Mutagenetix > Incidental Mutations

Incidental Mutation 'R5908:Pip5k1b'

460820

Institutional Source

Beutler Lab

Gene Symbol

Pip5k1b

Ensembl Gene

ENSMUSG00000024867

Gene Name

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

Synonyms

Pipk5b

MMRRC Submission

044105-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.105) question?

Stock #

R5908 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

24294794-24555872 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 24397137 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 27 (S27T)

Ref Sequence

ENSEMBL: ENSMUSP00000108292 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000025800
AA Change: S27T

PolyPhen 2 Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000025800
Gene: ENSMUSG00000024867
AA Change: S27T

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000112673
AA Change: S27T

PolyPhen 2 Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000108292
Gene: ENSMUSG00000024867
AA Change: S27T

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: ENSMUST00000156814

Coding Region Coverage

1x: 99.8%
3x: 99.4%
10x: 97.3%
20x: 91.8%

Validation Efficiency

97% (69/71)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933416C03Rik	A	T	10: 116,113,228	I131N	probably benign	Het
Abcc10	A	T	17: 46,313,804	L198H	probably damaging	Het
Anks1	C	T	17: 27,996,019	T480I	probably damaging	Het
Arhgef18	G	A	8: 3,453,165	R857Q	probably damaging	Het
B230208B08Rik	A	G	4: 78,214,060		noncoding transcript	Het
B9d2	T	A	7: 25,683,299	W33R	probably damaging	Het
Bcl2a1c	A	G	9: 114,330,504	T117A	probably benign	Het
Btbd8	T	G	5: 107,507,594	D574E	probably damaging	Het
C77080	A	G	4: 129,222,148	S908P	probably damaging	Het
Cabin1	A	G	10: 75,721,532	S1091P	probably damaging	Het
Clip3	C	A	7: 30,296,873	D64E	probably damaging	Het
Col6a5	C	G	9: 105,862,801	D2540H	possibly damaging	Het
Commd5	A	T	15: 76,900,936	M178L	probably benign	Het
Crtc3	T	A	7: 80,595,794	H361L	possibly damaging	Het
Dip2b	T	A	15: 100,151,184	L153Q	possibly damaging	Het
Eif2s1	T	A	12: 78,880,043	V189D	probably damaging	Het
Etl4	C	T	2: 20,743,907	A483V	probably damaging	Het
Foxo3	T	C	10: 42,196,587	I645V	probably benign	Het
Gm4841	A	G	18: 60,270,434	S196P	possibly damaging	Het
Hip1	A	G	5: 135,424,863		probably null	Het
Il1f5	G	T	2: 24,277,490		probably benign	Het
Ints2	A	G	11: 86,215,545		probably null	Het
Khnyn	A	G	14: 55,887,066	D259G	probably benign	Het
Lyst	T	A	13: 13,696,761	Y2694*	probably null	Het
Map4k2	T	C	19: 6,351,316		probably benign	Het
March10	C	T	11: 105,390,239	V407I	probably benign	Het
Mast4	C	A	13: 102,738,256	V1367F	probably damaging	Het
Mrgprb3	A	T	7: 48,643,618	S62T	probably damaging	Het
Mthfd1l	T	C	10: 4,089,392	F801S	probably damaging	Het
Notch2	T	C	3: 98,123,923		probably benign	Het
Nr2e1	T	C	10: 42,572,769	S158G	probably benign	Het
Nup214	A	G	2: 31,991,341	I404V	probably benign	Het
Olfr702	T	C	7: 106,824,197	T110A	probably benign	Het
Pik3c2g	G	A	6: 139,768,710	R196H	probably damaging	Het
Pik3r3	A	T	4: 116,272,758	D213V	probably benign	Het
Pkp1	G	A	1: 135,918,883	Q44*	probably null	Het
Pnmal2	C	T	7: 16,947,043	R651C	unknown	Het
Pnpt1	T	A	11: 29,130,887	S44T	probably benign	Het
Polb	A	T	8: 22,642,303		probably null	Het
Pom121l2	A	G	13: 21,981,814	N85S	probably damaging	Het
Prim1	A	G	10: 128,018,024	K104E	probably damaging	Het
Prl8a1	T	A	13: 27,574,057	Y223F	probably benign	Het
Rbak	T	G	5: 143,173,636	H554P	probably damaging	Het
Serpina3c	T	C	12: 104,151,711	R123G	probably benign	Het
Sh3bp4	T	G	1: 89,145,883	S818A	probably damaging	Het
Sh3rf3	C	G	10: 59,049,448	H384Q	probably benign	Het
Slc9a8	C	T	2: 167,451,170		probably benign	Het
Sptbn4	T	C	7: 27,404,253	E1181G	probably benign	Het
Taf2	G	A	15: 55,072,006		probably benign	Het
Tbc1d9	A	T	8: 83,249,545	M578L	probably benign	Het
Tinagl1	G	T	4: 130,172,970	Y111*	probably null	Het
Tor2a	T	C	2: 32,761,685	L304P	probably damaging	Het
Trp53bp1	A	G	2: 121,236,823	V474A	probably benign	Het
Trrap	C	A	5: 144,786,708	A325E	probably damaging	Het
Ube4a	A	G	9: 44,948,024		probably null	Het
Use1	G	C	8: 71,369,613	K239N	probably damaging	Het
Vps9d1	G	T	8: 123,246,824	Q407K	probably benign	Het
Zfp36l1	A	T	12: 80,109,675	S311T	possibly damaging	Het
Zfp729b	T	C	13: 67,591,255	K964E	probably benign	Het
Zfp974	T	A	7: 27,910,957	M448L	probably benign	Het
Zfyve28	A	T	5: 34,216,870	V600E	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
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
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'- TATTTCTATCCCGTGTGCAGG -3'
(R):5'- CCGTGTAAGAAGTCACCCAAGG -3'

Sequencing Primer
(F):5'- CTATCCCGTGTGCAGGGTTAAAAAG -3'
(R):5'- GGAGAAGGACCTTAACAGATTCTAC -3'

Posted On

2017-02-28