Mutagenetix > Incidental Mutation

Incidental Mutation 'R9117:Lipn'

692630

Institutional Source

Beutler Lab

Gene Symbol

Lipn

Ensembl Gene

ENSMUSG00000024770

Gene Name

lipase, family member N

Synonyms

2210418G03Rik, Lipl4

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9117 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

34067358-34084918 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 34068641 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 5 (W5R)

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: W5R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000025682
Gene: ENSMUSG00000024770
AA Change: W5R

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: W5R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000114551
Gene: ENSMUSG00000024770
AA Change: W5R

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: W5R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000120184
Gene: ENSMUSG00000024770
AA Change: W5R

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: 99.7%
20x: 98.9%

Validation Efficiency

98% (56/57)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310061I04Rik	C	G	17: 35,893,071	S185T	probably benign	Het
Agfg1	T	G	1: 82,894,495	F516L	possibly damaging	Het
Akap5	T	A	12: 76,327,818	M8K	possibly damaging	Het
Aldh1l2	C	T	10: 83,506,681	V535I	probably benign	Het
Atg3	T	C	16: 45,186,201	V277A	probably damaging	Het
Bloc1s6	C	T	2: 122,746,614	P168L	probably damaging	Het
Ccdc173	G	T	2: 69,781,759	S175*	probably null	Het
Ccr7	A	G	11: 99,145,260	Y279H	probably damaging	Het
Clint1	A	G	11: 45,890,735	T211A	probably damaging	Het
Dchs2	T	G	3: 83,269,355	D873E	probably benign	Het
Dhx30	A	G	9: 110,097,096	L149P	probably damaging	Het
Dnah1	T	C	14: 31,311,624		probably benign	Het
Dtx1	A	G	5: 120,710,291	V8A	probably benign	Het
Enpp3	T	A	10: 24,826,180	K91N	possibly damaging	Het
Fcho1	C	T	8: 71,712,068	G523E	possibly damaging	Het
Ffar2	T	C	7: 30,819,191	E308G	probably damaging	Het
Foxb2	T	C	19: 16,873,394	K83E	unknown	Het
Git2	A	G	5: 114,749,560		probably null	Het
Gm10024	T	C	10: 77,711,505	S17P	unknown	Het
Greb1l	A	T	18: 10,542,422	Y1339F	probably benign	Het
Grhl2	T	A	15: 37,270,668	D33E	probably damaging	Het
Herc4	C	A	10: 63,290,521	L551I	probably benign	Het
Igfn1	T	A	1: 135,974,790	T390S	probably benign	Het
Ighv3-1	T	A	12: 113,964,469	H90L	probably benign	Het
Jag2	G	T	12: 112,913,659	Y697*	probably null	Het
Kif1c	T	C	11: 70,704,972	V168A	probably damaging	Het
Mavs	G	A	2: 131,245,325	A248T	probably benign	Het
Megf10	G	A	18: 57,259,701	G390D	probably damaging	Het
Mib1	A	G	18: 10,793,023	H653R	probably benign	Het
Mrps9	T	G	1: 42,903,377	S332A	probably benign	Het
Muc5b	T	C	7: 141,869,333	C4498R	possibly damaging	Het
Myo15b	T	A	11: 115,887,917	I1157N	possibly damaging	Het
Myo9b	C	T	8: 71,347,807	T1002M	probably benign	Het
Nav3	T	A	10: 109,684,239	M2328L	probably benign	Het
Olfr186	T	C	16: 59,027,290	I206V	probably benign	Het
Olfr917	T	A	9: 38,665,810	E11D	probably benign	Het
Pawr	T	C	10: 108,333,279	S155P	probably damaging	Het
Pcdhb15	G	T	18: 37,475,037	V441F	probably damaging	Het
Plekhg3	A	G	12: 76,578,131	D1250G	probably benign	Het
Ptprs	T	A	17: 56,435,853	M430L	possibly damaging	Het
Raly	T	A	2: 154,861,865	S119T	probably damaging	Het
Serpinb6a	A	T	13: 33,925,429	S128T	probably benign	Het
Sirt3	C	T	7: 140,869,449		probably benign	Het
Slc22a7	A	G	17: 46,437,103	F210L	probably damaging	Het
Speg	G	T	1: 75,387,800	S275I	probably damaging	Het
Stk32c	C	T	7: 139,188,225	D47N	unknown	Het
Stra6	T	G	9: 58,152,539	S594R	probably benign	Het
Sun2	T	C	15: 79,730,316	H295R	probably benign	Het
Syne1	T	C	10: 5,103,667	Q7470R	probably damaging	Het
Syt14	A	T	1: 192,983,818	H259Q	unknown	Het
Toporsl	A	T	4: 52,609,943		probably benign	Het
Trim50	A	G	5: 135,353,683	S130G	possibly damaging	Het
Tyw1	G	A	5: 130,269,224	R202Q	probably damaging	Het
Wdr18	T	C	10: 79,965,320	V189A	probably benign	Het
Zfat	C	A	15: 68,187,069	A206S	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
R1528:Lipn	UTSW	19	34068670	missense	probably damaging	0.96
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
R8824:Lipn	UTSW	19	34084716	missense	probably benign	0.04
R8894:Lipn	UTSW	19	34084848	makesense	probably null
R8933:Lipn	UTSW	19	34069480	missense	probably damaging	0.98
R9054:Lipn	UTSW	19	34076976	missense	possibly damaging	0.56

Predicted Primers

PCR Primer
(F):5'- ACTGCGTTGGATGAATAAGACTCC -3'
(R):5'- TCAGTCAAAGAATTCAGCTTGACAC -3'

Sequencing Primer
(F):5'- CAAGTAACTTCCCCTGTATTTGG -3'
(R):5'- TTATCTAAGAGTTTTGCTATTGGACC -3'

Posted On

2021-12-30