Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02538:Lipk'

297590

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Lipk

Ensembl Gene

ENSMUSG00000024771

Gene Name

lipase, family member K

Synonyms

Lipl2

Accession Numbers

Essential gene?

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

Stock #

IGL02538

Quality Score

Status

Chromosome

Chromosomal Location

33985690-34025235 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 34024279 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 354 (L354Q)

Ref Sequence

ENSEMBL: ENSMUSP00000152955 (fasta)

Gene Model

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

AlphaFold

Q8BM14

Predicted Effect

probably damaging
Transcript: ENSMUST00000054260
AA Change: L359Q

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000053913
Gene: ENSMUSG00000024771
AA Change: L359Q

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: L354Q

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	T	A	2: 69,136,949 (GRCm39)	I171L	possibly damaging	Het
Amdhd1	C	T	10: 93,363,108 (GRCm39)	V327I	probably damaging	Het
Ankrd1	T	C	19: 36,092,456 (GRCm39)	H257R	probably damaging	Het
Ano5	G	A	7: 51,233,523 (GRCm39)	R595H	probably damaging	Het
Atg2a	A	G	19: 6,307,658 (GRCm39)	T1531A	probably benign	Het
Bsn	A	G	9: 107,982,435 (GRCm39)	S1001P	unknown	Het
Btn1a1	T	C	13: 23,643,385 (GRCm39)	T355A	possibly damaging	Het
Cd22	G	T	7: 30,576,985 (GRCm39)	N107K	probably benign	Het
Ceacam10	A	G	7: 24,477,908 (GRCm39)	H141R	probably damaging	Het
Chil3	T	C	3: 106,071,445 (GRCm39)	D73G	probably damaging	Het
Cit	C	T	5: 116,125,048 (GRCm39)	Q1536*	probably null	Het
Dmgdh	T	A	13: 93,845,261 (GRCm39)	I418K	possibly damaging	Het
Efcab6	T	A	15: 83,938,722 (GRCm39)		probably benign	Het
Eif4g2	T	C	7: 110,678,523 (GRCm39)	I110V	probably benign	Het
Fam217a	T	C	13: 35,095,096 (GRCm39)	Y221C	probably damaging	Het
Fezf1	T	A	6: 23,246,557 (GRCm39)	K342N	probably damaging	Het
Git2	A	T	5: 114,869,047 (GRCm39)		probably benign	Het
Gm8126	A	T	14: 43,117,047 (GRCm39)	R63W	probably benign	Het
Ica1l	T	C	1: 60,049,345 (GRCm39)	K203E	probably benign	Het
Iigp1c	A	T	18: 60,378,944 (GRCm39)	K160*	probably null	Het
Inpp5d	A	G	1: 87,623,088 (GRCm39)	M393V	probably null	Het
Kbtbd11	A	G	8: 15,078,841 (GRCm39)	D480G	probably damaging	Het
Klhl1	T	C	14: 96,477,649 (GRCm39)	N473S	probably benign	Het
Krt1c	A	G	15: 101,719,589 (GRCm39)	S694P	unknown	Het
Lhfpl6	C	T	3: 52,950,732 (GRCm39)	A2V	probably benign	Het
Luzp2	T	A	7: 54,861,546 (GRCm39)	L225*	probably null	Het
Mknk1	C	T	4: 115,717,288 (GRCm39)	Q58*	probably null	Het
Mmut	A	T	17: 41,249,510 (GRCm39)	I162F	probably damaging	Het
Nol11	T	A	11: 107,064,199 (GRCm39)	M518L	probably benign	Het
Nubpl	T	C	12: 52,357,477 (GRCm39)		probably benign	Het
Nup35	T	A	2: 80,474,563 (GRCm39)	S93R	possibly damaging	Het
Or2t48	T	C	11: 58,420,816 (GRCm39)		probably benign	Het
Or5ak22	T	A	2: 85,230,647 (GRCm39)	I77F	probably damaging	Het
Pex3	T	C	10: 13,411,344 (GRCm39)	E178G	possibly damaging	Het
Rad23b	C	A	4: 55,370,457 (GRCm39)	P161Q	possibly damaging	Het
Sipa1l2	A	G	8: 126,178,716 (GRCm39)	S1128P	probably damaging	Het
Terb2	T	C	2: 122,035,289 (GRCm39)		probably benign	Het
Trim72	A	G	7: 127,603,942 (GRCm39)	Y96C	probably damaging	Het
Tyk2	T	C	9: 21,022,339 (GRCm39)	D830G	possibly damaging	Het
Uri1	A	G	7: 37,664,916 (GRCm39)	S259P	probably benign	Het
Usp38	A	T	8: 81,712,187 (GRCm39)	L616H	probably damaging	Het
Uspl1	T	A	5: 149,125,269 (GRCm39)	C73S	probably damaging	Het
Wdr7	C	A	18: 63,929,306 (GRCm39)	D1047E	probably benign	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
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
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

Posted On

2015-04-16