Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01827:Lipn'

154697

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Lipn

Ensembl Gene

ENSMUSG00000024770

Gene Name

lipase, family member N

Synonyms

2210418G03Rik, Lipl4

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01827

Quality Score

Status

Chromosome

Chromosomal Location

34044758-34062318 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 34046880 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 61 (I61F)

Ref Sequence

ENSEMBL: ENSMUSP00000114551 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025682] [ENSMUST00000126710] [ENSMUST00000148821]

AlphaFold

Q3U4B4

Predicted Effect

probably damaging
Transcript: ENSMUST00000025682
AA Change: I61F

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

SMART Domains

Protein: ENSMUSP00000025682
Gene: ENSMUSG00000024770
AA Change: I61F

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
Pfam:Abhydro_lipase	38	100	1.4e-22	PFAM
Pfam:Abhydrolase_5	81	376	1.6e-10	PFAM
Pfam:Abhydrolase_1	81	382	1.2e-28	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000117028

Predicted Effect

probably damaging
Transcript: ENSMUST00000126710
AA Change: I61F

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

SMART Domains

Protein: ENSMUSP00000114551
Gene: ENSMUSG00000024770
AA Change: I61F

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
Pfam:Abhydro_lipase	38	100	6.4e-23	PFAM
Pfam:Abhydrolase_1	114	181	4.4e-12	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000148821
AA Change: I61F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000120184
Gene: ENSMUSG00000024770
AA Change: I61F

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
Pfam:Abhydro_lipase	38	83	2.6e-15	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The gene encodes a lipase that is highly expressed in granular keratinocytes in the epidermis, and plays a role in the differentiation of keratinocytes. Mutations in this gene are associated with lamellar ichthyosis type 4. [provided by RefSeq, Dec 2011]

Allele List at MGI

Other mutations in this stock

Total: 18 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A4galt	A	T	15: 83,112,135 (GRCm39)	I216N	possibly damaging	Het
Catsperb	A	C	12: 101,557,799 (GRCm39)	Y790S	probably benign	Het
Cfap161	T	C	7: 83,442,648 (GRCm39)	Q55R	possibly damaging	Het
Col6a3	T	C	1: 90,730,041 (GRCm39)	D1148G	probably damaging	Het
Dennd4a	C	T	9: 64,749,843 (GRCm39)	R145*	probably null	Het
Hrh3	T	C	2: 179,745,739 (GRCm39)	N69S	possibly damaging	Het
Lrwd1	C	A	5: 136,160,372 (GRCm39)	E321*	probably null	Het
Ltk	C	T	2: 119,583,219 (GRCm39)	V343M	probably damaging	Het
Mafb	C	T	2: 160,208,398 (GRCm39)	V67M	probably damaging	Het
Nip7	A	T	8: 107,783,723 (GRCm39)		probably null	Het
Polrmt	T	C	10: 79,573,954 (GRCm39)	T964A	probably damaging	Het
Pygm	A	G	19: 6,440,407 (GRCm39)	T484A	probably damaging	Het
Snx9	G	A	17: 5,937,287 (GRCm39)	D10N	probably benign	Het
Tek	A	C	4: 94,627,882 (GRCm39)	D2A	probably benign	Het
Ttn	T	C	2: 76,624,828 (GRCm39)	D15250G	probably damaging	Het
Usp34	G	A	11: 23,386,020 (GRCm39)	R2149H	probably damaging	Het
Vmn2r74	T	A	7: 85,606,800 (GRCm39)	H182L	probably benign	Het
Zgrf1	T	C	3: 127,409,930 (GRCm39)	V1739A	probably benign	Het

Other mutations in Lipn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01288:Lipn	APN	19	34,056,435 (GRCm39)	missense	probably benign	0.06
IGL01320:Lipn	APN	19	34,062,040 (GRCm39)	missense	probably benign	0.07
IGL02252:Lipn	APN	19	34,049,157 (GRCm39)	missense	probably benign	0.01
IGL02422:Lipn	APN	19	34,046,063 (GRCm39)	missense	probably benign	0.00
R0081:Lipn	UTSW	19	34,054,376 (GRCm39)	missense	probably benign	0.00
R0284:Lipn	UTSW	19	34,058,106 (GRCm39)	missense	possibly damaging	0.87
R0539:Lipn	UTSW	19	34,062,003 (GRCm39)	unclassified	probably benign
R0749:Lipn	UTSW	19	34,054,379 (GRCm39)	missense	probably damaging	1.00
R1170:Lipn	UTSW	19	34,049,158 (GRCm39)	missense	probably benign	0.23
R1528:Lipn	UTSW	19	34,046,070 (GRCm39)	missense	probably damaging	0.96
R1621:Lipn	UTSW	19	34,046,113 (GRCm39)	missense	probably benign
R1675:Lipn	UTSW	19	34,058,110 (GRCm39)	missense	probably damaging	1.00
R1869:Lipn	UTSW	19	34,058,139 (GRCm39)	missense	possibly damaging	0.93
R3236:Lipn	UTSW	19	34,046,138 (GRCm39)	missense	probably benign	0.17
R3237:Lipn	UTSW	19	34,046,138 (GRCm39)	missense	probably benign	0.17
R3832:Lipn	UTSW	19	34,046,933 (GRCm39)	critical splice donor site	probably null
R3876:Lipn	UTSW	19	34,046,828 (GRCm39)	missense	probably benign	0.00
R4084:Lipn	UTSW	19	34,056,340 (GRCm39)	missense	probably benign	0.04
R4595:Lipn	UTSW	19	34,058,750 (GRCm39)	missense	probably damaging	1.00
R5963:Lipn	UTSW	19	34,058,700 (GRCm39)	missense	probably damaging	0.97
R6018:Lipn	UTSW	19	34,054,335 (GRCm39)	missense	probably damaging	1.00
R6797:Lipn	UTSW	19	34,058,160 (GRCm39)	missense	probably benign
R7090:Lipn	UTSW	19	34,049,180 (GRCm39)	missense	possibly damaging	0.72
R7157:Lipn	UTSW	19	34,054,390 (GRCm39)	nonsense	probably null
R7458:Lipn	UTSW	19	34,049,242 (GRCm39)	missense	probably benign	0.10
R8824:Lipn	UTSW	19	34,062,116 (GRCm39)	missense	probably benign	0.04
R8894:Lipn	UTSW	19	34,062,248 (GRCm39)	makesense	probably null
R8933:Lipn	UTSW	19	34,046,880 (GRCm39)	missense	probably damaging	0.98
R9054:Lipn	UTSW	19	34,054,376 (GRCm39)	missense	possibly damaging	0.56
R9117:Lipn	UTSW	19	34,046,041 (GRCm39)	missense	probably damaging	1.00

Posted On

2014-02-04