Mutagenetix > Incidental Mutation

Incidental Mutation 'R8472:Pip5kl1'

657048

Institutional Source

Beutler Lab

Gene Symbol

Pip5kl1

Ensembl Gene

ENSMUSG00000046854

Gene Name

phosphatidylinositol-4-phosphate 5-kinase-like 1

Synonyms

MMRRC Submission

067916-MU

Accession Numbers

Essential gene?

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

Stock #

R8472 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

32465238-32473799 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 32470018 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 241 (V241A)

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: V241A

PolyPhen 2 Score 0.199 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000051282
Gene: ENSMUSG00000046854
AA Change: V241A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000100188
AA Change: V283A

PolyPhen 2 Score 0.106 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000097763
Gene: ENSMUSG00000046854
AA Change: V283A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000100190

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (61/61)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900092C05Rik	T	A	7: 12,246,568 (GRCm39)	H21Q	possibly damaging	Het
Ccdc7a	A	G	8: 129,754,138 (GRCm39)	S152P	probably damaging	Het
Ccnj	T	C	19: 40,833,608 (GRCm39)	S222P	probably damaging	Het
Cdcp2	C	T	4: 106,959,981 (GRCm39)	A132V	probably damaging	Het
Cnksr3	G	T	10: 7,084,532 (GRCm39)	P71Q	probably damaging	Het
Col9a3	C	T	2: 180,247,057 (GRCm39)	P185L	probably damaging	Het
Cpm	T	C	10: 117,515,883 (GRCm39)	V319A	probably damaging	Het
Ctxn2	A	G	2: 124,989,528 (GRCm39)	I52V	possibly damaging	Het
Cyp2c66	A	T	19: 39,165,021 (GRCm39)	H334L	probably benign	Het
Dab1	A	G	4: 104,336,439 (GRCm39)	K12E	possibly damaging	Het
Efcab3	A	T	11: 104,709,463 (GRCm39)	D1815V	probably benign	Het
Emsy	T	C	7: 98,304,037 (GRCm39)		probably benign	Het
Etv4	G	T	11: 101,674,827 (GRCm39)	D56E	probably damaging	Het
Exoc3l2	C	T	7: 19,215,190 (GRCm39)	R484*	probably null	Het
Extl1	A	G	4: 134,098,603 (GRCm39)	C143R	probably benign	Het
Fat3	T	C	9: 16,286,563 (GRCm39)	I987V	possibly damaging	Het
Fbn1	A	C	2: 125,151,722 (GRCm39)	C2511G	probably damaging	Het
Fer	T	A	17: 64,280,144 (GRCm39)	S72T	probably benign	Het
Gdf2	A	G	14: 33,666,797 (GRCm39)	D173G	probably damaging	Het
Grhl3	T	C	4: 135,284,176 (GRCm39)	E222G	probably benign	Het
Gria1	A	T	11: 57,218,410 (GRCm39)	M819L	probably benign	Het
Gsap	A	T	5: 21,427,432 (GRCm39)	R187*	probably null	Het
Heatr6	A	G	11: 83,656,679 (GRCm39)	N314D	probably benign	Het
Hspd1	T	C	1: 55,117,505 (GRCm39)	D555G	probably benign	Het
Ighv3-4	T	C	12: 114,217,649 (GRCm39)	Y8C	probably benign	Het
Lcmt2	A	G	2: 120,970,729 (GRCm39)	V118A	probably damaging	Het
Lmf2	T	C	15: 89,239,005 (GRCm39)	E37G	possibly damaging	Het
Macf1	A	G	4: 123,346,795 (GRCm39)	L1161P	probably damaging	Het
Mbip	T	A	12: 56,377,054 (GRCm39)		probably null	Het
Mgam	A	T	6: 40,671,460 (GRCm39)		probably null	Het
Mmrn1	G	A	6: 60,965,380 (GRCm39)	S1136N	probably damaging	Het
Mms22l	T	C	4: 24,502,943 (GRCm39)	V73A	possibly damaging	Het
Mtbp	C	T	15: 55,449,748 (GRCm39)	L24F	probably damaging	Het
Ncr1	T	A	7: 4,341,120 (GRCm39)	I37N	probably benign	Het
Nkx3-1	A	G	14: 69,429,507 (GRCm39)	N175S	probably damaging	Het
Nlrp4f	A	G	13: 65,342,145 (GRCm39)	I500T	possibly damaging	Het
Or10a3	T	A	7: 108,479,973 (GRCm39)	Q280L	possibly damaging	Het
Or1e1f	C	T	11: 73,856,223 (GRCm39)	S263L	possibly damaging	Het
Or6c33	A	G	10: 129,853,445 (GRCm39)	T72A	probably damaging	Het
Pcdha2	A	G	18: 37,074,325 (GRCm39)	D652G	probably damaging	Het
Pde6a	T	A	18: 61,354,018 (GRCm39)	N114K	probably damaging	Het
Pdp2	A	G	8: 105,320,913 (GRCm39)	E254G	probably benign	Het
Prkdc	T	A	16: 15,469,400 (GRCm39)	D168E	probably damaging	Het
Psg27	A	T	7: 18,296,015 (GRCm39)	H143Q	probably benign	Het
Serpina16	T	A	12: 103,638,796 (GRCm39)	I264F	probably benign	Het
Slc25a41	G	A	17: 57,348,582 (GRCm39)	H4Y	probably benign	Het
Slco1a8	T	G	6: 141,949,115 (GRCm39)	H87P	probably damaging	Het
Smc3	T	G	19: 53,617,142 (GRCm39)	H518Q	probably benign	Het
Snrpb	G	T	2: 130,015,042 (GRCm39)	T158K	probably damaging	Het
Sobp	A	G	10: 42,898,392 (GRCm39)	F398L	probably damaging	Het
Spidr	T	A	16: 15,958,591 (GRCm39)	Q57L	probably benign	Het
Srd5a3	T	G	5: 76,297,648 (GRCm39)	V26G	possibly damaging	Het
Stx17	A	G	4: 48,166,972 (GRCm39)	T131A	probably benign	Het
Susd1	A	G	4: 59,332,985 (GRCm39)	L553P	possibly damaging	Het
Tbc1d30	C	A	10: 121,187,009 (GRCm39)	G59C	probably benign	Het
Tekt1	T	C	11: 72,242,850 (GRCm39)	D219G	possibly damaging	Het
Trav9d-1	A	T	14: 53,030,163 (GRCm39)	D89V	possibly damaging	Het
Trim34b	T	C	7: 103,980,545 (GRCm39)	I211T	probably benign	Het
Vmn1r25	A	T	6: 57,955,531 (GRCm39)	L253M	possibly damaging	Het
Vmn1r56	C	T	7: 5,198,904 (GRCm39)	V238M	probably damaging	Het
Wipf3	A	G	6: 54,466,070 (GRCm39)	I443V	probably benign	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
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'- CAGTCTAGAAGGGTGCTGAG -3'
(R):5'- TTACCCCAGAAGTGTGAATGG -3'

Sequencing Primer
(F):5'- GCTGAGGTTGGAGGTAAATCC -3'
(R):5'- TGGCATGACCAGCCCCATTC -3'

Posted On

2021-01-18