Mutagenetix > Incidental Mutation

Incidental Mutation 'R6018:Lipn'

478751

Institutional Source

Beutler Lab

Gene Symbol

Lipn

Ensembl Gene

ENSMUSG00000024770

Gene Name

lipase, family member N

Synonyms

2210418G03Rik, Lipl4

MMRRC Submission

044192-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6018 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

34044758-34062318 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 34054335 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 191 (L191Q)

Ref Sequence

ENSEMBL: ENSMUSP00000025682 (fasta)

Gene Model

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

AlphaFold

Q3U4B4

Predicted Effect

probably damaging
Transcript: ENSMUST00000025682
AA Change: L191Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000025682
Gene: ENSMUSG00000024770
AA Change: L191Q

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: 99.9%
3x: 99.5%
10x: 97.3%
20x: 91.6%

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	A	T	3: 124,210,448 (GRCm39)	Y155N	probably damaging	Het
1700019A02Rik	C	T	1: 53,202,405 (GRCm39)		probably null	Het
2310022B05Rik	A	G	8: 125,365,853 (GRCm39)	F297L	probably benign	Het
Acbd3	T	C	1: 180,579,903 (GRCm39)	S516P	possibly damaging	Het
Agbl3	A	G	6: 34,776,190 (GRCm39)	N227S	probably damaging	Het
Ak6	C	T	13: 100,802,459 (GRCm39)	Q151*	probably null	Het
Ano4	A	G	10: 88,865,128 (GRCm39)	L297P	probably benign	Het
Anxa5	T	C	3: 36,504,807 (GRCm39)	T252A	probably benign	Het
Ap5s1	G	A	2: 131,054,915 (GRCm39)	W212*	probably null	Het
Arl9	A	G	5: 77,155,253 (GRCm39)	Q113R	probably damaging	Het
Atg2b	T	C	12: 105,627,430 (GRCm39)	H519R	probably damaging	Het
Atp1a2	A	G	1: 172,125,579 (GRCm39)		probably benign	Het
Atp2b1	G	A	10: 98,846,622 (GRCm39)	A808T	probably damaging	Het
Bckdhb	C	A	9: 83,951,237 (GRCm39)	T342K	probably benign	Het
Bdp1	T	C	13: 100,174,732 (GRCm39)	H1996R	probably benign	Het
Brix1	C	T	15: 10,476,675 (GRCm39)	R267H	probably benign	Het
Ccdc180	A	G	4: 45,926,235 (GRCm39)	I1148M	probably damaging	Het
Csf3r	T	A	4: 125,937,414 (GRCm39)	M766K	probably benign	Het
Ctnnd1	T	A	2: 84,480,812 (GRCm39)		probably benign	Het
Cyp2c39	A	T	19: 39,499,436 (GRCm39)	N41I	probably damaging	Het
D2hgdh	G	T	1: 93,754,182 (GRCm39)	V52L	probably benign	Het
Dppa4	T	A	16: 48,109,490 (GRCm39)	Y77*	probably null	Het
Eif4enif1	T	C	11: 3,192,481 (GRCm39)	S770P	probably damaging	Het
Fbxl16	A	T	17: 26,036,709 (GRCm39)	D230V	probably damaging	Het
Gm4847	G	A	1: 166,471,017 (GRCm39)	A11V	probably damaging	Het
Gm9978	C	T	10: 78,322,915 (GRCm39)		noncoding transcript	Het
Gpatch8	A	G	11: 102,371,741 (GRCm39)	L599P	unknown	Het
Hdac4	A	G	1: 91,886,120 (GRCm39)	L254P	probably damaging	Het
Heatr1	A	G	13: 12,419,828 (GRCm39)	I384V	probably benign	Het
Heatr1	A	T	13: 12,420,939 (GRCm39)	Q410L	probably benign	Het
Hmcn2	A	G	2: 31,260,804 (GRCm39)	I1065V	probably benign	Het
Igkv6-14	A	G	6: 70,412,024 (GRCm39)	S87P	probably damaging	Het
Il2rb	G	T	15: 78,366,266 (GRCm39)	Q344K	possibly damaging	Het
Ipo4	A	G	14: 55,863,609 (GRCm39)		probably null	Het
Ipo9	A	G	1: 135,318,274 (GRCm39)		probably null	Het
Khdrbs1	T	C	4: 129,613,887 (GRCm39)	T374A	probably benign	Het
Lamc3	G	T	2: 31,795,724 (GRCm39)	G370W	probably damaging	Het
Lpl	T	C	8: 69,353,940 (GRCm39)	V427A	probably benign	Het
Magi3	T	C	3: 104,013,128 (GRCm39)	S120G	probably damaging	Het
Mgl2	T	C	11: 70,027,937 (GRCm39)	*382Q	probably null	Het
Nab2	G	A	10: 127,500,793 (GRCm39)	Q100*	probably null	Het
Nfat5	T	A	8: 108,082,283 (GRCm39)		probably null	Het
Nqo1	T	C	8: 108,115,500 (GRCm39)	H259R	probably damaging	Het
Nrdc	T	A	4: 108,870,944 (GRCm39)	D190E	probably benign	Het
Or5m5	T	A	2: 85,815,148 (GRCm39)		probably benign	Het
Osmr	G	A	15: 6,845,276 (GRCm39)	P830L	probably damaging	Het
Parp14	G	A	16: 35,661,827 (GRCm39)	P1403S	probably benign	Het
Pde11a	T	A	2: 75,848,194 (GRCm39)	M878L	probably benign	Het
Pik3ap1	T	C	19: 41,373,455 (GRCm39)		probably benign	Het
Pla2g3	T	C	11: 3,441,916 (GRCm39)	L360P	probably damaging	Het
Plxnc1	A	G	10: 94,779,710 (GRCm39)	V244A	probably benign	Het
Pramel16	C	T	4: 143,677,469 (GRCm39)	A37T	possibly damaging	Het
Ptpra	T	C	2: 130,345,422 (GRCm39)	V8A	probably benign	Het
Rbbp5	T	C	1: 132,422,078 (GRCm39)	V199A	probably damaging	Het
Rnd2	C	T	11: 101,359,825 (GRCm39)	L57F	probably damaging	Het
Rp1	A	G	1: 4,423,059 (GRCm39)	V7A	possibly damaging	Het
Sdk2	T	C	11: 113,720,889 (GRCm39)	T1347A	probably benign	Het
Sgo2a	T	A	1: 58,056,118 (GRCm39)	H767Q	probably benign	Het
Sis	G	A	3: 72,820,525 (GRCm39)	P1413L	possibly damaging	Het
Slc22a5	G	T	11: 53,766,846 (GRCm39)	A214E	probably damaging	Het
Snx13	G	T	12: 35,097,318 (GRCm39)		probably benign	Het
Sun5	T	A	2: 153,700,363 (GRCm39)	I295F	probably damaging	Het
Themis3	C	T	17: 66,900,204 (GRCm39)	A55T	probably damaging	Het
Tmem255b	T	C	8: 13,505,138 (GRCm39)	Y148H	probably benign	Het
Tmem74b	A	G	2: 151,548,639 (GRCm39)	E122G	probably damaging	Het
Top3b	T	C	16: 16,710,756 (GRCm39)	V862A	probably damaging	Het
Trim35	A	T	14: 66,546,199 (GRCm39)	D322V	probably damaging	Het
Trpm2	A	G	10: 77,753,547 (GRCm39)	F1319S	probably benign	Het
Ttn	T	A	2: 76,785,020 (GRCm39)	R756S	probably benign	Het
Vmn2r108	A	T	17: 20,683,268 (GRCm39)	N645K	possibly damaging	Het
Vmn2r73	A	G	7: 85,521,875 (GRCm39)	S155P	possibly damaging	Het
Vstm4	G	A	14: 32,585,627 (GRCm39)	A65T	probably benign	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
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'- TCAGAGAACCTTTACAATTCTTCCC -3'
(R):5'- ACGTTGAAGTACATCCTCATGG -3'

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

Posted On

2017-06-26