Mutagenetix > Incidental Mutation

Incidental Mutation 'R3714:Lipk'

259828

Institutional Source

Beutler Lab

Gene Symbol

Lipk

Ensembl Gene

ENSMUSG00000024771

Gene Name

lipase, family member K

Synonyms

Lipl2

MMRRC Submission

040707-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.060) question?

Stock #

R3714 (G1)

Quality Score

Status

Not validated

Chromosome

Chromosomal Location

33985690-34025235 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 34017829 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 289 (N289S)

Ref Sequence

ENSEMBL: ENSMUSP00000152955 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000054260] [ENSMUST00000224738] [ENSMUST00000225505]

AlphaFold

Q8BM14

Predicted Effect

possibly damaging
Transcript: ENSMUST00000054260
AA Change: N294S

PolyPhen 2 Score 0.849 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000053913
Gene: ENSMUSG00000024771
AA Change: N294S

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
Pfam:Abhydro_lipase	39	101	2.8e-26	PFAM
Pfam:Hydrolase_4	78	263	7.1e-10	PFAM
Pfam:Abhydrolase_5	82	377	7.1e-11	PFAM
Pfam:Abhydrolase_1	82	383	8.6e-29	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000224738

Predicted Effect

probably damaging
Transcript: ENSMUST00000225505
AA Change: N289S

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

Meta Mutation Damage Score

0.1701

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930111J21Rik1	T	C	11: 48,838,803 (GRCm39)	T595A	possibly damaging	Het
Abcd4	C	T	12: 84,658,533 (GRCm39)	M223I	probably benign	Het
Adck5	G	A	15: 76,478,138 (GRCm39)	V229I	probably damaging	Het
Afg2a	G	A	3: 37,487,358 (GRCm39)	V407I	probably benign	Het
Ankk1	T	G	9: 49,333,013 (GRCm39)	D157A	possibly damaging	Het
Atp1a2	A	G	1: 172,106,551 (GRCm39)	I817T	probably damaging	Het
Ccdc87	A	G	19: 4,890,287 (GRCm39)	S260G	probably benign	Het
Cers3	G	T	7: 66,435,823 (GRCm39)	A261S	probably benign	Het
Cibar2	C	T	8: 120,901,576 (GRCm39)	R43H	probably damaging	Het
Cntnap5c	C	T	17: 58,199,062 (GRCm39)	Q119*	probably null	Het
Cpb2	T	A	14: 75,520,657 (GRCm39)		probably null	Het
Ddx47	T	A	6: 134,996,025 (GRCm39)	I329K	probably damaging	Het
Elavl3	G	T	9: 21,929,895 (GRCm39)	D336E	probably benign	Het
Fcsk	G	T	8: 111,613,891 (GRCm39)	D723E	probably damaging	Het
Fras1	T	C	5: 96,793,829 (GRCm39)		probably null	Het
Garem1	T	A	18: 21,281,947 (GRCm39)	E136D	probably damaging	Het
Haus6	A	G	4: 86,521,104 (GRCm39)	I178T	probably benign	Het
Igkv3-2	T	G	6: 70,675,480 (GRCm39)	V10G	possibly damaging	Het
Jrkl	A	C	9: 13,244,236 (GRCm39)	I475R	possibly damaging	Het
Lcmt1	C	T	7: 123,003,683 (GRCm39)	H146Y	probably damaging	Het
Mb	A	G	15: 76,901,789 (GRCm39)	V102A	probably benign	Het
Mc4r	T	A	18: 66,992,892 (GRCm39)	N74Y	probably damaging	Het
Mink1	G	T	11: 70,499,776 (GRCm39)	R773L	possibly damaging	Het
Mroh2b	A	G	15: 4,973,131 (GRCm39)	I1045V	probably benign	Het
Myo15a	A	T	11: 60,370,057 (GRCm39)	E939V	possibly damaging	Het
Ndufs7	T	C	10: 80,088,255 (GRCm39)	I14T	probably benign	Het
Nlrp4b	T	C	7: 10,448,808 (GRCm39)	V337A	probably benign	Het
Npm2	T	C	14: 70,890,060 (GRCm39)		probably null	Het
Or10ab4	T	C	7: 107,654,642 (GRCm39)	F151S	probably damaging	Het
Or2h2c	A	G	17: 37,422,227 (GRCm39)	Y216H	probably damaging	Het
Or4a68	G	A	2: 89,269,727 (GRCm39)	L299F	probably damaging	Het
Prdm9	T	A	17: 15,777,623 (GRCm39)	K154*	probably null	Het
Prkch	C	T	12: 73,822,290 (GRCm39)	P630S	probably damaging	Het
Ptprn	T	C	1: 75,229,411 (GRCm39)		probably null	Het
Rnf31	T	A	14: 55,840,851 (GRCm39)	D884E	probably damaging	Het
Semp2l2a	T	G	8: 13,886,736 (GRCm39)	I452L	probably benign	Het
Slc22a27	A	T	19: 7,903,815 (GRCm39)	N107K	possibly damaging	Het
Tln1	G	T	4: 43,540,597 (GRCm39)	A1468D	probably damaging	Het
Tmem185b	T	A	1: 119,454,781 (GRCm39)	F181I	possibly damaging	Het
Tmem63a	G	A	1: 180,790,679 (GRCm39)	D446N	possibly damaging	Het
Trappc11	T	C	8: 47,958,351 (GRCm39)		probably benign	Het
Vmn1r218	A	T	13: 23,321,081 (GRCm39)	N63Y	probably damaging	Het
Vps37c	A	G	19: 10,683,632 (GRCm39)	D18G	probably damaging	Het

Other mutations in Lipk

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02473:Lipk	APN	19	34,016,548 (GRCm39)	missense	probably damaging	1.00
IGL02538:Lipk	APN	19	34,024,279 (GRCm39)	missense	probably damaging	0.99
IGL03015:Lipk	APN	19	33,996,108 (GRCm39)	missense	probably benign
R0240:Lipk	UTSW	19	34,024,210 (GRCm39)	missense	probably benign	0.00
R0240:Lipk	UTSW	19	34,024,210 (GRCm39)	missense	probably benign	0.00
R1456:Lipk	UTSW	19	34,024,185 (GRCm39)	missense	probably damaging	1.00
R1822:Lipk	UTSW	19	34,016,491 (GRCm39)	missense	probably benign	0.01
R2149:Lipk	UTSW	19	33,999,017 (GRCm39)	missense	possibly damaging	0.79
R2988:Lipk	UTSW	19	33,999,137 (GRCm39)	missense	probably damaging	1.00
R3715:Lipk	UTSW	19	34,017,829 (GRCm39)	missense	probably damaging	0.99
R3741:Lipk	UTSW	19	33,999,107 (GRCm39)	missense	probably damaging	1.00
R4229:Lipk	UTSW	19	33,997,687 (GRCm39)	missense	probably damaging	1.00
R4720:Lipk	UTSW	19	33,999,099 (GRCm39)	missense	probably damaging	1.00
R4837:Lipk	UTSW	19	34,009,720 (GRCm39)	missense	probably damaging	1.00
R5329:Lipk	UTSW	19	33,997,613 (GRCm39)	splice site	probably null
R5661:Lipk	UTSW	19	34,009,727 (GRCm39)	missense	probably benign	0.41
R5887:Lipk	UTSW	19	34,016,507 (GRCm39)	missense	possibly damaging	0.67
R6967:Lipk	UTSW	19	34,017,794 (GRCm39)	nonsense	probably null
R8465:Lipk	UTSW	19	34,024,197 (GRCm39)	missense	probably benign	0.04
R8724:Lipk	UTSW	19	33,996,120 (GRCm39)	missense	probably benign	0.00
R8747:Lipk	UTSW	19	33,996,184 (GRCm39)	missense	probably damaging	1.00
R9136:Lipk	UTSW	19	33,999,830 (GRCm39)	missense	probably damaging	1.00
R9480:Lipk	UTSW	19	33,999,101 (GRCm39)	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- TGACTATAGAGGCCCTCTTTGG -3'
(R):5'- CCTACACGGAACTCTCTGGAAC -3'

Sequencing Primer
(F):5'- CTGTCAGCTAAGGACTAGATTATGG -3'
(R):5'- ACGGAACTCTCTGGAACTATACTTC -3'

Posted On

2015-01-23