pi4kb	UTSW	3	94999076	missense	probably damaging	1.00
Z1088:Pi4kb	UTSW	3	94984509	missense	probably damaging	1.00

Posted On

2016-08-02