Mutagenetix > Incidental Mutation

Incidental Mutation 'R9473:Pip5k1b'

715600

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

Essential gene?

Probably non essential (E-score: 0.104) question?

Stock #

R9473 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

24272158-24533236 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 24335590 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 351 (I351N)

Ref Sequence

ENSEMBL: ENSMUSP00000025800 (fasta)

Gene Model

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

AlphaFold

P70181

Predicted Effect

probably damaging
Transcript: ENSMUST00000025800
AA Change: I351N

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

SMART Domains

Protein: ENSMUSP00000025800
Gene: ENSMUSG00000024867
AA Change: I351N

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: I351N

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

SMART Domains

Protein: ENSMUSP00000108292
Gene: ENSMUSG00000024867
AA Change: I351N

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: 99.4%
20x: 97.6%

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700018F24Rik	C	T	5: 144,980,912 (GRCm39)	P107L	probably benign	Het
Abcc10	T	C	17: 46,617,609 (GRCm39)	N1142S	probably benign	Het
Accsl	T	C	2: 93,686,092 (GRCm39)	H575R	probably benign	Het
Adgra2	T	A	8: 27,610,943 (GRCm39)	L964Q	probably damaging	Het
Akap5	T	C	12: 76,376,632 (GRCm39)	L688P	probably damaging	Het
Anapc10	A	G	8: 80,501,673 (GRCm39)	N147S	probably damaging	Het
Atm	C	T	9: 53,410,272 (GRCm39)	E1059K	probably benign	Het
Bltp2	G	A	11: 78,174,983 (GRCm39)	R1706H	probably damaging	Het
Bmf	A	C	2: 118,363,104 (GRCm39)	F251V	probably benign	Het
Capn3	G	T	2: 120,326,535 (GRCm39)	E576*	probably null	Het
Capns2	T	C	8: 93,628,854 (GRCm39)	*248R	probably null	Het
Ceacam13	G	T	7: 17,747,281 (GRCm39)	V245L	probably benign	Het
Clcn3	T	C	8: 61,407,651 (GRCm39)	D2G	probably benign	Het
Dcstamp	G	A	15: 39,617,972 (GRCm39)	C127Y	probably damaging	Het
Dnmt3l	C	T	10: 77,886,022 (GRCm39)	Q36*	probably null	Het
Dpys	A	G	15: 39,687,583 (GRCm39)	I405T	possibly damaging	Het
Duoxa1	A	G	2: 122,134,326 (GRCm39)	I309T	probably benign	Het
Eif2b1	G	A	5: 124,712,677 (GRCm39)	Q156*	probably null	Het
Eif3l	T	A	15: 78,970,704 (GRCm39)	M326K	probably damaging	Het
Fbxl13	T	C	5: 21,790,243 (GRCm39)	N267D	possibly damaging	Het
Fip1l1	C	T	5: 74,745,719 (GRCm39)	T372I	probably damaging	Het
Galt	A	G	4: 41,757,575 (GRCm39)	N249S	probably benign	Het
Gm17324	G	T	9: 78,355,839 (GRCm39)	R47S	unknown	Het
Gm45871	T	G	18: 90,609,093 (GRCm39)	D110E	probably benign	Het
Gtf2ird1	T	A	5: 134,433,534 (GRCm39)	T298S	probably benign	Het
Ighv7-4	T	C	12: 114,186,722 (GRCm39)	I17V	probably benign	Het
Krt7	C	T	15: 101,318,409 (GRCm39)	R299W	probably damaging	Het
Macc1	A	G	12: 119,297,990 (GRCm39)		probably benign	Het
Mturn	G	A	6: 54,666,009 (GRCm39)	E61K	probably benign	Het
Nol11	T	C	11: 107,075,581 (GRCm39)	D149G	probably null	Het
Nr4a3	A	T	4: 48,052,143 (GRCm39)	N299I	probably damaging	Het
Plce1	G	A	19: 38,766,337 (GRCm39)	E2121K	possibly damaging	Het
Pramel11	T	G	4: 143,620,815 (GRCm39)	T468P	probably benign	Het
Rdh19	A	G	10: 127,696,177 (GRCm39)	T310A	probably benign	Het
Rflnb	T	A	11: 75,913,064 (GRCm39)	Y108F	probably damaging	Het
Rfx1	A	T	8: 84,819,903 (GRCm39)	I713F	probably damaging	Het
Saxo5	G	A	8: 3,529,232 (GRCm39)	C239Y	probably benign	Het
Scgn	T	C	13: 24,143,731 (GRCm39)		probably null	Het
Serpina1d	T	C	12: 103,729,939 (GRCm39)	*414W	probably null	Het
Slc18a3	T	C	14: 32,185,913 (GRCm39)	I157V	probably benign	Het
Steap1	T	C	5: 5,790,378 (GRCm39)	Y190C	probably damaging	Het
Svep1	A	G	4: 58,064,243 (GRCm39)	S3247P	probably benign	Het
Syne1	T	C	10: 5,198,258 (GRCm39)	I3778V	probably benign	Het
Tas2r114	T	C	6: 131,666,104 (GRCm39)	D308G	probably benign	Het
Tpm2	A	T	4: 43,514,813 (GRCm39)	L274*	probably null	Het
Ttc39b	A	G	4: 83,181,977 (GRCm39)	F81L	possibly damaging	Het
Ttn	A	G	2: 76,547,338 (GRCm39)	V32236A	probably damaging	Het
Ubr5	A	G	15: 38,002,617 (GRCm39)	V1472A		Het
Ugt2b1	A	T	5: 87,065,539 (GRCm39)	V500D	possibly damaging	Het
Vpreb1b	G	A	16: 17,798,565 (GRCm39)	C17Y	probably benign	Het
Wscd1	A	G	11: 71,679,644 (GRCm39)	N506D	probably damaging	Het

Other mutations in Pip5k1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02642:Pip5k1b	APN	19	24,323,731 (GRCm39)	missense	probably benign	0.00
R0109:Pip5k1b	UTSW	19	24,356,411 (GRCm39)	missense	probably benign
R0109:Pip5k1b	UTSW	19	24,356,411 (GRCm39)	missense	probably benign
R0726:Pip5k1b	UTSW	19	24,356,256 (GRCm39)	missense	probably damaging	0.99
R1737:Pip5k1b	UTSW	19	24,374,404 (GRCm39)	missense	probably damaging	1.00
R2211:Pip5k1b	UTSW	19	24,356,214 (GRCm39)	missense	probably damaging	1.00
R2280:Pip5k1b	UTSW	19	24,356,311 (GRCm39)	missense	probably damaging	1.00
R2281:Pip5k1b	UTSW	19	24,356,311 (GRCm39)	missense	probably damaging	1.00
R4703:Pip5k1b	UTSW	19	24,332,517 (GRCm39)	missense	probably damaging	1.00
R4953:Pip5k1b	UTSW	19	24,367,799 (GRCm39)	missense	probably damaging	1.00
R5341:Pip5k1b	UTSW	19	24,281,440 (GRCm39)	missense	probably benign	0.00
R5493:Pip5k1b	UTSW	19	24,416,439 (GRCm39)	missense	probably benign
R5514:Pip5k1b	UTSW	19	24,327,505 (GRCm39)	missense	probably damaging	0.99
R5908:Pip5k1b	UTSW	19	24,374,501 (GRCm39)	missense	possibly damaging	0.95
R6083:Pip5k1b	UTSW	19	24,281,399 (GRCm39)	nonsense	probably null
R6219:Pip5k1b	UTSW	19	24,359,187 (GRCm39)	missense	probably damaging	1.00
R7009:Pip5k1b	UTSW	19	24,337,299 (GRCm39)	splice site	probably null
R7097:Pip5k1b	UTSW	19	24,335,424 (GRCm39)	missense	probably damaging	1.00
R7167:Pip5k1b	UTSW	19	24,374,433 (GRCm39)	missense	probably benign
R7682:Pip5k1b	UTSW	19	24,337,343 (GRCm39)	missense	probably damaging	1.00
R7892:Pip5k1b	UTSW	19	24,337,457 (GRCm39)	missense	probably benign	0.01
R8121:Pip5k1b	UTSW	19	24,337,355 (GRCm39)	missense	probably damaging	1.00
R8314:Pip5k1b	UTSW	19	24,332,563 (GRCm39)	missense	probably benign	0.29
R8865:Pip5k1b	UTSW	19	24,374,422 (GRCm39)	missense	probably damaging	1.00
R9020:Pip5k1b	UTSW	19	24,327,585 (GRCm39)	missense	probably benign	0.00
R9283:Pip5k1b	UTSW	19	24,337,376 (GRCm39)	missense	probably damaging	1.00
R9375:Pip5k1b	UTSW	19	24,416,442 (GRCm39)	missense	probably benign	0.02
R9380:Pip5k1b	UTSW	19	24,356,417 (GRCm39)	missense	probably damaging	1.00
R9418:Pip5k1b	UTSW	19	24,327,581 (GRCm39)	missense	probably benign	0.24
R9549:Pip5k1b	UTSW	19	24,356,413 (GRCm39)	missense	probably damaging	1.00
R9682:Pip5k1b	UTSW	19	24,356,318 (GRCm39)	missense	probably damaging	1.00
R9700:Pip5k1b	UTSW	19	24,281,460 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GGCTTTCCAGGAATGTTCTAACTTC -3'
(R):5'- ACAGCTCTGGAGTCATTATCCG -3'

Sequencing Primer
(F):5'- AACTGTCCTCATTCGGTA -3'
(R):5'- GCTCTGGAGTCATTATCCGTTAAAG -3'

Posted On

2022-06-15