Mutagenetix > Incidental Mutation

Incidental Mutation 'R3236:Lipn'

259069

Institutional Source

Beutler Lab

Gene Symbol

Lipn

Ensembl Gene

ENSMUSG00000024770

Gene Name

lipase, family member N

Synonyms

2210418G03Rik, Lipl4

MMRRC Submission

040618-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3236 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

34044758-34062318 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 34046138 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 37 (N37S)

Ref Sequence

ENSEMBL: ENSMUSP00000120184 (fasta)

Gene Model

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

AlphaFold

Q3U4B4

Predicted Effect

probably benign
Transcript: ENSMUST00000025682
AA Change: N37S

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000025682
Gene: ENSMUSG00000024770
AA Change: N37S

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

noncoding transcript
Transcript: ENSMUST00000117028

Predicted Effect

probably benign
Transcript: ENSMUST00000126710
AA Change: N37S

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000114551
Gene: ENSMUSG00000024770
AA Change: N37S

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
AA Change: N37S

PolyPhen 2 Score 0.168 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000120184
Gene: ENSMUSG00000024770
AA Change: N37S

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

0.3424

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.4%

Validation Efficiency

98% (64/65)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	G	T	12: 71,211,320 (GRCm39)	E685*	probably null	Het
2700049A03Rik	A	T	12: 71,211,321 (GRCm39)	E685V	possibly damaging	Het
5730455P16Rik	G	A	11: 80,258,996 (GRCm39)	L255F	probably damaging	Het
Aff2	T	A	X: 68,907,543 (GRCm39)	V1175E	possibly damaging	Het
Agbl3	A	G	6: 34,800,022 (GRCm39)		probably null	Het
Armh3	A	T	19: 45,963,722 (GRCm39)		probably benign	Het
Atm	T	A	9: 53,391,048 (GRCm39)	D1842V	probably benign	Het
Bcar3	C	A	3: 122,318,645 (GRCm39)	Q678K	probably benign	Het
Ccdc88a	A	G	11: 29,397,995 (GRCm39)	T243A	possibly damaging	Het
Col5a3	G	T	9: 20,718,949 (GRCm39)	N268K	unknown	Het
Col6a1	G	A	10: 76,547,154 (GRCm39)	T737M	unknown	Het
Cyp3a25	T	C	5: 145,939,938 (GRCm39)		probably benign	Het
Dnah17	T	C	11: 117,985,680 (GRCm39)	T1466A	probably benign	Het
Dnah9	G	A	11: 65,845,815 (GRCm39)	T3023I	probably benign	Het
Ecm1	G	T	3: 95,642,158 (GRCm39)	Q476K	possibly damaging	Het
Eml6	A	G	11: 29,781,097 (GRCm39)		probably null	Het
Fbh1	T	C	2: 11,774,637 (GRCm39)	D36G	probably damaging	Het
Fyb1	A	C	15: 6,659,597 (GRCm39)	D434A	probably damaging	Het
Gm5478	A	G	15: 101,552,738 (GRCm39)	Y398H	probably damaging	Het
H2-Q6	C	A	17: 35,644,676 (GRCm39)	T155K	probably damaging	Het
Hk1	T	C	10: 62,131,798 (GRCm39)		probably null	Het
Kdm6b	A	G	11: 69,297,192 (GRCm39)	Y387H	probably damaging	Het
Lrig3	G	A	10: 125,833,056 (GRCm39)	C310Y	probably damaging	Het
Map6	T	A	7: 98,986,031 (GRCm39)	V645E	probably damaging	Het
Memo1	A	T	17: 74,509,347 (GRCm39)	I224K	probably damaging	Het
Morc2a	T	C	11: 3,633,612 (GRCm39)	I602T	probably benign	Het
N4bp3	A	T	11: 51,536,761 (GRCm39)	F104Y	probably damaging	Het
Ndrg3	T	A	2: 156,785,957 (GRCm39)	I161F	probably damaging	Het
Notch3	T	C	17: 32,377,435 (GRCm39)	R214G	probably damaging	Het
Obscn	T	C	11: 59,022,472 (GRCm39)	R758G	possibly damaging	Het
Or14j10	T	C	17: 37,935,127 (GRCm39)	E133G	possibly damaging	Het
Or4p7	T	C	2: 88,221,750 (GRCm39)	I53T	probably benign	Het
Pdgfra	T	C	5: 75,328,597 (GRCm39)	V243A	probably damaging	Het
Piwil4	A	G	9: 14,611,544 (GRCm39)		probably benign	Het
Plxna2	C	T	1: 194,431,625 (GRCm39)	S538F	probably damaging	Het
Pon2	A	T	6: 5,266,986 (GRCm39)	N252K	possibly damaging	Het
Ptf1a	T	C	2: 19,450,718 (GRCm39)	F16S	probably damaging	Het
Rasgrp1	A	G	2: 117,122,293 (GRCm39)	Y366H	probably benign	Het
Rbfox1	G	A	16: 7,225,892 (GRCm39)	V353I	possibly damaging	Het
Rrh	T	C	3: 129,605,360 (GRCm39)	Y110C	probably damaging	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Scaf4	T	A	16: 90,057,105 (GRCm39)	D82V	unknown	Het
Serhl	C	A	15: 82,988,604 (GRCm39)	P177Q	probably damaging	Het
Setdb1	A	G	3: 95,246,065 (GRCm39)	V619A	probably damaging	Het
Sf3b3	A	G	8: 111,538,652 (GRCm39)	S1123P	probably damaging	Het
Slc1a3	T	C	15: 8,668,607 (GRCm39)	I453V	probably damaging	Het
Slf2	A	G	19: 44,930,773 (GRCm39)	I617V	probably benign	Het
Snrnp200	T	A	2: 127,063,802 (GRCm39)	D660E	probably damaging	Het
Spata22	T	A	11: 73,236,713 (GRCm39)	F340I	probably damaging	Het
Speer4e1	T	A	5: 14,984,939 (GRCm39)	E206D	possibly damaging	Het
Stard6	T	A	18: 70,633,557 (GRCm39)	M188K	probably damaging	Het
Stat6	G	A	10: 127,488,091 (GRCm39)	V282I	possibly damaging	Het
Supt20	T	C	3: 54,616,501 (GRCm39)	S253P	possibly damaging	Het
Szt2	A	C	4: 118,240,231 (GRCm39)		probably null	Het
Thsd4	C	A	9: 60,301,670 (GRCm39)	K208N	probably benign	Het
Thsd7b	C	T	1: 130,145,855 (GRCm39)	Q1588*	probably null	Het
Tmem167	C	T	13: 90,252,499 (GRCm39)	R52C	probably benign	Het
Ttn	T	C	2: 76,729,753 (GRCm39)		probably benign	Het
Usp39	G	A	6: 72,315,372 (GRCm39)		probably benign	Het
Vmn2r112	T	A	17: 22,822,096 (GRCm39)	V258E	probably damaging	Het
Vmn2r24	C	T	6: 123,755,984 (GRCm39)	Q19*	probably null	Het
Vps13b	G	A	15: 35,910,450 (GRCm39)	E3405K	probably benign	Het
Zgrf1	A	G	3: 127,407,024 (GRCm39)	D1597G	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
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
R8824:Lipn	UTSW	19	34,062,116 (GRCm39)	missense	probably benign	0.04
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'- GACTCCAAGTAACTTCCCCTG -3'
(R):5'- AGAGATGGTAAAGTTCCATGCC -3'

Sequencing Primer
(F):5'- TGGTTCTTCTATAAAGCAACCAACC -3'
(R):5'- GTTCCATGCCAATAGAATTCTGTC -3'

Posted On

2015-01-23