Mutagenetix > Incidental Mutation

Incidental Mutation 'R4595:Lipn'

344356

Institutional Source

Beutler Lab

Gene Symbol

Lipn

Ensembl Gene

ENSMUSG00000024770

Gene Name

lipase, family member N

Synonyms

2210418G03Rik, Lipl4

MMRRC Submission

041811-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4595 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

34067358-34084918 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 34081350 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Aspartic acid at position 321 (Y321D)

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: Y321D

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

SMART Domains

Protein: ENSMUSP00000025682
Gene: ENSMUSG00000024770
AA Change: Y321D

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

0.9054

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.2%

Validation Efficiency

94% (62/66)

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
2700049A03Rik	A	T	12: 71,164,547 (GRCm38)	E685V	possibly damaging	Het
2700049A03Rik	G	T	12: 71,164,546 (GRCm38)	E685*	probably null	Het
4921536K21Rik	A	G	11: 3,890,052 (GRCm38)	I115T	probably benign	Het
Acads	A	T	5: 115,113,064 (GRCm38)	N120K	probably damaging	Het
Aco1	T	A	4: 40,167,139 (GRCm38)	C118S	probably benign	Het
Alpk2	T	C	18: 65,289,748 (GRCm38)	T1493A	probably damaging	Het
AU018091	A	G	7: 3,158,428 (GRCm38)	Y480H	possibly damaging	Het
Brd4	A	T	17: 32,198,922 (GRCm38)	I86N	probably damaging	Het
Ccdc180	A	G	4: 45,945,023 (GRCm38)	E1477G	probably damaging	Het
Ccne2	A	G	4: 11,202,986 (GRCm38)	N368S	probably benign	Het
Cenpp	A	T	13: 49,641,234 (GRCm38)	F152L	probably benign	Het
Cfap46	T	A	7: 139,652,404 (GRCm38)	D881V	possibly damaging	Het
Chmp7	A	G	14: 69,721,229 (GRCm38)	V212A	probably damaging	Het
Col9a2	A	T	4: 121,045,155 (GRCm38)	K196N	probably benign	Het
Copg2	T	C	6: 30,749,450 (GRCm38)	D814G	probably damaging	Het
Dcaf13	G	A	15: 39,118,893 (GRCm38)	G85R	probably damaging	Het
Dnah9	A	G	11: 66,168,152 (GRCm38)	S106P	probably benign	Het
Dpp8	A	G	9: 65,075,803 (GRCm38)	D739G	probably damaging	Het
Drd2	T	A	9: 49,404,789 (GRCm38)	M283K	probably benign	Het
Espl1	A	G	15: 102,298,724 (GRCm38)	T208A	probably benign	Het
Glul	G	A	1: 153,903,050 (GRCm38)	G35D	possibly damaging	Het
Gm14412	T	C	2: 177,315,212 (GRCm38)	K297E	unknown	Het
Gm21976	A	T	13: 98,305,810 (GRCm38)	R120W	probably damaging	Het
Hipk3	T	A	2: 104,441,277 (GRCm38)	T437S	probably benign	Het
Kcnd3	C	T	3: 105,658,766 (GRCm38)	A421V	probably damaging	Het
Lrwd1	A	G	5: 136,123,956 (GRCm38)	V484A	probably benign	Het
Madd	T	C	2: 91,167,664 (GRCm38)	D673G	possibly damaging	Het
Marveld1	T	A	19: 42,147,764 (GRCm38)	L39Q	probably damaging	Het
Mfsd2b	T	C	12: 4,865,807 (GRCm38)	T299A	possibly damaging	Het
Micu3	T	C	8: 40,359,397 (GRCm38)		probably benign	Het
Mmp7	T	C	9: 7,697,666 (GRCm38)	V234A	probably damaging	Het
Nhsl1	T	A	10: 18,527,609 (GRCm38)	D1329E	probably benign	Het
Olfr1234	C	T	2: 89,363,325 (GRCm38)	V35M	probably damaging	Het
Olfr1307	T	C	2: 111,944,652 (GRCm38)	D268G	possibly damaging	Het
Olfr622	A	G	7: 103,640,101 (GRCm38)	F13S	probably damaging	Het
Pcdhb21	T	A	18: 37,514,515 (GRCm38)	D232E	probably damaging	Het
Pebp1	G	T	5: 117,283,410 (GRCm38)	D156E	probably benign	Het
Pik3cb	A	G	9: 99,055,406 (GRCm38)	Y745H	possibly damaging	Het
Pld2	T	C	11: 70,542,020 (GRCm38)	L170P	probably damaging	Het
Ptch1	T	C	13: 63,543,608 (GRCm38)	D277G	possibly damaging	Het
Rab11fip1	A	T	8: 27,154,575 (GRCm38)	M394K	probably damaging	Het
Rhoq	T	C	17: 86,964,326 (GRCm38)	Y57H	probably benign	Het
Setbp1	T	C	18: 78,857,516 (GRCm38)	I979V	probably benign	Het
Slc6a4	A	G	11: 77,019,863 (GRCm38)	I447V	probably benign	Het
Sos2	T	C	12: 69,616,889 (GRCm38)	K607R	probably damaging	Het
Stt3a	T	C	9: 36,735,512 (GRCm38)	I602V	probably damaging	Het
Syne2	A	T	12: 75,967,071 (GRCm38)	Q3012L	possibly damaging	Het
Taf1b	T	A	12: 24,500,442 (GRCm38)	F9I	possibly damaging	Het
Tex35	T	A	1: 157,099,339 (GRCm38)	Y195F	probably benign	Het
Tnc	T	C	4: 63,995,745 (GRCm38)	T1277A	probably damaging	Het
Tnfsf15	G	T	4: 63,729,943 (GRCm38)	Y153*	probably null	Het
Trim5	C	A	7: 104,265,432 (GRCm38)	V477F	probably damaging	Het
Trp73	A	G	4: 154,064,417 (GRCm38)	I245T	probably damaging	Het
Zbtb16	C	T	9: 48,832,080 (GRCm38)	E311K	possibly damaging	Het
Zmynd19	A	G	2: 24,958,988 (GRCm38)	D165G	probably damaging	Het

Other mutations in Lipn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01288:Lipn	APN	19	34,079,035 (GRCm38)	missense	probably benign	0.06
IGL01320:Lipn	APN	19	34,084,640 (GRCm38)	missense	probably benign	0.07
IGL01827:Lipn	APN	19	34,069,480 (GRCm38)	missense	probably damaging	1.00
IGL02252:Lipn	APN	19	34,071,757 (GRCm38)	missense	probably benign	0.01
IGL02422:Lipn	APN	19	34,068,663 (GRCm38)	missense	probably benign	0.00
R0081:Lipn	UTSW	19	34,076,976 (GRCm38)	missense	probably benign	0.00
R0284:Lipn	UTSW	19	34,080,706 (GRCm38)	missense	possibly damaging	0.87
R0539:Lipn	UTSW	19	34,084,603 (GRCm38)	unclassified	probably benign
R0749:Lipn	UTSW	19	34,076,979 (GRCm38)	missense	probably damaging	1.00
R1170:Lipn	UTSW	19	34,071,758 (GRCm38)	missense	probably benign	0.23
R1528:Lipn	UTSW	19	34,068,670 (GRCm38)	missense	probably damaging	0.96
R1621:Lipn	UTSW	19	34,068,713 (GRCm38)	missense	probably benign
R1675:Lipn	UTSW	19	34,080,710 (GRCm38)	missense	probably damaging	1.00
R1869:Lipn	UTSW	19	34,080,739 (GRCm38)	missense	possibly damaging	0.93
R3236:Lipn	UTSW	19	34,068,738 (GRCm38)	missense	probably benign	0.17
R3237:Lipn	UTSW	19	34,068,738 (GRCm38)	missense	probably benign	0.17
R3832:Lipn	UTSW	19	34,069,533 (GRCm38)	critical splice donor site	probably null
R3876:Lipn	UTSW	19	34,069,428 (GRCm38)	missense	probably benign	0.00
R4084:Lipn	UTSW	19	34,078,940 (GRCm38)	missense	probably benign	0.04
R5963:Lipn	UTSW	19	34,081,300 (GRCm38)	missense	probably damaging	0.97
R6018:Lipn	UTSW	19	34,076,935 (GRCm38)	missense	probably damaging	1.00
R6797:Lipn	UTSW	19	34,080,760 (GRCm38)	missense	probably benign
R7090:Lipn	UTSW	19	34,071,780 (GRCm38)	missense	possibly damaging	0.72
R7157:Lipn	UTSW	19	34,076,990 (GRCm38)	nonsense	probably null
R7458:Lipn	UTSW	19	34,071,842 (GRCm38)	missense	probably benign	0.10
R8824:Lipn	UTSW	19	34,084,716 (GRCm38)	missense	probably benign	0.04
R8894:Lipn	UTSW	19	34,084,848 (GRCm38)	makesense	probably null
R8933:Lipn	UTSW	19	34,069,480 (GRCm38)	missense	probably damaging	0.98
R9054:Lipn	UTSW	19	34,076,976 (GRCm38)	missense	possibly damaging	0.56
R9117:Lipn	UTSW	19	34,068,641 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCATCCCTCTGTTGGACAGC -3'
(R):5'- GGTAGAGTGAATGCAAGAGATTTACTC -3'

Sequencing Primer
(F):5'- GGACAGCATTCTCCATATTGATGAG -3'
(R):5'- GTCTGCATATAACAAATGAACACAG -3'

Posted On

2015-09-25