Mutagenetix > Incidental Mutation

Incidental Mutation 'R3236:Lipn'

259069

Institutional Source

Beutler Lab

Gene Symbol

Lipn

Ensembl Gene

ENSMUSG00000024770

Gene Name

lipase, family member N

Synonyms

2210418G03Rik, Lipl4

MMRRC Submission

040618-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3236 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

34067358-34084918 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 34068738 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 37 (N37S)

Ref Sequence

ENSEMBL: ENSMUSP00000120184 (fasta)

Gene Model

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

AlphaFold

Q3U4B4

Predicted Effect

probably benign
Transcript: ENSMUST00000025682
AA Change: N37S

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000025682
Gene: ENSMUSG00000024770
AA Change: N37S

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 benign
Transcript: ENSMUST00000126710
AA Change: N37S

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000114551
Gene: ENSMUSG00000024770
AA Change: N37S

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
AA Change: N37S

PolyPhen 2 Score 0.168 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000120184
Gene: ENSMUSG00000024770
AA Change: N37S

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

0.3424

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.4%

Validation Efficiency

98% (64/65)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	G	T	12: 71,164,546	E685*	probably null	Het
2700049A03Rik	A	T	12: 71,164,547	E685V	possibly damaging	Het
5730455P16Rik	G	A	11: 80,368,170	L255F	probably damaging	Het
9130011E15Rik	A	T	19: 45,975,283		probably benign	Het
Aff2	T	A	X: 69,863,937	V1175E	possibly damaging	Het
Agbl3	A	G	6: 34,823,087		probably null	Het
Atm	T	A	9: 53,479,748	D1842V	probably benign	Het
Bcar3	C	A	3: 122,524,996	Q678K	probably benign	Het
Ccdc88a	A	G	11: 29,447,995	T243A	possibly damaging	Het
Col5a3	G	T	9: 20,807,653	N268K	unknown	Het
Col6a1	G	A	10: 76,711,320	T737M	unknown	Het
Cyp3a25	T	C	5: 146,003,128		probably benign	Het
Dnah17	T	C	11: 118,094,854	T1466A	probably benign	Het
Dnah9	G	A	11: 65,954,989	T3023I	probably benign	Het
Ecm1	G	T	3: 95,734,846	Q476K	possibly damaging	Het
Eml6	A	G	11: 29,831,097		probably null	Het
Fbxo18	T	C	2: 11,769,826	D36G	probably damaging	Het
Fyb	A	C	15: 6,630,116	D434A	probably damaging	Het
Gm5478	A	G	15: 101,644,303	Y398H	probably damaging	Het
H2-Q6	C	A	17: 35,425,700	T155K	probably damaging	Het
Hk1	T	C	10: 62,296,019		probably null	Het
Kdm6b	A	G	11: 69,406,366	Y387H	probably damaging	Het
Lrig3	G	A	10: 125,997,187	C310Y	probably damaging	Het
Map6	T	A	7: 99,336,824	V645E	probably damaging	Het
Memo1	A	T	17: 74,202,352	I224K	probably damaging	Het
Morc2a	T	C	11: 3,683,612	I602T	probably benign	Het
N4bp3	A	T	11: 51,645,934	F104Y	probably damaging	Het
Ndrg3	T	A	2: 156,944,037	I161F	probably damaging	Het
Notch3	T	C	17: 32,158,461	R214G	probably damaging	Het
Obscn	T	C	11: 59,131,646	R758G	possibly damaging	Het
Olfr116	T	C	17: 37,624,236	E133G	possibly damaging	Het
Olfr1178	T	C	2: 88,391,406	I53T	probably benign	Het
Pdgfra	T	C	5: 75,167,936	V243A	probably damaging	Het
Piwil4	A	G	9: 14,700,248		probably benign	Het
Plxna2	C	T	1: 194,749,317	S538F	probably damaging	Het
Pon2	A	T	6: 5,266,986	N252K	possibly damaging	Het
Ptf1a	T	C	2: 19,445,907	F16S	probably damaging	Het
Rasgrp1	A	G	2: 117,291,812	Y366H	probably benign	Het
Rbfox1	G	A	16: 7,408,028	V353I	possibly damaging	Het
Rrh	T	C	3: 129,811,711	Y110C	probably damaging	Het
Rufy4	T	C	1: 74,147,663	C537R	probably damaging	Het
Scaf4	T	A	16: 90,260,217	D82V	unknown	Het
Serhl	C	A	15: 83,104,403	P177Q	probably damaging	Het
Setdb1	A	G	3: 95,338,754	V619A	probably damaging	Het
Sf3b3	A	G	8: 110,812,020	S1123P	probably damaging	Het
Slc1a3	T	C	15: 8,639,123	I453V	probably damaging	Het
Slf2	A	G	19: 44,942,334	I617V	probably benign	Het
Snrnp200	T	A	2: 127,221,882	D660E	probably damaging	Het
Spata22	T	A	11: 73,345,887	F340I	probably damaging	Het
Speer4e	T	A	5: 14,934,925	E206D	possibly damaging	Het
Stard6	T	A	18: 70,500,486	M188K	probably damaging	Het
Stat6	G	A	10: 127,652,222	V282I	possibly damaging	Het
Supt20	T	C	3: 54,709,080	S253P	possibly damaging	Het
Szt2	A	C	4: 118,383,034		probably null	Het
Thsd4	C	A	9: 60,394,387	K208N	probably benign	Het
Thsd7b	C	T	1: 130,218,118	Q1588*	probably null	Het
Tmem167	C	T	13: 90,104,380	R52C	probably benign	Het
Ttn	T	C	2: 76,899,409		probably benign	Het
Usp39	G	A	6: 72,338,389		probably benign	Het
Vmn2r112	T	A	17: 22,603,115	V258E	probably damaging	Het
Vmn2r24	C	T	6: 123,779,025	Q19*	probably null	Het
Vps13b	G	A	15: 35,910,304	E3405K	probably benign	Het
Zgrf1	A	G	3: 127,613,375	D1597G	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
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
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'- GACTCCAAGTAACTTCCCCTG -3'
(R):5'- AGAGATGGTAAAGTTCCATGCC -3'

Sequencing Primer
(F):5'- TGGTTCTTCTATAAAGCAACCAACC -3'
(R):5'- GTTCCATGCCAATAGAATTCTGTC -3'

Posted On

2015-01-23