Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03115:Pip5kl1'

419392

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pip5kl1

Ensembl Gene

ENSMUSG00000046854

Gene Name

phosphatidylinositol-4-phosphate 5-kinase-like 1

Synonyms

Accession Numbers

Essential gene?

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

Stock #

IGL03115

Quality Score

Status

Chromosome

Chromosomal Location

32465238-32473799 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 32470033 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 288 (D288G)

Ref Sequence

ENSEMBL: ENSMUSP00000097763 (fasta)

Gene Model

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

AlphaFold

Q6U7H8

Predicted Effect

probably damaging
Transcript: ENSMUST00000055304
AA Change: D246G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000051282
Gene: ENSMUSG00000046854
AA Change: D246G

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000100188
AA Change: D288G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000097763
Gene: ENSMUSG00000046854
AA Change: D288G

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

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamdec1	T	A	14: 68,808,802 (GRCm39)	H302L	probably damaging	Het
Adamts12	T	A	15: 11,263,422 (GRCm39)	C595S	probably damaging	Het
Arid2	G	A	15: 96,268,154 (GRCm39)	V756I	probably damaging	Het
Asah1	A	T	8: 41,813,336 (GRCm39)	W26R	possibly damaging	Het
Brinp1	C	T	4: 68,822,973 (GRCm39)		probably null	Het
Cers2	A	G	3: 95,228,663 (GRCm39)	D162G	probably damaging	Het
Clasp1	G	T	1: 118,429,053 (GRCm39)	E106*	probably null	Het
Col12a1	T	C	9: 79,588,719 (GRCm39)	E1132G	probably damaging	Het
Dhdds	G	T	4: 133,710,182 (GRCm39)	H196N	probably benign	Het
Eps8	T	C	6: 137,504,379 (GRCm39)	D118G	probably damaging	Het
Fmo9	A	G	1: 166,505,220 (GRCm39)	S7P	probably damaging	Het
Gamt	A	G	10: 80,094,272 (GRCm39)	L197P	probably damaging	Het
Grb7	A	G	11: 98,341,945 (GRCm39)	I82V	probably damaging	Het
Hectd2	T	C	19: 36,577,121 (GRCm39)		probably null	Het
Ilk	T	C	7: 105,389,542 (GRCm39)	V83A	probably damaging	Het
Kif21a	T	A	15: 90,869,598 (GRCm39)	I418F	probably damaging	Het
Kndc1	A	G	7: 139,501,425 (GRCm39)	I905V	probably benign	Het
Lyl1	C	T	8: 85,429,300 (GRCm39)	P3L	possibly damaging	Het
Morc3	T	C	16: 93,667,971 (GRCm39)	I710T	probably damaging	Het
Nefm	T	C	14: 68,357,728 (GRCm39)		probably benign	Het
Or10d5	T	C	9: 39,862,040 (GRCm39)	E9G	probably damaging	Het
Or2f2	A	G	6: 42,767,599 (GRCm39)	T209A	probably benign	Het
Or8g23	C	A	9: 38,971,259 (GRCm39)	R234S	probably damaging	Het
Pard6g	T	G	18: 80,123,068 (GRCm39)	L34W	probably damaging	Het
Patj	C	T	4: 98,332,040 (GRCm39)	S562L	probably damaging	Het
Pcsk4	A	G	10: 80,164,883 (GRCm39)	I61T	probably damaging	Het
Pcsk7	T	A	9: 45,825,670 (GRCm39)	H300Q	probably damaging	Het
Plxnb2	T	A	15: 89,046,641 (GRCm39)		probably benign	Het
Poldip2	T	C	11: 78,411,970 (GRCm39)		probably benign	Het
Ralgapa2	T	C	2: 146,266,734 (GRCm39)	Y614C	probably damaging	Het
Rarres1	C	A	3: 67,403,145 (GRCm39)		probably null	Het
Samd3	C	T	10: 26,147,606 (GRCm39)	T427M	probably damaging	Het
Skap1	A	G	11: 96,593,446 (GRCm39)	I98V	probably benign	Het
Skint11	T	C	4: 114,101,820 (GRCm39)	S87P	probably damaging	Het
Slc22a22	T	G	15: 57,126,670 (GRCm39)	E133A	probably damaging	Het
Slc23a2	T	C	2: 131,933,185 (GRCm39)	Y91C	probably damaging	Het
Slc6a20b	T	A	9: 123,426,403 (GRCm39)	E494V	possibly damaging	Het
Slco1a4	A	T	6: 141,765,329 (GRCm39)	D304E	probably benign	Het
Slco1a4	A	C	6: 141,763,585 (GRCm39)	M377R	probably damaging	Het
Srpk2	T	C	5: 23,729,616 (GRCm39)		probably null	Het
Supt3	T	G	17: 45,352,114 (GRCm39)	C271W	probably damaging	Het
Taar7d	C	A	10: 23,903,539 (GRCm39)	F140L	probably benign	Het
Tmbim7	T	C	5: 3,729,158 (GRCm39)	*225Q	probably null	Het
Tpst1	T	C	5: 130,130,752 (GRCm39)	I74T	probably damaging	Het
Utp3	T	C	5: 88,703,179 (GRCm39)	V236A	possibly damaging	Het
Vmn2r55	A	T	7: 12,404,558 (GRCm39)	F282I	probably damaging	Het
Vwa5b1	A	T	4: 138,327,460 (GRCm39)	I372N	possibly damaging	Het
Wtip	C	T	7: 33,824,958 (GRCm39)	A209T	probably damaging	Het
Zbbx	T	C	3: 74,985,867 (GRCm39)	D395G	probably benign	Het
Zfp273	A	T	13: 67,973,769 (GRCm39)	H299L	probably damaging	Het
Zfp459	G	A	13: 67,556,796 (GRCm39)	R96*	probably null	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
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
R5378:Pip5kl1	UTSW	2	32,469,106 (GRCm39)	missense	probably benign	0.02
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

Posted On

2016-08-02