Mutagenetix > Incidental Mutation

Incidental Mutation 'R2147:Lipe'

233915

Institutional Source

Beutler Lab

Gene Symbol

Lipe

Ensembl Gene

ENSMUSG00000003123

Gene Name

lipase, hormone sensitive

Synonyms

HSL, 4933403G17Rik

MMRRC Submission

040150-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2147 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

25078952-25097911 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 25087946 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Glutamic Acid at position 38 (A38E)

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
AA Change: A81E

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000003207
Gene: ENSMUSG00000003123
AA Change: A81E

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
AA Change: A38E

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000050935
Gene: ENSMUSG00000003123
AA Change: A38E

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 benign
Transcript: ENSMUST00000149349
AA Change: A351E

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000123485
Gene: ENSMUSG00000003123
AA Change: A351E

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

noncoding transcript
Transcript: ENSMUST00000205787

Predicted Effect

probably benign
Transcript: ENSMUST00000205923

Predicted Effect

probably benign
Transcript: ENSMUST00000206861
AA Change: A38E

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206436

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206588

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.7%

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930523C07Rik	T	A	1: 159,903,003 (GRCm39)	M91K	probably benign	Het
Abr	T	C	11: 76,346,474 (GRCm39)	R437G	probably damaging	Het
Acaca	T	G	11: 84,167,362 (GRCm39)	D1045E	probably benign	Het
Adam23	A	T	1: 63,573,521 (GRCm39)		probably null	Het
Adam34	A	G	8: 44,105,538 (GRCm39)	Y36H	probably benign	Het
Alg11	G	A	8: 22,555,309 (GRCm39)	G108D	probably damaging	Het
Alox12e	A	T	11: 70,210,771 (GRCm39)	I316N	probably damaging	Het
Arid1a	A	T	4: 133,408,677 (GRCm39)	F1943L	unknown	Het
Armh4	T	C	14: 49,989,028 (GRCm39)	D647G	probably benign	Het
Auh	G	A	13: 52,989,532 (GRCm39)	P308L	probably benign	Het
BC035044	T	C	6: 128,867,867 (GRCm39)		probably benign	Het
Bcor	G	A	X: 11,923,862 (GRCm39)	A578V	possibly damaging	Het
C1qtnf12	A	G	4: 156,050,922 (GRCm39)	N297S	probably benign	Het
Cadps2	G	T	6: 23,838,998 (GRCm39)		probably benign	Het
Ccnf	A	T	17: 24,449,288 (GRCm39)		probably null	Het
Cdadc1	A	G	14: 59,835,202 (GRCm39)		probably null	Het
Cep57l1	A	G	10: 41,616,895 (GRCm39)	Y131H	probably damaging	Het
Cfap251	T	C	5: 123,394,254 (GRCm39)	V381A	probably benign	Het
Cfap44	A	G	16: 44,272,047 (GRCm39)	R1267G	probably benign	Het
Chd3	A	T	11: 69,239,854 (GRCm39)	L1658Q	probably benign	Het
Chl1	T	C	6: 103,692,362 (GRCm39)		probably null	Het
Chpf2	T	A	5: 24,797,033 (GRCm39)	F660I	probably damaging	Het
Cmas	T	A	6: 142,717,015 (GRCm39)	D302E	probably benign	Het
Cpne3	T	A	4: 19,536,562 (GRCm39)	M233L	probably benign	Het
Csmd3	CCTTTGCGCTT	CCTT	15: 47,604,632 (GRCm39)		probably null	Het
Dennd3	T	G	15: 73,395,336 (GRCm39)	L143R	probably damaging	Het
Dnah2	T	C	11: 69,406,587 (GRCm39)	M552V	probably benign	Het
Dock2	A	G	11: 34,179,472 (GRCm39)		probably null	Het
Ergic1	A	G	17: 26,855,024 (GRCm39)		probably null	Het
Fbxl15	A	T	19: 46,317,627 (GRCm39)	D103V	probably damaging	Het
Gm4781	C	A	10: 100,232,414 (GRCm39)		noncoding transcript	Het
Hpca	A	G	4: 129,012,278 (GRCm39)	I86T	possibly damaging	Het
Katnip	T	A	7: 125,464,492 (GRCm39)	H1286Q	probably damaging	Het
Lamb3	T	C	1: 193,010,212 (GRCm39)	V275A	probably benign	Het
Lrrk1	A	T	7: 65,935,159 (GRCm39)		probably null	Het
Lrsam1	T	C	2: 32,835,891 (GRCm39)	K292R	probably damaging	Het
Mbtps1	A	T	8: 120,265,598 (GRCm39)	H316Q	probably benign	Het
Mms22l	T	A	4: 24,580,063 (GRCm39)	Y525*	probably null	Het
Mrps14	T	C	1: 160,022,862 (GRCm39)	L9P	possibly damaging	Het
Mycbp2	G	A	14: 103,393,358 (GRCm39)	H3068Y	probably damaging	Het
Myo15a	A	G	11: 60,401,055 (GRCm39)	D2992G	possibly damaging	Het
N4bp2	T	A	5: 65,966,543 (GRCm39)	L1327Q	probably damaging	Het
Nradd	A	T	9: 110,451,243 (GRCm39)	F42I	probably benign	Het
Or5k8	T	A	16: 58,644,842 (GRCm39)	I77F	probably damaging	Het
Pank1	T	C	19: 34,804,754 (GRCm39)	H134R	probably benign	Het
Pcdh7	T	A	5: 58,286,458 (GRCm39)	M1178K	possibly damaging	Het
Pcnx3	A	T	19: 5,717,633 (GRCm39)	I1084N	probably damaging	Het
Pdcd11	A	G	19: 47,093,191 (GRCm39)	M490V	probably benign	Het
Phf2	T	C	13: 48,958,165 (GRCm39)	K950E	unknown	Het
Pitpnc1	C	T	11: 107,103,344 (GRCm39)	A252T	probably damaging	Het
Prickle2	A	G	6: 92,402,652 (GRCm39)	L112P	probably damaging	Het
Prpf8	A	G	11: 75,381,357 (GRCm39)	I231V	probably benign	Het
Scin	T	A	12: 40,130,984 (GRCm39)	M310L	probably benign	Het
Serpina3m	T	A	12: 104,355,483 (GRCm39)	I50N	probably benign	Het
Skint8	C	G	4: 111,794,274 (GRCm39)	N221K	probably damaging	Het
Slc22a23	C	T	13: 34,366,990 (GRCm39)	V673M	probably benign	Het
Slc24a5	A	G	2: 124,929,361 (GRCm39)	D368G	probably damaging	Het
Slc28a1	A	T	7: 80,776,015 (GRCm39)	Q237L	possibly damaging	Het
Smchd1	T	A	17: 71,705,583 (GRCm39)	K1005N	possibly damaging	Het
Stim2	T	C	5: 54,262,717 (GRCm39)	Y320H	probably damaging	Het
Syne3	T	A	12: 104,919,357 (GRCm39)	D512V	probably damaging	Het
Tada2a	T	C	11: 83,970,455 (GRCm39)	D432G	probably damaging	Het
Tcp10a	T	C	17: 7,601,701 (GRCm39)	S216P	probably damaging	Het
Tmem178b	A	T	6: 40,184,435 (GRCm39)	Q111L	probably damaging	Het
Tmem236	A	G	2: 14,223,861 (GRCm39)	I217V	probably benign	Het
Tmem45b	A	G	9: 31,340,277 (GRCm39)	V128A	probably benign	Het
Tnfaip2	T	C	12: 111,412,456 (GRCm39)	Y286H	probably damaging	Het
Tsc2	T	A	17: 24,840,116 (GRCm39)	I427L	possibly damaging	Het
Ttc17	T	A	2: 94,132,139 (GRCm39)	N1180I	possibly damaging	Het
Ubr1	T	G	2: 120,694,811 (GRCm39)	D1707A	probably damaging	Het
Vmn1r11	A	G	6: 57,114,583 (GRCm39)	I82M	probably benign	Het
Vmn2r129	T	C	4: 156,687,014 (GRCm39)		noncoding transcript	Het
Vps41	G	T	13: 19,023,904 (GRCm39)		probably null	Het
Wnt5a	A	G	14: 28,235,274 (GRCm39)	Y86C	probably damaging	Het
Zfp629	T	C	7: 127,209,616 (GRCm39)	H731R	probably damaging	Het
Zfp712	T	C	13: 67,189,960 (GRCm39)	E189G	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
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'- TGCGGTTAGAAGCCACATAG -3'
(R):5'- CTTGGTTGGCCTAGGGAAAGAG -3'

Sequencing Primer
(F):5'- AGCCACATAGCGGGATTTGTG -3'
(R):5'- AAGGGCATGGACTCCTGG -3'

Posted On

2014-10-01