Mutagenetix > Incidental Mutation

Incidental Mutation 'R3832:Lipn'

274088

Institutional Source

Beutler Lab

Gene Symbol

Lipn

Ensembl Gene

ENSMUSG00000024770

Gene Name

lipase, family member N

Synonyms

2210418G03Rik, Lipl4

MMRRC Submission

040887-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3832 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

34067358-34084918 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 34069533 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000114551 (fasta)

Gene Model

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

AlphaFold

Q3U4B4

Predicted Effect

probably null
Transcript: ENSMUST00000025682

SMART Domains

Protein: ENSMUSP00000025682
Gene: ENSMUSG00000024770

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 null
Transcript: ENSMUST00000126710

SMART Domains

Protein: ENSMUSP00000114551
Gene: ENSMUSG00000024770

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 null
Transcript: ENSMUST00000126710

SMART Domains

Protein: ENSMUSP00000114551
Gene: ENSMUSG00000024770

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 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

0.9488

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

98% (54/55)

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
Adamts20	A	C	15: 94,331,458	C927G	probably damaging	Het
Afdn	T	A	17: 13,896,174	D190E	probably benign	Het
Aldh1a7	T	C	19: 20,708,238	Y316C	probably damaging	Het
Arhgef38	T	C	3: 133,206,925	R118G	possibly damaging	Het
BC049730	T	A	7: 24,714,287	S243T	probably benign	Het
Bcar3	A	G	3: 122,426,649	D65G	probably damaging	Het
Cacna1i	T	C	15: 80,356,187	F370S	probably damaging	Het
Cacnb2	A	T	2: 14,981,425	I338F	probably damaging	Het
Cblc	T	C	7: 19,792,172	M238V	probably damaging	Het
Ccdc3	A	G	2: 5,229,142	N259S	probably benign	Het
Cep55	A	G	19: 38,053,112		probably benign	Het
Col6a1	T	C	10: 76,711,117	D757G	unknown	Het
Csmd3	CCTTTGCGCTT	CCTT	15: 47,741,236		probably null	Het
Cyb5d2	G	T	11: 72,795,523	S80R	possibly damaging	Het
Cyfip2	T	C	11: 46,261,506	D485G	probably benign	Het
Cyp27b1	G	T	10: 127,051,060	V382L	probably damaging	Het
Erich3	G	A	3: 154,762,361	V817M	probably damaging	Het
Gdf6	T	C	4: 9,844,568	S31P	probably benign	Het
Gtsf1	T	C	15: 103,425,475	I25V	probably damaging	Het
Hephl1	T	C	9: 15,069,748	E796G	probably damaging	Het
Iglv2	A	T	16: 19,260,843	M1K	probably null	Het
Kif26b	GAAA	GAA	1: 178,916,616		probably null	Het
Klhl28	C	A	12: 64,951,421	G433V	probably damaging	Het
Mapk7	A	G	11: 61,489,854	S641P	possibly damaging	Het
Med22	A	G	2: 26,910,367	S17P	probably damaging	Het
Olfr126	T	C	17: 37,851,180	V196A	probably benign	Het
Olfr301	A	T	7: 86,413,193	Y277F	probably damaging	Het
Otud1	G	C	2: 19,658,140	A27P	possibly damaging	Het
Pcdhga6	A	T	18: 37,708,426	N400Y	probably damaging	Het
Pdgfd	T	C	9: 6,359,762	S278P	probably damaging	Het
Pdzd7	A	T	19: 45,040,254	V150E	probably damaging	Het
Peak1	T	C	9: 56,258,383	S754G	probably benign	Het
Phf14	A	G	6: 11,933,874		probably null	Het
Phlpp1	G	A	1: 106,392,597	E1441K	probably damaging	Het
Piezo2	A	G	18: 63,081,662		probably null	Het
Pikfyve	G	A	1: 65,244,420	V739I	probably damaging	Het
Plcg1	T	G	2: 160,754,437	M651R	possibly damaging	Het
Prex2	T	C	1: 11,156,364		probably benign	Het
Pus3	G	C	9: 35,566,578	G369R	probably benign	Het
Rab11fip1	G	A	8: 27,152,746	T675I	probably benign	Het
Scarf1	T	C	11: 75,515,252	C121R	probably damaging	Het
Sco1	T	C	11: 67,053,779	V76A	probably damaging	Het
Slc39a8	T	A	3: 135,849,133	C113S	probably damaging	Het
Slit3	A	T	11: 35,688,682	S1229C	probably null	Het
Snd1	G	T	6: 28,531,404		probably benign	Het
Tbc1d9	A	G	8: 83,233,663	S182G	probably damaging	Het
Tecta	A	C	9: 42,339,033	F1816C	probably damaging	Het
Tekt1	T	C	11: 72,354,819	N170S	probably benign	Het
Trim47	T	C	11: 116,107,957	T279A	probably benign	Het
Ttll4	A	G	1: 74,686,391	K653E	probably damaging	Het
Vcam1	T	C	3: 116,114,491	T641A	possibly damaging	Het
Vmn1r16	A	G	6: 57,323,227	F137L	probably benign	Het
Vmn2r17	T	A	5: 109,428,396	W378R	probably damaging	Het
Zfp777	T	C	6: 48,044,215	T158A	probably benign	Het
Zp1	T	C	19: 10,916,524	D439G	probably damaging	Het

Other mutations in Lipn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01288:Lipn	APN	19	34079035	missense	probably benign	0.06
IGL01320:Lipn	APN	19	34084640	missense	probably benign	0.07
IGL01827:Lipn	APN	19	34069480	missense	probably damaging	1.00
IGL02252:Lipn	APN	19	34071757	missense	probably benign	0.01
IGL02422:Lipn	APN	19	34068663	missense	probably benign	0.00
R0081:Lipn	UTSW	19	34076976	missense	probably benign	0.00
R0284:Lipn	UTSW	19	34080706	missense	possibly damaging	0.87
R0539:Lipn	UTSW	19	34084603	unclassified	probably benign
R0749:Lipn	UTSW	19	34076979	missense	probably damaging	1.00
R1170:Lipn	UTSW	19	34071758	missense	probably benign	0.23
R1528:Lipn	UTSW	19	34068670	missense	probably damaging	0.96
R1621:Lipn	UTSW	19	34068713	missense	probably benign
R1675:Lipn	UTSW	19	34080710	missense	probably damaging	1.00
R1869:Lipn	UTSW	19	34080739	missense	possibly damaging	0.93
R3236:Lipn	UTSW	19	34068738	missense	probably benign	0.17
R3237:Lipn	UTSW	19	34068738	missense	probably benign	0.17
R3876:Lipn	UTSW	19	34069428	missense	probably benign	0.00
R4084:Lipn	UTSW	19	34078940	missense	probably benign	0.04
R4595:Lipn	UTSW	19	34081350	missense	probably damaging	1.00
R5963:Lipn	UTSW	19	34081300	missense	probably damaging	0.97
R6018:Lipn	UTSW	19	34076935	missense	probably damaging	1.00
R6797:Lipn	UTSW	19	34080760	missense	probably benign
R7090:Lipn	UTSW	19	34071780	missense	possibly damaging	0.72
R7157:Lipn	UTSW	19	34076990	nonsense	probably null
R7458:Lipn	UTSW	19	34071842	missense	probably benign	0.10
R8824:Lipn	UTSW	19	34084716	missense	probably benign	0.04
R8894:Lipn	UTSW	19	34084848	makesense	probably null
R8933:Lipn	UTSW	19	34069480	missense	probably damaging	0.98
R9054:Lipn	UTSW	19	34076976	missense	possibly damaging	0.56
R9117:Lipn	UTSW	19	34068641	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CAACTACCTGCAGCTATAGATTTTG -3'
(R):5'- TGGGTGCAGTTAGCTTTCCC -3'

Sequencing Primer
(F):5'- AATCTACCCCCATTAACTTGTTCATC -3'
(R):5'- GCAGTTAGCTTTCCCTTTTAGAG -3'

Posted On

2015-04-02