Mutagenetix > Incidental Mutation

Incidental Mutation 'R0432:Lipe'

38828

Institutional Source

Beutler Lab

Gene Symbol

Lipe

Ensembl Gene

ENSMUSG00000003123

Gene Name

lipase, hormone sensitive

Synonyms

HSL, 4933403G17Rik

MMRRC Submission

038634-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0432 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

25078952-25097911 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 25097913 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 10 (P10L)

Ref Sequence

ENSEMBL: ENSMUSP00000100811 (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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Pfam:CXCL17	23	126	2.8e-43	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000105177
AA Change: P10L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000100811
Gene: ENSMUSG00000003123
AA Change: P10L

Domain	Start	End	E-Value	Type
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: P10L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000123485
Gene: ENSMUSG00000003123
AA Change: P10L

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Coding Region Coverage

1x: 99.2%
3x: 98.3%
10x: 96.3%
20x: 92.9%

Validation Efficiency

99% (91/92)

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: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310061I04Rik	A	G	17: 36,206,708 (GRCm39)	L110P	probably damaging	Het
4930522L14Rik	A	T	5: 109,884,785 (GRCm39)	C358S	probably damaging	Het
Abca8b	C	A	11: 109,870,841 (GRCm39)	V104F	possibly damaging	Het
Afap1l2	T	C	19: 56,905,551 (GRCm39)		probably benign	Het
Ahctf1	A	C	1: 179,611,726 (GRCm39)	I548R	probably damaging	Het
Alox12b	G	T	11: 69,060,382 (GRCm39)	G646V	probably damaging	Het
Aoah	C	T	13: 21,095,368 (GRCm39)		probably benign	Het
Arhgap39	C	T	15: 76,619,086 (GRCm39)	D833N	probably damaging	Het
Atxn1l	A	G	8: 110,458,325 (GRCm39)	W646R	probably damaging	Het
Cabp2	T	C	19: 4,134,903 (GRCm39)	I28T	possibly damaging	Het
Cacna1b	G	A	2: 24,577,716 (GRCm39)	T719I	probably damaging	Het
Camk1d	A	T	2: 5,449,946 (GRCm39)	H70Q	probably damaging	Het
Car1	T	C	3: 14,835,236 (GRCm39)	T170A	probably benign	Het
Ccdc162	T	C	10: 41,417,856 (GRCm39)	T2113A	probably benign	Het
Cdc5l	G	A	17: 45,726,610 (GRCm39)	R321W	probably damaging	Het
Cdh17	T	A	4: 11,771,273 (GRCm39)	C18*	probably null	Het
Cdk17	A	T	10: 93,073,652 (GRCm39)		probably benign	Het
Chd9	T	A	8: 91,721,078 (GRCm39)		probably benign	Het
Chrm5	T	A	2: 112,310,000 (GRCm39)	K372M	possibly damaging	Het
Clasp2	A	G	9: 113,738,487 (GRCm39)	T423A	probably benign	Het
Col11a1	A	G	3: 113,999,550 (GRCm39)		probably benign	Het
Col27a1	T	C	4: 63,143,848 (GRCm39)	M512T	possibly damaging	Het
Dclk3	A	G	9: 111,314,003 (GRCm39)	D693G	probably damaging	Het
Dcun1d3	T	A	7: 119,457,173 (GRCm39)	K180*	probably null	Het
Dmxl2	T	C	9: 54,324,235 (GRCm39)	R876G	probably benign	Het
Dnmbp	A	T	19: 43,843,296 (GRCm39)	Y432*	probably null	Het
Elapor2	G	T	5: 9,490,966 (GRCm39)	G659*	probably null	Het
Eml2	C	T	7: 18,913,456 (GRCm39)	Q125*	probably null	Het
Faap100	A	C	11: 120,264,702 (GRCm39)		probably benign	Het
Foxp2	T	C	6: 15,254,278 (GRCm39)		probably benign	Het
Gda	A	G	19: 21,394,471 (GRCm39)	Y129H	probably damaging	Het
Gga3	G	A	11: 115,481,350 (GRCm39)	R207C	probably damaging	Het
Glg1	T	C	8: 111,909,201 (GRCm39)	I496M	probably damaging	Het
Glt6d1	C	A	2: 25,684,739 (GRCm39)		probably null	Het
Gm10322	A	T	10: 59,452,030 (GRCm39)	H49L	possibly damaging	Het
Golga5	G	T	12: 102,442,467 (GRCm39)	V269F	possibly damaging	Het
Gramd2b	G	A	18: 56,607,141 (GRCm39)	C85Y	probably benign	Het
Grhl1	C	T	12: 24,632,918 (GRCm39)	P153L	probably benign	Het
Hdac9	T	C	12: 34,487,221 (GRCm39)	Q60R	probably damaging	Het
Hdlbp	T	C	1: 93,353,054 (GRCm39)	I414V	probably damaging	Het
Itpk1	C	T	12: 102,572,337 (GRCm39)		probably benign	Het
Itsn1	T	A	16: 91,612,408 (GRCm39)	Y266N	probably damaging	Het
Lrrc8a	A	G	2: 30,147,079 (GRCm39)	E631G	probably damaging	Het
Lvrn	T	A	18: 47,038,366 (GRCm39)	N973K	possibly damaging	Het
Man2c1	T	A	9: 57,042,881 (GRCm39)	H250Q	probably damaging	Het
Mup3	T	C	4: 62,003,519 (GRCm39)	T117A	probably benign	Het
Myo6	A	C	9: 80,181,256 (GRCm39)		probably benign	Het
Nbn	T	A	4: 15,983,951 (GRCm39)		probably benign	Het
Ncapg	T	A	5: 45,829,770 (GRCm39)	N157K	probably damaging	Het
Or4p7	C	T	2: 88,222,377 (GRCm39)	T262I	probably damaging	Het
Or5an1	T	A	19: 12,261,267 (GRCm39)	M285K	probably damaging	Het
Or5m12	T	A	2: 85,734,501 (GRCm39)	N299I	probably damaging	Het
Or5w14	G	A	2: 87,541,774 (GRCm39)	H159Y	probably benign	Het
Or9m1	T	C	2: 87,733,304 (GRCm39)	T239A	probably damaging	Het
P4ha1	T	A	10: 59,184,079 (GRCm39)	Y180*	probably null	Het
Pcdhb19	T	A	18: 37,632,588 (GRCm39)	F794L	probably benign	Het
Pdxdc1	T	A	16: 13,672,264 (GRCm39)	I379F	probably damaging	Het
Psme3	T	A	11: 101,211,268 (GRCm39)	S185T	possibly damaging	Het
Ptgr1	A	G	4: 58,978,045 (GRCm39)	S116P	probably damaging	Het
Ptpn23	A	T	9: 110,218,078 (GRCm39)		probably null	Het
Rabgap1l	A	C	1: 160,549,775 (GRCm39)	I277R	probably benign	Het
Rapgef1	C	T	2: 29,569,828 (GRCm39)	T93I	possibly damaging	Het
Rbp3	A	T	14: 33,676,730 (GRCm39)	D226V	probably damaging	Het
Rnf144a	A	T	12: 26,389,328 (GRCm39)	C38S	probably damaging	Het
Rptor	C	T	11: 119,671,379 (GRCm39)	Q281*	probably null	Het
Rragd	T	C	4: 33,004,332 (GRCm39)	L208S	probably damaging	Het
Slc12a4	T	C	8: 106,686,120 (GRCm39)	E41G	probably damaging	Het
Slc16a1	G	T	3: 104,560,735 (GRCm39)	V347F	probably benign	Het
Slit1	G	A	19: 41,731,732 (GRCm39)	T39I	probably damaging	Het
Sra1	T	C	18: 36,810,556 (GRCm39)	N98S	probably benign	Het
Ssx2ip	T	C	3: 146,132,184 (GRCm39)	L215P	probably damaging	Het
Syne2	A	T	12: 75,995,838 (GRCm39)	H2126L	probably damaging	Het
Tep1	TTTCTTCTTCTT	TTTCTTCTT	14: 51,104,280 (GRCm39)		probably benign	Het
Tgfbi	T	C	13: 56,780,004 (GRCm39)		probably benign	Het
Tmem232	T	C	17: 65,563,498 (GRCm39)	M632V	probably damaging	Het
Tmem81	C	G	1: 132,435,567 (GRCm39)	I124M	probably damaging	Het
Tnnt3	T	G	7: 142,065,823 (GRCm39)	D153E	probably benign	Het
Tnrc6b	T	A	15: 80,807,647 (GRCm39)		probably benign	Het
Tpsab1	A	G	17: 25,562,798 (GRCm39)		probably benign	Het
Usp34	T	A	11: 23,351,505 (GRCm39)	V1431D	probably damaging	Het
Wdr49	G	T	3: 75,357,329 (GRCm39)	R285S	possibly damaging	Het
Wdr7	A	G	18: 63,929,320 (GRCm39)	Y1052C	probably damaging	Het
Zan	A	T	5: 137,380,578 (GRCm39)		probably benign	Het
Zfp652	G	A	11: 95,654,565 (GRCm39)	V323I	possibly damaging	Het
Zfp740	A	G	15: 102,121,094 (GRCm39)	T136A	possibly damaging	Het
Zfp82	C	T	7: 29,755,754 (GRCm39)	E443K	probably damaging	Het
Zfp874b	A	G	13: 67,629,955 (GRCm39)	S10P	probably damaging	Het
Zmynd19	A	G	2: 24,848,134 (GRCm39)	Y110C	probably benign	Het

Other mutations in Lipe

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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'- AGATGGCTTCCTGTTGATCCAAGTG -3'
(R):5'- GTGGGGACCAGCAGTGATAAACTC -3'

Sequencing Primer
(F):5'- ATTTCTGAAGCAGAGCGGATTG -3'
(R):5'- GCAGTGATAAACTCACAGATCAG -3'

Posted On

2013-05-23