Mutagenetix > Incidental Mutation

Incidental Mutation 'R9054:Lipn'

688590

Institutional Source

Beutler Lab

Gene Symbol

Lipn

Ensembl Gene

ENSMUSG00000024770

Gene Name

lipase, family member N

Synonyms

2210418G03Rik, Lipl4

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9054 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

34067358-34084918 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 34076976 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 205 (I205F)

Ref Sequence

ENSEMBL: ENSMUSP00000025682 (fasta)

Gene Model

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

AlphaFold

Q3U4B4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000025682
AA Change: I205F

PolyPhen 2 Score 0.561 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000025682
Gene: ENSMUSG00000024770
AA Change: I205F

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: 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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

98% (51/52)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankef1	T	A	2: 136,553,674	D641E	probably benign	Het
Anln	A	G	9: 22,360,820		probably null	Het
Areg	A	T	5: 91,144,358	E172D	probably damaging	Het
Ccdc51	A	T	9: 109,089,414	T24S	probably benign	Het
Cckar	A	T	5: 53,703,082	I135N	probably damaging	Het
Cdca7	CGAGGAAGAGGAGGAGGAAGAGGAGGAGGAAGAGGA	CGAGGAAGAGGAGGAGGAAGAGGA	2: 72,483,477		probably benign	Het
Cep295	T	C	9: 15,324,255	H2056R	possibly damaging	Het
Chrnb2	T	C	3: 89,757,255	K451E	probably damaging	Het
Ctnna2	C	T	6: 76,942,266	R663Q	probably benign	Het
Cyp4f37	A	T	17: 32,634,279	I406F	probably benign	Het
Eml4	T	A	17: 83,427,211		probably benign	Het
Fkrp	G	T	7: 16,810,644	T431K	probably damaging	Het
Fsip2	A	T	2: 82,975,836	Y833F	possibly damaging	Het
Galnt2	T	C	8: 124,332,098		probably null	Het
Gm13101	T	C	4: 143,965,744	Q229R	probably benign	Het
Gm8180	T	A	14: 43,782,349		probably null	Het
Gm8882	G	C	6: 132,361,893	Q121E	unknown	Het
Hcn1	T	C	13: 117,971,635	S552P	unknown	Het
Ifit1	A	C	19: 34,648,487	E341A	possibly damaging	Het
Iyd	A	G	10: 3,540,250		probably benign	Het
Krt72	A	T	15: 101,786,401	S20T	probably damaging	Het
Lemd2	G	T	17: 27,204,095	D108E	probably benign	Het
Nat1	G	T	8: 67,491,071	R36L	probably benign	Het
Nebl	A	T	2: 17,411,096	M334K	possibly damaging	Het
Nectin4	A	T	1: 171,386,783	N502I	probably damaging	Het
Nrp1	G	A	8: 128,487,908	V626I	probably benign	Het
Olfr160	C	T	9: 37,711,908	V124M	probably damaging	Het
Olfr692	A	G	7: 105,368,473	Y49C	probably damaging	Het
Oprm1	G	A	10: 6,823,914		probably benign	Het
Pde2a	A	G	7: 101,507,720	Y637C	probably damaging	Het
Pde4d	T	C	13: 109,935,390	V306A	probably damaging	Het
Pdzd9	G	A	7: 120,670,275		probably benign	Het
Pitpnm3	T	A	11: 72,056,191	D810V	probably damaging	Het
Pkd1l3	A	T	8: 109,665,672	H1966L	probably benign	Het
Pmfbp1	C	T	8: 109,521,029	T319I	possibly damaging	Het
Psg18	T	A	7: 18,353,525	R69S	possibly damaging	Het
Ptprg	A	T	14: 12,213,638	Q1002L	possibly damaging	Het
Ptprj	T	C	2: 90,460,640	Y585C	probably damaging	Het
Rad51c	T	C	11: 87,402,716	T105A	probably benign	Het
Rbm12	A	T	2: 156,095,561	D930E	unknown	Het
Rlf	A	C	4: 121,150,587	S509A	possibly damaging	Het
Slc39a3	C	A	10: 81,033,665	G53C	probably damaging	Het
Smchd1	G	A	17: 71,363,022	Q1685*	probably null	Het
Sprr2d	A	C	3: 92,340,408	E52A	unknown	Het
Stat1	A	G	1: 52,142,927	N355S	probably damaging	Het
Tmem30b	T	C	12: 73,546,149	E64G	probably benign	Het
Ttll11	A	T	2: 35,979,380	V82D	probably benign	Het
Ttn	T	A	2: 76,740,633	T26639S	probably damaging	Het
Usp53	A	T	3: 122,934,076	N952K	probably benign	Het
Vmn1r199	T	A	13: 22,383,554	H339Q	possibly damaging	Het
Vps13b	G	A	15: 35,422,391	D166N	probably damaging	Het
Zfp954	C	A	7: 7,116,098	C149F	probably benign	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
R3832:Lipn	UTSW	19	34069533	critical splice donor site	probably null
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
R9117:Lipn	UTSW	19	34068641	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACGAAGCCGAAGTACAATGTTG -3'
(R):5'- CACGTTGAAGTACATCCTCATGG -3'

Sequencing Primer
(F):5'- CGAAGTACAATGTTGCAGAAACC -3'
(R):5'- GTACATCCTCATGGACTCTGATTTC -3'

Posted On

2021-11-19