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: 0.059) question?

Stock #

R3714 (G1)

Quality Score

Status

Not validated

Chromosome

Chromosomal Location

34008290-34047835 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 34040429 bp (GRCm38)

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: 48,947,976	T595A	possibly damaging	Het
Abcd4	C	T	12: 84,611,759	M223I	probably benign	Het
Adck5	G	A	15: 76,593,938	V229I	probably damaging	Het
AF366264	T	G	8: 13,836,736	I452L	probably benign	Het
Ankk1	T	G	9: 49,421,713	D157A	possibly damaging	Het
Atp1a2	A	G	1: 172,278,984	I817T	probably damaging	Het
Ccdc87	A	G	19: 4,840,259	S260G	probably benign	Het
Cers3	G	T	7: 66,786,075	A261S	probably benign	Het
Cntnap5c	C	T	17: 57,892,067	Q119*	probably null	Het
Cpb2	T	A	14: 75,283,217		probably null	Het
Ddx47	T	A	6: 135,019,062	I329K	probably damaging	Het
Elavl3	G	T	9: 22,018,599	D336E	probably benign	Het
Fam92b	C	T	8: 120,174,837	R43H	probably damaging	Het
Fras1	T	C	5: 96,645,970		probably null	Het
Fuk	G	T	8: 110,887,259	D723E	probably damaging	Het
Garem1	T	A	18: 21,148,890	E136D	probably damaging	Het
Haus6	A	G	4: 86,602,867	I178T	probably benign	Het
Igkv3-2	T	G	6: 70,698,496	V10G	possibly damaging	Het
Jrkl	A	C	9: 13,244,231	I475R	possibly damaging	Het
Lcmt1	C	T	7: 123,404,460	H146Y	probably damaging	Het
Mb	A	G	15: 77,017,589	V102A	probably benign	Het
Mc4r	T	A	18: 66,859,821	N74Y	probably damaging	Het
Mink1	G	T	11: 70,608,950	R773L	possibly damaging	Het
Mroh2b	A	G	15: 4,943,649	I1045V	probably benign	Het
Myo15	A	T	11: 60,479,231	E939V	possibly damaging	Het
Ndufs7	T	C	10: 80,252,421	I14T	probably benign	Het
Nlrp4b	T	C	7: 10,714,881	V337A	probably benign	Het
Npm2	T	C	14: 70,652,620		probably null	Het
Olfr1240	G	A	2: 89,439,383	L299F	probably damaging	Het
Olfr479	T	C	7: 108,055,435	F151S	probably damaging	Het
Olfr92	A	G	17: 37,111,335	Y216H	probably damaging	Het
Prdm9	T	A	17: 15,557,361	K154*	probably null	Het
Prkch	C	T	12: 73,775,516	P630S	probably damaging	Het
Ptprn	T	C	1: 75,252,767		probably null	Het
Rnf31	T	A	14: 55,603,394	D884E	probably damaging	Het
Slc22a27	A	T	19: 7,926,450	N107K	possibly damaging	Het
Spata5	G	A	3: 37,433,209	V407I	probably benign	Het
Tln1	G	T	4: 43,540,597	A1468D	probably damaging	Het
Tmem185b	T	A	1: 119,527,051	F181I	possibly damaging	Het
Tmem63a	G	A	1: 180,963,114	D446N	possibly damaging	Het
Trappc11	T	C	8: 47,505,316		probably benign	Het
Vmn1r218	A	T	13: 23,136,911	N63Y	probably damaging	Het
Vps37c	A	G	19: 10,706,268	D18G	probably damaging	Het

Other mutations in Lipk

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02473:Lipk	APN	19	34039148	missense	probably damaging	1.00
IGL02538:Lipk	APN	19	34046879	missense	probably damaging	0.99
IGL03015:Lipk	APN	19	34018708	missense	probably benign
R0240:Lipk	UTSW	19	34046810	missense	probably benign	0.00
R0240:Lipk	UTSW	19	34046810	missense	probably benign	0.00
R1456:Lipk	UTSW	19	34046785	missense	probably damaging	1.00
R1822:Lipk	UTSW	19	34039091	missense	probably benign	0.01
R2149:Lipk	UTSW	19	34021617	missense	possibly damaging	0.79
R2988:Lipk	UTSW	19	34021737	missense	probably damaging	1.00
R3715:Lipk	UTSW	19	34040429	missense	probably damaging	0.99
R3741:Lipk	UTSW	19	34021707	missense	probably damaging	1.00
R4229:Lipk	UTSW	19	34020287	missense	probably damaging	1.00
R4720:Lipk	UTSW	19	34021699	missense	probably damaging	1.00
R4837:Lipk	UTSW	19	34032320	missense	probably damaging	1.00
R5329:Lipk	UTSW	19	34020213	splice site	probably null
R5661:Lipk	UTSW	19	34032327	missense	probably benign	0.41
R5887:Lipk	UTSW	19	34039107	missense	possibly damaging	0.67
R6967:Lipk	UTSW	19	34040394	nonsense	probably null
R8465:Lipk	UTSW	19	34046797	missense	probably benign	0.04
R8724:Lipk	UTSW	19	34018720	missense	probably benign	0.00
R8747:Lipk	UTSW	19	34018784	missense	probably damaging	1.00
R9136:Lipk	UTSW	19	34022430	missense	probably damaging	1.00
R9480:Lipk	UTSW	19	34021701	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