Mutagenetix > Incidental Mutation

Incidental Mutation 'R8824:Lipn'

673360

Institutional Source

Beutler Lab

Gene Symbol

Lipn

Ensembl Gene

ENSMUSG00000024770

Gene Name

lipase, family member N

Synonyms

2210418G03Rik, Lipl4

MMRRC Submission

068657-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8824 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

34044758-34062318 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 34062116 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 357 (I357T)

Ref Sequence

ENSEMBL: ENSMUSP00000025682 (fasta)

Gene Model

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

AlphaFold

Q3U4B4

Predicted Effect

probably benign
Transcript: ENSMUST00000025682
AA Change: I357T

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000025682
Gene: ENSMUSG00000024770
AA Change: I357T

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

Validation Efficiency

100% (63/63)

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
Accsl	A	T	2: 93,693,195 (GRCm39)	V260D	probably damaging	Het
Adora2a	G	A	10: 75,162,013 (GRCm39)	A51T	probably damaging	Het
Afg1l	G	A	10: 42,314,383 (GRCm39)	P128S	possibly damaging	Het
Ago4	C	A	4: 126,400,977 (GRCm39)	V623L	probably benign	Het
Akap11	A	T	14: 78,753,787 (GRCm39)	N112K		Het
C1ra	A	T	6: 124,494,654 (GRCm39)	I306F	probably damaging	Het
Ccdc73	A	G	2: 104,822,222 (GRCm39)	N724D	possibly damaging	Het
Cd248	A	G	19: 5,119,645 (GRCm39)	I498V	probably benign	Het
Clrn1	A	T	3: 58,792,314 (GRCm39)	S50T	probably benign	Het
Col7a1	A	G	9: 108,796,093 (GRCm39)	K1553R	unknown	Het
Cxcr6	A	C	9: 123,640,006 (GRCm39)	T343P	probably benign	Het
Cyp11b2	T	A	15: 74,727,914 (GRCm39)	Q56L	probably damaging	Het
Dip2a	A	G	10: 76,114,320 (GRCm39)		probably null	Het
Dnmbp	A	G	19: 43,838,276 (GRCm39)	V742A	probably benign	Het
Dusp16	A	T	6: 134,716,732 (GRCm39)	S192T	probably benign	Het
Ehbp1	A	T	11: 22,182,053 (GRCm39)	D87E	probably damaging	Het
Fgl1	A	G	8: 41,652,748 (GRCm39)	V150A	probably benign	Het
Flt3	T	C	5: 147,271,673 (GRCm39)	D873G	probably damaging	Het
Gart	T	C	16: 91,427,591 (GRCm39)	D469G	possibly damaging	Het
Gm28168	T	G	1: 117,875,625 (GRCm39)	S85A	probably benign	Het
Golgb1	A	G	16: 36,736,051 (GRCm39)	D1807G	probably benign	Het
Grm8	A	G	6: 27,761,351 (GRCm39)	L291S	probably damaging	Het
Gucy2d	C	T	7: 98,092,676 (GRCm39)	P18S	possibly damaging	Het
Ifna15	C	T	4: 88,475,998 (GRCm39)	C162Y	probably damaging	Het
Iqub	C	A	6: 24,479,307 (GRCm39)	E412*	probably null	Het
Krt4	T	A	15: 101,829,077 (GRCm39)	D312V		Het
Krtap26-1	T	C	16: 88,444,324 (GRCm39)	Y99C	probably damaging	Het
Krtap26-1	A	T	16: 88,444,303 (GRCm39)	I106N	probably damaging	Het
Lrrc14b	A	G	13: 74,512,068 (GRCm39)	L4P	probably damaging	Het
Mrgpra9	A	T	7: 46,885,041 (GRCm39)	C209S	probably benign	Het
Myh7b	A	G	2: 155,472,301 (GRCm39)	N1291D	probably benign	Het
Myo5a	A	G	9: 75,074,328 (GRCm39)	T746A	probably damaging	Het
Myom2	A	C	8: 15,164,169 (GRCm39)	E1021D	possibly damaging	Het
Ncoa2	C	T	1: 13,247,409 (GRCm39)	R338H	probably benign	Het
Ncor2	A	G	5: 125,195,821 (GRCm39)	F91L		Het
Neb	C	G	2: 52,106,923 (GRCm39)	A4407P	probably damaging	Het
Or10u4	C	T	10: 129,801,661 (GRCm39)	V297M	probably damaging	Het
Or1j18	A	T	2: 36,625,203 (GRCm39)	Y290F	probably damaging	Het
Or4b1b	A	G	2: 90,126,356 (GRCm39)	I283T	probably damaging	Het
Or5d47	A	G	2: 87,804,347 (GRCm39)	F221L	probably benign	Het
Or5p76	T	G	7: 108,122,350 (GRCm39)	Y269S	probably benign	Het
Or5w12	T	C	2: 87,502,304 (GRCm39)	M136V	possibly damaging	Het
Peg10	T	TCCC	6: 4,756,451 (GRCm39)		probably benign	Het
Piwil4	C	A	9: 14,638,771 (GRCm39)	K298N	probably benign	Het
Prkcz	G	A	4: 155,429,285 (GRCm39)		probably benign	Het
Prkg2	G	A	5: 99,090,067 (GRCm39)	P691L	possibly damaging	Het
Ptprc	T	A	1: 138,041,446 (GRCm39)	K89*	probably null	Het
Rapgef3	C	T	15: 97,664,789 (GRCm39)	A25T	probably benign	Het
Rreb1	C	T	13: 38,114,492 (GRCm39)	T617I	probably damaging	Het
Rsph1	A	C	17: 31,492,350 (GRCm39)	V72G	possibly damaging	Het
Shc2	A	G	10: 79,473,536 (GRCm39)	V50A	probably benign	Het
Slc38a9	G	A	13: 112,838,021 (GRCm39)	R262H	probably benign	Het
Slco6c1	T	A	1: 97,055,884 (GRCm39)	N6Y	possibly damaging	Het
Smarca5	A	G	8: 81,431,961 (GRCm39)	F886L	probably benign	Het
Tas1r2	A	G	4: 139,381,074 (GRCm39)		probably benign	Het
Tnrc6c	T	A	11: 117,630,680 (GRCm39)		probably benign	Het
Trim30b	T	A	7: 104,007,113 (GRCm39)		probably benign	Het
Trim55	T	C	3: 19,727,126 (GRCm39)	S398P	probably benign	Het
Ttc39c	T	A	18: 12,820,003 (GRCm39)		probably benign	Het
Ubxn10	A	G	4: 138,463,178 (GRCm39)		probably null	Het
Usf3	A	G	16: 44,035,976 (GRCm39)	N152S	probably benign	Het
Vps13b	T	A	15: 35,533,445 (GRCm39)	V839E	probably damaging	Het
Zeb1	T	A	18: 5,748,680 (GRCm39)		probably benign	Het
Zfp780b	T	C	7: 27,662,893 (GRCm39)	Y554C	probably benign	Het
Zhx2	C	T	15: 57,684,676 (GRCm39)	T15I	probably damaging	Het

Other mutations in Lipn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01288:Lipn	APN	19	34,056,435 (GRCm39)	missense	probably benign	0.06
IGL01320:Lipn	APN	19	34,062,040 (GRCm39)	missense	probably benign	0.07
IGL01827:Lipn	APN	19	34,046,880 (GRCm39)	missense	probably damaging	1.00
IGL02252:Lipn	APN	19	34,049,157 (GRCm39)	missense	probably benign	0.01
IGL02422:Lipn	APN	19	34,046,063 (GRCm39)	missense	probably benign	0.00
R0081:Lipn	UTSW	19	34,054,376 (GRCm39)	missense	probably benign	0.00
R0284:Lipn	UTSW	19	34,058,106 (GRCm39)	missense	possibly damaging	0.87
R0539:Lipn	UTSW	19	34,062,003 (GRCm39)	unclassified	probably benign
R0749:Lipn	UTSW	19	34,054,379 (GRCm39)	missense	probably damaging	1.00
R1170:Lipn	UTSW	19	34,049,158 (GRCm39)	missense	probably benign	0.23
R1528:Lipn	UTSW	19	34,046,070 (GRCm39)	missense	probably damaging	0.96
R1621:Lipn	UTSW	19	34,046,113 (GRCm39)	missense	probably benign
R1675:Lipn	UTSW	19	34,058,110 (GRCm39)	missense	probably damaging	1.00
R1869:Lipn	UTSW	19	34,058,139 (GRCm39)	missense	possibly damaging	0.93
R3236:Lipn	UTSW	19	34,046,138 (GRCm39)	missense	probably benign	0.17
R3237:Lipn	UTSW	19	34,046,138 (GRCm39)	missense	probably benign	0.17
R3832:Lipn	UTSW	19	34,046,933 (GRCm39)	critical splice donor site	probably null
R3876:Lipn	UTSW	19	34,046,828 (GRCm39)	missense	probably benign	0.00
R4084:Lipn	UTSW	19	34,056,340 (GRCm39)	missense	probably benign	0.04
R4595:Lipn	UTSW	19	34,058,750 (GRCm39)	missense	probably damaging	1.00
R5963:Lipn	UTSW	19	34,058,700 (GRCm39)	missense	probably damaging	0.97
R6018:Lipn	UTSW	19	34,054,335 (GRCm39)	missense	probably damaging	1.00
R6797:Lipn	UTSW	19	34,058,160 (GRCm39)	missense	probably benign
R7090:Lipn	UTSW	19	34,049,180 (GRCm39)	missense	possibly damaging	0.72
R7157:Lipn	UTSW	19	34,054,390 (GRCm39)	nonsense	probably null
R7458:Lipn	UTSW	19	34,049,242 (GRCm39)	missense	probably benign	0.10
R8894:Lipn	UTSW	19	34,062,248 (GRCm39)	makesense	probably null
R8933:Lipn	UTSW	19	34,046,880 (GRCm39)	missense	probably damaging	0.98
R9054:Lipn	UTSW	19	34,054,376 (GRCm39)	missense	possibly damaging	0.56
R9117:Lipn	UTSW	19	34,046,041 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCAGACATCCATTTGCAGCC -3'
(R):5'- ATTTTCCAGGGGTTTTCCTAAAGC -3'

Sequencing Primer
(F):5'- AGACATCCATTTGCAGCCTTTTCG -3'
(R):5'- TAAAGCCTCTCATGGGCCTG -3'

Posted On

2021-07-15