Mutagenetix > Incidental Mutation

Incidental Mutation 'R6314:Pip5k1a'

509924

Institutional Source

Beutler Lab

Gene Symbol

Pip5k1a

Ensembl Gene

ENSMUSG00000028126

Gene Name

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

Synonyms

Pipk5a

MMRRC Submission

044471-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6314 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

94965841-95014241 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 94975432 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 346 (T346K)

Ref Sequence

ENSEMBL: ENSMUSP00000102851 (fasta)

Gene Model

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

AlphaFold

P70182

Predicted Effect

probably damaging
Transcript: ENSMUST00000005768
AA Change: T346K

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000005768
Gene: ENSMUSG00000028126
AA Change: T346K

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 damaging
Transcript: ENSMUST00000107232
AA Change: T346K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000102851
Gene: ENSMUSG00000028126
AA Change: T346K

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 damaging
Transcript: ENSMUST00000107233
AA Change: T348K

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000102852
Gene: ENSMUSG00000028126
AA Change: T348K

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 damaging
Transcript: ENSMUST00000107236
AA Change: T347K

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000102855
Gene: ENSMUSG00000028126
AA Change: T347K

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

0.6295

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 97.5%

Validation Efficiency

98% (54/55)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930449I24Rik	A	C	5: 146,441,702 (GRCm39)	E283A	possibly damaging	Het
Aadacl2	A	T	3: 59,924,824 (GRCm39)	R130S	probably damaging	Het
Adam22	A	T	5: 8,177,365 (GRCm39)	C581*	probably null	Het
Adss2	T	A	1: 177,595,334 (GRCm39)	Y402F	probably damaging	Het
Agfg1	A	T	1: 82,836,155 (GRCm39)	Q13H	probably damaging	Het
Ankdd1a	C	T	9: 65,415,343 (GRCm39)	A227T	possibly damaging	Het
Armc8	A	G	9: 99,417,937 (GRCm39)	S74P	probably benign	Het
Atn1	A	T	6: 124,724,013 (GRCm39)		probably benign	Het
Ddx5	T	C	11: 106,679,347 (GRCm39)		probably benign	Het
Depdc1a	T	A	3: 159,204,051 (GRCm39)	H33Q	probably damaging	Het
Dnmt3l	A	T	10: 77,895,521 (GRCm39)	Y58F	probably benign	Het
Efemp1	C	T	11: 28,864,603 (GRCm39)	T219I	probably benign	Het
Enpp2	T	C	15: 54,729,366 (GRCm39)	N436D	probably damaging	Het
Epb41l4a	A	G	18: 34,007,208 (GRCm39)	V261A	probably damaging	Het
Erap1	A	T	13: 74,822,894 (GRCm39)	K802N	probably damaging	Het
Fads2b	T	C	2: 85,332,520 (GRCm39)	N168S	probably benign	Het
Fcrl6	T	A	1: 172,426,186 (GRCm39)		probably null	Het
Fv1	A	T	4: 147,954,156 (GRCm39)		probably null	Het
Gdpd4	T	A	7: 97,623,160 (GRCm39)	M257K	probably damaging	Het
Gorab	T	C	1: 163,224,658 (GRCm39)	S48G	probably damaging	Het
Gxylt2	A	T	6: 100,775,164 (GRCm39)	H361L	probably damaging	Het
Hk1	A	G	10: 62,128,223 (GRCm39)	Y300H	possibly damaging	Het
Hk3	T	C	13: 55,161,393 (GRCm39)	R156G	probably benign	Het
Hook3	T	A	8: 26,578,136 (GRCm39)	M118L	probably benign	Het
Lmnb2	G	A	10: 80,745,804 (GRCm39)	R92C	probably damaging	Het
Lsr	A	G	7: 30,658,024 (GRCm39)	L380P	probably damaging	Het
Mettl16	A	T	11: 74,686,832 (GRCm39)	R204*	probably null	Het
Or5h18	A	T	16: 58,847,820 (GRCm39)	I150K	probably benign	Het
Or7a37	A	G	10: 78,806,179 (GRCm39)	H232R	probably benign	Het
Or7e173	C	A	9: 19,938,958 (GRCm39)	S92I	probably damaging	Het
Orc3	C	A	4: 34,579,797 (GRCm39)	G494C	possibly damaging	Het
Pcare	T	G	17: 72,059,452 (GRCm39)	Q75P	probably benign	Het
Pitx1	A	T	13: 55,974,166 (GRCm39)	S222T	possibly damaging	Het
Pm20d1	T	C	1: 131,743,754 (GRCm39)	V473A	possibly damaging	Het
Pnpla6	C	T	8: 3,571,572 (GRCm39)	L168F	probably benign	Het
Pramel13	T	C	4: 144,121,157 (GRCm39)	D289G	probably damaging	Het
Reln	C	A	5: 22,357,482 (GRCm39)	E195*	probably null	Het
S100a7l2	A	T	3: 90,995,683 (GRCm39)	V73E	possibly damaging	Het
Sec24b	A	T	3: 129,800,894 (GRCm39)		probably null	Het
Selenbp1	A	G	3: 94,844,576 (GRCm39)	N78D	probably damaging	Het
Serpina1d	T	A	12: 103,730,959 (GRCm39)	T340S	probably benign	Het
Slc13a2	CGTTATCTGT	CGT	11: 78,294,306 (GRCm39)		probably benign	Het
Snap29	T	C	16: 17,237,183 (GRCm39)	M98T	probably benign	Het
Son	G	T	16: 91,457,298 (GRCm39)		probably benign	Het
Spef1l	A	C	7: 139,556,402 (GRCm39)	L195R	possibly damaging	Het
Tgfbi	A	T	13: 56,773,976 (GRCm39)	T252S	probably benign	Het
Thsd7a	T	C	6: 12,554,996 (GRCm39)	N296S	possibly damaging	Het
Tmem225	C	G	9: 40,062,016 (GRCm39)	T210S	probably benign	Het
Tmem245	A	T	4: 56,888,592 (GRCm39)	V778D	possibly damaging	Het
Tor4a	T	C	2: 25,084,794 (GRCm39)	R370G	possibly damaging	Het
Tubgcp3	T	C	8: 12,698,625 (GRCm39)	H442R	probably benign	Het
Vmn1r20	A	T	6: 57,409,042 (GRCm39)	M123L	probably benign	Het
Zfp622	T	C	15: 25,987,067 (GRCm39)	V273A	probably benign	Het
Zhx1	C	T	15: 57,917,398 (GRCm39)	V283I	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
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
R5652:Pip5k1a	UTSW	3	94,974,750 (GRCm39)	missense	probably benign
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'- TGCGCACCTAAGCTTCTAGATC -3'
(R):5'- CTCCCAAATGTTGACAGTGTCC -3'

Sequencing Primer
(F):5'- ATCCTAGAGAGCTCTCCCCAGTG -3'
(R):5'- AAATGTTGACAGTGTCCTTTCTC -3'

Posted On

2018-04-02