Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02473:Lipk'

294825

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: 0.053) question?

Stock #

IGL02473

Quality Score

Status

Chromosome

Chromosomal Location

33985690-34025235 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 34016548 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 254 (C254S)

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: C259S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000053913
Gene: ENSMUSG00000024771
AA Change: C259S

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: C254S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730480H06Rik	G	A	5: 48,545,440 (GRCm39)		probably benign	Het
9030624G23Rik	A	G	12: 24,094,853 (GRCm39)	F106S	probably benign	Het
A930011G23Rik	T	C	5: 99,370,854 (GRCm39)	Y468C	probably damaging	Het
Abcd3	T	C	3: 121,562,893 (GRCm39)	T515A	possibly damaging	Het
Acrbp	A	G	6: 125,031,661 (GRCm39)	T321A	probably benign	Het
Aldh2	T	C	5: 121,710,141 (GRCm39)	Y398C	probably damaging	Het
Baz2b	T	A	2: 59,790,407 (GRCm39)	D602V	probably benign	Het
Ccdc191	T	C	16: 43,777,257 (GRCm39)	V714A	probably benign	Het
Cdc45	C	T	16: 18,617,479 (GRCm39)	M200I	probably benign	Het
Cntn2	A	G	1: 132,446,069 (GRCm39)	L839P	probably benign	Het
Csgalnact1	C	A	8: 68,854,144 (GRCm39)	G219V	probably damaging	Het
Cyp3a16	T	C	5: 145,377,304 (GRCm39)	I428V	possibly damaging	Het
Dnah7b	A	T	1: 46,273,353 (GRCm39)	T2494S	probably damaging	Het
Dnaja3	T	A	16: 4,519,104 (GRCm39)	Y348*	probably null	Het
Dnajb3	C	A	1: 88,133,104 (GRCm39)	E99D	probably benign	Het
Igf2bp3	A	G	6: 49,071,163 (GRCm39)	F411L	probably benign	Het
L3mbtl4	A	T	17: 68,866,772 (GRCm39)	Y337F	possibly damaging	Het
Lias	A	G	5: 65,562,745 (GRCm39)	T258A	possibly damaging	Het
Map4k1	T	C	7: 28,699,297 (GRCm39)	L596S	probably damaging	Het
Mdga2	T	C	12: 66,597,385 (GRCm39)	E703G	possibly damaging	Het
Mreg	A	G	1: 72,201,495 (GRCm39)	Y166H	probably damaging	Het
Or2f1b	A	G	6: 42,739,640 (GRCm39)	Y218C	probably damaging	Het
Or4b1b	T	C	2: 90,112,040 (GRCm39)	K293R	probably null	Het
Pcgf2	A	G	11: 97,582,747 (GRCm39)		probably benign	Het
Prdm15	T	C	16: 97,638,805 (GRCm39)		probably null	Het
Rnf111	A	G	9: 70,348,140 (GRCm39)	V810A	probably damaging	Het
Rpl23a-ps1	A	T	1: 46,020,951 (GRCm39)		noncoding transcript	Het
Smc3	C	A	19: 53,624,879 (GRCm39)	A779E	probably benign	Het
Smtn	C	T	11: 3,482,463 (GRCm39)	G140D	probably damaging	Het
Son	T	C	16: 91,455,683 (GRCm39)	S1477P	probably damaging	Het
Strn	T	C	17: 78,991,722 (GRCm39)	D20G	possibly damaging	Het
Tektl1	A	T	10: 78,586,428 (GRCm39)	S208T	probably benign	Het
Tnxb	T	C	17: 34,936,736 (GRCm39)	L2798P	probably damaging	Het
Ttn	A	C	2: 76,775,896 (GRCm39)	N1715K	probably damaging	Het
Vps33a	A	T	5: 123,707,634 (GRCm39)	I111N	probably damaging	Het
Zfp13	C	T	17: 23,795,072 (GRCm39)	A493T	probably benign	Het
Zscan4d	A	T	7: 10,896,336 (GRCm39)	C345S	probably benign	Het

Other mutations in Lipk

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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