Mutagenetix > Incidental Mutations

Incidental Mutation 'R1737:Pip5k1b'

199826

Institutional Source

Beutler Lab

Gene Symbol

Pip5k1b

Ensembl Gene

ENSMUSG00000024867

Gene Name

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

Synonyms

Pipk5b

MMRRC Submission

039769-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.103) question?

Stock #

R1737 (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 24397040 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 59 (V59E)

Ref Sequence

ENSEMBL: ENSMUSP00000108292 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000025800
AA Change: V59E

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000025800
Gene: ENSMUSG00000024867
AA Change: V59E

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: V59E

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000108292
Gene: ENSMUSG00000024867
AA Change: V59E

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

Meta Mutation Damage Score

0.3882

Coding Region Coverage

1x: 97.6%
3x: 96.9%
10x: 95.1%
20x: 91.4%

Validation Efficiency

100% (75/75)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts16	G	A	13: 70,779,518		probably benign	Het
Ak7	G	A	12: 105,742,332	V349M	probably damaging	Het
Aldh1a2	A	T	9: 71,285,171	E436V	possibly damaging	Het
Apc	C	A	18: 34,317,022	P2290T	probably damaging	Het
Atp10a	T	C	7: 58,827,238		probably benign	Het
Bahd1	T	C	2: 118,915,923	S8P	probably damaging	Het
BC049715	C	T	6: 136,840,308	P182L	probably damaging	Het
Capn10	T	C	1: 92,934,955	Y28H	probably benign	Het
Ccdc129	A	T	6: 55,968,304	D670V	probably damaging	Het
Cdh10	A	T	15: 18,964,063	I104F	probably damaging	Het
Cep170b	A	G	12: 112,736,627	D508G	possibly damaging	Het
Ces2a	G	T	8: 104,740,824	A494S	probably damaging	Het
Ces4a	G	A	8: 105,138,097	G69S	probably damaging	Het
Cltc	G	A	11: 86,733,727	T123M	probably damaging	Het
Cnot1	A	G	8: 95,748,276	S1102P	probably damaging	Het
Col12a1	C	A	9: 79,703,451	D224Y	probably damaging	Het
Col14a1	T	A	15: 55,344,961		probably benign	Het
Cyp7a1	T	A	4: 6,272,848	T122S	probably benign	Het
Dock4	A	G	12: 40,807,001		probably null	Het
Eid2	T	C	7: 28,268,499	V182A	possibly damaging	Het
Eloa	A	T	4: 136,010,770	V293D	probably benign	Het
Enkur	G	A	2: 21,194,295	P143S	probably damaging	Het
Ep300	T	C	15: 81,626,347	Y99H	probably damaging	Het
Fbxw5	C	A	2: 25,503,584	L66I	probably benign	Het
Flg2	A	T	3: 93,203,621	R985S	unknown	Het
Fscb	A	T	12: 64,474,581	I37K	possibly damaging	Het
H2-M10.3	T	C	17: 36,368,404	N3S	probably benign	Het
H2-Q7	A	C	17: 35,439,626	Y80S	probably damaging	Het
H60c	A	T	10: 3,259,914	D124E	possibly damaging	Het
Hsd3b2	A	T	3: 98,711,546	V361E	probably damaging	Het
Ice1	A	C	13: 70,606,325	C547W	probably damaging	Het
Jmy	A	G	13: 93,498,795	V171A	probably damaging	Het
Klf7	C	A	1: 64,079,213	R75L	possibly damaging	Het
Klk1b1	A	T	7: 43,970,359	Q114L	probably benign	Het
Krt10	A	G	11: 99,387,387	M280T	possibly damaging	Het
Lama1	G	A	17: 67,802,921	R2179Q	probably benign	Het
Mbd3l1	C	T	9: 18,484,929	P117S	possibly damaging	Het
Med18	A	T	4: 132,460,109	S71R	probably damaging	Het
Mov10l1	T	A	15: 89,011,404	I643N	possibly damaging	Het
Nfib	T	C	4: 82,498,589	K70E	probably damaging	Het
Nr3c2	A	C	8: 76,908,329	S20R	probably benign	Het
Nr6a1	A	T	2: 38,738,943	F356L	probably benign	Het
Oca2	G	A	7: 56,328,785	R567H	probably damaging	Het
Olfr370	A	G	8: 83,541,416	S91G	probably benign	Het
Olfr395	T	A	11: 73,907,085	M136L	possibly damaging	Het
Olfr59	T	C	11: 74,288,811	L55P	probably damaging	Het
Olfr794	T	A	10: 129,570,828	Y58N	probably damaging	Het
Olfr952	T	C	9: 39,426,958	T38A	probably damaging	Het
Pcdhb10	A	G	18: 37,412,956	T362A	probably benign	Het
Pkhd1l1	G	A	15: 44,547,509		probably null	Het
Prr36	T	C	8: 4,214,370		probably benign	Het
Ptger2	A	G	14: 45,001,771	T289A	probably benign	Het
Rad18	A	G	6: 112,681,537	F136L	probably damaging	Het
Rhbg	T	A	3: 88,245,874	S258C	probably damaging	Het
Scgb2b27	T	C	7: 34,013,314	I34M	possibly damaging	Het
Senp7	C	A	16: 56,123,799	T135K	probably damaging	Het
Slc20a2	A	G	8: 22,545,566	I193M	probably damaging	Het
Slc27a1	G	A	8: 71,570,860	V47I	probably benign	Het
Slc9a5	G	A	8: 105,368,134	V786M	probably damaging	Het
Smyd1	A	G	6: 71,216,891	L350P	probably damaging	Het
Ston2	A	T	12: 91,647,907	F576I	probably damaging	Het
Sulf2	A	T	2: 166,082,678	V496E	probably benign	Het
Tcl1b3	C	A	12: 105,191,222	S41Y	probably damaging	Het
Tulp2	A	T	7: 45,519,777	N256I	probably damaging	Het
Uspl1	T	A	5: 149,201,858	C349S	probably damaging	Het
Vcl	T	C	14: 21,020,536	I730T	probably damaging	Het
Vmn1r61	A	T	7: 5,611,061	F85I	probably benign	Het
Zfp318	A	G	17: 46,399,477	T709A	probably benign	Het
Zfr2	T	C	10: 81,242,085	S249P	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
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
R7682:Pip5k1b	UTSW	19	24359979	missense	probably damaging	1.00
R7892:Pip5k1b	UTSW	19	24360093	missense	probably benign	0.01
R7975:Pip5k1b	UTSW	19	24360093	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- ACAGAAAATGTAGGGCCATTCCCAG -3'
(R):5'- GAAAGTAGCCTCACCCTCCAGTTTG -3'

Sequencing Primer
(F):5'- CAATACCAAGGTGGAGCTGC -3'
(R):5'- TCCAGTTTGCTGCCTGTG -3'

Posted On

2014-05-23