Mutagenetix > Incidental Mutation

Incidental Mutation 'R5378:Pip5kl1'

425666

Institutional Source

Beutler Lab

Gene Symbol

Pip5kl1

Ensembl Gene

ENSMUSG00000046854

Gene Name

phosphatidylinositol-4-phosphate 5-kinase-like 1

Synonyms

MMRRC Submission

042953-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.138) question?

Stock #

R5378 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

32465238-32473799 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 32469106 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 213 (T213S)

Ref Sequence

ENSEMBL: ENSMUSP00000051282 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055304] [ENSMUST00000100188] [ENSMUST00000100190]

AlphaFold

Q6U7H8

Predicted Effect

probably benign
Transcript: ENSMUST00000055304
AA Change: T213S

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

SMART Domains

Protein: ENSMUSP00000051282
Gene: ENSMUSG00000046854
AA Change: T213S

Domain	Start	End	E-Value	Type
Pfam:PIP5K	127	393	4.2e-62	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000100188
AA Change: T255S

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000097763
Gene: ENSMUSG00000046854
AA Change: T255S

Domain	Start	End	E-Value	Type
Pfam:PIP5K	165	358	4.3e-49	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000100190

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124980

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134204

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 96.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] PIP5KL1 is a phosphoinositide kinase-like protein that lacks intrinsic lipid kinase activity but associates with type I PIPKs (see PIP5K1A; MIM 603275) and may play a role in localization of PIPK activity (Chang et al., 2004 [PubMed 14701839]).[supplied by OMIM, Jun 2009]

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abat	T	A	16: 8,396,141 (GRCm39)	F39L	probably benign	Het
Abca2	T	G	2: 25,336,080 (GRCm39)	L2150R	probably damaging	Het
Apob	T	A	12: 8,061,865 (GRCm39)	V3449D	probably damaging	Het
Arfgef2	T	A	2: 166,715,548 (GRCm39)	V1331D	probably damaging	Het
Bora	A	G	14: 99,305,929 (GRCm39)	N433D	probably damaging	Het
Cand2	G	A	6: 115,778,912 (GRCm39)	A1159T	probably benign	Het
Ccser1	C	T	6: 61,288,650 (GRCm39)	A271V	probably benign	Het
Ccser2	G	A	14: 36,601,391 (GRCm39)	T331I	possibly damaging	Het
Cemip	A	G	7: 83,607,733 (GRCm39)	S758P	probably damaging	Het
Cenpf	C	T	1: 189,385,663 (GRCm39)	V2206I	possibly damaging	Het
Chrnb1	A	T	11: 69,676,007 (GRCm39)	S412T	probably benign	Het
Cks1b	A	C	3: 89,323,608 (GRCm39)	W54G	probably damaging	Het
Col5a3	C	T	9: 20,708,872 (GRCm39)	V630M	unknown	Het
Dnajb14	A	G	3: 137,591,139 (GRCm39)	D30G	probably benign	Het
Dpp8	T	C	9: 64,985,296 (GRCm39)	Y785H	probably damaging	Het
Dsel	T	A	1: 111,790,551 (GRCm39)		probably benign	Het
Dzip1	C	T	14: 119,148,805 (GRCm39)	M291I	probably damaging	Het
Esp8	G	A	17: 40,841,033 (GRCm39)	C98Y	unknown	Het
F11	C	A	8: 45,705,180 (GRCm39)	M120I	probably benign	Het
Fsip2	T	C	2: 82,820,185 (GRCm39)	F5306S	possibly damaging	Het
Gm4841	T	C	18: 60,404,113 (GRCm39)		probably null	Het
Gpr180	T	A	14: 118,377,251 (GRCm39)	L84Q	probably benign	Het
Grwd1	A	T	7: 45,479,505 (GRCm39)	D123E	probably benign	Het
Hsfy2	T	C	1: 56,675,827 (GRCm39)	R237G	probably benign	Het
Htr5a	A	G	5: 28,055,993 (GRCm39)	Y328C	probably damaging	Het
Klrb1f	G	A	6: 129,030,794 (GRCm39)	A127T	probably damaging	Het
Mcpt4	A	T	14: 56,299,750 (GRCm39)		probably null	Het
Muc5b	T	C	7: 141,415,940 (GRCm39)	V2962A	unknown	Het
Or52s19	T	A	7: 103,007,652 (GRCm39)	I250F	probably damaging	Het
Or5t15	A	T	2: 86,681,807 (GRCm39)	N78K	probably benign	Het
Otog	A	T	7: 45,904,428 (GRCm39)	T518S	probably damaging	Het
Phgdh	A	T	3: 98,228,639 (GRCm39)		probably null	Het
Plekhg2	G	A	7: 28,062,094 (GRCm39)	R594W	probably damaging	Het
Prg4	T	A	1: 150,330,977 (GRCm39)		probably benign	Het
Prpf40a	T	A	2: 53,035,888 (GRCm39)	D621V	probably damaging	Het
Ptgr3	G	A	18: 84,112,803 (GRCm39)	A160T	probably damaging	Het
Ptprz1	A	T	6: 23,007,401 (GRCm39)	I1655F	probably damaging	Het
Rbm28	T	C	6: 29,128,558 (GRCm39)	K55E	probably damaging	Het
Rbm43	A	T	2: 51,815,633 (GRCm39)	V196E	probably damaging	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Serinc4	T	A	2: 121,282,861 (GRCm39)	M434L	possibly damaging	Het
Slc22a30	G	A	19: 8,321,757 (GRCm39)	Q436*	probably null	Het
Slc35f1	A	T	10: 52,567,157 (GRCm39)	H22L	possibly damaging	Het
Smg6	A	G	11: 74,932,820 (GRCm39)	D98G	possibly damaging	Het
Strbp	A	G	2: 37,489,186 (GRCm39)	Y527H	probably damaging	Het
Strbp	A	G	2: 37,490,818 (GRCm39)	V479A	probably benign	Het
Tdg	G	T	10: 82,477,305 (GRCm39)	V119L	probably benign	Het
Trav10d	G	A	14: 53,048,825 (GRCm39)	R72H	probably benign	Het
Trgc2	T	C	13: 19,489,297 (GRCm39)	Y145C	unknown	Het
Trim25	T	C	11: 88,900,093 (GRCm39)	L280P	probably damaging	Het
Tsc22d4	A	G	5: 137,760,726 (GRCm39)	D49G	probably damaging	Het
Ttn	T	C	2: 76,720,534 (GRCm39)		probably benign	Het
Tyr	T	A	7: 87,121,703 (GRCm39)	H363L	probably damaging	Het
Ubr5	A	G	15: 37,989,822 (GRCm39)	S2020P	probably damaging	Het
Usp9y	T	C	Y: 1,315,928 (GRCm39)	D2069G	probably damaging	Het
Vmn1r170	T	C	7: 23,305,963 (GRCm39)	W122R	probably benign	Het
Wdr7	G	A	18: 63,958,310 (GRCm39)		probably null	Het
Ylpm1	T	A	12: 85,077,029 (GRCm39)	H793Q	probably damaging	Het
Zfp266	G	A	9: 20,410,659 (GRCm39)	T506I	probably damaging	Het
Zfp518a	T	C	19: 40,904,300 (GRCm39)	S1410P	probably damaging	Het

Other mutations in Pip5kl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00990:Pip5kl1	APN	2	32,473,359 (GRCm39)	missense	probably benign	0.12
IGL03074:Pip5kl1	APN	2	32,470,353 (GRCm39)	missense	probably damaging	0.97
IGL03115:Pip5kl1	APN	2	32,470,033 (GRCm39)	missense	probably damaging	1.00
IGL03235:Pip5kl1	APN	2	32,468,166 (GRCm39)	missense	probably damaging	0.99
PIT4280001:Pip5kl1	UTSW	2	32,473,470 (GRCm39)	missense	probably benign	0.06
R0149:Pip5kl1	UTSW	2	32,468,966 (GRCm39)	missense	possibly damaging	0.70
R0416:Pip5kl1	UTSW	2	32,473,436 (GRCm39)	nonsense	probably null
R1500:Pip5kl1	UTSW	2	32,466,691 (GRCm39)	missense	probably benign	0.38
R1887:Pip5kl1	UTSW	2	32,468,517 (GRCm39)	missense	probably damaging	1.00
R2897:Pip5kl1	UTSW	2	32,473,359 (GRCm39)	missense	probably benign	0.12
R3824:Pip5kl1	UTSW	2	32,473,283 (GRCm39)	splice site	probably null
R3937:Pip5kl1	UTSW	2	32,469,124 (GRCm39)	missense	probably damaging	1.00
R7257:Pip5kl1	UTSW	2	32,470,443 (GRCm39)	critical splice donor site	probably null
R7414:Pip5kl1	UTSW	2	32,468,247 (GRCm39)	missense	possibly damaging	0.69
R7735:Pip5kl1	UTSW	2	32,469,101 (GRCm39)	missense	possibly damaging	0.70
R8073:Pip5kl1	UTSW	2	32,473,440 (GRCm39)	missense	possibly damaging	0.92
R8472:Pip5kl1	UTSW	2	32,470,018 (GRCm39)	missense	probably benign	0.20
R8877:Pip5kl1	UTSW	2	32,468,951 (GRCm39)	missense	possibly damaging	0.70
R8899:Pip5kl1	UTSW	2	32,469,082 (GRCm39)	missense	probably benign	0.04
R8953:Pip5kl1	UTSW	2	32,469,991 (GRCm39)	missense	possibly damaging	0.67
R9234:Pip5kl1	UTSW	2	32,468,211 (GRCm39)	missense	probably benign	0.01
R9490:Pip5kl1	UTSW	2	32,466,667 (GRCm39)	missense	probably benign
R9726:Pip5kl1	UTSW	2	32,473,391 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CGTCTTTCAGGCGTATACAGTC -3'
(R):5'- TCTGGACTACGGAGACTATTTCAATC -3'

Sequencing Primer
(F):5'- TCAGGCGTATACAGTCTGCGG -3'
(R):5'- TGAGCCTAGCCTGTACGAAAGC -3'

Posted On

2016-08-04