Incidental Mutation 'R3112:Lipe'
ID 477861
Institutional Source Beutler Lab
Gene Symbol Lipe
Ensembl Gene ENSMUSG00000003123
Gene Name lipase, hormone sensitive
Synonyms HSL, 4933403G17Rik
MMRRC Submission 040585-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3112 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 25078952-25097911 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 25097848 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 32 (T32A)
Ref Sequence ENSEMBL: ENSMUSP00000123485 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003207] [ENSMUST00000074040] [ENSMUST00000105177] [ENSMUST00000149349] [ENSMUST00000200880]
AlphaFold P54310
Predicted Effect probably benign
Transcript: ENSMUST00000003207
SMART Domains Protein: ENSMUSP00000003207
Gene: ENSMUSG00000003123

DomainStartEndE-ValueType
Pfam:HSL_N 44 358 4.6e-148 PFAM
Pfam:DUF2424 345 504 1.1e-8 PFAM
Pfam:Abhydrolase_3 388 548 3e-36 PFAM
low complexity region 611 626 N/A INTRINSIC
Pfam:Abhydrolase_3 684 771 6.4e-13 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000074040
SMART Domains Protein: ENSMUSP00000073687
Gene: ENSMUSG00000060188

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Pfam:CXCL17 23 126 2.8e-43 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000105177
AA Change: T32A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000100811
Gene: ENSMUSG00000003123
AA Change: T32A

DomainStartEndE-ValueType
low complexity region 74 90 N/A INTRINSIC
low complexity region 152 167 N/A INTRINSIC
low complexity region 250 261 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000149349
AA Change: T32A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000123485
Gene: ENSMUSG00000003123
AA Change: T32A

DomainStartEndE-ValueType
low complexity region 74 90 N/A INTRINSIC
low complexity region 152 167 N/A INTRINSIC
low complexity region 250 261 N/A INTRINSIC
Pfam:HSL_N 319 627 1.2e-116 PFAM
Pfam:DUF2424 616 774 1.2e-8 PFAM
Pfam:Abhydrolase_3 658 817 1.9e-34 PFAM
low complexity region 881 896 N/A INTRINSIC
Pfam:Abhydrolase_3 951 1041 2.3e-12 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000200880
SMART Domains Protein: ENSMUSP00000144096
Gene: ENSMUSG00000060188

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Pfam:CXCL17 23 111 2.8e-50 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206300
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206436
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.2%
  • 20x: 94.9%
Validation Efficiency 100% (38/38)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene has a long and a short form, generated by use of alternative translational start codons. The long form is expressed in steroidogenic tissues such as testis, where it converts cholesteryl esters to free cholesterol for steroid hormone production. The short form is expressed in adipose tissue, among others, where it hydrolyzes stored triglycerides to free fatty acids. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mutations of this locus result in abnormal lipid homeostasis and, in some lines, defects in spermatogenesis. [provided by MGI curators]
Allele List at MGI

All alleles(9) : Targeted, knock-out(2) Targeted, other(5) Gene trapped(2)

Other mutations in this stock
Total: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca6 T A 11: 110,069,655 (GRCm39) K1554* probably null Het
Acads T C 5: 115,255,757 (GRCm39) H26R probably benign Het
Acer1 G A 17: 57,265,406 (GRCm39) T141I probably damaging Het
Adam15 C G 3: 89,254,764 (GRCm39) V99L probably benign Het
Ankrd13b A G 11: 77,368,331 (GRCm39) V97A possibly damaging Het
Anpep T C 7: 79,491,720 (GRCm39) T94A probably benign Het
Atp1a3 T C 7: 24,694,119 (GRCm39) N345S probably damaging Het
Btn1a1 T A 13: 23,645,721 (GRCm39) N216I possibly damaging Het
Cacna1s G A 1: 136,002,831 (GRCm39) W62* probably null Het
Ccdc141 C T 2: 76,869,830 (GRCm39) V892I probably benign Het
Ccdc180 T A 4: 45,900,470 (GRCm39) I278K possibly damaging Het
Cdc7 T G 5: 107,122,564 (GRCm39) probably null Het
Cpb1 C T 3: 20,319,521 (GRCm39) V188M probably damaging Het
Dock5 A G 14: 68,095,371 (GRCm39) I101T possibly damaging Het
Dqx1 T C 6: 83,035,953 (GRCm39) V95A probably damaging Het
Dvl1 T A 4: 155,938,123 (GRCm39) D90E probably damaging Het
Fam135b T C 15: 71,335,879 (GRCm39) I438M probably benign Het
Fpr1 A T 17: 18,096,897 (GRCm39) M364K probably benign Het
Gpat4 G A 8: 23,670,171 (GRCm39) P286L probably damaging Het
Gpx7 C A 4: 108,260,470 (GRCm39) V109F probably damaging Het
Grhl2 T C 15: 37,336,591 (GRCm39) probably null Het
Grn A G 11: 102,324,069 (GRCm39) T53A probably benign Het
H1f4 T C 13: 23,805,829 (GRCm39) probably benign Het
H2-T9 T C 17: 36,440,038 (GRCm39) Y32C probably damaging Het
Hmgxb3 T C 18: 61,280,454 (GRCm39) N683S probably damaging Het
Iigp1 T C 18: 60,523,983 (GRCm39) I367T probably benign Het
Itfg2 T C 6: 128,388,632 (GRCm39) E285G probably damaging Het
Itgav T A 2: 83,622,915 (GRCm39) C662* probably null Het
Jarid2 T A 13: 45,059,752 (GRCm39) N661K probably damaging Het
Lrrk2 A G 15: 91,698,898 (GRCm39) Y2475C probably benign Het
Mcc T C 18: 44,582,330 (GRCm39) D607G probably damaging Het
Mip T A 10: 128,061,875 (GRCm39) L42* probably null Het
Mlc1 A T 15: 88,850,199 (GRCm39) D192E probably benign Het
Muc2 T C 7: 141,299,225 (GRCm39) probably benign Het
Mybl1 T C 1: 9,752,095 (GRCm39) D260G probably damaging Het
Ncln C T 10: 81,323,519 (GRCm39) V51I probably benign Het
Nlrp9a T C 7: 26,257,297 (GRCm39) V305A probably benign Het
Nodal G A 10: 61,260,276 (GRCm39) R309Q possibly damaging Het
Olr1 T C 6: 129,476,881 (GRCm39) N128S possibly damaging Het
Or10ak14 A T 4: 118,611,421 (GRCm39) F105I probably damaging Het
Or12j5 A G 7: 140,083,832 (GRCm39) I180T probably damaging Het
Or14a256 T C 7: 86,264,884 (GRCm39) Y323C probably benign Het
Orc1 T A 4: 108,461,757 (GRCm39) C585S probably benign Het
Pcmtd2 A T 2: 181,496,922 (GRCm39) I300F probably damaging Het
Pfkfb4 C T 9: 108,854,110 (GRCm39) probably benign Het
Phactr3 T A 2: 177,920,810 (GRCm39) L180Q possibly damaging Het
Pigo T C 4: 43,021,083 (GRCm39) T612A probably benign Het
Plch1 T A 3: 63,616,952 (GRCm39) D766V probably damaging Het
Plekhh3 T C 11: 101,054,973 (GRCm39) probably benign Het
Potefam1 T G 2: 111,058,399 (GRCm39) L131F probably damaging Het
Ppp1r12b T A 1: 134,800,570 (GRCm39) T547S probably damaging Het
Prkcb T A 7: 122,116,079 (GRCm39) M186K probably damaging Het
Prpf3 A T 3: 95,757,112 (GRCm39) probably benign Het
Psg23 T C 7: 18,344,369 (GRCm39) D362G possibly damaging Het
Reg3a T C 6: 78,358,114 (GRCm39) L15P probably damaging Het
Scrib A T 15: 75,941,223 (GRCm39) I5N probably damaging Het
Speg C T 1: 75,399,326 (GRCm39) Q2005* probably null Het
Sppl3 A T 5: 115,212,923 (GRCm39) S51C possibly damaging Het
Sspo A G 6: 48,434,534 (GRCm39) T1009A probably damaging Het
Syce1l A G 8: 114,381,579 (GRCm39) Q164R probably benign Het
Sympk T C 7: 18,768,409 (GRCm39) V126A possibly damaging Het
Tas2r110 T A 6: 132,844,987 (GRCm39) I6K unknown Het
Tas2r120 A T 6: 132,634,731 (GRCm39) H271L probably damaging Het
Tlcd3a A G 11: 76,093,057 (GRCm39) D33G probably benign Het
Tnn T A 1: 159,943,856 (GRCm39) T986S possibly damaging Het
Trim5 T C 7: 103,928,845 (GRCm39) H32R probably damaging Het
Ttc13 A G 8: 125,410,573 (GRCm39) I360T possibly damaging Het
Uaca A G 9: 60,778,781 (GRCm39) E1054G probably damaging Het
Usp16 T A 16: 87,268,736 (GRCm39) probably null Het
Wee1 T A 7: 109,730,043 (GRCm39) S382R probably damaging Het
Wnt11 T C 7: 98,495,771 (GRCm39) S92P probably damaging Het
Zfp1004 C G 2: 150,034,141 (GRCm39) P185R probably damaging Het
Zfp786 A G 6: 47,797,160 (GRCm39) C593R probably damaging Het
Zfp879 T G 11: 50,723,989 (GRCm39) I283L possibly damaging Het
Other mutations in Lipe
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00094:Lipe APN 7 25,082,977 (GRCm39) missense probably damaging 1.00
IGL00517:Lipe APN 7 25,087,985 (GRCm39) splice site probably null
IGL00817:Lipe APN 7 25,087,874 (GRCm39) missense probably damaging 1.00
IGL01459:Lipe APN 7 25,082,967 (GRCm39) missense probably damaging 1.00
IGL01946:Lipe APN 7 25,082,701 (GRCm39) missense possibly damaging 0.90
IGL02931:Lipe APN 7 25,082,760 (GRCm39) splice site probably benign
IGL02973:Lipe APN 7 25,083,057 (GRCm39) missense probably damaging 0.98
IGL03091:Lipe APN 7 25,080,180 (GRCm39) missense probably damaging 1.00
fett UTSW 7 25,088,007 (GRCm39) missense probably benign
grassa UTSW 7 25,084,750 (GRCm39) missense probably damaging 0.99
reservoir UTSW 7 25,079,568 (GRCm39) missense probably damaging 1.00
3-1:Lipe UTSW 7 25,097,245 (GRCm39) missense probably damaging 0.97
PIT4243001:Lipe UTSW 7 25,094,971 (GRCm39) missense probably benign
R0062:Lipe UTSW 7 25,097,874 (GRCm39) missense possibly damaging 0.46
R0062:Lipe UTSW 7 25,097,874 (GRCm39) missense possibly damaging 0.46
R0432:Lipe UTSW 7 25,097,913 (GRCm39) missense probably benign 0.00
R0528:Lipe UTSW 7 25,097,901 (GRCm39) missense possibly damaging 0.92
R0534:Lipe UTSW 7 25,087,611 (GRCm39) missense possibly damaging 0.66
R1487:Lipe UTSW 7 25,084,240 (GRCm39) missense possibly damaging 0.47
R1502:Lipe UTSW 7 25,097,572 (GRCm39) missense possibly damaging 0.66
R1606:Lipe UTSW 7 25,087,569 (GRCm39) missense probably damaging 1.00
R1713:Lipe UTSW 7 25,084,750 (GRCm39) missense probably damaging 0.99
R2147:Lipe UTSW 7 25,087,946 (GRCm39) missense probably benign 0.01
R3031:Lipe UTSW 7 25,084,320 (GRCm39) missense possibly damaging 0.65
R3110:Lipe UTSW 7 25,097,848 (GRCm39) missense probably benign
R3792:Lipe UTSW 7 25,097,045 (GRCm39) missense possibly damaging 0.82
R4453:Lipe UTSW 7 25,097,115 (GRCm39) missense probably damaging 0.99
R4582:Lipe UTSW 7 25,097,127 (GRCm39) missense probably benign
R4816:Lipe UTSW 7 25,079,568 (GRCm39) missense probably damaging 1.00
R5639:Lipe UTSW 7 25,082,750 (GRCm39) missense probably benign 0.00
R5653:Lipe UTSW 7 25,097,833 (GRCm39) missense probably benign 0.08
R6322:Lipe UTSW 7 25,079,961 (GRCm39) missense probably damaging 1.00
R6575:Lipe UTSW 7 25,082,749 (GRCm39) missense probably benign 0.03
R7065:Lipe UTSW 7 25,084,603 (GRCm39) critical splice donor site probably null
R7250:Lipe UTSW 7 25,088,085 (GRCm39) start gained probably benign
R7485:Lipe UTSW 7 25,080,036 (GRCm39) missense probably benign 0.01
R7636:Lipe UTSW 7 25,088,042 (GRCm39) missense probably benign 0.42
R8447:Lipe UTSW 7 25,080,017 (GRCm39) missense probably damaging 1.00
R8754:Lipe UTSW 7 25,088,007 (GRCm39) missense probably benign
R9025:Lipe UTSW 7 25,083,923 (GRCm39) missense probably damaging 0.99
R9399:Lipe UTSW 7 25,097,227 (GRCm39) missense probably benign 0.35
R9594:Lipe UTSW 7 25,098,128 (GRCm39) unclassified probably benign
R9615:Lipe UTSW 7 25,097,326 (GRCm39) nonsense probably null
Predicted Primers
Posted On 2017-05-15