Mutagenetix > Incidental Mutation

Incidental Mutation 'R7892:Pip5k1b'

609414

Institutional Source

Beutler Lab

Gene Symbol

Pip5k1b

Ensembl Gene

ENSMUSG00000024867

Gene Name

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

Synonyms

Pipk5b

MMRRC Submission

045944-MU

Accession Numbers

Essential gene?

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

Stock #

R7892 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

24272158-24533236 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 24337457 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 277 (D277G)

Ref Sequence

ENSEMBL: ENSMUSP00000025800 (fasta)

Gene Model

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

AlphaFold

P70181

Predicted Effect

probably benign
Transcript: ENSMUST00000025800
AA Change: D277G

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000025800
Gene: ENSMUSG00000024867
AA Change: D277G

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: D277G

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000108292
Gene: ENSMUSG00000024867
AA Change: D277G

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

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630010A05Rik	A	G	16: 14,436,349 (GRCm39)	E134G		Het
Acsm4	G	A	7: 119,293,889 (GRCm39)	V87M	possibly damaging	Het
Adamts3	T	C	5: 90,009,288 (GRCm39)	N125S	probably benign	Het
Arhgef4	A	G	1: 34,760,885 (GRCm39)	E47G	unknown	Het
C1ra	A	G	6: 124,496,374 (GRCm39)	M367V	probably benign	Het
Ces2b	T	C	8: 105,559,385 (GRCm39)	W84R	probably damaging	Het
Clca3a1	T	C	3: 144,436,579 (GRCm39)	T835A	probably benign	Het
Cmya5	T	C	13: 93,232,865 (GRCm39)	E741G	probably damaging	Het
Cspg4b	C	T	13: 113,456,140 (GRCm39)	R729C		Het
D330020A13Rik	T	C	6: 120,271,819 (GRCm39)	L165P	unknown	Het
Dtnbp1	A	T	13: 45,075,765 (GRCm39)	L326*	probably null	Het
Ecpas	T	C	4: 58,828,593 (GRCm39)	I947V	probably benign	Het
Fat4	A	T	3: 39,003,588 (GRCm39)		probably null	Het
Fbxl9	A	T	8: 106,042,165 (GRCm39)	I221N	possibly damaging	Het
Fuom	T	A	7: 139,679,492 (GRCm39)	I143F	unknown	Het
Gm14444	A	T	2: 174,858,524 (GRCm39)	M33L	probably damaging	Het
Hmcn1	T	C	1: 150,540,643 (GRCm39)	T2889A	probably benign	Het
Kif5b	G	A	18: 6,212,517 (GRCm39)	T769M	probably benign	Het
Kif9	G	A	9: 110,343,682 (GRCm39)	R567H	not run	Het
Kmt2c	A	T	5: 25,504,814 (GRCm39)	M3498K	probably benign	Het
Ly6e	T	A	15: 74,829,700 (GRCm39)	L15*	probably null	Het
Malt1	G	A	18: 65,597,187 (GRCm39)		probably null	Het
Msantd5	G	A	11: 51,125,613 (GRCm39)	E179K	possibly damaging	Het
Mylk	G	C	16: 34,699,894 (GRCm39)	S419T	probably benign	Het
Oacyl	T	C	18: 65,870,918 (GRCm39)	L373P	probably benign	Het
Or10d1	A	C	9: 39,483,845 (GRCm39)	S237A	possibly damaging	Het
Or4b1d	T	C	2: 89,968,836 (GRCm39)	I216V	probably benign	Het
Or5b116	T	A	19: 13,422,662 (GRCm39)	C95*	probably null	Het
Or5b21	C	T	19: 12,839,843 (GRCm39)	R235*	probably null	Het
Pcdh20	A	T	14: 88,704,867 (GRCm39)	L811*	probably null	Het
Pgrmc2	A	T	3: 41,037,415 (GRCm39)	D5E	probably damaging	Het
Pign	A	C	1: 105,585,401 (GRCm39)	F49L	probably benign	Het
Ppm1m	A	G	9: 106,075,895 (GRCm39)	V11A	probably benign	Het
Prl7a1	A	T	13: 27,817,661 (GRCm39)	V201E	not run	Het
Samhd1	A	G	2: 156,958,415 (GRCm39)	S269P	probably damaging	Het
Sik2	A	G	9: 50,920,132 (GRCm39)	V15A	probably damaging	Het
Slc4a7	G	A	14: 14,773,348 (GRCm38)	E773K	probably benign	Het
Sntg1	T	C	1: 8,853,024 (GRCm39)	D42G	probably damaging	Het
Speg	A	T	1: 75,403,810 (GRCm39)	N2664Y	probably damaging	Het
Tcstv1b	G	T	13: 120,634,695 (GRCm39)		probably benign	Het
Treh	A	G	9: 44,596,015 (GRCm39)	Y435C	probably damaging	Het
Trim59	A	G	3: 68,945,140 (GRCm39)	S67P	probably benign	Het
Trim68	A	T	7: 102,328,004 (GRCm39)	C309S	unknown	Het
Tubb4a	G	T	17: 57,387,880 (GRCm39)	S382*	probably null	Het
Vmn2r15	A	T	5: 109,434,217 (GRCm39)	I829N	probably damaging	Het
Vmn2r68	T	C	7: 84,883,722 (GRCm39)	T128A	probably benign	Het
Vmn2r70	T	A	7: 85,208,588 (GRCm39)	I630L	possibly damaging	Het
Zc3hav1	A	G	6: 38,306,156 (GRCm39)	I632T	probably benign	Het
Zfp558	A	G	9: 18,379,993 (GRCm39)	S13P	possibly 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
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
R9473:Pip5k1b	UTSW	19	24,335,590 (GRCm39)	missense	probably damaging	1.00
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'- CCAGAGTGCCATAAGGTGATTGG -3'
(R):5'- CTATGTGCCTCTCAGTGGAC -3'

Sequencing Primer
(F):5'- ATTAACTACTGAGTGACTGGGGTACC -3'
(R):5'- CCTCTCAGTGGACAGGGTGTG -3'

Posted On

2019-12-20