Mutagenetix > Incidental Mutations

Incidental Mutation 'R7682:Pip5k1b'

592851

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: 0.108) question?

Stock #

R7682 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

24294794-24555872 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 24359979 bp

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 315 (G315D)

Ref Sequence

ENSEMBL: ENSMUSP00000025800 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000025800
AA Change: G315D

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000025800
Gene: ENSMUSG00000024867
AA Change: G315D

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: G315D

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000108292
Gene: ENSMUSG00000024867
AA Change: G315D

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (62/62)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310034C09Rik	T	A	16: 88,759,485	S196T	probably benign	Het
Abcc5	T	C	16: 20,368,053	D977G	probably damaging	Het
Acot2	T	C	12: 83,987,924	V8A	probably benign	Het
Adamts9	T	A	6: 92,880,698	I870F	possibly damaging	Het
Adgrl3	G	A	5: 81,794,560	V1414I	probably damaging	Het
Aggf1	T	C	13: 95,368,426	K275R	probably benign	Het
Alpk1	T	C	3: 127,672,546	I1104V	possibly damaging	Het
Angptl7	A	T	4: 148,498,082	I119N	probably damaging	Het
Ank3	A	T	10: 69,988,235	E129D	possibly damaging	Het
Brca2	T	A	5: 150,543,153	H2127Q	probably benign	Het
Brd4	A	G	17: 32,201,160	F1008S	unknown	Het
Car2	T	C	3: 14,887,965	S56P	probably damaging	Het
Casp3	A	G	8: 46,632,385	Y41C	probably benign	Het
Ces4a	A	T	8: 105,146,665	T381S	probably benign	Het
Clstn1	A	G	4: 149,626,101	T77A	possibly damaging	Het
Cul7	G	T	17: 46,655,595	V615L	probably benign	Het
Dnpep	A	G	1: 75,316,740	F24L	probably damaging	Het
Emsy	G	A	7: 98,590,698	R1263W	probably damaging	Het
Fam124b	A	T	1: 80,213,565	C34S	possibly damaging	Het
Fan1	C	A	7: 64,372,764	G247V	probably benign	Het
Glipr1l3	T	G	10: 112,141,872	H218P	probably benign	Het
Gm11639	T	A	11: 104,964,348		probably null	Het
Gm13084	A	G	4: 143,810,720	L347S	probably benign	Het
Gm14305	T	A	2: 176,720,910	S198R	probably benign	Het
Gm14326	T	C	2: 177,948,481	Y29C	probably damaging	Het
Gm45713	C	T	7: 45,134,002	V147I	probably benign	Het
Gpr149	C	T	3: 62,530,739	D666N	probably damaging	Het
Gpr183	A	G	14: 121,954,740	I123T	possibly damaging	Het
Il7r	A	T	15: 9,512,927	H165Q	probably damaging	Het
Krt73	A	G	15: 101,802,045	F85L	probably benign	Het
Lrrc29	C	A	8: 105,315,284	R304L	possibly damaging	Het
Lrrc8d	A	G	5: 105,812,791	T356A	probably damaging	Het
Marco	A	G	1: 120,494,042		probably null	Het
Mettl14	T	A	3: 123,383,604	E49D	possibly damaging	Het
Mrap	T	A	16: 90,749,222		probably null	Het
Mrps34	C	T	17: 24,895,878	A152V	probably benign	Het
Nfasc	T	A	1: 132,573,773	Y1163F	unknown	Het
Nfic	T	C	10: 81,420,500	D110G	probably damaging	Het
Nip7	T	C	8: 107,057,119	V28A	possibly damaging	Het
Odam	T	C	5: 87,892,428	F251S	possibly damaging	Het
Olfm5	T	A	7: 104,161,772	Q53L	probably null	Het
P2ry13	T	G	3: 59,210,124	M78L	probably benign	Het
Pacs1	T	C	19: 5,152,699	E385G	probably damaging	Het
Pla2g4a	C	A	1: 149,886,271	R145L	probably damaging	Het
Rars	T	C	11: 35,828,752	Q81R	probably benign	Het
Rassf7	A	G	7: 141,217,934	N296D	probably damaging	Het
Rcsd1	C	T	1: 165,657,693	A94T	probably benign	Het
Rgs8	T	C	1: 153,690,922	F73S	probably damaging	Het
Rilpl2	A	C	5: 124,477,980	Y36D	probably damaging	Het
Rpl10l	A	G	12: 66,284,230	V43A	probably benign	Het
Sesn2	T	C	4: 132,496,889	I403V	probably damaging	Het
Slc10a4	C	T	5: 73,007,110	S15L	unknown	Het
Slc7a5	T	C	8: 121,907,140	Y156C	probably damaging	Het
Spata18	A	G	5: 73,668,665	H105R		Het
Specc1l	A	G	10: 75,245,802	D344G	probably damaging	Het
Syne1	A	G	10: 5,162,461	V415A	probably benign	Het
Thbs4	T	G	13: 92,775,562	D220A	probably benign	Het
Tmco5	T	C	2: 116,886,271	S152P	probably benign	Het
Tmem35b	A	T	4: 127,128,941	D125V	probably damaging	Het
Trim17	A	G	11: 58,966,808	E155G	possibly damaging	Het
Vmn2r11	A	C	5: 109,047,615	V615G	probably benign	Het
Vmn2r88	A	T	14: 51,418,449	Q705L		Het
Vmn2r93	A	G	17: 18,305,321	R414G	probably benign	Het
Xirp2	T	C	2: 67,508,849	L478P	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
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
R7097:Pip5k1b	UTSW	19	24358060	missense	probably damaging	1.00
R7167:Pip5k1b	UTSW	19	24397069	missense	probably benign
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'- ACCACACCTCTAGTCCTTAGGG -3'
(R):5'- TTTGAGTTGACTGACCTCCTGG -3'

Sequencing Primer
(F):5'- GTGCCATAAGGTGATTGG -3'
(R):5'- CCTTCTGCAGGTTCTGGAAAGC -3'

Posted On

2019-11-12