Incidental Mutation 'R4453:Lipe'
ID 329044
Institutional Source Beutler Lab
Gene Symbol Lipe
Ensembl Gene ENSMUSG00000003123
Gene Name lipase, hormone sensitive
Synonyms HSL, 4933403G17Rik
MMRRC Submission 041152-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4453 (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 A at 25097115 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Isoleucine at position 276 (K276I)
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 damaging
Transcript: ENSMUST00000105177
AA Change: K276I

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000100811
Gene: ENSMUSG00000003123
AA Change: K276I

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 damaging
Transcript: ENSMUST00000149349
AA Change: K276I

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000123485
Gene: ENSMUSG00000003123
AA Change: K276I

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
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.6%
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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ano7 A G 1: 93,322,075 (GRCm39) D361G probably damaging Het
Atp10a TGGCGGCGGC TGGCGGC 7: 58,308,248 (GRCm39) probably benign Het
Ccdc86 G T 19: 10,925,883 (GRCm39) P239T probably damaging Het
Ces2h G A 8: 105,741,288 (GRCm39) probably null Het
Ckap5 T A 2: 91,379,190 (GRCm39) S43R probably damaging Het
Cpne6 G A 14: 55,750,054 (GRCm39) V62M probably damaging Het
Dmbt1 T C 7: 130,642,664 (GRCm39) C161R probably damaging Het
Dnajc10 T C 2: 80,176,967 (GRCm39) S641P probably damaging Het
Fat3 G A 9: 15,909,567 (GRCm39) S2145F probably damaging Het
Grm2 G A 9: 106,531,078 (GRCm39) T137I probably damaging Het
Gusb A G 5: 130,027,324 (GRCm39) V327A possibly damaging Het
Helz C T 11: 107,563,455 (GRCm39) Q1631* probably null Het
Hspa1a A G 17: 35,189,269 (GRCm39) Y545H probably benign Het
Hus1 A T 11: 8,956,035 (GRCm39) M166K probably damaging Het
Kcnh1 C A 1: 192,187,825 (GRCm39) T762K probably damaging Het
Limd1 C A 9: 123,309,359 (GRCm39) Q353K possibly damaging Het
Ntpcr G A 8: 126,462,929 (GRCm39) V49I probably benign Het
Or6c70 T C 10: 129,710,530 (GRCm39) N32S probably null Het
Ppp1r1c A G 2: 79,538,575 (GRCm39) I20V possibly damaging Het
Prdm13 G T 4: 21,679,464 (GRCm39) A342E unknown Het
Prkd3 C A 17: 79,290,975 (GRCm39) R180L probably damaging Het
Prune2 T C 19: 17,099,274 (GRCm39) F1593L probably benign Het
Rims2 T A 15: 39,155,603 (GRCm39) C95S probably damaging Het
Stard9 A G 2: 120,528,272 (GRCm39) M1510V probably benign Het
Taf12 A G 4: 132,010,306 (GRCm39) I92V probably benign Het
Tma16 C T 8: 66,936,823 (GRCm39) probably null Het
Tssk5 G A 15: 76,258,743 (GRCm39) R48C probably benign Het
Wwtr1 T C 3: 57,482,680 (GRCm39) probably null Het
Zfp286 C G 11: 62,671,030 (GRCm39) G348R probably damaging Het
Zfp473 T A 7: 44,382,678 (GRCm39) T552S probably damaging Het
Zzef1 T C 11: 72,763,465 (GRCm39) F1371L 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
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
R3112:Lipe UTSW 7 25,097,848 (GRCm39) missense probably benign
R3792:Lipe UTSW 7 25,097,045 (GRCm39) missense possibly damaging 0.82
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'- CCTTCAGAGATGACCTGAGC -3'
(R):5'- AGGGATCTTTGACTGAGTCAGG -3'

Sequencing Primer
(F):5'- TCAGAGATGACCTGAGCGTTATGATC -3'
(R):5'- GGTTTCTAACAAGGCTGCATGACC -3'
Posted On 2015-07-21