Mutagenetix > Incidental Mutation

Incidental Mutation 'R7157:Lipn'

557410

Institutional Source

Beutler Lab

Gene Symbol

Lipn

Ensembl Gene

ENSMUSG00000024770

Gene Name

lipase, family member N

Synonyms

2210418G03Rik, Lipl4

MMRRC Submission

045258-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7157 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

34067358-34084918 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 34076990 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 209 (Y209*)

Ref Sequence

ENSEMBL: ENSMUSP00000025682 (fasta)

Gene Model

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

AlphaFold

Q3U4B4

Predicted Effect

probably null
Transcript: ENSMUST00000025682
AA Change: Y209*

SMART Domains

Protein: ENSMUSP00000025682
Gene: ENSMUSG00000024770
AA Change: Y209*

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: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610021A01Rik	G	A	7: 41,626,976 (GRCm38)	G701D	probably damaging	Het
6030468B19Rik	T	A	11: 117,802,954 (GRCm38)	N82K	probably damaging	Het
Abca17	A	T	17: 24,335,590 (GRCm38)	V130E	possibly damaging	Het
Alpk2	T	A	18: 65,266,277 (GRCm38)	K2077*	probably null	Het
Aox2	T	C	1: 58,283,492 (GRCm38)	F73S	probably benign	Het
Ap3b1	T	A	13: 94,532,034 (GRCm38)	C965*	probably null	Het
Arhgef10	T	A	8: 14,930,030 (GRCm38)	V90E	probably damaging	Het
Atp5s	A	T	12: 69,741,788 (GRCm38)	N154Y	probably benign	Het
Atr	T	A	9: 95,869,900 (GRCm38)	H523Q	probably benign	Het
Bicdl1	G	T	5: 115,651,857 (GRCm38)	Q511K	possibly damaging	Het
Capn15	A	T	17: 25,965,254 (GRCm38)	N150K	probably damaging	Het
Card6	A	T	15: 5,100,109 (GRCm38)	W602R	probably benign	Het
Clnk	A	T	5: 38,769,891 (GRCm38)	S82T	possibly damaging	Het
Cmah	T	C	13: 24,436,629 (GRCm38)	I282T	probably damaging	Het
Cog8	A	G	8: 107,052,499 (GRCm38)	I382T	probably benign	Het
Dhrs7c	G	T	11: 67,809,896 (GRCm38)		probably null	Het
Dhrs9	T	A	2: 69,393,158 (GRCm38)	D83E	probably damaging	Het
Dmgdh	G	A	13: 93,715,535 (GRCm38)	G624E	probably damaging	Het
Dnajc30	C	A	5: 135,064,715 (GRCm38)	F155L	probably damaging	Het
Drc7	A	C	8: 95,074,150 (GRCm38)	K600T	probably damaging	Het
Efhb	A	C	17: 53,400,900 (GRCm38)	I745S	probably damaging	Het
Fasn	T	A	11: 120,810,465 (GRCm38)	K1988*	probably null	Het
Gad2	T	C	2: 22,635,023 (GRCm38)	L273P	probably damaging	Het
Gm45861	A	T	8: 27,542,509 (GRCm38)	K887I	unknown	Het
Gm45861	A	T	8: 27,542,508 (GRCm38)	K887*	probably null	Het
Gm9195	A	G	14: 72,480,781 (GRCm38)	Y152H	probably damaging	Het
Grip1	G	A	10: 119,945,156 (GRCm38)	D237N	probably damaging	Het
Hamp	A	C	7: 30,942,536 (GRCm38)	C65G	possibly damaging	Het
Hes3	A	G	4: 152,288,124 (GRCm38)		probably benign	Het
Hgh1	T	C	15: 76,370,450 (GRCm38)	I342T	probably damaging	Het
Hlcs	T	A	16: 94,268,164 (GRCm38)	K66*	probably null	Het
Ift80	A	T	3: 68,990,944 (GRCm38)	C19*	probably null	Het
Ikbkap	ACTTCTTCTTCTTCTTCTTCTTC	ACTTCTTCTTCTTCTTCTTC	4: 56,781,176 (GRCm38)		probably benign	Het
Kbtbd12	C	T	6: 88,618,668 (GRCm38)	C60Y	probably damaging	Het
Kdm4c	T	A	4: 74,345,567 (GRCm38)	V696E	probably benign	Het
Lect2	A	G	13: 56,542,990 (GRCm38)	I117T	unknown	Het
Lpin3	G	A	2: 160,898,707 (GRCm38)	V391I	probably benign	Het
Mocs2	A	T	13: 114,824,607 (GRCm38)	I47L	probably benign	Het
Mogs	T	A	6: 83,118,507 (GRCm38)	H768Q	probably benign	Het
Nbeal1	T	A	1: 60,260,634 (GRCm38)	C1376*	probably null	Het
Nbeal1	T	A	1: 60,237,158 (GRCm38)	I686N	probably damaging	Het
Ninl	A	G	2: 150,949,343 (GRCm38)	Y1087H	possibly damaging	Het
Olfr1076	T	A	2: 86,509,025 (GRCm38)	C189S	probably damaging	Het
Olfr1338	A	G	4: 118,754,418 (GRCm38)	V42A	possibly damaging	Het
Olfr518	A	G	7: 108,881,268 (GRCm38)	F113L	probably benign	Het
Olfr623	A	C	7: 103,660,581 (GRCm38)	L223R	probably damaging	Het
Olfr729	A	G	14: 50,148,232 (GRCm38)	L214S	probably damaging	Het
Olfr750	A	G	14: 51,071,159 (GRCm38)	V78A	possibly damaging	Het
Pkn1	A	G	8: 83,671,734 (GRCm38)	F768S	probably damaging	Het
Plekha2	A	G	8: 25,063,941 (GRCm38)	F82L	probably damaging	Het
Ppie	T	C	4: 123,135,107 (GRCm38)	E111G	probably benign	Het
Rps6ka5	T	C	12: 100,581,420 (GRCm38)	Y277C	probably damaging	Het
Scgb2b12	A	G	7: 32,326,677 (GRCm38)	V30A	probably benign	Het
Serac1	A	T	17: 6,074,201 (GRCm38)	S16T	probably benign	Het
Sf3a3	T	C	4: 124,722,900 (GRCm38)	Y192H	probably damaging	Het
Slc14a1	A	G	18: 78,102,411 (GRCm38)	V436A	probably benign	Het
Smc3	T	A	19: 53,641,898 (GRCm38)	M1112K	probably damaging	Het
Tnk2	G	A	16: 32,681,168 (GRCm38)	G1017E	probably damaging	Het
Tnn	T	A	1: 160,126,377 (GRCm38)	K603*	probably null	Het
Trpm6	T	C	19: 18,838,098 (GRCm38)	S1183P	possibly damaging	Het
Ttn	A	T	2: 76,784,380 (GRCm38)	V16964E	possibly damaging	Het
Usp17le	G	A	7: 104,768,489 (GRCm38)	T482I	probably benign	Het
Vmn1r219	T	A	13: 23,163,355 (GRCm38)	M238K	probably damaging	Het
Wfs1	C	T	5: 36,967,172 (GRCm38)	G792S	probably benign	Het
Xpa	A	T	4: 46,185,612 (GRCm38)	L122Q	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
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
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'- TACGAAGCCGAAGTACAATGTTG -3'
(R):5'- ACGTTGAAGTACATCCTCATGGAC -3'

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

Posted On

2019-06-26