Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00743:Pik3c3'

13013

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pik3c3

Ensembl Gene

ENSMUSG00000033628

Gene Name

phosphatidylinositol 3-kinase catalytic subunit type 3

Synonyms

5330434F23Rik, Vps34

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL00743

Quality Score

Status

Chromosome

Chromosomal Location

30272747-30348126 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 30274364 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Phenylalanine at position 55 (S55F)

Ref Sequence

ENSEMBL: ENSMUSP00000128927 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000091978] [ENSMUST00000115811] [ENSMUST00000115812] [ENSMUST00000131405]

Predicted Effect

probably damaging
Transcript: ENSMUST00000091978
AA Change: S55F

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000089601
Gene: ENSMUSG00000033628
AA Change: S55F

Domain	Start	End	E-Value	Type
C2	20	141	4.44e0	SMART
PI3K_C2	21	130	1.43e-42	SMART
PI3Ka	283	530	3.08e-111	SMART
PI3Kc	632	848	1.02e-84	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000115811
AA Change: S55F

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000111478
Gene: ENSMUSG00000033628
AA Change: S55F

Domain	Start	End	E-Value	Type
C2	20	141	4.44e0	SMART
PI3K_C2	21	130	1.43e-42	SMART
PI3Ka	283	530	3.08e-111	SMART
PI3Kc	632	756	5.33e-8	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000115812
AA Change: S55F

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000111479
Gene: ENSMUSG00000033628
AA Change: S55F

Domain	Start	End	E-Value	Type
C2	20	141	4.44e0	SMART
PI3K_C2	21	130	1.43e-42	SMART
PI3Ka	283	530	3.08e-111	SMART
PI3Kc	632	884	1.21e-118	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000131405
AA Change: S55F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000128927
Gene: ENSMUSG00000033628
AA Change: S55F

Domain	Start	End	E-Value	Type
C2	20	141	4.44e0	SMART
PI3K_C2	21	130	1.43e-42	SMART
PI3Ka	283	506	1.78e-84	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a null allele display embryonic lethality between implantation and placentation, arrest prior to gastrulation, and show reduced cell proliferation. Mice homozygous for a conditional allele activated in T cells exhibit impaired naive Tcell homeostasis and mitophagy. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acss1	T	C	2: 150,619,686	E659G	probably benign	Het
Adgrg6	A	C	10: 14,535,959		probably benign	Het
Als2cl	A	G	9: 110,889,159	K323E	possibly damaging	Het
Atm	A	C	9: 53,513,116	S628R	probably benign	Het
Baz2a	T	C	10: 128,114,526	V443A	probably benign	Het
Bclaf3	T	A	X: 159,558,361	F545Y	probably benign	Het
Calcr	T	C	6: 3,717,196	Y88C	probably damaging	Het
Ccdc178	C	T	18: 22,145,444		probably benign	Het
Cdh20	A	G	1: 104,947,428	T312A	probably benign	Het
Chrnd	G	A	1: 87,192,927	W91*	probably null	Het
Cntln	T	C	4: 84,979,415	F413S	probably benign	Het
Ctsq	A	T	13: 61,036,184	I308N	probably damaging	Het
Cyp2d34	A	T	15: 82,617,535	V258D	probably damaging	Het
Dnajc13	G	A	9: 104,162,780	P2044S	probably benign	Het
Hnrnpm	C	A	17: 33,649,902	R517L	probably damaging	Het
Hps6	A	T	19: 46,003,660	D12V	probably damaging	Het
Hpse	T	C	5: 100,698,999	D188G	probably benign	Het
Id2	C	A	12: 25,095,356	E123*	probably null	Het
Ints10	C	T	8: 68,819,333	P562L	probably damaging	Het
Kctd10	G	A	5: 114,367,349	R195C	probably damaging	Het
Kel	A	C	6: 41,688,575	L537R	probably damaging	Het
Kif19a	T	C	11: 114,784,773	V357A	probably damaging	Het
Lrrtm3	A	T	10: 64,089,209	S60T	probably damaging	Het
Myof	C	A	19: 37,960,934	R608L	probably benign	Het
Naa35	A	T	13: 59,630,671	I669F	probably benign	Het
Olfr968	A	G	9: 39,772,111	S230P	possibly damaging	Het
Olfr971	A	T	9: 39,839,706	I91F	probably benign	Het
Pclo	G	T	5: 14,678,021		probably benign	Het
Prdm6	T	G	18: 53,540,228	D153E	possibly damaging	Het
Rnf183	T	C	4: 62,428,373	T63A	probably benign	Het
Samd4b	A	C	7: 28,401,877	I108S	probably damaging	Het
Slc9a7	T	C	X: 20,106,021	D708G	possibly damaging	Het
Stim2	A	G	5: 54,053,493	D90G	probably benign	Het
Tmem52b	A	G	6: 129,516,715	D97G	probably damaging	Het
Tnfsf15	T	C	4: 63,734,281	R98G	probably benign	Het
Uxs1	C	T	1: 43,757,013	V310I	probably benign	Het
Vcan	A	C	13: 89,725,306	M143R	probably damaging	Het
Vmn2r93	T	C	17: 18,326,242	F792S	probably damaging	Het
Zfp455	T	C	13: 67,207,898	I345T	probably benign	Het
Zfp938	A	T	10: 82,226,483	M101K	probably benign	Het
Zkscan2	A	G	7: 123,479,972	S921P	probably damaging	Het

Other mutations in Pik3c3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00585:Pik3c3	APN	18	30303078	splice site	probably benign
IGL01622:Pik3c3	APN	18	30290525	nonsense	probably null
IGL01622:Pik3c3	APN	18	30293049	splice site	probably benign
IGL01623:Pik3c3	APN	18	30290525	nonsense	probably null
IGL01623:Pik3c3	APN	18	30293049	splice site	probably benign
IGL01773:Pik3c3	APN	18	30277102	missense	probably damaging	1.00
IGL01917:Pik3c3	APN	18	30274446	missense	probably damaging	1.00
IGL02033:Pik3c3	APN	18	30312650	missense	possibly damaging	0.85
IGL02465:Pik3c3	APN	18	30344060	missense	probably damaging	0.97
IGL03161:Pik3c3	APN	18	30293707	missense	probably benign	0.37
IGL03221:Pik3c3	APN	18	30302931	missense	probably benign	0.45
H8786:Pik3c3	UTSW	18	30294343	missense	probably damaging	0.99
R0089:Pik3c3	UTSW	18	30303078	splice site	probably benign
R1512:Pik3c3	UTSW	18	30322236	critical splice donor site	probably null
R1713:Pik3c3	UTSW	18	30323586	missense	possibly damaging	0.73
R1758:Pik3c3	UTSW	18	30277010	missense	probably damaging	1.00
R1822:Pik3c3	UTSW	18	30344077	critical splice donor site	probably null
R1870:Pik3c3	UTSW	18	30293132	critical splice donor site	probably null
R2680:Pik3c3	UTSW	18	30344078	critical splice donor site	probably null
R3768:Pik3c3	UTSW	18	30333273	missense	probably damaging	1.00
R3926:Pik3c3	UTSW	18	30311329	splice site	probably benign
R4154:Pik3c3	UTSW	18	30311283	missense	probably benign	0.35
R4293:Pik3c3	UTSW	18	30343990	missense	probably damaging	1.00
R4570:Pik3c3	UTSW	18	30290550	missense	possibly damaging	0.94
R4858:Pik3c3	UTSW	18	30344078	critical splice donor site	probably null
R4893:Pik3c3	UTSW	18	30282000	missense	probably benign	0.16
R4901:Pik3c3	UTSW	18	30302929	missense	possibly damaging	0.65
R5216:Pik3c3	UTSW	18	30272976	missense	probably damaging	1.00
R5358:Pik3c3	UTSW	18	30323544	missense	probably damaging	1.00
R5373:Pik3c3	UTSW	18	30312561	missense	probably benign	0.40
R5374:Pik3c3	UTSW	18	30312561	missense	probably benign	0.40
R5600:Pik3c3	UTSW	18	30311293	missense	probably damaging	1.00
R5680:Pik3c3	UTSW	18	30277113	nonsense	probably null
R5965:Pik3c3	UTSW	18	30298580	missense	probably damaging	1.00
R6492:Pik3c3	UTSW	18	30324562	missense	probably damaging	1.00
R6576:Pik3c3	UTSW	18	30342741	intron	probably benign
R6700:Pik3c3	UTSW	18	30316901	missense	probably benign	0.02
R7523:Pik3c3	UTSW	18	30293655	missense	probably damaging	1.00
R7883:Pik3c3	UTSW	18	30274363	missense	probably benign	0.04
R7884:Pik3c3	UTSW	18	30312571	missense	probably benign	0.00
R7886:Pik3c3	UTSW	18	30319588	nonsense	probably null
R8075:Pik3c3	UTSW	18	30305029	missense	probably damaging	0.99

Posted On

2012-12-06