Mutagenetix > Incidental Mutation

Incidental Mutation 'R4588:Lipo4'

342640

Institutional Source

Beutler Lab

Gene Symbol

Lipo4

Ensembl Gene

ENSMUSG00000079344

Gene Name

lipase, member O4

Synonyms

Gm6857

MMRRC Submission

042007-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.075) question?

Stock #

R4588 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

33498037-33517780 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 33499247 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 367 (P367L)

Ref Sequence

ENSEMBL: ENSMUSP00000108130 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000112511]

AlphaFold

F6RR30

Predicted Effect

possibly damaging
Transcript: ENSMUST00000112511
AA Change: P367L

PolyPhen 2 Score 0.818 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000108130
Gene: ENSMUSG00000079344
AA Change: P367L

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Pfam:Abhydro_lipase	35	97	3e-24	PFAM
Pfam:Hydrolase_4	74	239	4.7e-8	PFAM
Pfam:Abhydrolase_1	78	214	2.5e-16	PFAM
Pfam:Abhydrolase_5	78	372	1.1e-11	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000143522

SMART Domains

Protein: ENSMUSP00000121321
Gene: ENSMUSG00000079344

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
Pfam:Abhydro_lipase	37	99	1.3e-24	PFAM
Pfam:Hydrolase_4	76	241	7.1e-9	PFAM
Pfam:Abhydrolase_1	80	214	8.8e-17	PFAM
Pfam:Abhydrolase_5	80	235	1.5e-8	PFAM

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.2%

Validation Efficiency

98% (51/52)

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca7	G	T	10: 79,997,867		probably null	Het
Abcb4	A	T	5: 8,947,328	I936F	probably benign	Het
Adnp2	G	T	18: 80,128,648	L849I	probably benign	Het
Atf7ip	T	C	6: 136,599,694	S1032P	probably benign	Het
Atr	A	C	9: 95,865,667	D334A	probably benign	Het
Atrip	A	T	9: 109,060,279	D20E	probably damaging	Het
Atxn7	T	A	14: 14,096,268	C43*	probably null	Het
Cfap65	C	A	1: 74,904,056	Q1603H	possibly damaging	Het
Cpne5	T	C	17: 29,164,713	I327V	probably benign	Het
Ctsa	T	C	2: 164,834,150	S41P	possibly damaging	Het
Cyp4x1	A	T	4: 115,108,797	L444Q	probably damaging	Het
Dchs1	C	A	7: 105,756,041	M2431I	probably benign	Het
Ddi1	T	A	9: 6,266,003	H122L	probably benign	Het
Defa21	C	T	8: 21,025,648	P21S	probably damaging	Het
Ect2	A	G	3: 27,147,000	V77A	probably damaging	Het
Ermap	C	A	4: 119,188,248		probably benign	Het
Fancm	G	A	12: 65,118,441		probably null	Het
Gcnt3	T	A	9: 70,034,230	D352V	probably damaging	Het
Gys2	A	G	6: 142,449,455	M428T	possibly damaging	Het
Igtp	T	A	11: 58,206,682	N226K	probably damaging	Het
Itpr2	T	A	6: 146,241,196	H1675L	probably benign	Het
Lzts3	T	C	2: 130,634,766	*587W	probably null	Het
Mast3	T	A	8: 70,780,607	K300*	probably null	Het
Mepce	G	A	5: 137,785,272	T264I	possibly damaging	Het
Mif4gd	A	T	11: 115,609,546	I62N	probably damaging	Het
Olfr307	C	T	7: 86,335,644	V251I	probably benign	Het
Olfr869	T	A	9: 20,138,087	*324K	probably null	Het
Palm3	A	G	8: 84,029,386	K509R	probably benign	Het
Pde11a	T	C	2: 76,029,303	T821A	probably damaging	Het
Pik3r5	A	G	11: 68,493,261		probably benign	Het
Pkhd1	T	C	1: 20,200,868	T3154A	probably benign	Het
Ptprs	A	G	17: 56,425,534	Y438H	probably damaging	Het
Rdh8	T	A	9: 20,822,729	D70E	probably benign	Het
Scn2a	A	T	2: 65,713,767	I831L	possibly damaging	Het
Selenoo	A	G	15: 89,096,718	H420R	probably benign	Het
Slc22a16	T	C	10: 40,570,681		probably benign	Het
Slc5a1	A	G	5: 33,145,288	T208A	probably benign	Het
Sparc	T	C	11: 55,405,236	M121V	probably benign	Het
Sstr1	G	T	12: 58,213,631	A347S	probably benign	Het
Stab1	C	A	14: 31,157,445	V693F	probably benign	Het
Tnn	A	G	1: 160,145,111	V307A	probably benign	Het
Trmt1	A	G	8: 84,690,753		probably benign	Het
Ttc3	T	C	16: 94,442,901	S1255P	probably benign	Het
Ube2ql1	A	C	13: 69,739,157	S62A	unknown	Het
Vmn2r84	T	A	10: 130,385,940	M804L	probably damaging	Het
Vps13a	T	C	19: 16,640,039	T3002A	probably damaging	Het
Vps50	A	G	6: 3,562,306	E467G	probably damaging	Het

Other mutations in Lipo4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00536:Lipo4	APN	19	33515686	missense	probably damaging	1.00
IGL01609:Lipo4	APN	19	33499254	missense	probably benign	0.01
IGL01731:Lipo4	APN	19	33512613	missense	probably damaging	1.00
R0134:Lipo4	UTSW	19	33501606	missense	probably benign	0.02
R0225:Lipo4	UTSW	19	33501606	missense	probably benign	0.02
R1155:Lipo4	UTSW	19	33503195	missense	probably benign
R1381:Lipo4	UTSW	19	33499341	missense	probably benign	0.02
R1460:Lipo4	UTSW	19	33499318	missense	probably benign
R1607:Lipo4	UTSW	19	33512673	missense	probably damaging	1.00
R1777:Lipo4	UTSW	19	33499321	missense	probably damaging	1.00
R1919:Lipo4	UTSW	19	33499271	missense	possibly damaging	0.66
R1998:Lipo4	UTSW	19	33514301	missense	probably damaging	0.98
R2088:Lipo4	UTSW	19	33500069	missense	possibly damaging	0.95
R2112:Lipo4	UTSW	19	33511526	missense	probably benign	0.07
R3931:Lipo4	UTSW	19	33503219	missense	probably benign
R4869:Lipo4	UTSW	19	33501553	critical splice donor site	probably null
R5406:Lipo4	UTSW	19	33503218	missense	probably benign	0.00
R5640:Lipo4	UTSW	19	33501586	missense	possibly damaging	0.92
R6160:Lipo4	UTSW	19	33503293	missense	probably damaging	0.99
R6957:Lipo4	UTSW	19	33499367	missense	probably benign	0.30
R7403:Lipo4	UTSW	19	33503279	missense	possibly damaging	0.91
R7816:Lipo4	UTSW	19	33514242	missense	probably damaging	1.00
R7847:Lipo4	UTSW	19	33514199	missense	possibly damaging	0.95
R7868:Lipo4	UTSW	19	33511568	missense	possibly damaging	0.68
R7890:Lipo4	UTSW	19	33501564	missense	probably damaging	1.00
R7975:Lipo4	UTSW	19	33512628	missense	probably damaging	1.00
R8391:Lipo4	UTSW	19	33511565	missense	probably benign	0.02
R9428:Lipo4	UTSW	19	33517674	missense	probably benign	0.09
X0028:Lipo4	UTSW	19	33503288	frame shift	probably null
Z1176:Lipo4	UTSW	19	33503184	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TGGCCAAGCAAGAAAACATTTGC -3'
(R):5'- CCAAGCTCAATGATTTCTATGGAC -3'

Sequencing Primer
(F):5'- TGCACTTATAAGAACAAGAGACTTTC -3'
(R):5'- AATGTTTTGTTAACGCATTGCTC -3'

Posted On

2015-09-24