Mutagenetix > Incidental Mutation

Incidental Mutation 'R7250:Lipe'

563830

Institutional Source

Beutler Lab

Gene Symbol

Lipe

Ensembl Gene

ENSMUSG00000003123

Gene Name

lipase, hormone sensitive

Synonyms

HSL, 4933403G17Rik

MMRRC Submission

045350-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7250 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

25078952-25097911 bp(-) (GRCm39)

Type of Mutation

start gained

DNA Base Change (assembly)

G to C at 25088085 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000145665 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003207] [ENSMUST00000054301] [ENSMUST00000149349] [ENSMUST00000205698] [ENSMUST00000205923] [ENSMUST00000206861]

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: ENSMUST00000054301

SMART Domains

Protein: ENSMUSP00000050935
Gene: ENSMUSG00000003123

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

probably benign
Transcript: ENSMUST00000149349

SMART Domains

Protein: ENSMUSP00000123485
Gene: ENSMUSG00000003123

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: ENSMUST00000205698

Predicted Effect

probably benign
Transcript: ENSMUST00000205923

Predicted Effect

probably benign
Transcript: ENSMUST00000206861

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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: 102 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930480E11Rik	G	T	X: 77,414,311 (GRCm39)	M345I	probably benign	Het
Actl7b	T	A	4: 56,741,035 (GRCm39)	M108L	probably benign	Het
Adgrf3	T	A	5: 30,400,680 (GRCm39)	I934L	probably damaging	Het
Adprm	A	G	11: 66,932,450 (GRCm39)	V153A	probably benign	Het
Aif1l	G	A	2: 31,859,764 (GRCm39)	V109M	probably damaging	Het
Asphd1	T	A	7: 126,545,942 (GRCm39)	E307V	probably damaging	Het
Ate1	T	A	7: 130,121,701 (GRCm39)		probably benign	Het
Borcs7	A	G	19: 46,688,047 (GRCm39)	H64R	probably damaging	Het
C1qtnf1	A	G	11: 118,339,176 (GRCm39)	*282W	probably null	Het
Cacna1c	A	G	6: 118,574,966 (GRCm39)	C1985R		Het
Cacna1c	A	T	6: 118,673,412 (GRCm39)	V647E		Het
Cacna1d	A	G	14: 29,797,108 (GRCm39)	S1497P	probably damaging	Het
Cacna1e	T	A	1: 154,576,235 (GRCm39)	I133F	possibly damaging	Het
Ccdc63	A	T	5: 122,260,906 (GRCm39)	L206H	probably damaging	Het
Cenatac	A	G	9: 44,323,748 (GRCm39)		probably null	Het
Cspg4b	T	G	13: 113,455,349 (GRCm39)	I465R		Het
D430041D05Rik	T	C	2: 104,086,961 (GRCm39)	T672A	possibly damaging	Het
D630045J12Rik	G	T	6: 38,119,546 (GRCm39)	T1732K	possibly damaging	Het
D930020B18Rik	T	C	10: 121,507,736 (GRCm39)	I158T	probably damaging	Het
Ddx52	G	A	11: 83,835,392 (GRCm39)	G106D	probably benign	Het
Dock2	A	G	11: 34,586,032 (GRCm39)	V550A	probably benign	Het
Dock2	C	T	11: 34,586,120 (GRCm39)	D521N	probably damaging	Het
F13b	T	C	1: 139,444,227 (GRCm39)		probably null	Het
Fchsd2	A	G	7: 100,908,892 (GRCm39)	K431R	possibly damaging	Het
Fez1	C	T	9: 36,779,090 (GRCm39)	R256C	probably damaging	Het
Gjd4	T	A	18: 9,280,391 (GRCm39)	Q229L	probably benign	Het
Gpr45	T	A	1: 43,071,531 (GRCm39)	I58N	probably damaging	Het
Gstm1	T	A	3: 107,923,709 (GRCm39)	I99F	probably damaging	Het
Gtpbp8	T	A	16: 44,564,225 (GRCm39)	T149S	probably damaging	Het
H2-Ab1	A	G	17: 34,486,481 (GRCm39)	D180G	probably damaging	Het
Hdhd5	A	G	6: 120,494,016 (GRCm39)	I188T	possibly damaging	Het
Hfm1	T	C	5: 107,052,197 (GRCm39)	I300V	probably benign	Het
Hnrnpr	T	G	4: 136,059,746 (GRCm39)	D283E	probably benign	Het
Hsp90b1	T	C	10: 86,527,572 (GRCm39)	E768G	unknown	Het
Kcna4	C	A	2: 107,126,663 (GRCm39)	Q466K	possibly damaging	Het
Kcnk6	A	G	7: 28,931,619 (GRCm39)	L97P	probably benign	Het
Kics2	T	C	10: 121,581,376 (GRCm39)	S126P	possibly damaging	Het
Klf5	A	G	14: 99,536,455 (GRCm39)	S9G	probably benign	Het
Kmt2c	C	A	5: 25,504,489 (GRCm39)	K3606N	probably damaging	Het
Kmt2c	T	C	5: 25,514,805 (GRCm39)	T3013A	probably benign	Het
Lancl1	A	G	1: 67,048,458 (GRCm39)	Y207H	possibly damaging	Het
Lrrc66	T	A	5: 73,768,224 (GRCm39)	H239L	probably benign	Het
Ltbp2	C	T	12: 84,834,166 (GRCm39)	W1441*	probably null	Het
Man2a1	T	C	17: 64,943,583 (GRCm39)	S213P	probably benign	Het
Mapre2	C	T	18: 23,991,119 (GRCm39)	A171V	possibly damaging	Het
Mdn1	T	A	4: 32,695,427 (GRCm39)	D1155E	probably damaging	Het
Mki67	T	C	7: 135,301,053 (GRCm39)	D1327G	possibly damaging	Het
Mx2	T	C	16: 97,348,664 (GRCm39)	I279T	probably damaging	Het
Myo5c	A	G	9: 75,169,497 (GRCm39)	T441A	probably damaging	Het
Nlrp9a	T	G	7: 26,258,143 (GRCm39)	V587G	possibly damaging	Het
Npas2	A	T	1: 39,377,188 (GRCm39)	T517S	probably damaging	Het
Npy1r	T	C	8: 67,157,712 (GRCm39)	S341P	probably benign	Het
Ntm	A	G	9: 29,322,988 (GRCm39)	W11R	probably benign	Het
Nxpe2	A	T	9: 48,238,096 (GRCm39)	I53N	possibly damaging	Het
Onecut2	T	C	18: 64,519,511 (GRCm39)	F443L	probably benign	Het
Or10g6	T	A	9: 39,934,050 (GRCm39)	Y120*	probably null	Het
Or2r2	A	G	6: 42,463,689 (GRCm39)	V146A	probably benign	Het
Or52ac1	A	T	7: 104,245,738 (GRCm39)	Y217N	probably damaging	Het
Parp2	T	A	14: 51,054,801 (GRCm39)	V248E	probably benign	Het
Pcdh12	C	A	18: 38,415,029 (GRCm39)	V699L	probably benign	Het
Pja2	G	A	17: 64,616,451 (GRCm39)	P148L	probably benign	Het
Poglut3	C	T	9: 53,301,821 (GRCm39)	Q158*	probably null	Het
Ppip5k2	T	G	1: 97,673,187 (GRCm39)	D415A	probably benign	Het
Prss47	A	G	13: 65,200,355 (GRCm39)	S74P	probably benign	Het
Ptprg	G	T	14: 12,166,767 (GRCm38)	M723I	probably benign	Het
Qsox2	A	T	2: 26,118,444 (GRCm39)	I109N	probably damaging	Het
Ranbp3l	A	G	15: 9,041,853 (GRCm39)	E217G	probably benign	Het
Rgl2	C	T	17: 34,152,403 (GRCm39)	R367W	probably damaging	Het
Rgs12	T	A	5: 35,122,841 (GRCm39)	F208Y	probably damaging	Het
Rin3	C	T	12: 102,334,893 (GRCm39)	T268I	unknown	Het
Rttn	T	A	18: 89,007,647 (GRCm39)	D427E	probably benign	Het
Samd13	G	A	3: 146,352,079 (GRCm39)	P91S	probably benign	Het
Samd9l	T	C	6: 3,374,201 (GRCm39)	D1020G	possibly damaging	Het
Sec62	T	G	3: 30,866,496 (GRCm39)	L201V	possibly damaging	Het
Setdb1	C	T	3: 95,261,852 (GRCm39)		probably null	Het
Sf3a3	A	T	4: 124,616,708 (GRCm39)	T197S	probably benign	Het
Slc20a1	A	T	2: 129,051,844 (GRCm39)	I618F	possibly damaging	Het
Slc38a3	A	T	9: 107,533,865 (GRCm39)	M186K	probably benign	Het
Slc39a13	T	C	2: 90,893,503 (GRCm39)	T319A	probably benign	Het
Slc44a4	T	C	17: 35,137,520 (GRCm39)		probably null	Het
St3gal1	A	C	15: 66,978,578 (GRCm39)	D314E	possibly damaging	Het
Suclg1	A	G	6: 73,248,074 (GRCm39)	N265S	probably benign	Het
Sult2b1	A	T	7: 45,433,361 (GRCm39)	V2D	unknown	Het
Supv3l1	T	A	10: 62,280,846 (GRCm39)	I182F	probably damaging	Het
Tcp11l2	T	C	10: 84,423,105 (GRCm39)		probably null	Het
Tenm2	C	A	11: 35,963,625 (GRCm39)	L935F	probably damaging	Het
Tnks	T	A	8: 35,318,912 (GRCm39)	I790F	probably damaging	Het
Top2b	C	T	14: 16,420,411 (GRCm38)	T1274I	probably benign	Het
Tpi1	A	T	6: 124,789,441 (GRCm39)	I178N	probably damaging	Het
Trav9d-1	A	T	14: 53,030,153 (GRCm39)	S86C	probably damaging	Het
Treml2	A	G	17: 48,616,155 (GRCm39)	E265G	probably benign	Het
Trpm7	A	T	2: 126,668,685 (GRCm39)	S744T	possibly damaging	Het
Usp33	T	A	3: 152,097,999 (GRCm39)	L909*	probably null	Het
Vcan	A	G	13: 89,869,805 (GRCm39)	I210T	probably damaging	Het
Vcan	A	T	13: 89,879,576 (GRCm39)		probably null	Het
Vsig10l	A	T	7: 43,113,099 (GRCm39)	D17V	probably benign	Het
Zbtb7b	T	A	3: 89,286,976 (GRCm39)	T498S	probably benign	Het
Zfp366	T	A	13: 99,366,076 (GRCm39)	H412Q	probably damaging	Het
Zfp53	C	A	17: 21,729,840 (GRCm39)	D624E	probably damaging	Het
Zfp827	A	T	8: 79,916,721 (GRCm39)	D432V		Het
Zic1	T	C	9: 91,247,028 (GRCm39)	T15A	probably damaging	Het
Zswim8	T	C	14: 20,770,036 (GRCm39)	C1368R	probably 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
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
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'- GTCCAGGTCAAAATGGTGTGC -3'
(R):5'- AAGATAATGGAAGGCCCCTGC -3'

Sequencing Primer
(F):5'- CCAACAGTTGGCCTAGGGTTG -3'
(R):5'- CTGCGTCTCCAGGAGGATTG -3'

Posted On

2019-06-26