Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01559:Pi4kb'

90797

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 #

IGL01559

Quality Score

Status

Chromosome

Chromosomal Location

94974731-95006843 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 94984129 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 52 (L52Q)

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: L40Q

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000072134
Gene: ENSMUSG00000038861
AA Change: L40Q

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: L40Q

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000102872
Gene: ENSMUSG00000038861
AA Change: L40Q

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: L52Q

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000121965
Gene: ENSMUSG00000038861
AA Change: L52Q

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: 20 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	A	11: 9,309,020	N2915K	possibly damaging	Het
Abca5	T	C	11: 110,272,526	N1621S	probably benign	Het
Asb18	G	A	1: 89,954,450	S122F	probably damaging	Het
Atg4c	A	G	4: 99,218,203		probably benign	Het
Bbs7	T	C	3: 36,594,510	Y363C	probably damaging	Het
Celsr2	T	C	3: 108,406,867	T1281A	possibly damaging	Het
Cers1	A	G	8: 70,323,233	N295S	probably damaging	Het
Csn1s2b	A	T	5: 87,820,951	K80*	probably null	Het
Dennd6a	A	G	14: 26,608,565	D97G	probably damaging	Het
Dmxl1	A	G	18: 49,920,938	Y2537C	probably damaging	Het
Dnah6	A	G	6: 73,024,252		probably null	Het
Exoc4	A	G	6: 33,266,076	T75A	probably damaging	Het
Fbll1	T	C	11: 35,797,545	E297G	probably damaging	Het
Gm10642	T	A	9: 70,656,592	D152V	probably damaging	Het
Hdac3	A	G	18: 37,943,672		probably benign	Het
Kif17	A	G	4: 138,293,769	I850V	probably damaging	Het
Olfr166	T	C	16: 19,487,459	L207P	probably benign	Het
Sec14l1	C	A	11: 117,143,284		probably null	Het
Slc28a2	T	A	2: 122,454,540	H336Q	probably damaging	Het
Usp17lb	A	G	7: 104,841,229	S164P	probably 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
IGL03003:Pi4kb	APN	3	94984812	missense	probably benign	0.00
IGL03087:Pi4kb	APN	3	94984764	missense	probably benign
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

2013-12-09