Mutagenetix > Incidental Mutations

Incidental Mutation 'R1528:Lipn'

166413

Institutional Source

Beutler Lab

Gene Symbol

Lipn

Ensembl Gene

ENSMUSG00000024770

Gene Name

lipase, family member N

Synonyms

2210418G03Rik, Lipl4

MMRRC Submission

039568-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1528 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

34067358-34084918 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 34068670 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Methionine at position 14 (I14M)

Ref Sequence

ENSEMBL: ENSMUSP00000120184 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000025682
AA Change: I14M

PolyPhen 2 Score 0.675 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000025682
Gene: ENSMUSG00000024770
AA Change: I14M

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

possibly damaging
Transcript: ENSMUST00000126710
AA Change: I14M

PolyPhen 2 Score 0.675 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000114551
Gene: ENSMUSG00000024770
AA Change: I14M

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 damaging
Transcript: ENSMUST00000148821
AA Change: I14M

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000120184
Gene: ENSMUSG00000024770
AA Change: I14M

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: 99.4%
3x: 98.7%
10x: 97.3%
20x: 95.4%

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610008E11Rik	T	A	10: 79,067,696	Q262L	possibly damaging	Het
4921501E09Rik	A	G	17: 33,067,241	S196P	probably damaging	Het
4932438A13Rik	C	T	3: 37,052,535	H5005Y	unknown	Het
Abcg4	T	C	9: 44,274,723	Y617C	probably damaging	Het
Amph	G	A	13: 19,142,028	V643M	probably damaging	Het
Ano1	T	G	7: 144,595,566	S853R	probably damaging	Het
Ap4e1	T	A	2: 127,011,823	S60R	possibly damaging	Het
Atp4b	C	A	8: 13,389,693	K176N	possibly damaging	Het
Atxn2	A	T	5: 121,802,108	D982V	probably damaging	Het
Atxn2	T	C	5: 121,813,530	F646S	probably damaging	Het
Bcl2l13	T	C	6: 120,870,794	C136R	possibly damaging	Het
Cacna1i	A	G	15: 80,391,774		probably null	Het
Ccdc122	T	A	14: 77,067,939	V11D	possibly damaging	Het
Cdnf	A	G	2: 3,521,041	D90G	probably damaging	Het
Cep104	T	G	4: 153,994,508	V323G	probably benign	Het
Chmp6	A	G	11: 119,916,715	D128G	probably benign	Het
Clec18a	A	T	8: 111,078,866	M201K	probably benign	Het
Col11a1	A	T	3: 114,216,995		probably benign	Het
Col6a4	A	T	9: 106,075,220	M493K	probably damaging	Het
Crygd	A	C	1: 65,063,057		probably null	Het
Dennd1c	T	C	17: 57,066,935	T543A	probably benign	Het
Erbb4	A	T	1: 68,078,582	C891*	probably null	Het
Ercc5	A	T	1: 44,178,241	K915*	probably null	Het
Ercc6	A	T	14: 32,519,022	N168Y	probably damaging	Het
Esrp2	G	T	8: 106,136,752	P6T	unknown	Het
Exoc1	A	G	5: 76,549,564	K396R	possibly damaging	Het
Fat3	T	A	9: 15,925,091	Y4039F	probably benign	Het
Fgf7	T	A	2: 126,035,818	M35K	probably damaging	Het
Fras1	G	A	5: 96,636,819	G887D	probably damaging	Het
Fuk	A	T	8: 110,883,241	L1047Q	probably damaging	Het
Gbp4	A	T	5: 105,121,792		probably null	Het
Homez	A	T	14: 54,857,705	M182K	probably benign	Het
Hrnr	G	A	3: 93,322,794	S113N	possibly damaging	Het
Ifit3b	T	G	19: 34,611,672	S83A	probably benign	Het
Ildr2	A	G	1: 166,270,495		probably null	Het
Klhdc1	A	T	12: 69,263,198	R291S	probably benign	Het
Krt77	T	A	15: 101,861,088	I413F	probably damaging	Het
Macf1	T	G	4: 123,476,014	R86S	probably benign	Het
Mroh8	C	A	2: 157,230,055	G510V	probably damaging	Het
Mycbp2	A	T	14: 103,232,597	D1255E	possibly damaging	Het
Nckap5	C	T	1: 126,024,922	V1234I	possibly damaging	Het
Nlrp9c	T	C	7: 26,382,298	K668E	probably damaging	Het
Nod2	T	C	8: 88,664,589	M508T	possibly damaging	Het
Npffr1	A	G	10: 61,614,237	M97V	possibly damaging	Het
Nsd3	G	A	8: 25,698,767	V43M	probably damaging	Het
Nubp2	A	G	17: 24,884,414	V163A	probably damaging	Het
Oas1e	A	T	5: 120,787,989	F338Y	probably damaging	Het
Oat	C	A	7: 132,564,269	G196C	probably damaging	Het
Olfr1241	C	T	2: 89,482,553	G194D	probably damaging	Het
Olfr57	T	C	10: 79,035,564	L256P	probably damaging	Het
Olfr675	A	T	7: 105,024,764	L72Q	probably damaging	Het
P2ry13	T	C	3: 59,210,289	T23A	probably benign	Het
Pja2	C	A	17: 64,309,222	S226I	possibly damaging	Het
Pkhd1l1	T	C	15: 44,526,724	V1412A	probably damaging	Het
Plekhs1	T	C	19: 56,479,995	S332P	probably damaging	Het
Polr3e	T	A	7: 120,940,597	N522K	probably damaging	Het
Prdm10	A	G	9: 31,357,286	T844A	probably damaging	Het
Ripk1	C	T	13: 34,028,147	P480L	probably benign	Het
Rnf139	T	C	15: 58,899,215	V363A	probably damaging	Het
Rnf19a	A	T	15: 36,265,655	S99T	possibly damaging	Het
Rnf224	G	A	2: 25,236,098	T81I	probably benign	Het
Rpgrip1	T	C	14: 52,112,224	L23S	probably benign	Het
Setd5	T	A	6: 113,121,738	F758L	probably damaging	Het
Smlr1	C	A	10: 25,536,078	V4L	possibly damaging	Het
Snx1	T	C	9: 66,109,543	D34G	probably damaging	Het
Spaca5	A	T	X: 21,076,653	T92S	probably benign	Het
Speer4f2	A	G	5: 17,376,542	T161A		Het
Swi5	C	A	2: 32,280,704		probably null	Het
Syne2	T	A	12: 75,966,100	D2689E	probably benign	Het
Tcof1	T	A	18: 60,814,999	K1299*	probably null	Het
Tmprss11e	G	A	5: 86,724,210	T49I	probably damaging	Het
Tmx3	T	A	18: 90,537,086	V309D	possibly damaging	Het
Trim30b	C	G	7: 104,357,299	V117L	possibly damaging	Het
Tsen2	C	A	6: 115,560,028	H248Q	probably benign	Het
Ttn	T	C	2: 76,737,068	Y19500C	probably damaging	Het
Tubgcp2	A	G	7: 140,033,783		probably benign	Het
Vwf	A	C	6: 125,608,291	D712A	possibly damaging	Het
Wfdc2	A	G	2: 164,565,908	K166E	probably damaging	Het
Xrcc2	T	C	5: 25,692,294	D219G	probably benign	Het
Zc3h6	C	T	2: 129,017,069	P1007S	probably benign	Het
Zdhhc17	A	T	10: 110,948,189		probably null	Het
Zfp369	T	A	13: 65,292,165	I221N	probably damaging	Het
Zfp655	A	T	5: 145,244,601	N423I	probably damaging	Het

Other mutations in Lipn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01288:Lipn	APN	19	34079035	missense	probably benign	0.06
IGL01320:Lipn	APN	19	34084640	missense	probably benign	0.07
IGL01827:Lipn	APN	19	34069480	missense	probably damaging	1.00
IGL02252:Lipn	APN	19	34071757	missense	probably benign	0.01
IGL02422:Lipn	APN	19	34068663	missense	probably benign	0.00
R0081:Lipn	UTSW	19	34076976	missense	probably benign	0.00
R0284:Lipn	UTSW	19	34080706	missense	possibly damaging	0.87
R0539:Lipn	UTSW	19	34084603	unclassified	probably benign
R0749:Lipn	UTSW	19	34076979	missense	probably damaging	1.00
R1170:Lipn	UTSW	19	34071758	missense	probably benign	0.23
R1621:Lipn	UTSW	19	34068713	missense	probably benign
R1675:Lipn	UTSW	19	34080710	missense	probably damaging	1.00
R1869:Lipn	UTSW	19	34080739	missense	possibly damaging	0.93
R3236:Lipn	UTSW	19	34068738	missense	probably benign	0.17
R3237:Lipn	UTSW	19	34068738	missense	probably benign	0.17
R3832:Lipn	UTSW	19	34069533	critical splice donor site	probably null
R3876:Lipn	UTSW	19	34069428	missense	probably benign	0.00
R4084:Lipn	UTSW	19	34078940	missense	probably benign	0.04
R4595:Lipn	UTSW	19	34081350	missense	probably damaging	1.00
R5963:Lipn	UTSW	19	34081300	missense	probably damaging	0.97
R6018:Lipn	UTSW	19	34076935	missense	probably damaging	1.00
R6797:Lipn	UTSW	19	34080760	missense	probably benign
R7090:Lipn	UTSW	19	34071780	missense	possibly damaging	0.72
R7157:Lipn	UTSW	19	34076990	nonsense	probably null
R7458:Lipn	UTSW	19	34071842	missense	probably benign	0.10

Predicted Primers

PCR Primer
(F):5'- CACTCACTGCGTTGGATGAATAAGACT -3'
(R):5'- CCTCCTTTCAGGAGACACCAGAAGA -3'

Sequencing Primer
(F):5'- CGTTGGATGAATAAGACTCCAAG -3'
(R):5'- TGaaatatccaaatgggtttaaaagc -3'

Posted On

2014-04-13