Mutagenetix > Incidental Mutation

Incidental Mutation 'R4816:Lipe'

426173

Institutional Source

Beutler Lab

Gene Symbol

Lipe

Ensembl Gene

ENSMUSG00000003123

Gene Name

lipase, hormone sensitive

Synonyms

HSL, 4933403G17Rik

MMRRC Submission

042434-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4816 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

25078952-25097911 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 25079568 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 1013 (S1013P)

Ref Sequence

ENSEMBL: ENSMUSP00000123485 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003207] [ENSMUST00000054301] [ENSMUST00000149349] [ENSMUST00000205923] [ENSMUST00000206861]

AlphaFold

P54310

Predicted Effect

probably damaging
Transcript: ENSMUST00000003207
AA Change: S743P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000003207
Gene: ENSMUSG00000003123
AA Change: S743P

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 damaging
Transcript: ENSMUST00000054301
AA Change: S700P

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000050935
Gene: ENSMUSG00000003123
AA Change: S700P

Domain	Start	End	E-Value	Type
Pfam:HSL_N	1	315	1.4e-148	PFAM
Pfam:DUF2424	302	461	1.5e-8	PFAM
Pfam:Abhydrolase_3	345	505	5.2e-36	PFAM
low complexity region	568	583	N/A	INTRINSIC
Pfam:Abhydrolase_3	641	728	1.1e-12	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000066316

Predicted Effect

probably damaging
Transcript: ENSMUST00000149349
AA Change: S1013P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000123485
Gene: ENSMUSG00000003123
AA Change: S1013P

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

noncoding transcript
Transcript: ENSMUST00000205787

Predicted Effect

probably benign
Transcript: ENSMUST00000205923

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206436

Predicted Effect

probably damaging
Transcript: ENSMUST00000206861
AA Change: S700P

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206588

Meta Mutation Damage Score

0.4940

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.0%

Validation Efficiency

97% (113/116)

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: 107 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc8	C	A	7: 45,754,131 (GRCm39)	A1562S	probably benign	Het
Adam30	C	A	3: 98,070,061 (GRCm39)	D631E	possibly damaging	Het
Adgrv1	T	C	13: 81,676,793 (GRCm39)	T2013A	probably damaging	Het
Ark2n	A	T	18: 77,740,995 (GRCm39)		probably null	Het
Baiap3	T	A	17: 25,466,269 (GRCm39)		probably benign	Het
Bicra	T	C	7: 15,722,831 (GRCm39)	T229A	possibly damaging	Het
C1qbp	A	G	11: 70,873,190 (GRCm39)		probably benign	Het
C2cd3	C	A	7: 100,040,226 (GRCm39)	T265K	probably benign	Het
Cacna1s	T	A	1: 136,043,007 (GRCm39)	I1331K	possibly damaging	Het
Cdadc1	AGACGGA	AGA	14: 59,806,440 (GRCm39)		probably null	Het
Cdcp2	A	G	4: 106,963,969 (GRCm39)	Y273C	probably damaging	Het
Cdh23	A	C	10: 60,244,856 (GRCm39)	V1013G	possibly damaging	Het
Celf3	T	A	3: 94,386,529 (GRCm39)	I39N	probably damaging	Het
Cep152	A	C	2: 125,405,674 (GRCm39)	S1619R	probably damaging	Het
Cfap36	A	G	11: 29,195,108 (GRCm39)	I42T	probably damaging	Het
Cfap61	G	T	2: 145,985,020 (GRCm39)	V955L	probably damaging	Het
Cit	G	A	5: 116,046,750 (GRCm39)	D388N	probably damaging	Het
Clca3a2	T	C	3: 144,516,613 (GRCm39)	M328V	probably benign	Het
Cntn4	A	T	6: 106,527,458 (GRCm39)	I447L	probably benign	Het
Csmd3	T	C	15: 47,721,330 (GRCm39)	T1538A	possibly damaging	Het
Cstf1	A	G	2: 172,214,905 (GRCm39)	K9E	probably damaging	Het
Dip2c	T	A	13: 9,625,186 (GRCm39)	M560K	probably benign	Het
Dsg1a	A	T	18: 20,466,779 (GRCm39)	T550S	probably benign	Het
Dtnb	A	G	12: 3,799,505 (GRCm39)	E460G	probably damaging	Het
Dus1l	GAGGTAAG	GAG	11: 120,680,584 (GRCm39)		probably benign	Het
Efl1	T	A	7: 82,320,927 (GRCm39)	V120E	probably damaging	Het
Fbxl13	T	C	5: 21,689,001 (GRCm39)	Y769C	probably benign	Het
Fcho2	T	C	13: 98,942,874 (GRCm39)	Y22C	probably damaging	Het
Flacc1	G	A	1: 58,709,567 (GRCm39)	A196V	probably benign	Het
Gbp3	T	C	3: 142,273,335 (GRCm39)	V294A	probably damaging	Het
Gls	A	G	1: 52,239,104 (GRCm39)		probably benign	Het
Gm15130	A	T	2: 110,965,714 (GRCm39)		probably benign	Het
Gm6185	A	T	1: 161,040,728 (GRCm39)		noncoding transcript	Het
Gpr171	T	A	3: 59,005,517 (GRCm39)	H86L	probably damaging	Het
Gpr179	T	C	11: 97,230,074 (GRCm39)	T694A	probably damaging	Het
H2-Aa	A	T	17: 34,502,794 (GRCm39)	V124E	probably damaging	Het
H2bc13	A	G	13: 21,900,135 (GRCm39)	M60T	probably benign	Het
H2-M5	A	G	17: 37,300,309 (GRCm39)		probably benign	Het
Igf2r	A	T	17: 12,902,984 (GRCm39)	N2355K	probably damaging	Het
Il9r	A	C	11: 32,142,654 (GRCm39)	S295A	possibly damaging	Het
Ipo9	T	C	1: 135,334,288 (GRCm39)	T313A	probably benign	Het
Kalrn	C	T	16: 34,334,389 (GRCm39)		probably benign	Het
Lama3	G	A	18: 12,610,661 (GRCm39)	V1175M	possibly damaging	Het
Lhpp	T	A	7: 132,272,104 (GRCm39)	C242*	probably null	Het
Lrrc25	C	T	8: 71,070,726 (GRCm39)	T169I	probably benign	Het
Lrrc39	T	C	3: 116,362,515 (GRCm39)		probably null	Het
Lrrd1	T	A	5: 3,901,126 (GRCm39)	L477*	probably null	Het
Lrriq4	A	G	3: 30,714,196 (GRCm39)	I515V	possibly damaging	Het
Magel2	A	G	7: 62,030,840 (GRCm39)	Y1248C	unknown	Het
Maml1	G	T	11: 50,149,162 (GRCm39)	N859K	possibly damaging	Het
Mdm1	A	T	10: 117,982,782 (GRCm39)	H139L	possibly damaging	Het
Mef2d	C	T	3: 88,075,397 (GRCm39)	P420S	possibly damaging	Het
Mgat4b	A	G	11: 50,101,848 (GRCm39)	K38E	probably benign	Het
Mtmr4	T	C	11: 87,494,923 (GRCm39)	V405A	probably damaging	Het
Naip5	G	A	13: 100,356,195 (GRCm39)	T1140M	probably benign	Het
Naip5	T	C	13: 100,356,204 (GRCm39)	Q1137R	probably benign	Het
Naip5	G	A	13: 100,356,189 (GRCm39)	S1142F	probably benign	Het
Nfe2l3	T	C	6: 51,433,604 (GRCm39)	S239P	probably damaging	Het
Nlrp3	A	G	11: 59,439,127 (GRCm39)	I235V	probably benign	Het
Nyap2	T	A	1: 81,219,028 (GRCm39)	L318Q	probably damaging	Het
Nynrin	G	A	14: 56,109,458 (GRCm39)	V1522M	probably damaging	Het
Oog3	A	G	4: 143,885,731 (GRCm39)	L289P	probably damaging	Het
Or52n20	C	T	7: 104,319,942 (GRCm39)	P11L	probably benign	Het
Or5b107	A	G	19: 13,142,488 (GRCm39)	I37V	probably benign	Het
Or6c69b	T	C	10: 129,627,308 (GRCm39)	D50G	probably damaging	Het
Or8b12b	T	A	9: 37,684,726 (GRCm39)	M257K	possibly damaging	Het
Or9g20	A	T	2: 85,630,391 (GRCm39)	N74K	probably benign	Het
Pax6	T	C	2: 105,514,129 (GRCm39)		probably benign	Het
Pbrm1	G	A	14: 30,832,405 (GRCm39)	R1441K	probably benign	Het
Pcdha9	C	T	18: 37,132,511 (GRCm39)	R527W	probably damaging	Het
Pcdhb17	T	C	18: 37,620,450 (GRCm39)	S747P	probably benign	Het
Pcnx3	A	C	19: 5,738,023 (GRCm39)		probably null	Het
Pds5a	A	T	5: 65,808,632 (GRCm39)	V413E	probably damaging	Het
Phpt1	G	T	2: 25,464,332 (GRCm39)		probably benign	Het
Phykpl	A	G	11: 51,483,780 (GRCm39)	E220G	probably benign	Het
Pias2	T	C	18: 77,193,587 (GRCm39)		probably null	Het
Pkhd1	T	A	1: 20,269,639 (GRCm39)	I3302L	probably damaging	Het
Poli	A	G	18: 70,655,822 (GRCm39)	L241P	probably damaging	Het
Ppm1h	T	A	10: 122,515,284 (GRCm39)	I65N	possibly damaging	Het
Ptpn14	T	C	1: 189,588,997 (GRCm39)	L954P	probably damaging	Het
Pxk	T	G	14: 8,136,893 (GRCm38)	M138R	probably damaging	Het
Rasl11b	G	T	5: 74,359,058 (GRCm39)	D188Y	probably damaging	Het
Rtraf	A	G	14: 19,872,644 (GRCm39)	F59S	probably benign	Het
Sanbr	A	C	11: 23,565,243 (GRCm39)	I248S	possibly damaging	Het
Serpinb5	G	T	1: 106,800,069 (GRCm39)	L86F	probably damaging	Het
Setdb2	G	A	14: 59,651,095 (GRCm39)	T412I	probably benign	Het
Shank2	C	A	7: 143,606,043 (GRCm39)	N75K	probably damaging	Het
Shank3	T	A	15: 89,427,318 (GRCm39)	I791N	probably damaging	Het
Slc25a13	T	A	6: 6,114,274 (GRCm39)	M213L	possibly damaging	Het
Slc25a21	T	C	12: 56,760,623 (GRCm39)	Y298C	probably damaging	Het
Slc34a2	A	G	5: 53,226,362 (GRCm39)	N495S	probably damaging	Het
Smc2	A	G	4: 52,451,231 (GRCm39)	T292A	probably benign	Het
Spag9	T	C	11: 93,939,425 (GRCm39)		probably benign	Het
Tas2r113	C	T	6: 132,870,745 (GRCm39)	P258S	probably benign	Het
Tbkbp1	T	C	11: 97,029,567 (GRCm39)	S530G	probably benign	Het
Tenm2	A	G	11: 35,918,117 (GRCm39)	V1881A	probably damaging	Het
Tm9sf1	C	T	14: 55,878,606 (GRCm39)	R262Q	possibly damaging	Het
Tmcc3	G	T	10: 94,414,646 (GRCm39)	G147V	possibly damaging	Het
Trim38	A	T	13: 23,972,264 (GRCm39)	E195V	probably damaging	Het
Try5	T	C	6: 41,290,349 (GRCm39)	Y45C	probably benign	Het
Umad1	A	C	6: 8,457,462 (GRCm39)		probably benign	Het
Vmn2r105	T	C	17: 20,428,953 (GRCm39)	I708V	probably benign	Het
Zc3h12d	A	T	10: 7,743,711 (GRCm39)	S494C	probably damaging	Het
Zeb2	A	G	2: 44,887,780 (GRCm39)	S382P	probably damaging	Het
Zfc3h1	A	G	10: 115,251,599 (GRCm39)	S1304G	probably benign	Het
Zfp287	G	T	11: 62,605,074 (GRCm39)	T611K	probably damaging	Het
Zfp534	G	A	4: 147,758,743 (GRCm39)	T642I	possibly damaging	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
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
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'- AGAGGTCTTTTAGTGCCGCC -3'
(R):5'- GGATTAAGTTAACCACCGCCTC -3'

Sequencing Primer
(F):5'- CTCAGTTCAGTGGTGCAGCAG -3'
(R):5'- ACCGTGTTCTCTGCCCAC -3'

Posted On

2016-08-16