Mutagenetix > Incidental Mutations

Incidental Mutation 'R2280:Pip5k1b'

243084

Institutional Source

Beutler Lab

Gene Symbol

Pip5k1b

Ensembl Gene

ENSMUSG00000024867

Gene Name

phosphatidylinositol-4-phosphate 5-kinase, type 1 beta

Synonyms

Pipk5b

MMRRC Submission

040279-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.110) question?

Stock #

R2280 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

24294794-24555872 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 24378947 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 209 (Y209F)

Ref Sequence

ENSEMBL: ENSMUSP00000108292 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025800] [ENSMUST00000112673]

Predicted Effect

probably damaging
Transcript: ENSMUST00000025800
AA Change: Y209F

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000025800
Gene: ENSMUSG00000024867
AA Change: Y209F

Domain	Start	End	E-Value	Type
PIPKc	53	396	1.1e-159	SMART
low complexity region	472	484	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000112673
AA Change: Y209F

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000108292
Gene: ENSMUSG00000024867
AA Change: Y209F

Domain	Start	End	E-Value	Type
PIPKc	53	396	1.1e-159	SMART
low complexity region	420	432	N/A	INTRINSIC

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.5%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit enhanced passive cutaneous and systemic anaphylaxis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alms1	A	G	6: 85,677,973	N2698S	probably damaging	Het
Ankrd37	T	C	8: 45,999,376	T19A	probably benign	Het
Anks1b	A	C	10: 90,966,302	K353N	probably damaging	Het
Ano3	T	A	2: 110,682,759	E630D	probably benign	Het
Ap3b1	A	G	13: 94,528,216	M888V	unknown	Het
Apoh	T	A	11: 108,409,180	Y218*	probably null	Het
Arhgef19	G	A	4: 141,246,516	G105S	probably benign	Het
Brd7	A	G	8: 88,342,757	S437P	probably benign	Het
Cacna2d4	A	T	6: 119,350,041	Q1089L	possibly damaging	Het
Ccser1	A	T	6: 61,570,815	M49L	probably damaging	Het
Cep170	A	T	1: 176,774,505	V345E	probably benign	Het
Chaf1b	T	G	16: 93,891,571	Y185D	probably damaging	Het
Clasp1	C	T	1: 118,565,183	P1153S	probably benign	Het
Clvs2	A	T	10: 33,528,500	I240N	probably damaging	Het
Cox8c	A	T	12: 102,899,454	H30L	possibly damaging	Het
Crtac1	G	A	19: 42,283,567	L646F	unknown	Het
Cyp46a1	T	C	12: 108,355,471	S319P	probably damaging	Het
Dcdc5	G	A	2: 106,372,522		noncoding transcript	Het
Ddx4	T	C	13: 112,620,656	I377V	probably benign	Het
Dis3l	T	A	9: 64,317,794	N407I	possibly damaging	Het
Dysf	A	C	6: 84,064,494	T161P	probably damaging	Het
Ecsit	C	T	9: 22,076,540	V68I	possibly damaging	Het
Ei24	A	G	9: 36,782,339		probably null	Het
Fbxl19	A	T	7: 127,748,368	D32V	possibly damaging	Het
Fgd5	G	A	6: 91,988,945	V562M	possibly damaging	Het
Flnc	G	A	6: 29,438,666	W186*	probably null	Het
Frem2	A	G	3: 53,572,423	C1950R	probably damaging	Het
Fryl	T	C	5: 73,041,364	D2640G	possibly damaging	Het
Ganab	T	C	19: 8,909,468	V306A	probably damaging	Het
Gbx2	A	T	1: 89,930,637	V40D	probably damaging	Het
Gcc2	C	A	10: 58,269,680	T210K	probably benign	Het
Gcn1l1	T	A	5: 115,612,730	M1991K	probably damaging	Het
Gm6768	A	G	12: 119,262,838		noncoding transcript	Het
Gm8251	T	A	1: 44,056,460	H1826L	possibly damaging	Het
Gpr18	T	A	14: 121,912,605	T3S	probably benign	Het
Herc2	A	C	7: 56,137,271	K1621N	possibly damaging	Het
Hspg2	A	G	4: 137,522,043	E1300G	probably damaging	Het
Krtap19-5	C	T	16: 88,896,343	C27Y	unknown	Het
Lrrc3b	A	T	14: 15,358,076	L177M	probably damaging	Het
Mthfd1	T	C	12: 76,280,492	I118T	probably benign	Het
Nphp4	A	G	4: 152,557,043	K1094E	possibly damaging	Het
Npy1r	C	T	8: 66,704,059	L44F	possibly damaging	Het
Olfr433	C	A	1: 174,042,521	S190R	probably benign	Het
Pcx	C	A	19: 4,604,543	R328S	probably damaging	Het
Pde6a	T	C	18: 61,262,434	Y583H	probably damaging	Het
Plch2	A	T	4: 154,984,309	S1182T	probably damaging	Het
Pum1	A	T	4: 130,766,011	I696F	probably damaging	Het
Pxdn	T	C	12: 29,984,906	V254A	probably damaging	Het
Rcsd1	C	T	1: 165,659,429	A72T	probably benign	Het
Rsph4a	A	T	10: 33,911,599	I584L	probably benign	Het
Scamp5	A	G	9: 57,445,439	V149A	probably benign	Het
Sike1	A	G	3: 102,997,378	H134R	possibly damaging	Het
Slc12a9	A	G	5: 137,332,212	L77P	probably damaging	Het
Taar7f	G	A	10: 24,049,519	A4T	probably benign	Het
Thegl	T	C	5: 77,059,367	I324T	probably damaging	Het
Tmem216	T	A	19: 10,551,873	T104S	probably damaging	Het
Tpsg1	C	T	17: 25,374,042	R94C	probably damaging	Het
Utp20	A	T	10: 88,825,503		probably null	Het
Wdr35	A	G	12: 8,978,628	Q82R	probably benign	Het
Zfp12	A	G	5: 143,245,493	Y525C	probably damaging	Het
Zfp532	T	C	18: 65,624,712	V572A	probably damaging	Het
Zfyve26	T	A	12: 79,275,040	Q935L	probably damaging	Het

Other mutations in Pip5k1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02642:Pip5k1b	APN	19	24346367	missense	probably benign	0.00
R0109:Pip5k1b	UTSW	19	24379047	missense	probably benign
R0109:Pip5k1b	UTSW	19	24379047	missense	probably benign
R0726:Pip5k1b	UTSW	19	24378892	missense	probably damaging	0.99
R1737:Pip5k1b	UTSW	19	24397040	missense	probably damaging	1.00
R2211:Pip5k1b	UTSW	19	24378850	missense	probably damaging	1.00
R2281:Pip5k1b	UTSW	19	24378947	missense	probably damaging	1.00
R4703:Pip5k1b	UTSW	19	24355153	missense	probably damaging	1.00
R4953:Pip5k1b	UTSW	19	24390435	missense	probably damaging	1.00
R5341:Pip5k1b	UTSW	19	24304076	missense	probably benign	0.00
R5493:Pip5k1b	UTSW	19	24439075	missense	probably benign
R5514:Pip5k1b	UTSW	19	24350141	missense	probably damaging	0.99
R5908:Pip5k1b	UTSW	19	24397137	missense	possibly damaging	0.95
R6083:Pip5k1b	UTSW	19	24304035	nonsense	probably null
R6219:Pip5k1b	UTSW	19	24381823	missense	probably damaging	1.00
R7009:Pip5k1b	UTSW	19	24359935	splice site	probably null
R7097:Pip5k1b	UTSW	19	24358060	missense	probably damaging	1.00
R7167:Pip5k1b	UTSW	19	24397069	missense	probably benign
R7682:Pip5k1b	UTSW	19	24359979	missense	probably damaging	1.00
R7892:Pip5k1b	UTSW	19	24360093	missense	probably benign	0.01
R8121:Pip5k1b	UTSW	19	24359991	missense	probably damaging	1.00
R8314:Pip5k1b	UTSW	19	24355199	missense	probably benign	0.29

Predicted Primers

PCR Primer
(F):5'- AGGAAATCAGAGACATGCCC -3'
(R):5'- AACAGTGGACTTCCTTTGTTCAGTC -3'

Sequencing Primer
(F):5'- AGAGACATGCCCTTACCCGG -3'
(R):5'- ATGGGCTGTATTGCATGC -3'

Posted On

2014-10-16