Incidental Mutation 'IGL01288:Lipn'
ID 72829
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lipn
Ensembl Gene ENSMUSG00000024770
Gene Name lipase, family member N
Synonyms 2210418G03Rik, Lipl4
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01288
Quality Score
Status
Chromosome 19
Chromosomal Location 34044758-34062318 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 34056435 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Aspartic acid at position 260 (E260D)
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: E260D

PolyPhen 2 Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000025682
Gene: ENSMUSG00000024770
AA Change: E260D

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:Abhydro_lipase 38 83 2.6e-15 PFAM
Coding Region Coverage
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsf3 G T 8: 123,507,381 (GRCm39) probably benign Het
Acsl3 G T 1: 78,677,476 (GRCm39) W490L possibly damaging Het
Ahnak A G 19: 8,979,858 (GRCm39) I381V possibly damaging Het
Aox1 A G 1: 58,333,566 (GRCm39) Y261C probably damaging Het
Ap3m2 T C 8: 23,293,931 (GRCm39) T40A probably benign Het
Arfgef1 C T 1: 10,283,436 (GRCm39) A158T possibly damaging Het
Atp1a4 T C 1: 172,085,474 (GRCm39) E43G possibly damaging Het
Cog5 C T 12: 31,936,205 (GRCm39) T584I probably benign Het
Cpa1 G A 6: 30,640,582 (GRCm39) V75M probably damaging Het
Cul7 A G 17: 46,968,733 (GRCm39) probably benign Het
Dennd2b A G 7: 109,139,029 (GRCm39) I668T probably damaging Het
Dop1b T C 16: 93,536,181 (GRCm39) I93T possibly damaging Het
Dyrk2 T C 10: 118,696,604 (GRCm39) Y218C probably damaging Het
Efr3b T C 12: 4,032,865 (GRCm39) Y164C probably damaging Het
Etos1 C A 7: 130,373,935 (GRCm39) probably benign Het
Fam13a A G 6: 58,933,712 (GRCm39) Y293H probably damaging Het
Gde1 A T 7: 118,290,863 (GRCm39) V154D possibly damaging Het
Glyat A G 19: 12,627,719 (GRCm39) T105A possibly damaging Het
Il36b A T 2: 24,049,925 (GRCm39) I179L probably benign Het
Kif21b C T 1: 136,099,922 (GRCm39) T1492M probably benign Het
Kmt2d G T 15: 98,762,925 (GRCm39) P282T probably damaging Het
Lgi4 A G 7: 30,768,468 (GRCm39) E489G probably benign Het
Mdn1 A G 4: 32,730,864 (GRCm39) D2911G probably benign Het
Nab2 C T 10: 127,500,978 (GRCm39) R38Q probably damaging Het
Or1e35 A T 11: 73,798,139 (GRCm39) Y60N probably damaging Het
Or4c1 A T 2: 89,133,816 (GRCm39) V40E possibly damaging Het
Or4p22 T A 2: 88,317,592 (GRCm39) I172K probably damaging Het
Or52i2 A G 7: 102,319,858 (GRCm39) T244A probably damaging Het
Or5t16 C A 2: 86,818,598 (GRCm39) M307I probably benign Het
Or6f2 T C 7: 139,756,528 (GRCm39) L165P probably damaging Het
Osbpl6 T C 2: 76,395,167 (GRCm39) S337P probably damaging Het
Phf8 T C X: 150,330,921 (GRCm39) probably null Het
Pik3c2b C T 1: 133,022,543 (GRCm39) H1162Y probably damaging Het
Plek2 T C 12: 78,941,727 (GRCm39) D134G possibly damaging Het
Rnf139 G A 15: 58,771,028 (GRCm39) R351H probably damaging Het
Shld2 A T 14: 33,981,600 (GRCm39) Y513N probably benign Het
Skint5 T C 4: 113,381,332 (GRCm39) probably benign Het
Slc12a9 C T 5: 137,329,200 (GRCm39) probably null Het
Stradb C A 1: 59,031,460 (GRCm39) H216N possibly damaging Het
Tex15 C T 8: 34,061,412 (GRCm39) H281Y probably benign Het
Tg G T 15: 66,608,125 (GRCm39) V237L possibly damaging Het
Tns1 T A 1: 73,992,969 (GRCm39) T570S probably damaging Het
Tpm1 C T 9: 66,943,337 (GRCm39) R105H probably damaging Het
Wdfy3 G T 5: 102,049,857 (GRCm39) probably null Het
Zc3h12c A G 9: 52,028,951 (GRCm39) probably benign Het
Zmynd8 T A 2: 165,654,734 (GRCm39) S584C probably damaging Het
Other mutations in Lipn
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Posted On 2013-10-07