Mutagenetix > Incidental Mutation

Incidental Mutation 'R5652:Pip5k1a'

441471

Institutional Source

Beutler Lab

Gene Symbol

Pip5k1a

Ensembl Gene

ENSMUSG00000028126

Gene Name

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

Synonyms

Pipk5a

MMRRC Submission

043298-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5652 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

94965841-95014241 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 94974750 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 376 (N376S)

Ref Sequence

ENSEMBL: ENSMUSP00000102855 (fasta)

Gene Model

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

AlphaFold

P70182

Predicted Effect

probably benign
Transcript: ENSMUST00000005768
AA Change: N375S

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

SMART Domains

Protein: ENSMUSP00000005768
Gene: ENSMUSG00000028126
AA Change: N375S

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

noncoding transcript
Transcript: ENSMUST00000107231

Predicted Effect

probably benign
Transcript: ENSMUST00000107232
AA Change: N375S

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

SMART Domains

Protein: ENSMUSP00000102851
Gene: ENSMUSG00000028126
AA Change: N375S

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: N377S

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

SMART Domains

Protein: ENSMUSP00000102852
Gene: ENSMUSG00000028126
AA Change: N377S

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: N376S

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

SMART Domains

Protein: ENSMUSP00000102855
Gene: ENSMUSG00000028126
AA Change: N376S

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

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.0%

Validation Efficiency

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc4	T	C	14: 118,856,339 (GRCm39)	I334V	probably benign	Het
Adamts5	C	T	16: 85,696,156 (GRCm39)	A334T	probably damaging	Het
Adcy4	G	C	14: 56,010,900 (GRCm39)	F672L	probably benign	Het
Adgrl1	A	G	8: 84,656,444 (GRCm39)	Y254C	probably damaging	Het
Adnp2	A	G	18: 80,174,065 (GRCm39)	S115P	probably damaging	Het
Aox1	A	T	1: 58,134,356 (GRCm39)	S1110C	probably damaging	Het
Arhgap44	G	T	11: 64,915,064 (GRCm39)	N401K	probably damaging	Het
Atp23	A	T	10: 126,735,494 (GRCm39)	N63K	possibly damaging	Het
Atp8b1	G	C	18: 64,664,453 (GRCm39)	I1238M	probably benign	Het
Ccdc38	A	T	10: 93,391,448 (GRCm39)		probably null	Het
Celsr2	T	C	3: 108,304,051 (GRCm39)	D2364G	probably null	Het
Celsr3	G	A	9: 108,715,671 (GRCm39)	D2116N	probably benign	Het
Cenpf	A	G	1: 189,389,279 (GRCm39)	S1518P	probably damaging	Het
Clcn3	C	A	8: 61,372,387 (GRCm39)	V758L	possibly damaging	Het
Cmklr2	A	G	1: 63,222,626 (GRCm39)	V203A	probably benign	Het
Ctsf	T	C	19: 4,908,505 (GRCm39)	L288P	probably damaging	Het
Cwh43	A	G	5: 73,575,484 (GRCm39)	T334A	probably damaging	Het
Cyp3a57	A	T	5: 145,286,135 (GRCm39)		probably null	Het
Ddr1	C	T	17: 35,997,400 (GRCm39)	A531T	probably benign	Het
Dennd1a	A	G	2: 37,691,138 (GRCm39)	I260T	probably benign	Het
Dgkh	T	C	14: 78,865,201 (GRCm39)	H47R	probably damaging	Het
Dync1h1	G	A	12: 110,632,422 (GRCm39)	V4514I	possibly damaging	Het
Dync2h1	A	T	9: 7,116,638 (GRCm39)	M66K	probably benign	Het
Fam186a	T	G	15: 99,843,253 (GRCm39)	Y997S	possibly damaging	Het
Fam8a1	T	A	13: 46,827,814 (GRCm39)	L334H	probably damaging	Het
Fat4	C	T	3: 39,057,117 (GRCm39)	T4271I	probably damaging	Het
Fdxacb1	T	A	9: 50,679,705 (GRCm39)	L41Q	probably damaging	Het
Fgfr2	C	T	7: 129,863,593 (GRCm39)	V18M	probably damaging	Het
Gpa33	A	C	1: 165,992,714 (GRCm39)		probably null	Het
Gpr107	A	G	2: 31,075,601 (GRCm39)	I371V	probably benign	Het
H1f6	A	G	13: 23,880,219 (GRCm39)	K124R	probably benign	Het
Hectd2	T	C	19: 36,581,720 (GRCm39)	V420A	probably damaging	Het
Iglc3	A	G	16: 18,884,420 (GRCm39)		probably benign	Het
Igtp	A	G	11: 58,097,455 (GRCm39)	T209A	probably benign	Het
Itgb7	T	A	15: 102,124,638 (GRCm39)	N793I	possibly damaging	Het
Kansl1	G	A	11: 104,228,992 (GRCm39)	R870C	probably damaging	Het
Kcnh6	C	T	11: 105,899,811 (GRCm39)	R27C	probably damaging	Het
Kif2b	T	A	11: 91,466,656 (GRCm39)	E542D	possibly damaging	Het
Klhl24	C	A	16: 19,938,997 (GRCm39)	Y517*	probably null	Het
Klhl25	A	G	7: 75,515,895 (GRCm39)	D267G	probably benign	Het
Krr1	C	A	10: 111,813,288 (GRCm39)	F195L	possibly damaging	Het
Lsr	C	T	7: 30,658,456 (GRCm39)	G95D	probably damaging	Het
Matcap2	A	G	9: 22,335,786 (GRCm39)	T135A	probably benign	Het
Med15	A	T	16: 17,473,055 (GRCm39)	I504N	probably damaging	Het
Mug1	A	G	6: 121,817,140 (GRCm39)	R70G	probably benign	Het
Mypn	T	A	10: 62,971,580 (GRCm39)	Q820L	probably damaging	Het
Nlrp4f	A	T	13: 65,330,803 (GRCm39)	H863Q	probably benign	Het
Nudt9	G	A	5: 104,207,646 (GRCm39)	V213M	probably benign	Het
Or5ak4	T	A	2: 85,161,717 (GRCm39)	N175I	probably damaging	Het
Or5k14	A	G	16: 58,692,847 (GRCm39)	L222P	probably damaging	Het
Or7g16	A	G	9: 18,726,922 (GRCm39)	S223P	probably damaging	Het
Or8c13	T	C	9: 38,092,111 (GRCm39)	T3A	probably benign	Het
Orc2	A	G	1: 58,505,231 (GRCm39)	F475L	probably damaging	Het
Oxa1l	T	A	14: 54,604,289 (GRCm39)	L183*	probably null	Het
Pcdh20	T	C	14: 88,704,760 (GRCm39)	T847A	probably damaging	Het
Pcdha6	G	A	18: 37,101,889 (GRCm39)		probably null	Het
Pkd1l1	T	C	11: 8,859,889 (GRCm39)	E573G	probably benign	Het
Pkp1	T	A	1: 135,810,335 (GRCm39)		probably null	Het
Pum1	T	C	4: 130,491,438 (GRCm39)	I643T	possibly damaging	Het
Rapgef3	A	G	15: 97,656,318 (GRCm39)	S328P	probably benign	Het
Raver1	A	G	9: 21,001,608 (GRCm39)	V75A	probably damaging	Het
Rbm28	T	C	6: 29,135,408 (GRCm39)	E511G	probably damaging	Het
Satb1	T	A	17: 52,049,823 (GRCm39)	T544S	probably damaging	Het
Sdcbp2	T	C	2: 151,431,135 (GRCm39)	V248A	probably benign	Het
Sema7a	A	G	9: 57,867,942 (GRCm39)	D506G	probably damaging	Het
Septin8	A	G	11: 53,428,044 (GRCm39)	E286G	probably damaging	Het
Sh3pxd2b	A	G	11: 32,372,812 (GRCm39)	I660V	probably damaging	Het
Stk38l	G	T	6: 146,674,826 (GRCm39)	D364Y	possibly damaging	Het
Sycp2	T	C	2: 178,000,498 (GRCm39)		probably null	Het
Tbc1d31	T	A	15: 57,815,062 (GRCm39)	S580T	probably damaging	Het
Tcerg1l	G	A	7: 137,881,775 (GRCm39)	R305C	probably damaging	Het
Tek	T	A	4: 94,743,561 (GRCm39)	Y859N	probably damaging	Het
Tjp1	A	T	7: 64,962,191 (GRCm39)		probably null	Het
Tmem132d	A	T	5: 127,861,859 (GRCm39)	I754N	possibly damaging	Het
Togaram1	G	A	12: 65,063,424 (GRCm39)	V1580I	probably benign	Het
Troap	A	G	15: 98,980,145 (GRCm39)	T442A	probably benign	Het
Ttn	A	T	2: 76,712,097 (GRCm39)		probably benign	Het
Twnk	T	A	19: 44,995,732 (GRCm39)	V55E	possibly damaging	Het
Uggt1	A	T	1: 36,255,234 (GRCm39)	Y225*	probably null	Het
Vmn2r109	A	G	17: 20,760,781 (GRCm39)	*859Q	probably null	Het
Vmn2r17	A	T	5: 109,577,430 (GRCm39)	I494L	probably benign	Het
Vmn2r88	T	C	14: 51,656,029 (GRCm39)	V746A	probably damaging	Het
Yae1d1	A	G	13: 18,166,291 (GRCm39)	L57P	probably damaging	Het
Zfp26	G	A	9: 20,349,137 (GRCm39)	R476*	probably null	Het
Zmynd8	T	A	2: 165,649,618 (GRCm39)	Q816L	probably damaging	Het
Zswim8	A	T	14: 20,763,495 (GRCm39)	H414L	possibly damaging	Het

Other mutations in Pip5k1a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01455:Pip5k1a	APN	3	94,975,471 (GRCm39)	missense	probably benign	0.15
IGL01647:Pip5k1a	APN	3	94,981,383 (GRCm39)	missense	probably damaging	1.00
IGL02536:Pip5k1a	APN	3	94,971,707 (GRCm39)	missense	probably benign	0.01
IGL02612:Pip5k1a	APN	3	94,974,724 (GRCm39)	missense	probably benign	0.02
Biden	UTSW	3	94,975,432 (GRCm39)	missense	probably damaging	1.00
Time	UTSW	3	94,967,809 (GRCm39)	missense	possibly damaging	0.76
R0109:Pip5k1a	UTSW	3	94,972,753 (GRCm39)	missense	probably benign	0.03
R0217:Pip5k1a	UTSW	3	94,981,302 (GRCm39)	critical splice donor site	probably null
R0891:Pip5k1a	UTSW	3	94,972,831 (GRCm39)	splice site	probably benign
R1157:Pip5k1a	UTSW	3	94,985,423 (GRCm39)	missense	probably benign	0.15
R1692:Pip5k1a	UTSW	3	94,971,041 (GRCm39)	missense	probably benign	0.00
R2176:Pip5k1a	UTSW	3	94,972,807 (GRCm39)	missense	probably damaging	1.00
R2187:Pip5k1a	UTSW	3	94,979,229 (GRCm39)	missense	probably damaging	1.00
R3693:Pip5k1a	UTSW	3	94,985,498 (GRCm39)	splice site	probably benign
R3933:Pip5k1a	UTSW	3	94,979,314 (GRCm39)	missense	probably benign	0.00
R4405:Pip5k1a	UTSW	3	94,975,370 (GRCm39)	critical splice donor site	probably null
R4903:Pip5k1a	UTSW	3	94,978,094 (GRCm39)	missense	probably benign	0.01
R4964:Pip5k1a	UTSW	3	94,978,094 (GRCm39)	missense	probably benign	0.01
R6314:Pip5k1a	UTSW	3	94,975,432 (GRCm39)	missense	probably damaging	1.00
R6954:Pip5k1a	UTSW	3	94,975,558 (GRCm39)	missense	probably damaging	1.00
R7090:Pip5k1a	UTSW	3	94,967,809 (GRCm39)	missense	possibly damaging	0.76
R7432:Pip5k1a	UTSW	3	94,981,431 (GRCm39)	missense	probably benign	0.01
R8748:Pip5k1a	UTSW	3	94,971,695 (GRCm39)	missense	probably benign
X0017:Pip5k1a	UTSW	3	94,985,474 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GGTTCTTGCATCATGAGGAAC -3'
(R):5'- GTTCTATGCATGCTCAGAGGG -3'

Sequencing Primer
(F):5'- GATTTCTGAGTTCAAGGCCAGCC -3'
(R):5'- CATGCTCAGAGGGGCATAGTCTG -3'

Posted On

2016-11-08