Mutagenetix > Incidental Mutations

Incidental Mutation 'R5493:Pip5k1b'

432214

Institutional Source

Beutler Lab

Gene Symbol

Pip5k1b

Ensembl Gene

ENSMUSG00000024867

Gene Name

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

Synonyms

Pipk5b

MMRRC Submission

043054-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.141) question?

Stock #

R5493 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

24294794-24555872 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 24439075 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 16 (N16S)

Ref Sequence

ENSEMBL: ENSMUSP00000108292 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000025800
AA Change: N16S

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

SMART Domains

Protein: ENSMUSP00000025800
Gene: ENSMUSG00000024867
AA Change: N16S

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

Predicted Effect

probably benign
Transcript: ENSMUST00000112673
AA Change: N16S

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

SMART Domains

Protein: ENSMUSP00000108292
Gene: ENSMUSG00000024867
AA Change: N16S

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145829

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156814

Meta Mutation Damage Score

0.0592

Coding Region Coverage

1x: 98.3%
3x: 97.3%
10x: 95.1%
20x: 90.4%

Validation Efficiency

99% (80/81)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2510009E07Rik	A	G	16: 21,653,243	S236P	possibly damaging	Het
A830018L16Rik	C	T	1: 11,545,207	R135C	probably damaging	Het
Agpat3	A	G	10: 78,284,235	V155A	possibly damaging	Het
Aldh18a1	C	T	19: 40,551,290	R747Q	probably damaging	Het
Aloxe3	A	T	11: 69,128,617	R119*	probably null	Het
Asap1	A	G	15: 64,130,151	V460A	possibly damaging	Het
Bicral	C	A	17: 46,801,694	R860L	possibly damaging	Het
Cd180	T	A	13: 102,706,141	I565N	probably benign	Het
Cdk13	T	C	13: 17,803,562		probably benign	Het
Cdkn2d	T	C	9: 21,289,007	D156G	probably benign	Het
Clrn1	A	G	3: 58,846,416	S175P	probably damaging	Het
Coro7	A	G	16: 4,632,487	L535S	probably damaging	Het
Cse1l	A	G	2: 166,941,190		probably benign	Het
Cyp2a12	T	C	7: 27,029,125	L7P	unknown	Het
D130043K22Rik	A	G	13: 24,863,603	Y377C	probably damaging	Het
Dctn1	G	T	6: 83,182,564	R8L	possibly damaging	Het
Duox2	T	C	2: 122,281,496	Q1341R	probably damaging	Het
Eif2b3	A	G	4: 117,086,722	D447G	possibly damaging	Het
Fbxw25	T	C	9: 109,652,916	Y234C	probably benign	Het
Gcnt2	A	G	13: 40,953,600	N315S	possibly damaging	Het
Gm20730	A	T	6: 43,081,812	V22E	possibly damaging	Het
Gm4847	T	A	1: 166,630,321	I488F	probably damaging	Het
Gm8994	C	G	6: 136,329,557	R339G	probably damaging	Het
Gmds	A	T	13: 31,940,505	M290K	probably benign	Het
Gtf3c1	T	C	7: 125,670,544	N699S	probably damaging	Het
Hk3	A	G	13: 55,011,171	V479A	probably damaging	Het
Ifnlr1	G	A	4: 135,705,566	V438M	probably benign	Het
Il12rb1	C	A	8: 70,809,839	P26T	probably benign	Het
Il4i1	G	T	7: 44,840,053	R414L	possibly damaging	Het
Ipo4	T	C	14: 55,630,870	N490S	probably benign	Het
Kcnmb2	A	G	3: 32,198,142	E164G	probably damaging	Het
Kcns1	G	A	2: 164,167,979	L287F	probably benign	Het
Kdm1a	ACC	AC	4: 136,557,421		probably null	Het
Klk14	G	A	7: 43,692,077	C51Y	probably damaging	Het
Knl1	T	A	2: 119,068,730	I304K	probably damaging	Het
Ksr2	G	T	5: 117,708,110	V681F	probably damaging	Het
Lypd2	T	C	15: 74,734,278	T4A	probably benign	Het
Man1a	A	G	10: 54,074,480	V182A	probably benign	Het
Olfr1364	A	T	13: 21,573,872	C195S	probably damaging	Het
Olfr504	T	C	7: 108,565,567	D76G	probably benign	Het
Olfr533	A	T	7: 140,466,807	D202V	probably damaging	Het
Olfr561	A	T	7: 102,775,108	R195W	probably benign	Het
Olfr70	A	G	4: 43,696,225	F316S	possibly damaging	Het
Pcdha2	C	A	18: 36,939,509	F64L	probably damaging	Het
Pgap3	G	C	11: 98,390,714	F168L	possibly damaging	Het
Ppip5k1	T	A	2: 121,336,772	H41L	probably damaging	Het
Ppp1r9a	A	G	6: 5,159,702	R1080G	probably damaging	Het
Qrich2	A	C	11: 116,445,948		probably null	Het
Rbl2	C	T	8: 91,115,819	P1034L	probably damaging	Het
Rbpjl	GCC	GC	2: 164,414,410		probably null	Het
Rin2	A	G	2: 145,860,709	S442G	probably damaging	Het
Rtca	C	T	3: 116,499,631	R71Q	probably benign	Het
Serpind1	A	T	16: 17,340,038	N366I	probably damaging	Het
Shox2	C	G	3: 66,981,463	G32R	probably damaging	Het
Sp3	T	A	2: 72,938,122	N766Y	probably damaging	Het
Spag7	T	A	11: 70,669,233	S17C	probably null	Het
Stk25	A	T	1: 93,635,309	F7I	probably benign	Het
Tbx15	G	A	3: 99,352,564	G584S	probably benign	Het
Tenm2	T	C	11: 36,864,676	D165G	probably benign	Het
Tox2	C	A	2: 163,204,729	S42*	probably null	Het
Vmn1r39	A	G	6: 66,804,770	V188A	probably damaging	Het
Zbtb5	A	T	4: 44,993,941	M481K	probably benign	Het
Zfp26	T	C	9: 20,444,319	T56A	possibly damaging	Het
Zfp459	C	A	13: 67,408,379	C195F	probably damaging	Het
Zfp703	C	T	8: 26,979,205	P299L	probably damaging	Het
Zfp764	A	G	7: 127,404,933	I342T	probably benign	Het
Zfp942	T	C	17: 21,933,004	N7D	probably null	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
R2280:Pip5k1b	UTSW	19	24378947	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
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
R7975:Pip5k1b	UTSW	19	24360093	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- GCGATTAAGGGTATGGCCTTC -3'
(R):5'- GGCGTACTCCGAATAAGAACTC -3'

Sequencing Primer
(F):5'- AGACTCGGGGAACTTTTAGTAACTG -3'
(R):5'- CTCCGAATAAGAACTCTTGGATTTTC -3'

Posted On

2016-10-05