Mutagenetix > Incidental Mutation

Incidental Mutation 'R5661:Lipk'

444113

Institutional Source

Beutler Lab

Gene Symbol

Lipk

Ensembl Gene

ENSMUSG00000024771

Gene Name

lipase, family member K

Synonyms

Lipl2

MMRRC Submission

043304-MU

Accession Numbers

Essential gene?

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

Stock #

R5661 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

33985690-34025235 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 34009727 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 215 (M215K)

Ref Sequence

ENSEMBL: ENSMUSP00000053913 (fasta)

Gene Model

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

AlphaFold

Q8BM14

Predicted Effect

probably benign
Transcript: ENSMUST00000054260
AA Change: M215K

PolyPhen 2 Score 0.410 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000053913
Gene: ENSMUSG00000024771
AA Change: M215K

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 benign
Transcript: ENSMUST00000225505
AA Change: M210K

PolyPhen 2 Score 0.226 (Sensitivity: 0.91; Specificity: 0.88)

Meta Mutation Damage Score

0.1051

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.4%

Validation Efficiency

97% (57/59)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actg2	A	G	6: 83,497,754 (GRCm39)	I166T	probably damaging	Het
Actn1	T	C	12: 80,231,618 (GRCm39)	E273G	probably benign	Het
Arhgap15	G	A	2: 44,212,739 (GRCm39)	R403H	possibly damaging	Het
Arhgef26	T	C	3: 62,285,075 (GRCm39)		probably benign	Het
Avl9	A	T	6: 56,702,087 (GRCm39)	R81*	probably null	Het
Brd3	G	A	2: 27,351,584 (GRCm39)	T223I	possibly damaging	Het
Cacna2d4	T	C	6: 119,320,492 (GRCm39)	M890T	probably benign	Het
Carm1	A	G	9: 21,498,295 (GRCm39)	D433G	probably benign	Het
Ccdc40	A	G	11: 119,128,753 (GRCm39)	K427E	probably benign	Het
Ccdc80	T	C	16: 44,947,808 (GRCm39)	Y929H	probably damaging	Het
Ccr9	A	C	9: 123,609,164 (GRCm39)	Y282S	probably benign	Het
Det1	C	T	7: 78,492,958 (GRCm39)	E349K	probably damaging	Het
Enpep	T	A	3: 129,070,406 (GRCm39)	N834Y	probably damaging	Het
Epha7	A	T	4: 28,946,217 (GRCm39)		probably null	Het
Fap	A	T	2: 62,367,307 (GRCm39)		probably benign	Het
Foxn4	A	G	5: 114,411,053 (GRCm39)	C23R	probably benign	Het
Gad1-ps	T	C	10: 99,280,901 (GRCm39)		noncoding transcript	Het
Gli2	C	A	1: 118,781,032 (GRCm39)	E238*	probably null	Het
Gm20939	C	A	17: 95,183,207 (GRCm39)	H148N	probably damaging	Het
Gnl1	T	C	17: 36,293,447 (GRCm39)	Y211H	probably benign	Het
Gpat3	A	T	5: 101,033,808 (GRCm39)	K221*	probably null	Het
Hjurp	G	C	1: 88,204,937 (GRCm39)		probably benign	Het
Hnrnph1	A	T	11: 50,275,507 (GRCm39)	Q415L	probably benign	Het
Kansl3	T	C	1: 36,388,038 (GRCm39)	E383G	possibly damaging	Het
Kdm5b	T	C	1: 134,526,811 (GRCm39)	V311A	probably benign	Het
Madd	A	G	2: 90,984,778 (GRCm39)		probably null	Het
Meltf	A	G	16: 31,700,744 (GRCm39)	E88G	possibly damaging	Het
Mis18bp1	A	T	12: 65,195,626 (GRCm39)	S713T	probably benign	Het
Mocos	T	A	18: 24,799,052 (GRCm39)		probably null	Het
Msto1	T	A	3: 88,820,192 (GRCm39)	D88V	possibly damaging	Het
Myo5a	A	G	9: 75,074,488 (GRCm39)	Y799C	probably benign	Het
Nectin4	T	A	1: 171,212,738 (GRCm39)	L357H	probably damaging	Het
Or4p22	G	A	2: 88,317,441 (GRCm39)	V122M	probably damaging	Het
Or6c2	A	T	10: 129,362,618 (GRCm39)	H174L	probably benign	Het
Pax2	A	G	19: 44,779,161 (GRCm39)	N179S	probably damaging	Het
Pcdhac2	C	A	18: 37,278,499 (GRCm39)	T493K	probably damaging	Het
Pgk2	G	T	17: 40,518,287 (GRCm39)	C380*	probably null	Het
Pi4k2b	G	A	5: 52,900,906 (GRCm39)		probably null	Het
Plcb3	A	G	19: 6,940,588 (GRCm39)	V416A	probably damaging	Het
Pom121l2	G	A	13: 22,168,425 (GRCm39)	G899R	possibly damaging	Het
Ppp4r1	T	C	17: 66,110,963 (GRCm39)		probably null	Het
Prkdc	G	A	16: 15,628,634 (GRCm39)	E3460K	possibly damaging	Het
Psmb3	A	G	11: 97,597,659 (GRCm39)	E75G	possibly damaging	Het
Retnlb	C	T	16: 48,638,429 (GRCm39)	T50I	probably benign	Het
Sec16a	A	G	2: 26,329,649 (GRCm39)	S789P	probably benign	Het
Sec24d	C	T	3: 123,136,734 (GRCm39)	T489I	probably damaging	Het
Sec24d	T	C	3: 123,136,791 (GRCm39)	M508T	possibly damaging	Het
Slc5a8	C	T	10: 88,755,290 (GRCm39)	L466F	possibly damaging	Het
Terf1	T	A	1: 15,889,888 (GRCm39)	V221E	probably damaging	Het
Trak1	A	G	9: 121,272,703 (GRCm39)	N187S	possibly damaging	Het
Trappc11	T	A	8: 47,965,642 (GRCm39)	D528V	probably damaging	Het
Tut4	A	G	4: 108,370,384 (GRCm39)	D761G	probably benign	Het
Vmn1r170	A	G	7: 23,306,231 (GRCm39)	N211S	possibly damaging	Het
Zfpm2	G	A	15: 40,959,467 (GRCm39)	W50*	probably null	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
R3714:Lipk	UTSW	19	34,017,829 (GRCm39)	missense	probably damaging	0.99
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
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'- GAAAGAGCCAATTGTACCCTTG -3'
(R):5'- TCAGCAAACCTCCATGGAAG -3'

Sequencing Primer
(F):5'- CCACATTAATAGTCCTCACAGTTTG -3'
(R):5'- ACCTCCATGGAAGCTTGATC -3'

Posted On

2016-11-09