Mutagenetix > Incidental Mutation

Incidental Mutation 'R5963:Lipn'

471915

Institutional Source

Beutler Lab

Gene Symbol

Lipn

Ensembl Gene

ENSMUSG00000024770

Gene Name

lipase, family member N

Synonyms

2210418G03Rik, Lipl4

MMRRC Submission

044148-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5963 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

34044758-34062318 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 34058700 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 304 (D304G)

Ref Sequence

ENSEMBL: ENSMUSP00000025682 (fasta)

Gene Model

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

AlphaFold

Q3U4B4

Predicted Effect

probably damaging
Transcript: ENSMUST00000025682
AA Change: D304G

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000025682
Gene: ENSMUSG00000024770
AA Change: D304G

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

probably benign
Transcript: ENSMUST00000148821

SMART Domains

Protein: ENSMUSP00000120184
Gene: ENSMUSG00000024770

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

Meta Mutation Damage Score

0.1284

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 92.5%

Validation Efficiency

99% (68/69)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alg8	A	G	7: 97,029,037 (GRCm39)	K131E	probably benign	Het
Ank3	T	A	10: 69,823,056 (GRCm39)	L575*	probably null	Het
Aqr	T	C	2: 113,957,442 (GRCm39)	T819A	probably damaging	Het
Bbs2	A	T	8: 94,807,659 (GRCm39)	S407T	probably benign	Het
Bmper	T	A	9: 23,286,889 (GRCm39)	C272S	probably benign	Het
Btbd9	C	T	17: 30,553,192 (GRCm39)		probably null	Het
C5ar1	A	G	7: 15,982,747 (GRCm39)	V91A	possibly damaging	Het
Ccdc138	A	G	10: 58,411,579 (GRCm39)	H649R	possibly damaging	Het
Cfap43	A	T	19: 47,734,013 (GRCm39)	V1451E	probably benign	Het
Cfap46	T	A	7: 139,231,511 (GRCm39)	M901L	probably damaging	Het
Cherp	G	T	8: 73,215,379 (GRCm39)		probably benign	Het
D430041D05Rik	C	T	2: 104,078,630 (GRCm39)	V1229I	possibly damaging	Het
Fat4	A	C	3: 39,064,696 (GRCm39)	D4884A	probably damaging	Het
Fcrl5	T	C	3: 87,351,480 (GRCm39)	F243L	probably damaging	Het
Garem1	T	A	18: 21,262,487 (GRCm39)	I776F	probably benign	Het
Gpr87	T	A	3: 59,086,690 (GRCm39)	R272*	probably null	Het
Gsdmc	A	T	15: 63,651,965 (GRCm39)		probably null	Het
Hydin	T	A	8: 111,220,926 (GRCm39)	F1441I	possibly damaging	Het
Ints11	T	A	4: 155,957,369 (GRCm39)	C63*	probably null	Het
Kdm4b	A	T	17: 56,706,732 (GRCm39)	T908S	probably damaging	Het
Man2a1	T	G	17: 64,982,117 (GRCm39)	N544K	probably benign	Het
Mapkapk5	G	T	5: 121,676,544 (GRCm39)	H66N	probably damaging	Het
Mog	G	A	17: 37,323,240 (GRCm39)	R233*	probably null	Het
Mrps24	A	T	11: 5,657,481 (GRCm39)		probably benign	Het
Nom1	T	C	5: 29,642,768 (GRCm39)	L423P	probably damaging	Het
Or51b6	T	A	7: 103,556,168 (GRCm39)	V174E	probably benign	Het
Pcdha1	T	A	18: 37,064,224 (GRCm39)	V296E	probably damaging	Het
Pdcd2	T	C	17: 15,746,656 (GRCm39)	K168E	possibly damaging	Het
Pdcd2	G	T	17: 15,746,657 (GRCm39)	H167Q	probably damaging	Het
Pla2g12b	T	A	10: 59,239,780 (GRCm39)	V63D	probably damaging	Het
Pnn	C	T	12: 59,114,617 (GRCm39)	R56*	probably null	Het
Primpol	T	A	8: 47,046,615 (GRCm39)	E227V	possibly damaging	Het
Rad54l	A	T	4: 115,967,584 (GRCm39)	W233R	probably damaging	Het
Rims2	A	T	15: 39,300,578 (GRCm39)	D103V	probably damaging	Het
Rttn	T	C	18: 89,091,819 (GRCm39)	S1511P	probably benign	Het
Septin5	T	C	16: 18,442,962 (GRCm39)		probably null	Het
Simc1	T	A	13: 54,673,632 (GRCm39)	I660K	possibly damaging	Het
Slc15a5	A	G	6: 138,056,691 (GRCm39)	L75P	probably damaging	Het
Slc9a2	A	G	1: 40,721,196 (GRCm39)	S55G	possibly damaging	Het
Slit3	C	T	11: 35,591,063 (GRCm39)	R1292C	probably damaging	Het
Slitrk3	A	G	3: 72,958,046 (GRCm39)	V242A	probably benign	Het
St14	A	T	9: 31,017,853 (GRCm39)		probably benign	Het
Tnnt2	T	C	1: 135,771,600 (GRCm39)		probably benign	Het
Traf5	G	A	1: 191,731,977 (GRCm39)	T288I	probably benign	Het
Trerf1	C	T	17: 47,625,263 (GRCm39)		noncoding transcript	Het
Vegfc	A	G	8: 54,634,319 (GRCm39)	N333D	probably benign	Het
Vmn1r65	T	A	7: 6,011,608 (GRCm39)	I209F	probably damaging	Het
Vps51	A	G	19: 6,118,320 (GRCm39)	L725P	probably damaging	Het
Vps8	T	C	16: 21,288,871 (GRCm39)	I408T	possibly damaging	Het
Wdr72	T	C	9: 74,052,310 (GRCm39)	Y114H	probably damaging	Het
Ybx2	A	G	11: 69,831,918 (GRCm39)	E164G	probably damaging	Het
Zcchc14	A	T	8: 122,355,362 (GRCm39)		probably benign	Het
Zfp383	A	G	7: 29,615,103 (GRCm39)	T453A	possibly damaging	Het
Zfp84	G	T	7: 29,476,378 (GRCm39)	G357C	probably damaging	Het
Zmynd11	G	T	13: 9,745,931 (GRCm39)		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
IGL01827:Lipn	APN	19	34,046,880 (GRCm39)	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- ATGTGACTTTCTAACGGGGC -3'
(R):5'- CCTCTAGGTAGAGTGAATGCAAG -3'

Sequencing Primer
(F):5'- CTAACGGGGCTTATTTGTCCATTAAG -3'
(R):5'- GTAGAGTGAATGCAAGAGATTTACTC -3'

Posted On

2017-03-31