Mutagenetix > Incidental Mutation

Incidental Mutation 'R0081:Lipn'

19704

Institutional Source

Beutler Lab

Gene Symbol

Lipn

Ensembl Gene

ENSMUSG00000024770

Gene Name

lipase, family member N

Synonyms

2210418G03Rik, Lipl4

MMRRC Submission

038368-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0081 (G1)

Quality Score

117

Status

Validated

Chromosome

Chromosomal Location

34067358-34084918 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 34076976 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 205 (I205V)

Ref Sequence

ENSEMBL: ENSMUSP00000025682 (fasta)

Gene Model

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

AlphaFold

Q3U4B4

Predicted Effect

probably benign
Transcript: ENSMUST00000025682
AA Change: I205V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000025682
Gene: ENSMUSG00000024770
AA Change: I205V

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

Meta Mutation Damage Score

0.0631

Coding Region Coverage

1x: 99.0%
3x: 97.2%
10x: 88.5%
20x: 63.6%

Validation Efficiency

94% (159/169)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam5	T	C	8: 24,781,687 (GRCm38)	D485G	probably damaging	Het
Adamts19	T	C	18: 58,903,065 (GRCm38)		probably null	Het
Adgrd1	A	T	5: 129,178,082 (GRCm38)	I598F	probably damaging	Het
Adh5	A	G	3: 138,451,413 (GRCm38)	D245G	probably benign	Het
Adra2b	T	C	2: 127,364,292 (GRCm38)	V238A	probably benign	Het
Ank1	G	A	8: 23,116,242 (GRCm38)	V1188I	possibly damaging	Het
Asap1	C	T	15: 64,099,564 (GRCm38)	G905D	probably damaging	Het
AW554918	T	C	18: 25,344,902 (GRCm38)	V428A	probably benign	Het
Birc6	T	A	17: 74,643,441 (GRCm38)	S3226T	probably benign	Het
Cdh17	A	T	4: 11,785,280 (GRCm38)		probably benign	Het
Cyfip2	A	T	11: 46,253,998 (GRCm38)	Y676*	probably null	Het
Dcaf17	T	A	2: 71,078,468 (GRCm38)		probably benign	Het
Dclre1a	A	G	19: 56,542,707 (GRCm38)	F736L	probably damaging	Het
Ddx41	A	T	13: 55,535,380 (GRCm38)	H171Q	possibly damaging	Het
Dennd5b	G	T	6: 148,993,759 (GRCm38)	Q1258K	probably benign	Het
Dock10	T	C	1: 80,606,578 (GRCm38)	D137G	probably damaging	Het
Dpyd	G	A	3: 118,944,255 (GRCm38)	V482I	probably benign	Het
Erich6	A	T	3: 58,636,126 (GRCm38)		probably benign	Het
Fam193b	A	G	13: 55,554,211 (GRCm38)		probably benign	Het
Foxp2	T	C	6: 15,405,644 (GRCm38)		probably benign	Het
Frmd4a	T	C	2: 4,572,441 (GRCm38)		probably null	Het
Gas2l2	A	G	11: 83,422,867 (GRCm38)	S540P	possibly damaging	Het
Glis2	T	C	16: 4,613,653 (GRCm38)	V348A	probably benign	Het
Gm14443	C	A	2: 175,169,936 (GRCm38)	G239V	probably damaging	Het
Gpr158	T	C	2: 21,826,717 (GRCm38)	V876A	probably damaging	Het
H1f8	A	G	6: 115,949,981 (GRCm38)	E273G	probably benign	Het
Hadh	C	T	3: 131,235,636 (GRCm38)	D245N	probably damaging	Het
Hk2	A	T	6: 82,734,976 (GRCm38)		probably benign	Het
Ice1	A	T	13: 70,619,044 (GRCm38)	Y108*	probably null	Het
Il10ra	T	G	9: 45,255,949 (GRCm38)	M435L	probably benign	Het
Inpp5k	GT	G	11: 75,631,147 (GRCm38)		probably null	Het
Kank4	G	T	4: 98,778,330 (GRCm38)	P627T	probably benign	Het
Kif16b	A	G	2: 142,707,426 (GRCm38)		probably benign	Het
Miox	C	T	15: 89,336,274 (GRCm38)	L189F	possibly damaging	Het
Myh1	T	C	11: 67,215,857 (GRCm38)	M1255T	probably benign	Het
Myl3	A	C	9: 110,767,929 (GRCm38)	D119A	probably damaging	Het
Myo1d	T	G	11: 80,557,523 (GRCm38)	K925N	probably benign	Het
Myoz1	T	A	14: 20,649,554 (GRCm38)	M239L	probably benign	Het
Ncoa6	TGC	TGCGC	2: 155,408,291 (GRCm38)		probably null	Het
Nf1	C	A	11: 79,453,979 (GRCm38)		probably benign	Het
Npepl1	C	T	2: 174,116,086 (GRCm38)	P239S	probably damaging	Het
Olfml1	A	G	7: 107,571,299 (GRCm38)	K131R	probably benign	Het
Or12k5	G	A	2: 37,005,450 (GRCm38)	L55F	probably damaging	Het
Or1e29	A	G	11: 73,777,109 (GRCm38)	F73L	possibly damaging	Het
Or1j15	T	A	2: 36,568,881 (GRCm38)	Y94*	probably null	Het
Or1j20	T	C	2: 36,870,010 (GRCm38)	L148S	possibly damaging	Het
Or4c10	T	A	2: 89,930,079 (GRCm38)	I90K	possibly damaging	Het
Or4f7	A	C	2: 111,813,868 (GRCm38)	I286S	probably damaging	Het
Or5p52	C	T	7: 107,903,005 (GRCm38)	T96I	probably benign	Het
Or6c202	C	T	10: 129,160,838 (GRCm38)	D49N	possibly damaging	Het
Pde7a	T	C	3: 19,241,533 (GRCm38)		probably benign	Het
Pik3c2g	T	C	6: 139,957,793 (GRCm38)	C591R	probably benign	Het
Pkn2	T	G	3: 142,853,582 (GRCm38)	K61Q	probably damaging	Het
Ppfia1	C	A	7: 144,504,974 (GRCm38)	G722C	probably damaging	Het
Ppp1cb	T	C	5: 32,487,614 (GRCm38)	V263A	probably damaging	Het
Rab11fip2	A	T	19: 59,907,135 (GRCm38)	N440K	possibly damaging	Het
Rbm34	T	A	8: 126,949,484 (GRCm38)	K340N	probably damaging	Het
Samd3	T	C	10: 26,271,501 (GRCm38)		probably benign	Het
Sfi1	TCGC	TC	11: 3,146,254 (GRCm38)		probably null	Het
Sigirr	T	C	7: 141,091,372 (GRCm38)	D399G	probably damaging	Het
Slc17a7	A	G	7: 45,174,947 (GRCm38)	E554G	probably benign	Het
Smc3	A	G	19: 53,601,562 (GRCm38)		probably benign	Het
Tdrd1	T	C	19: 56,831,271 (GRCm38)	Y68H	probably benign	Het
Tespa1	T	A	10: 130,360,850 (GRCm38)	L219Q	probably damaging	Het
Tmem144	G	A	3: 79,839,273 (GRCm38)		probably benign	Het
Ttc38	A	G	15: 85,856,472 (GRCm38)	S436G	probably benign	Het
Ttn	T	A	2: 76,751,079 (GRCm38)	I23157F	probably damaging	Het
Ubxn2b	T	A	4: 6,203,875 (GRCm38)		probably benign	Het
Vmn1r28	G	A	6: 58,265,717 (GRCm38)	A182T	probably benign	Het
Vmn2r72	T	C	7: 85,751,836 (GRCm38)	E125G	probably benign	Het
Vmn2r78	A	T	7: 86,923,027 (GRCm38)	D532V	probably benign	Het
Vwa8	C	A	14: 79,082,782 (GRCm38)	L1078I	probably benign	Het
Vwce	A	T	19: 10,664,089 (GRCm38)		probably null	Het
Zpr1	A	G	9: 46,279,697 (GRCm38)	D300G	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
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
R4595:Lipn	UTSW	19	34,081,350 (GRCm38)	missense	probably damaging	1.00
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'- CGGCATGTTTGTGTGCTCAGAAAAG -3'
(R):5'- ACTGGTGTAGGACTCACCTCATCTC -3'

Sequencing Primer
(F):5'- GGTTTCTATAGTTCACCAAGCAG -3'
(R):5'- CGTTGAAGTACATCCTCATGGAC -3'

Posted On

2013-04-11