Mutagenetix > Incidental Mutations

Incidental Mutation 'R3112:Lipe'

477861

Institutional Source

Beutler Lab

Gene Symbol

Lipe

Ensembl Gene

ENSMUSG00000003123

Gene Name

lipase, hormone sensitive

Synonyms

4933403G17Rik, HSL

MMRRC Submission

040585-MU

Accession Numbers

Genbank: NM_010719, NM_001039507; MGI: 96790

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3112 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

25379527-25398710 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 25398423 bp (GRCm38)

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

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: T32A

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

SMART Domains

Protein: ENSMUSP00000100811
Gene: ENSMUSG00000003123
AA Change: T32A

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: T32A

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

SMART Domains

Protein: ENSMUSP00000123485
Gene: ENSMUSG00000003123
AA Change: T32A

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: 98.5%
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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930430A15Rik	T	G	2: 111,228,054	L131F	probably damaging	Het
Abca6	T	A	11: 110,178,829	K1554*	probably null	Het
Acads	T	C	5: 115,117,698	H26R	probably benign	Het
Acer1	G	A	17: 56,958,406	T141I	probably damaging	Het
Adam15	C	G	3: 89,347,457	V99L	probably benign	Het
Ankrd13b	A	G	11: 77,477,505	V97A	possibly damaging	Het
Anpep	T	C	7: 79,841,972	T94A	probably benign	Het
Atp1a3	T	C	7: 24,994,694	N345S	probably damaging	Het
Btn1a1	T	A	13: 23,461,551	N216I	possibly damaging	Het
Cacna1s	G	A	1: 136,075,093	W62*	probably null	Het
Ccdc141	C	T	2: 77,039,486	V892I	probably benign	Het
Ccdc180	T	A	4: 45,900,470	I278K	possibly damaging	Het
Cdc7	T	G	5: 106,974,698		probably null	Het
Cpb1	C	T	3: 20,265,357	V188M	probably damaging	Het
Dock5	A	G	14: 67,857,922	I101T	possibly damaging	Het
Dqx1	T	C	6: 83,058,972	V95A	probably damaging	Het
Dvl1	T	A	4: 155,853,666	D90E	probably damaging	Het
Fam135b	T	C	15: 71,464,030	I438M	probably benign	Het
Fam57a	A	G	11: 76,202,231	D33G	probably benign	Het
Fpr1	A	T	17: 17,876,635	M364K	probably benign	Het
Gm14139	C	G	2: 150,192,221	P185R	probably damaging	Het
Gm7030	T	C	17: 36,129,146	Y32C	probably damaging	Het
Gpat4	G	A	8: 23,180,155	P286L	probably damaging	Het
Gpx7	C	A	4: 108,403,273	V109F	probably damaging	Het
Grhl2	T	C	15: 37,336,347		probably null	Het
Grn	A	G	11: 102,433,243	T53A	probably benign	Het
Hist1h1e	T	C	13: 23,621,846		probably benign	Het
Hmgxb3	T	C	18: 61,147,382	N683S	probably damaging	Het
Iigp1	T	C	18: 60,390,911	I367T	probably benign	Het
Itfg2	T	C	6: 128,411,669	E285G	probably damaging	Het
Itgav	T	A	2: 83,792,571	C662*	probably null	Het
Jarid2	T	A	13: 44,906,276	N661K	probably damaging	Het
Lrrk2	A	G	15: 91,814,695	Y2475C	probably benign	Het
Mcc	T	C	18: 44,449,263	D607G	probably damaging	Het
Mip	T	A	10: 128,226,006	L42*	probably null	Het
Mlc1	A	T	15: 88,965,996	D192E	probably benign	Het
Muc2	T	C	7: 141,745,488		probably benign	Het
Mybl1	T	C	1: 9,681,870	D260G	probably damaging	Het
Ncln	C	T	10: 81,487,685	V51I	probably benign	Het
Nlrp9a	T	C	7: 26,557,872	V305A	probably benign	Het
Nodal	G	A	10: 61,424,497	R309Q	possibly damaging	Het
Olfr1338	A	T	4: 118,754,224	F105I	probably damaging	Het
Olfr294	T	C	7: 86,615,676	Y323C	probably benign	Het
Olfr536	A	G	7: 140,503,919	I180T	probably damaging	Het
Olr1	T	C	6: 129,499,918	N128S	possibly damaging	Het
Orc1	T	A	4: 108,604,560	C585S	probably benign	Het
Pcmtd2	A	T	2: 181,855,129	I300F	probably damaging	Het
Pfkfb4	C	T	9: 109,025,042		probably benign	Het
Phactr3	T	A	2: 178,279,017	L180Q	possibly damaging	Het
Pigo	T	C	4: 43,021,083	T612A	probably benign	Het
Plch1	T	A	3: 63,709,531	D766V	probably damaging	Het
Plekhh3	T	C	11: 101,164,147		probably benign	Het
Ppp1r12b	T	A	1: 134,872,832	T547S	probably damaging	Het
Prkcb	T	A	7: 122,516,856	M186K	probably damaging	Het
Prpf3	A	T	3: 95,849,800		probably benign	Het
Psg23	T	C	7: 18,610,444	D362G	possibly damaging	Het
Reg3a	T	C	6: 78,381,131	L15P	probably damaging	Het
Scrib	A	T	15: 76,069,374	I5N	probably damaging	Het
Speg	C	T	1: 75,422,682	Q2005*	probably null	Het
Sppl3	A	T	5: 115,074,864	S51C	possibly damaging	Het
Sspo	A	G	6: 48,457,600	T1009A	probably damaging	Het
Syce1l	A	G	8: 113,654,947	Q164R	probably benign	Het
Sympk	T	C	7: 19,034,484	V126A	possibly damaging	Het
Tas2r110	T	A	6: 132,868,024	I6K	unknown	Het
Tas2r120	A	T	6: 132,657,768	H271L	probably damaging	Het
Tnn	T	A	1: 160,116,286	T986S	possibly damaging	Het
Trim5	T	C	7: 104,279,638	H32R	probably damaging	Het
Ttc13	A	G	8: 124,683,834	I360T	possibly damaging	Het
Uaca	A	G	9: 60,871,499	E1054G	probably damaging	Het
Usp16	T	A	16: 87,471,848		probably null	Het
Wee1	T	A	7: 110,130,836	S382R	probably damaging	Het
Wnt11	T	C	7: 98,846,564	S92P	probably damaging	Het
Zfp786	A	G	6: 47,820,226	C593R	probably damaging	Het
Zfp879	T	G	11: 50,833,162	I283L	possibly damaging	Het

Other mutations in Lipe

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00094:Lipe	APN	7	25383552	missense	probably damaging	1.00
IGL00517:Lipe	APN	7	25388560	splice site	probably null
IGL00817:Lipe	APN	7	25388449	missense	probably damaging	1.00
IGL01459:Lipe	APN	7	25383542	missense	probably damaging	1.00
IGL01946:Lipe	APN	7	25383276	missense	possibly damaging	0.90
IGL02931:Lipe	APN	7	25383335	splice site	probably benign
IGL02973:Lipe	APN	7	25383632	missense	probably damaging	0.98
IGL03091:Lipe	APN	7	25380755	missense	probably damaging	1.00
fett	UTSW	7	25388582	missense	probably benign
grassa	UTSW	7	25385325	missense	probably damaging	0.99
reservoir	UTSW	7	25380143	missense	probably damaging	1.00
3-1:Lipe	UTSW	7	25397820	missense	probably damaging	0.97
PIT4243001:Lipe	UTSW	7	25395546	missense	probably benign
R0062:Lipe	UTSW	7	25398449	missense	possibly damaging	0.46
R0062:Lipe	UTSW	7	25398449	missense	possibly damaging	0.46
R0432:Lipe	UTSW	7	25398488	missense	probably benign	0.00
R0528:Lipe	UTSW	7	25398476	missense	possibly damaging	0.92
R0534:Lipe	UTSW	7	25388186	missense	possibly damaging	0.66
R1487:Lipe	UTSW	7	25384815	missense	possibly damaging	0.47
R1502:Lipe	UTSW	7	25398147	missense	possibly damaging	0.66
R1606:Lipe	UTSW	7	25388144	missense	probably damaging	1.00
R1713:Lipe	UTSW	7	25385325	missense	probably damaging	0.99
R2147:Lipe	UTSW	7	25388521	missense	probably benign	0.01
R3031:Lipe	UTSW	7	25384895	missense	possibly damaging	0.65
R3110:Lipe	UTSW	7	25398423	missense	probably benign
R3792:Lipe	UTSW	7	25397620	missense	possibly damaging	0.82
R4453:Lipe	UTSW	7	25397690	missense	probably damaging	0.99
R4582:Lipe	UTSW	7	25397702	missense	probably benign
R4816:Lipe	UTSW	7	25380143	missense	probably damaging	1.00
R5639:Lipe	UTSW	7	25383325	missense	probably benign	0.00
R5653:Lipe	UTSW	7	25398408	missense	probably benign	0.08
R6322:Lipe	UTSW	7	25380536	missense	probably damaging	1.00
R6575:Lipe	UTSW	7	25383324	missense	probably benign	0.03
R7065:Lipe	UTSW	7	25385178	critical splice donor site	probably null
R7250:Lipe	UTSW	7	25388660	start gained	probably benign
R7485:Lipe	UTSW	7	25380611	missense	probably benign	0.01
R7636:Lipe	UTSW	7	25388617	missense	probably benign	0.42
R8447:Lipe	UTSW	7	25380592	missense	probably damaging	1.00
R8754:Lipe	UTSW	7	25388582	missense	probably benign
R9025:Lipe	UTSW	7	25384498	missense	probably damaging	0.99
R9399:Lipe	UTSW	7	25397802	missense	probably benign	0.35

Predicted Primers

Posted On

2017-05-15