Mutagenetix > Incidental Mutations

Incidental Mutation 'R0109:Pip5k1a'

17711

Institutional Source

Beutler Lab

Gene Symbol

Pip5k1a

Ensembl Gene

ENSMUSG00000028126

Gene Name

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

Synonyms

Pipk5a

MMRRC Submission

038395-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0109 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

95058530-95106930 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 95065442 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 433 (T433A)

Ref Sequence

ENSEMBL: ENSMUSP00000102855 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000005768] [ENSMUST00000107232] [ENSMUST00000107233] [ENSMUST00000107236]

Predicted Effect

probably benign
Transcript: ENSMUST00000005768
AA Change: T432A

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000005768
Gene: ENSMUSG00000028126
AA Change: T432A

Domain	Start	End	E-Value	Type
low complexity region	2	15	N/A	INTRINSIC
PIPKc	93	434	2.79e-184	SMART
low complexity region	447	461	N/A	INTRINSIC
low complexity region	508	523	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000107232
AA Change: T432A

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

SMART Domains

Protein: ENSMUSP00000102851
Gene: ENSMUSG00000028126
AA Change: T432A

Domain	Start	End	E-Value	Type
low complexity region	2	15	N/A	INTRINSIC
PIPKc	93	434	2.79e-184	SMART
low complexity region	460	475	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000107233
AA Change: T434A

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000102852
Gene: ENSMUSG00000028126
AA Change: T434A

Domain	Start	End	E-Value	Type
low complexity region	2	15	N/A	INTRINSIC
low complexity region	18	30	N/A	INTRINSIC
PIPKc	95	436	2.79e-184	SMART
low complexity region	449	463	N/A	INTRINSIC
low complexity region	510	525	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000107236
AA Change: T433A

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000102855
Gene: ENSMUSG00000028126
AA Change: T433A

Domain	Start	End	E-Value	Type
low complexity region	2	15	N/A	INTRINSIC
low complexity region	18	29	N/A	INTRINSIC
PIPKc	94	435	2.79e-184	SMART
low complexity region	448	462	N/A	INTRINSIC
low complexity region	509	524	N/A	INTRINSIC

Meta Mutation Damage Score

0.0650

Coding Region Coverage

1x: 90.6%
3x: 88.5%
10x: 83.8%
20x: 77.5%

Validation Efficiency

90% (95/106)

MGI Phenotype

PHENOTYPE: A gene trap insertion into an intron of this gene results in no obvious phenotype. Mice homozygous for a knock-out allele exhibit partial lethality and reduced male fertility associated with asthenozoospermia and abnormal midpiece morphology. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	C	A	6: 121,659,303	H710Q	probably benign	Het
Abca14	A	T	7: 120,318,762	K1496*	probably null	Het
Anapc1	C	A	2: 128,634,693	R1335L	probably damaging	Het
Arhgef10l	A	T	4: 140,578,294	S203T	probably benign	Het
Astn1	C	T	1: 158,664,104	T41I	possibly damaging	Het
Atrnl1	T	A	19: 57,755,517	Y1184N	possibly damaging	Het
Avil	A	G	10: 127,013,644	N603S	probably benign	Het
Brca1	T	C	11: 101,531,090	D149G	possibly damaging	Het
Car14	C	A	3: 95,899,451	A234S	probably benign	Het
Cep164	A	C	9: 45,771,587	L935R	probably damaging	Het
Cps1	T	C	1: 67,229,418	V1435A	possibly damaging	Het
Csmd2	T	G	4: 128,544,743	S3038R	probably benign	Het
Cyp2j6	A	T	4: 96,518,157	I459N	probably damaging	Het
Cyth1	T	C	11: 118,182,306	E242G	probably damaging	Het
Dclk3	T	G	9: 111,467,670	L94R	possibly damaging	Het
Disp2	T	C	2: 118,791,816	S1010P	probably damaging	Het
Dlec1	G	A	9: 119,105,824	R145H	probably damaging	Het
Dsg3	T	C	18: 20,540,134	V954A	probably damaging	Het
Dync2h1	T	A	9: 7,111,487	D309V	probably damaging	Het
Fam13b	A	G	18: 34,451,308	I601T	probably benign	Het
Fgd5	T	A	6: 91,988,235	M325K	possibly damaging	Het
Frmpd1	A	T	4: 45,279,340	E688D	probably benign	Het
Gabrb1	C	T	5: 72,121,946		probably benign	Het
Gm10130	A	T	2: 150,323,841		probably benign	Het
Gm6590	A	T	6: 130,484,906		noncoding transcript	Het
Gse1	T	A	8: 120,567,785	S284T	probably damaging	Het
Ipo13	C	T	4: 117,905,016	R387Q	possibly damaging	Het
Kctd16	A	G	18: 40,259,151	E264G	probably benign	Het
Krt73	A	T	15: 101,796,395	L352*	probably null	Het
Mapk15	A	T	15: 75,996,077	K153*	probably null	Het
Mcemp1	C	A	8: 3,667,055	Y65*	probably null	Het
Mcoln2	C	G	3: 146,175,718	R210G	probably damaging	Het
Miox	G	A	15: 89,335,581	V91I	probably benign	Het
Myh7b	A	G	2: 155,611,674	E6G	possibly damaging	Het
Ncapg	A	G	5: 45,693,748		probably null	Het
Nfyb	G	A	10: 82,755,002	A65V	possibly damaging	Het
Olfr1241	A	G	2: 89,482,803	F111L	probably benign	Het
Olfr1442	C	A	19: 12,674,860	F218L	probably benign	Het
Olfr646	T	C	7: 104,106,605	S109P	probably damaging	Het
Osbp2	A	C	11: 3,711,791	S754A	probably benign	Het
Pard3	C	T	8: 127,398,666	R712C	probably damaging	Het
Parp9	T	C	16: 35,948,341	I64T	probably damaging	Het
Pcm1	T	A	8: 41,257,937	H81Q	possibly damaging	Het
Pcnt	G	A	10: 76,389,196	P1825S	probably benign	Het
Pfkfb4	T	C	9: 108,998,889	V43A	probably benign	Het
Pgap1	A	T	1: 54,494,825	V643E	probably damaging	Het
Pip5k1b	T	A	19: 24,379,047	M176L	probably benign	Het
Polg2	T	C	11: 106,777,132		probably benign	Het
Pomp	T	A	5: 147,875,513	H136Q	probably benign	Het
Ppfia4	A	T	1: 134,324,217		probably null	Het
Prdx2	G	A	8: 84,970,251	G4S	probably benign	Het
Rbm28	C	T	6: 29,160,105	G70D	probably benign	Het
Rdh10	T	A	1: 16,106,265	I83N	probably damaging	Het
Rin3	A	G	12: 102,313,081	I50V	possibly damaging	Het
Rnf122	T	C	8: 31,124,849		probably benign	Het
Sik2	A	G	9: 50,899,475	M447T	possibly damaging	Het
Sla2	A	G	2: 156,883,587		probably null	Het
Slc51a	T	A	16: 32,477,607	I192L	probably benign	Het
Sorcs1	T	C	19: 50,378,891		probably benign	Het
Spata16	T	A	3: 26,913,267	F389I	probably damaging	Het
Srebf1	G	A	11: 60,201,804	A793V	probably benign	Het
Tbc1d9b	T	C	11: 50,158,434	V736A	probably benign	Het
Tbx15	C	A	3: 99,351,866	T351N	possibly damaging	Het
Tep1	A	G	14: 50,851,916		probably null	Het
Tmed11	T	A	5: 108,777,412	D178V	probably damaging	Het
Traf7	A	G	17: 24,513,926	F110L	probably benign	Het
Ubqlnl	C	T	7: 104,150,192	V33M	probably damaging	Het
Vcan	A	T	13: 89,678,073		probably null	Het
Vmn1r194	A	G	13: 22,245,047	Y278C	probably damaging	Het
Vmn1r46	T	C	6: 89,977,062	F298L	probably benign	Het
Vps13b	A	G	15: 35,572,119	T961A	probably benign	Het
Wdr48	G	A	9: 119,918,568		probably benign	Het
Wwp1	G	A	4: 19,641,725		probably benign	Het
Zfp217	C	T	2: 170,115,462	A539T	probably benign	Het
Zfp839	G	A	12: 110,860,874	E400K	possibly damaging	Het

Other mutations in Pip5k1a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01455:Pip5k1a	APN	3	95068160	missense	probably benign	0.15
IGL01647:Pip5k1a	APN	3	95074072	missense	probably damaging	1.00
IGL02536:Pip5k1a	APN	3	95064396	missense	probably benign	0.01
IGL02612:Pip5k1a	APN	3	95067413	missense	probably benign	0.02
Biden	UTSW	3	95068121	missense	probably damaging	1.00
Time	UTSW	3	95060498	missense	possibly damaging	0.76
R0217:Pip5k1a	UTSW	3	95073991	critical splice donor site	probably null
R0891:Pip5k1a	UTSW	3	95065520	splice site	probably benign
R1157:Pip5k1a	UTSW	3	95078112	missense	probably benign	0.15
R1692:Pip5k1a	UTSW	3	95063730	missense	probably benign	0.00
R2176:Pip5k1a	UTSW	3	95065496	missense	probably damaging	1.00
R2187:Pip5k1a	UTSW	3	95071918	missense	probably damaging	1.00
R3693:Pip5k1a	UTSW	3	95078187	splice site	probably benign
R3933:Pip5k1a	UTSW	3	95072003	missense	probably benign	0.00
R4405:Pip5k1a	UTSW	3	95068059	critical splice donor site	probably null
R4903:Pip5k1a	UTSW	3	95070783	missense	probably benign	0.01
R4964:Pip5k1a	UTSW	3	95070783	missense	probably benign	0.01
R5652:Pip5k1a	UTSW	3	95067439	missense	probably benign
R6314:Pip5k1a	UTSW	3	95068121	missense	probably damaging	1.00
R6954:Pip5k1a	UTSW	3	95068247	missense	probably damaging	1.00
R7090:Pip5k1a	UTSW	3	95060498	missense	possibly damaging	0.76
R7432:Pip5k1a	UTSW	3	95074120	missense	probably benign	0.01
X0017:Pip5k1a	UTSW	3	95078163	missense	probably benign	0.00

Posted On

2013-01-31