Mutagenetix > Incidental Mutation

Incidental Mutation 'R8933:Lipn'

680489

Institutional Source

Beutler Lab

Gene Symbol

Lipn

Ensembl Gene

ENSMUSG00000024770

Gene Name

lipase, family member N

Synonyms

2210418G03Rik, Lipl4

MMRRC Submission

068709-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8933 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

34067358-34084918 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 34069480 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 61 (I61V)

Ref Sequence

ENSEMBL: ENSMUSP00000114551 (fasta)

Gene Model

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

AlphaFold

Q3U4B4

Predicted Effect

probably damaging
Transcript: ENSMUST00000025682
AA Change: I61V

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000025682
Gene: ENSMUSG00000024770
AA Change: I61V

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 damaging
Transcript: ENSMUST00000126710
AA Change: I61V

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000114551
Gene: ENSMUSG00000024770
AA Change: I61V

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

possibly damaging
Transcript: ENSMUST00000148821
AA Change: I61V

PolyPhen 2 Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000120184
Gene: ENSMUSG00000024770
AA Change: I61V

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: 99.8%
20x: 99.2%

Validation Efficiency

100% (86/86)

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	T	A	3: 122,128,137 (GRCm38)	I1114N	probably damaging	Het
Ache	C	A	5: 137,290,187 (GRCm38)	R52S	possibly damaging	Het
AI182371	A	T	2: 35,085,702 (GRCm38)		probably null	Het
Ankrd17	T	C	5: 90,258,466 (GRCm38)	S1453G	probably damaging	Het
Arvcf	A	G	16: 18,400,095 (GRCm38)	N508S	probably damaging	Het
Aurkc	A	C	7: 7,002,797 (GRCm38)	D136A	possibly damaging	Het
Bfsp2	A	G	9: 103,448,649 (GRCm38)	M265T	probably benign	Het
Bmpr1b	T	C	3: 141,856,608 (GRCm38)	T273A	probably damaging	Het
Cacnb1	T	C	11: 98,005,752 (GRCm38)	K406R	probably damaging	Het
Calcoco2	C	T	11: 96,107,426 (GRCm38)		probably benign	Het
Capza1	T	C	3: 104,840,893 (GRCm38)		probably null	Het
Ccdc63	T	A	5: 122,113,202 (GRCm38)	I382F	probably damaging	Het
Cep350	A	T	1: 155,863,415 (GRCm38)	N2227K	probably benign	Het
Chia1	T	A	3: 106,129,017 (GRCm38)	Y304*	probably null	Het
Col5a2	G	A	1: 45,421,963 (GRCm38)	P258L		Het
Cyp21a1	A	G	17: 34,804,311 (GRCm38)	L30P	probably damaging	Het
Dennd4b	T	A	3: 90,279,216 (GRCm38)	H1351Q	probably benign	Het
Dnah9	T	A	11: 65,855,252 (GRCm38)	I4012F	possibly damaging	Het
Drd1	A	G	13: 54,053,271 (GRCm38)	I301T	possibly damaging	Het
Dzip1	T	A	14: 118,906,914 (GRCm38)	H369L	probably damaging	Het
Fgfrl1	T	A	5: 108,703,391 (GRCm38)	M58K	probably damaging	Het
Ftsj3	G	T	11: 106,250,834 (GRCm38)	D529E	probably benign	Het
Fut9	A	T	4: 25,619,861 (GRCm38)	W318R	probably damaging	Het
Gabrg3	A	G	7: 56,984,958 (GRCm38)	I159T	probably damaging	Het
Gabrr1	A	T	4: 33,146,972 (GRCm38)	D53V	probably benign	Het
Ggps1	A	G	13: 14,054,343 (GRCm38)	V85A	probably benign	Het
Gm5141	C	T	13: 62,777,040 (GRCm38)	W18*	probably null	Het
Grik5	T	A	7: 25,023,318 (GRCm38)	T518S	probably benign	Het
Hapln3	A	T	7: 79,117,630 (GRCm38)		probably benign	Het
Hbs1l	C	T	10: 21,367,685 (GRCm38)	Q646*	probably null	Het
Hmox1	T	C	8: 75,097,016 (GRCm38)	I104T	probably benign	Het
Ifit1bl1	T	C	19: 34,594,013 (GRCm38)	Y348C	probably damaging	Het
Igf2r	G	A	17: 12,704,637 (GRCm38)	T1186M	probably damaging	Het
Igf2r	A	T	17: 12,701,244 (GRCm38)	S1403T	probably damaging	Het
Igfbp1	T	C	11: 7,198,333 (GRCm38)		probably null	Het
Ikbip	C	A	10: 91,083,230 (GRCm38)	A35E	probably benign	Het
Isca1	C	T	13: 59,769,683 (GRCm38)	A8T	probably damaging	Het
Itgb2	T	C	10: 77,565,188 (GRCm38)	L754P	probably damaging	Het
Itgb6	C	T	2: 60,627,903 (GRCm38)	C502Y	probably damaging	Het
Kdm3a	A	G	6: 71,600,108 (GRCm38)	V741A	probably benign	Het
Kdsr	T	C	1: 106,753,219 (GRCm38)	D83G	possibly damaging	Het
Kiz	T	A	2: 146,942,117 (GRCm38)	N523K		Het
Kmt2a	T	C	9: 44,822,505 (GRCm38)		probably benign	Het
Krt25	T	C	11: 99,321,238 (GRCm38)	E191G	probably benign	Het
Lmbr1l	T	A	15: 98,909,269 (GRCm38)		probably null	Het
Lrrc4c	A	G	2: 97,629,481 (GRCm38)	K151E	probably benign	Het
Mab21l3	T	C	3: 101,823,458 (GRCm38)	Q155R	probably benign	Het
Mtfr2	G	A	10: 20,357,528 (GRCm38)	R281H	possibly damaging	Het
Muc5ac	A	G	7: 141,789,756 (GRCm38)	Y35C	possibly damaging	Het
Myadm	C	T	7: 3,296,917 (GRCm38)	T65I	probably benign	Het
Nap1l1	T	C	10: 111,492,849 (GRCm38)	V213A	probably benign	Het
Nav2	A	G	7: 49,461,957 (GRCm38)	D737G	probably damaging	Het
Ndst4	T	A	3: 125,611,506 (GRCm38)	V470D	probably damaging	Het
Nek5	A	T	8: 22,120,843 (GRCm38)	V48E	probably damaging	Het
Nek5	T	A	8: 22,111,210 (GRCm38)	Y165F	probably damaging	Het
Nr6a1	T	C	2: 38,760,388 (GRCm38)	I77V	probably damaging	Het
Nvl	A	T	1: 181,139,073 (GRCm38)	D93E	probably benign	Het
Olfr450	A	G	6: 42,818,016 (GRCm38)	T182A	probably benign	Het
Olfr552	A	T	7: 102,604,430 (GRCm38)	L25F	probably damaging	Het
Olfr656	A	T	7: 104,617,666 (GRCm38)	T4S	probably benign	Het
Olfr678	A	G	7: 105,069,392 (GRCm38)		probably benign	Het
Olfr780	A	T	10: 129,322,390 (GRCm38)	I256F	probably damaging	Het
Olfr96	C	A	17: 37,225,455 (GRCm38)	T110K	possibly damaging	Het
Pla2g4c	G	A	7: 13,339,702 (GRCm38)	V225I	probably benign	Het
Plppr4	T	A	3: 117,323,041 (GRCm38)	N331I	probably damaging	Het
Ptpn13	A	G	5: 103,579,805 (GRCm38)	R2051G	probably benign	Het
Rbm45	T	C	2: 76,378,724 (GRCm38)	S346P	probably damaging	Het
Samd14	A	C	11: 95,021,201 (GRCm38)	D168A	probably damaging	Het
Slc15a1	C	T	14: 121,486,679 (GRCm38)	G172R	probably benign	Het
Slco3a1	G	T	7: 74,284,500 (GRCm38)	Y641*	probably null	Het
Srcap	G	A	7: 127,552,394 (GRCm38)	R2027H	probably damaging	Het
Stra8	A	T	6: 34,927,689 (GRCm38)		probably benign	Het
Syt11	T	C	3: 88,747,704 (GRCm38)	Y430C	probably damaging	Het
Tanc1	T	G	2: 59,785,456 (GRCm38)	V269G	possibly damaging	Het
Tead1	A	G	7: 112,898,611 (GRCm38)	N342S	probably benign	Het
Tenm3	C	T	8: 48,279,060 (GRCm38)	A1254T	possibly damaging	Het
Txlnb	A	T	10: 17,806,798 (GRCm38)	N156I	probably damaging	Het
Ufl1	A	T	4: 25,262,258 (GRCm38)	S409R	possibly damaging	Het
Usp17la	A	G	7: 104,861,100 (GRCm38)	H304R	probably benign	Het
Vmn1r203	T	A	13: 22,524,521 (GRCm38)	H157Q	possibly damaging	Het
Vmn1r37	C	T	6: 66,732,247 (GRCm38)	R249*	probably null	Het
Vmn2r96	A	G	17: 18,583,979 (GRCm38)	Q497R	probably benign	Het
Vps39	A	G	2: 120,338,585 (GRCm38)	S292P	probably benign	Het
Wnk1	A	G	6: 120,036,998 (GRCm38)	V212A	probably damaging	Het
Xbp1	T	C	11: 5,524,741 (GRCm38)	V161A	probably benign	Het
Zfp113	T	C	5: 138,144,830 (GRCm38)	Q386R	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
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
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'- TCTCAGTAGATACCTTCCAGCATTC -3'
(R):5'- CATTAAAAGACCACTGCAGTAACTG -3'

Sequencing Primer
(F):5'- CAACTACCTGCAGCTATAGATTTTG -3'
(R):5'- CTGCAGTAACTGAAGCCAATTTGG -3'

Posted On

2021-08-31