Incidental Mutation 'PIT4243001:Lipe'
ID 554459
Institutional Source Beutler Lab
Gene Symbol Lipe
Ensembl Gene ENSMUSG00000003123
Gene Name lipase, hormone sensitive
Synonyms HSL, 4933403G17Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # PIT4243001 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 25078952-25097911 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 25094971 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Alanine at position 22 (S22A)
Ref Sequence ENSEMBL: ENSMUSP00000003207 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003207] [ENSMUST00000074040] [ENSMUST00000105177] [ENSMUST00000149349] [ENSMUST00000200880]
AlphaFold P54310
Predicted Effect probably benign
Transcript: ENSMUST00000003207
AA Change: S22A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000003207
Gene: ENSMUSG00000003123
AA Change: S22A

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
SMART Domains Protein: ENSMUSP00000100811
Gene: ENSMUSG00000003123

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
SMART Domains Protein: ENSMUSP00000123485
Gene: ENSMUSG00000003123

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
Coding Region Coverage
  • 1x: 92.7%
  • 3x: 90.5%
  • 10x: 85.2%
  • 20x: 74.3%
Validation Efficiency
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310003L06Rik A T 5: 88,119,999 (GRCm39) E252V possibly damaging Het
Abhd13 T C 8: 10,037,967 (GRCm39) F188S possibly damaging Het
Abtb1 A G 6: 88,815,708 (GRCm39) V225A probably benign Het
Accs A G 2: 93,671,679 (GRCm39) M237T probably benign Het
Adcy9 A G 16: 4,236,271 (GRCm39) I380T probably damaging Het
Add3 T C 19: 53,225,121 (GRCm39) S414P probably benign Het
Ak3 C T 19: 29,015,271 (GRCm39) probably null Het
Atg14 T C 14: 47,792,031 (GRCm39) E132G possibly damaging Het
Bcl2l11 A G 2: 127,989,026 (GRCm39) E135G probably benign Het
Brwd1 G A 16: 95,803,871 (GRCm39) Q2100* probably null Het
Card11 A C 5: 140,894,359 (GRCm39) V90G possibly damaging Het
Celsr3 T C 9: 108,709,507 (GRCm39) V1451A probably benign Het
Clip4 T C 17: 72,113,723 (GRCm39) I291T probably damaging Het
Clk1 C T 1: 58,458,836 (GRCm39) D179N probably damaging Het
Cyp11b2 A G 15: 74,723,302 (GRCm39) L454P probably damaging Het
Cyp2a12 C A 7: 26,734,198 (GRCm39) S377Y probably benign Het
Ep400 A G 5: 110,883,446 (GRCm39) S663P unknown Het
Erich6 G A 3: 58,537,300 (GRCm39) T238I possibly damaging Het
Herc1 T A 9: 66,279,489 (GRCm39) H132Q probably benign Het
Hk2 A G 6: 82,707,858 (GRCm39) C704R probably damaging Het
Ift74 A T 4: 94,575,141 (GRCm39) R531W possibly damaging Het
Ism2 T C 12: 87,333,832 (GRCm39) E71G probably benign Het
Myl10 A G 5: 136,723,147 (GRCm39) D32G probably benign Het
Nomo1 A G 7: 45,693,705 (GRCm39) H179R probably damaging Het
Or1ad6 T C 11: 50,860,379 (GRCm39) F178S probably damaging Het
Or2n1b T C 17: 38,460,394 (GRCm39) F305S probably benign Het
Pdpn T A 4: 142,997,108 (GRCm39) T129S probably damaging Het
Pold1 C T 7: 44,191,582 (GRCm39) V135I possibly damaging Het
Rasgrp3 T A 17: 75,807,134 (GRCm39) N199K probably damaging Het
Skil T C 3: 31,167,714 (GRCm39) S449P probably damaging Het
Spag16 T C 1: 69,892,540 (GRCm39) L107P probably damaging Het
Tbccd1 A G 16: 22,641,087 (GRCm39) M430T probably damaging Het
Tnfaip3 G A 10: 18,887,322 (GRCm39) L68F probably damaging Het
Trrap G A 5: 144,733,781 (GRCm39) R878H probably benign Het
Vasn T C 16: 4,467,480 (GRCm39) S476P probably damaging Het
Vmn2r110 T A 17: 20,802,379 (GRCm39) M499L probably benign Het
Wwp1 T C 4: 19,638,631 (GRCm39) T571A probably damaging Het
Zfp608 C A 18: 55,031,096 (GRCm39) G948V probably damaging Het
Zswim5 A G 4: 116,841,975 (GRCm39) I852V probably benign 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
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
R3112: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 PCR Primer
(F):5'- GGGCATTCTACTCTCACATCAC -3'
(R):5'- TTAATCTGAGCAGATGGGCG -3'

Sequencing Primer
(F):5'- TGGAAGTGGGTCAGTTCC -3'
(R):5'- CCACCCATTAAAGGCGGAG -3'
Posted On 2019-06-07