Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02642:Pip5k1b'

301787

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pip5k1b

Ensembl Gene

ENSMUSG00000024867

Gene Name

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

Synonyms

Pipk5b

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.141) question?

Stock #

IGL02642

Quality Score

Status

Chromosome

Chromosomal Location

24294794-24555872 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 24346367 bp

Zygosity

Heterozygous

Amino Acid Change

Histidine to Asparagine at position 406 (H406N)

Ref Sequence

ENSEMBL: ENSMUSP00000108292 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000025800
AA Change: H458N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000025800
Gene: ENSMUSG00000024867
AA Change: H458N

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: H406N

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000108292
Gene: ENSMUSG00000024867
AA Change: H406N

Domain	Start	End	E-Value	Type
PIPKc	53	396	1.1e-159	SMART
low complexity region	420	432	N/A	INTRINSIC

Coding Region Coverage

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acadm	T	C	3: 153,939,083	D68G	probably damaging	Het
Aes	A	T	10: 81,561,292	Q34L	possibly damaging	Het
Amer3	A	G	1: 34,586,680		probably benign	Het
Ankrd11	A	G	8: 122,890,651	L2133P	probably damaging	Het
Bcdin3d	G	T	15: 99,470,792	H175Q	probably damaging	Het
Brd8	C	A	18: 34,608,064		probably benign	Het
C1rl	C	A	6: 124,493,847	T38N	possibly damaging	Het
Cd160	T	C	3: 96,800,611	T140A	probably benign	Het
Cdk16	T	G	X: 20,696,928	D381E	probably benign	Het
Cpq	G	A	15: 33,381,400	G303D	probably damaging	Het
Dmp1	T	C	5: 104,211,670	S71P	probably damaging	Het
Enc1	A	C	13: 97,245,534	D184A	possibly damaging	Het
Enkur	T	C	2: 21,194,387	D112G	probably benign	Het
Esrra	A	T	19: 6,912,850	V59E	possibly damaging	Het
F830016B08Rik	A	G	18: 60,299,986	N47S	probably benign	Het
Fads1	T	A	19: 10,186,421	V189D	probably damaging	Het
Fam160b1	A	G	19: 57,385,350	N681D	possibly damaging	Het
Fam167a	T	A	14: 63,452,272	I6N	probably damaging	Het
Fam98b	A	G	2: 117,260,312	T164A	probably benign	Het
Fryl	T	A	5: 73,095,466	I953L	probably benign	Het
Gm10610	T	A	7: 83,549,605		noncoding transcript	Het
Grik5	G	T	7: 25,058,983	N338K	possibly damaging	Het
Gstt2	A	G	10: 75,832,818	I72T	probably benign	Het
Gusb	T	C	5: 130,000,535		probably null	Het
Hccs	A	G	X: 169,315,592		probably benign	Het
Hoxb4	A	G	11: 96,320,224	K217E	probably damaging	Het
Hpd	C	T	5: 123,181,440	V22I	possibly damaging	Het
Ighv1-47	A	G	12: 114,991,224	Y79H	probably damaging	Het
Il7r	C	A	15: 9,513,047		probably benign	Het
Lama1	A	T	17: 67,812,366	M2613L	probably benign	Het
Lama2	G	A	10: 27,467,273	H68Y	probably damaging	Het
Lce1c	C	A	3: 92,680,538		probably benign	Het
Lmx1a	G	T	1: 167,844,623		probably benign	Het
Lrfn1	T	C	7: 28,458,688		probably benign	Het
Lrriq1	T	A	10: 103,221,461		probably null	Het
Mri1	A	T	8: 84,257,073	L63Q	probably damaging	Het
Mrps11	G	T	7: 78,788,774		probably null	Het
Mtif2	C	A	11: 29,544,395	Q666K	probably benign	Het
Mtr	A	T	13: 12,195,232		probably benign	Het
Mug1	A	G	6: 121,882,585	N1181S	probably benign	Het
Myom1	A	T	17: 71,101,098	E1209V	possibly damaging	Het
Nhsl1	A	G	10: 18,408,390	I26M	possibly damaging	Het
Nlrp1a	T	A	11: 71,123,532	K297N	probably benign	Het
Obox5	T	C	7: 15,758,047	V129A	probably benign	Het
Pex16	C	T	2: 92,376,636	A53V	probably damaging	Het
Pfpl	T	C	19: 12,429,743	F453L	probably damaging	Het
Pip5k1c	C	A	10: 81,317,321		probably null	Het
Plcxd3	T	C	15: 4,516,640	F42S	possibly damaging	Het
Pnpla7	T	C	2: 25,050,276	F1056L	probably benign	Het
Rapgef1	T	C	2: 29,700,860		probably benign	Het
Rdh11	G	A	12: 79,185,336		probably benign	Het
Serac1	A	G	17: 6,045,746	F576S	possibly damaging	Het
Slc45a4	A	T	15: 73,586,815	M295K	probably benign	Het
Taf1c	T	C	8: 119,599,057	T689A	probably benign	Het
Timm10b	G	T	7: 105,668,438		probably benign	Het
Tnc	A	T	4: 63,965,579		probably benign	Het
Toporsl	T	C	4: 52,611,114	W336R	probably benign	Het
Usp54	C	A	14: 20,565,072		probably benign	Het
Vmn1r233	T	C	17: 20,994,029	R220G	probably damaging	Het

Other mutations in Pip5k1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2015-04-16