Mutagenetix > Incidental Mutations

Incidental Mutation 'R7097:Pip5k1b'

550598

Institutional Source

Beutler Lab

Gene Symbol

Pip5k1b

Ensembl Gene

ENSMUSG00000024867

Gene Name

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

Synonyms

Pipk5b

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.119) question?

Stock #

R7097 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

24294794-24555872 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 24358060 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 362 (E362D)

Ref Sequence

ENSEMBL: ENSMUSP00000025800 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000025800
AA Change: E362D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000025800
Gene: ENSMUSG00000024867
AA Change: E362D

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: E362D

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

SMART Domains

Protein: ENSMUSP00000108292
Gene: ENSMUSG00000024867
AA Change: E362D

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

Meta Mutation Damage Score

0.6975

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

99% (75/76)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010I14Rik	A	G	17: 9,005,220	N435S	probably damaging	Het
Aip	A	T	19: 4,115,381	V195E	probably benign	Het
Amer3	A	T	1: 34,588,788	I703F	probably benign	Het
Amfr	T	C	8: 94,012,009	E7G	probably benign	Het
Angel1	A	G	12: 86,726,384	S4P	probably damaging	Het
Atp2c1	A	G	9: 105,464,651	I146T	probably damaging	Het
Atp6v0e	A	G	17: 26,695,416	T72A	probably benign	Het
Bahcc1	T	C	11: 120,272,646	V590A	possibly damaging	Het
Bcl6	A	G	16: 23,972,614	V330A	possibly damaging	Het
Bcl6	T	C	16: 23,972,902	D234G	probably damaging	Het
Btaf1	C	T	19: 36,949,102	T58I	probably damaging	Het
Ccdc175	A	T	12: 72,128,409		probably null	Het
Cdca4	C	A	12: 112,821,569	V180L	probably benign	Het
Ces1g	C	A	8: 93,317,037	G425C	possibly damaging	Het
Chl1	T	C	6: 103,706,448	L745P	probably damaging	Het
Clec4g	T	A	8: 3,719,518	T42S	possibly damaging	Het
Ctsg	A	C	14: 56,100,032	I238S	probably damaging	Het
Cyb5rl	A	T	4: 107,087,316	E41V	unknown	Het
Dcdc2a	A	G	13: 25,107,698	E222G	probably benign	Het
Dnaaf1	G	T	8: 119,596,799	G509V	possibly damaging	Het
Dnah5	A	G	15: 28,453,264	I4394V	probably benign	Het
Dot1l	T	G	10: 80,790,726	S1260R	probably damaging	Het
Dst	T	G	1: 34,169,260	I1089S	probably damaging	Het
Eps8l3	A	G	3: 107,884,485		probably null	Het
Fam135b	A	G	15: 71,622,068	V4A	possibly damaging	Het
Fnip2	T	C	3: 79,481,006	E806G	probably benign	Het
Fryl	T	A	5: 73,073,908	I1609F	probably benign	Het
Gdi1	G	A	X: 74,306,855	R55H	probably benign	Het
Gm11639	A	T	11: 105,008,961	I4350F	possibly damaging	Het
Gsn	A	T	2: 35,295,049	K339*	probably null	Het
Hecw2	T	A	1: 53,865,124	Y1155F	possibly damaging	Het
Kif20b	T	A	19: 34,974,492	N1723K	probably damaging	Het
Kif2b	T	C	11: 91,576,824	D211G	probably benign	Het
Lhfpl4	C	T	6: 113,176,671	V140I	probably benign	Het
Med16	C	T	10: 79,903,343	G203D	probably damaging	Het
Mrgpra3	T	A	7: 47,589,641	Y179F	probably benign	Het
Muc6	AGGCGCAGAAACCCTGGC	AGGC	7: 141,634,450		probably null	Het
Myo18b	A	G	5: 112,874,405	S374P	unknown	Het
Myoz1	A	G	14: 20,649,409	I287T	possibly damaging	Het
Ncoa6	T	C	2: 155,438,063	D11G	probably benign	Het
Nlrp9c	A	G	7: 26,385,621	Y178H	probably damaging	Het
Nmur1	T	C	1: 86,387,508	T212A	probably damaging	Het
Oacyl	A	G	18: 65,720,252	D143G	probably benign	Het
Obox5	A	G	7: 15,758,807	Y229C	probably damaging	Het
Olfr340	A	G	2: 36,452,690	Y35C	probably damaging	Het
Olfr347	G	T	2: 36,734,424	M34I	probably benign	Het
Olfr54	C	A	11: 51,027,601	L200I	probably benign	Het
Olfr891	A	T	9: 38,180,336	C162*	probably null	Het
Olfr934	A	T	9: 38,982,618	M142K	probably benign	Het
Pcdhb17	A	C	18: 37,486,513	N452T	probably benign	Het
Pear1	T	G	3: 87,751,445	H901P	probably benign	Het
Pi16	A	G	17: 29,326,339	Y192C	probably damaging	Het
Pla2g5	T	C	4: 138,804,519	D58G	probably damaging	Het
Pole	T	A	5: 110,325,102		probably null	Het
Prdm16	G	T	4: 154,345,468	T348K	probably damaging	Het
Prkdc	T	A	16: 15,689,343	F896I	probably damaging	Het
Prmt7	T	C	8: 106,235,100	F215S	unknown	Het
Prss23	T	A	7: 89,510,184	T226S	probably damaging	Het
Ptpn14	G	A	1: 189,863,398	W739*	probably null	Het
Rfx5	G	T	3: 94,956,539	G135C	probably damaging	Het
Scmh1	A	G	4: 120,525,055	H573R	probably benign	Het
Serpina5	G	T	12: 104,102,295		probably null	Het
Sh3rf2	G	A	18: 42,104,162		probably null	Het
Slc38a2	T	C	15: 96,693,301	M229V	probably damaging	Het
Slc6a17	C	G	3: 107,493,148	G222R	probably damaging	Het
Sp110	C	T	1: 85,579,685	G367D	possibly damaging	Het
Srcap	C	A	7: 127,539,041	L1128M	probably damaging	Het
Tmem189	C	G	2: 167,661,478	A7P	probably benign	Het
Tpra1	T	A	6: 88,908,294	I76N	probably damaging	Het
Trav6-4	A	T	14: 53,454,592	Y52F	probably benign	Het
Trp63	C	A	16: 25,820,477	H138Q	probably damaging	Het
Trub2	A	G	2: 29,779,826	V177A	possibly damaging	Het
Ugt2a2	T	C	5: 87,460,396	D528G	possibly damaging	Het
Wnk2	C	A	13: 49,102,838	R269L	possibly damaging	Het
Zc3h12c	T	A	9: 52,115,926	Q731L	possibly 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
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
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
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'- ATGTGGTCTCGTTCTCAGACTC -3'
(R):5'- GGAGGCATTCCAGCTAAAAGC -3'

Sequencing Primer
(F):5'- GGTCTCGTTCTCAGACTCAAACC -3'
(R):5'- AAGCTGCTTCTATTCATGGGC -3'

Posted On

2019-05-15