Mutagenetix > Incidental Mutation

Incidental Mutation 'R9234:Pip5kl1'

700959

Institutional Source

Beutler Lab

Gene Symbol

Pip5kl1

Ensembl Gene

ENSMUSG00000046854

Gene Name

phosphatidylinositol-4-phosphate 5-kinase-like 1

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9234 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

32465238-32473799 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 32468211 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Cysteine at position 126 (G126C)

Ref Sequence

ENSEMBL: ENSMUSP00000051282 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028151] [ENSMUST00000055304] [ENSMUST00000100188] [ENSMUST00000100190] [ENSMUST00000140592]

AlphaFold

Q6U7H8

Predicted Effect

probably benign
Transcript: ENSMUST00000028151

SMART Domains

Protein: ENSMUSP00000028151
Gene: ENSMUSG00000026810

Domain	Start	End	E-Value	Type
Pfam:DPM2	5	80	4.2e-35	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000055304
AA Change: G126C

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

SMART Domains

Protein: ENSMUSP00000051282
Gene: ENSMUSG00000046854
AA Change: G126C

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

Predicted Effect

probably benign
Transcript: ENSMUST00000100188
AA Change: G168C

PolyPhen 2 Score 0.353 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000097763
Gene: ENSMUSG00000046854
AA Change: G168C

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

Predicted Effect

probably benign
Transcript: ENSMUST00000100190

Predicted Effect

probably benign
Transcript: ENSMUST00000140592

SMART Domains

Protein: ENSMUSP00000124665
Gene: ENSMUSG00000026810

Domain	Start	End	E-Value	Type
Pfam:DPM2	5	68	3e-30	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6430550D23Rik	A	G	2: 155,845,798 (GRCm39)	Y20H	probably benign	Het
Arid5b	A	G	10: 67,964,628 (GRCm39)	F348L	possibly damaging	Het
Bms1	C	A	6: 118,375,044 (GRCm39)	A777S	probably damaging	Het
C2cd3	A	G	7: 100,049,012 (GRCm39)	Y61C		Het
Caprin2	A	T	6: 148,744,337 (GRCm39)	Y1029*	probably null	Het
Casp1	A	T	9: 5,303,128 (GRCm39)	D194V	probably benign	Het
Crkl	A	G	16: 17,286,822 (GRCm39)	E126G	probably damaging	Het
Crp	A	T	1: 172,526,413 (GRCm39)	D166V	probably damaging	Het
Dnah10	A	C	5: 124,818,989 (GRCm39)	D425A	possibly damaging	Het
Dnah11	A	T	12: 117,951,095 (GRCm39)	L3071Q	probably damaging	Het
Dnah9	T	A	11: 65,924,751 (GRCm39)	I2168F	possibly damaging	Het
Elp3	T	A	14: 65,788,920 (GRCm39)	I388F	probably damaging	Het
Espn	C	A	4: 152,217,380 (GRCm39)		probably null	Het
Fbrsl1	G	T	5: 110,511,250 (GRCm39)	F504L	probably benign	Het
Fzd9	A	C	5: 135,279,540 (GRCm39)	M115R	probably damaging	Het
Git2	A	T	5: 114,899,682 (GRCm39)	Y224N	possibly damaging	Het
Gm9195	A	T	14: 72,695,786 (GRCm39)	Y1415*	probably null	Het
Gnpat	T	A	8: 125,610,179 (GRCm39)	L454Q	probably damaging	Het
Grm5	C	T	7: 87,723,440 (GRCm39)	P577S	probably damaging	Het
Hfm1	T	C	5: 107,041,334 (GRCm39)	N683S	probably benign	Het
Hps4	G	A	5: 112,525,905 (GRCm39)	S642N	possibly damaging	Het
Leng8	C	A	7: 4,145,247 (GRCm39)	P216T	probably damaging	Het
Letm2	C	A	8: 26,084,102 (GRCm39)	R43L	probably benign	Het
Lims2	A	T	18: 32,090,943 (GRCm39)	Y309F	probably benign	Het
Llgl1	T	C	11: 60,600,956 (GRCm39)		probably null	Het
Ltn1	A	T	16: 87,194,089 (GRCm39)	D1417E	probably damaging	Het
Map4k4	T	A	1: 40,029,261 (GRCm39)	N345K	unknown	Het
Mapre2	T	C	18: 23,937,236 (GRCm39)	I26T	probably benign	Het
Nfe2	A	G	15: 103,159,636 (GRCm39)		probably benign	Het
Nlgn3	T	C	X: 100,352,390 (GRCm39)	V179A	probably damaging	Het
Ntrk1	A	G	3: 87,695,622 (GRCm39)		probably null	Het
Or51b6b	T	A	7: 103,309,950 (GRCm39)	Y169F	possibly damaging	Het
Or52e18	A	G	7: 104,609,651 (GRCm39)	F96S	probably damaging	Het
Or5h19	T	C	16: 58,856,789 (GRCm39)	N104D	probably benign	Het
Otud7b	G	T	3: 96,047,771 (GRCm39)	Q43H	probably damaging	Het
Pcdhb5	T	C	18: 37,453,695 (GRCm39)	V25A	probably benign	Het
Pcolce2	A	G	9: 95,560,439 (GRCm39)	T163A	probably benign	Het
Pdgfra	T	A	5: 75,324,262 (GRCm39)	V39E	possibly damaging	Het
Pdgfrb	T	A	18: 61,194,300 (GRCm39)	W26R	probably null	Het
Pigp	T	A	16: 94,165,522 (GRCm39)	*206Y	probably null	Het
Plekhg2	G	T	7: 28,064,215 (GRCm39)	T442K	probably benign	Het
Prmt5	A	T	14: 54,748,674 (GRCm39)	S375T	possibly damaging	Het
Rnf213	T	A	11: 119,340,943 (GRCm39)	M3529K		Het
Ror2	C	A	13: 53,265,374 (GRCm39)	D573Y	probably damaging	Het
Shank1	A	G	7: 43,962,579 (GRCm39)	T98A	unknown	Het
Shcbp1	A	T	8: 4,798,800 (GRCm39)	I373K	possibly damaging	Het
Slc25a42	A	G	8: 70,642,736 (GRCm39)	S64P	probably damaging	Het
Smco3	T	A	6: 136,808,410 (GRCm39)	I155F	probably damaging	Het
Snx4	C	A	16: 33,087,161 (GRCm39)	S102*	probably null	Het
Snx4	T	A	16: 33,108,069 (GRCm39)	S288T	probably benign	Het
Socs4	A	G	14: 47,527,716 (GRCm39)	N217S	probably benign	Het
Tatdn2	G	A	6: 113,679,683 (GRCm39)		probably null	Het
Tmprss2	A	G	16: 97,379,821 (GRCm39)	Y160H	probably damaging	Het
Trim37	T	C	11: 87,036,393 (GRCm39)	I158T	possibly damaging	Het
Trip11	C	T	12: 101,811,990 (GRCm39)		probably null	Het
Ubr3	G	A	2: 69,727,990 (GRCm39)	A118T	probably benign	Het
Ubxn7	T	C	16: 32,178,895 (GRCm39)		probably null	Het
Unc5cl	C	T	17: 48,770,658 (GRCm39)	H369Y	probably damaging	Het
Unc5d	A	T	8: 29,250,877 (GRCm39)	N263K	probably damaging	Het
Vmn2r59	A	G	7: 41,661,907 (GRCm39)	I636T	possibly damaging	Het
Vps13d	G	T	4: 144,875,792 (GRCm39)	Q1578K		Het
Wnk2	T	C	13: 49,224,274 (GRCm39)	D1171G	probably damaging	Het
Zfpm2	A	G	15: 40,966,470 (GRCm39)	Y985C	probably damaging	Het
Zpbp2	A	T	11: 98,443,398 (GRCm39)	N77I	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
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
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'- ATGGCTAGTTCCCAGGACCTTG -3'
(R):5'- ATGGATGTGTCTGGCTACCTC -3'

Sequencing Primer
(F):5'- CAGGACCTTGCTGGGTTGAC -3'
(R):5'- GGCTACCTCGCCCCCTTG -3'

Posted On

2022-03-25