Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02612:Pip5k1a'

300516

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pip5k1a

Ensembl Gene

ENSMUSG00000028126

Gene Name

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

Synonyms

Pipk5a

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02612

Quality Score

Status

Chromosome

Chromosomal Location

94965841-95014241 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 94974724 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 385 (I385V)

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: I384V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000005768
Gene: ENSMUSG00000028126
AA Change: I384V

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: I384V

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000102851
Gene: ENSMUSG00000028126
AA Change: I384V

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: I386V

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000102852
Gene: ENSMUSG00000028126
AA Change: I386V

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: I385V

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000102855
Gene: ENSMUSG00000028126
AA Change: I385V

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

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	A	T	6: 121,654,971 (GRCm39)	M1432L	probably benign	Het
Alg11	A	G	8: 22,551,999 (GRCm39)	R48G	probably benign	Het
Armc8	T	C	9: 99,409,122 (GRCm39)		probably benign	Het
Bmp4	T	A	14: 46,621,938 (GRCm39)	D202V	probably damaging	Het
Car12	T	G	9: 66,669,706 (GRCm39)	L300R	probably damaging	Het
Cdc37l1	T	A	19: 28,993,502 (GRCm39)	*336R	probably null	Het
Cep89	A	G	7: 35,124,080 (GRCm39)		probably null	Het
Ces3b	T	A	8: 105,811,901 (GRCm39)	D103E	possibly damaging	Het
Chd5	A	G	4: 152,445,033 (GRCm39)	D338G	probably damaging	Het
Crot	A	G	5: 9,019,945 (GRCm39)	C466R	probably damaging	Het
Dach2	T	C	X: 112,660,101 (GRCm39)	M194T	probably benign	Het
Dmrtc1b	A	G	X: 101,756,873 (GRCm39)	D100G	probably benign	Het
Epm2a	G	A	10: 11,332,980 (GRCm39)	R271H	probably damaging	Het
Fem1c	G	T	18: 46,638,781 (GRCm39)	T407K	probably benign	Het
Fer1l4	T	C	2: 155,889,848 (GRCm39)	Y273C	probably damaging	Het
Foxc2	C	A	8: 121,844,576 (GRCm39)	A408E	probably benign	Het
Gbp10	A	T	5: 105,366,368 (GRCm39)	M512K	possibly damaging	Het
Gm5134	T	C	10: 75,828,323 (GRCm39)	L301P	probably damaging	Het
Grk3	A	T	5: 113,117,100 (GRCm39)	D100E	probably benign	Het
Gsdma3	T	A	11: 98,526,707 (GRCm39)	D322E	probably damaging	Het
Gucy1a2	C	A	9: 3,894,556 (GRCm39)	L680I	possibly damaging	Het
Ighv7-2	T	C	12: 113,875,766 (GRCm39)	Y79C	probably damaging	Het
Igkv4-50	T	C	6: 69,678,024 (GRCm39)	T27A	probably benign	Het
Ints2	T	C	11: 86,106,404 (GRCm39)	D1002G	probably damaging	Het
Map4k5	T	A	12: 69,896,358 (GRCm39)	I169F	possibly damaging	Het
Mink1	T	C	11: 70,488,052 (GRCm39)	V39A	probably damaging	Het
Mms22l	T	A	4: 24,508,482 (GRCm39)	H301Q	probably benign	Het
Myh4	C	T	11: 67,147,305 (GRCm39)	T1650I	probably benign	Het
Or52n4	A	T	7: 104,293,870 (GRCm39)	D234E	probably benign	Het
Or8b37	T	A	9: 37,958,662 (GRCm39)	L48Q	probably damaging	Het
Or8b44	T	C	9: 38,410,769 (GRCm39)	M268T	probably benign	Het
Pate10	T	C	9: 35,653,460 (GRCm39)	I88T	possibly damaging	Het
Pbxip1	C	T	3: 89,350,988 (GRCm39)	T117M	probably damaging	Het
Pgghg	C	T	7: 140,526,251 (GRCm39)	T572M	probably damaging	Het
Phactr2	G	A	10: 13,121,167 (GRCm39)	T511I	probably damaging	Het
Pwp2	A	G	10: 78,018,828 (GRCm39)	C60R	probably damaging	Het
Rgs11	G	A	17: 26,426,605 (GRCm39)	V279I	probably benign	Het
Rttn	G	T	18: 88,991,750 (GRCm39)	D110Y	probably damaging	Het
Setbp1	G	T	18: 78,798,925 (GRCm39)	H1418Q	probably damaging	Het
Sf3b3	T	C	8: 111,569,608 (GRCm39)	I37V	probably benign	Het
Slc27a6	A	T	18: 58,689,977 (GRCm39)	I148F	probably benign	Het
Slmap	A	G	14: 26,180,621 (GRCm39)		probably benign	Het
Speer4a3	A	C	5: 26,156,614 (GRCm39)	Y122D	probably benign	Het
Stil	A	G	4: 114,880,893 (GRCm39)	Q479R	possibly damaging	Het
Svop	A	G	5: 114,166,321 (GRCm39)	*549Q	probably null	Het
Tnks	C	T	8: 35,316,453 (GRCm39)	V889I	possibly damaging	Het
Tnrc6c	T	A	11: 117,633,826 (GRCm39)	V1308E	possibly damaging	Het
Vmn1r208	C	A	13: 22,956,993 (GRCm39)	C168F	probably damaging	Het
Vmn2r117	A	T	17: 23,678,758 (GRCm39)	M822K	possibly damaging	Het
Vwa8	A	G	14: 79,420,552 (GRCm39)	N1751S	probably benign	Het
Vwde	A	T	6: 13,187,148 (GRCm39)	F780I	probably damaging	Het
Washc2	T	C	6: 116,197,577 (GRCm39)	I184T	possibly damaging	Het
Wdr26	A	T	1: 181,005,361 (GRCm39)		probably benign	Het
Zfp608	G	A	18: 55,031,273 (GRCm39)	T889M	probably damaging	Het
Zfp955a	G	T	17: 33,463,039 (GRCm39)	Q31K	probably damaging	Het
Zpbp2	T	C	11: 98,446,343 (GRCm39)	L145S	probably benign	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
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
R5652:Pip5k1a	UTSW	3	94,974,750 (GRCm39)	missense	probably benign
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

Posted On

2015-04-16