Mutagenetix > Incidental Mutation

Incidental Mutation 'R5406:Lipo4'

426302

Institutional Source

Beutler Lab

Gene Symbol

Lipo4

Ensembl Gene

ENSMUSG00000079344

Gene Name

lipase, member O4

Synonyms

Gm6857

MMRRC Submission

042976-MU

Accession Numbers

Essential gene?

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

Stock #

R5406 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

33498037-33517780 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 33503218 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 250 (V250A)

Ref Sequence

ENSEMBL: ENSMUSP00000108130 (fasta)

Gene Model

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

AlphaFold

F6RR30

Predicted Effect

probably benign
Transcript: ENSMUST00000112511
AA Change: V250A

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000108130
Gene: ENSMUSG00000079344
AA Change: V250A

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

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdhppt	A	T	9: 4,309,387	V17D	probably damaging	Het
Abcb1a	C	A	5: 8,702,946	Q566K	probably damaging	Het
Adam26a	A	T	8: 43,569,104	C450S	probably damaging	Het
Adar	C	T	3: 89,736,111	P433L	probably damaging	Het
Aldh1a2	G	T	9: 71,255,121	A151S	possibly damaging	Het
Arsk	T	A	13: 76,093,947	H69L	probably benign	Het
Atf6b	T	A	17: 34,653,797	Y600*	probably null	Het
Blk	C	A	14: 63,380,731	G242V	probably damaging	Het
Bmt2	A	T	6: 13,677,832	M1K	probably null	Het
Catsperg1	G	A	7: 29,185,523	T891M	probably damaging	Het
Ccdc32	A	C	2: 119,022,079	S131A	possibly damaging	Het
Cdh8	A	G	8: 99,196,370	V298A	probably damaging	Het
Cfap54	T	A	10: 93,001,858	Q1060L	probably benign	Het
Cfap58	G	A	19: 48,029,102	M800I	possibly damaging	Het
Cntn5	A	T	9: 9,833,460	V362D	probably damaging	Het
Fkbpl	G	A	17: 34,645,329	A24T	probably benign	Het
G2e3	T	C	12: 51,372,666	S699P	probably damaging	Het
Gbp4	G	T	5: 105,119,521	Q511K	possibly damaging	Het
Gdap2	T	A	3: 100,191,675	I361N	probably damaging	Het
Ino80c	T	A	18: 24,112,762	H92L	probably benign	Het
Llgl1	C	T	11: 60,713,184	R1055W	probably damaging	Het
Lrriq3	T	C	3: 155,129,501		probably null	Het
Mmp1a	A	G	9: 7,467,293	E290G	probably damaging	Het
Ncstn	A	G	1: 172,072,164	V317A	probably benign	Het
Nfxl1	G	A	5: 72,556,198	T134I	possibly damaging	Het
Nup155	A	T	15: 8,153,638		probably null	Het
Nup214	C	A	2: 32,002,607	P680T	probably damaging	Het
Olfr805	G	A	10: 129,722,930	L205F	probably damaging	Het
Olfr871	A	G	9: 20,213,158	K270E	probably benign	Het
Olfr874	A	G	9: 37,746,647	N171S	probably benign	Het
Olfr877	G	A	9: 37,855,219	V134I	probably benign	Het
Pkd2	T	C	5: 104,480,332	F424S	probably damaging	Het
Plb1	A	G	5: 32,341,915	D1074G	probably damaging	Het
Ppm1l	T	C	3: 69,317,594	S10P	possibly damaging	Het
Rnf213	A	G	11: 119,440,808	H2281R	probably damaging	Het
Rpa2	G	T	4: 132,776,248	A3S	probably benign	Het
Sardh	A	G	2: 27,211,084	V698A	possibly damaging	Het
Saxo2	A	T	7: 82,635,378	C91S	probably benign	Het
Slc3a2	T	C	19: 8,708,042	D198G	probably damaging	Het
Spata31d1d	T	A	13: 59,728,778	E314D	probably benign	Het
Sptlc3	T	C	2: 139,546,478	V130A	probably benign	Het
Stpg3	C	A	2: 25,213,568	E115*	probably null	Het
Tbcd	T	A	11: 121,452,101	D19E	probably benign	Het
Xrcc3	T	C	12: 111,812,111	D2G	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
R4588:Lipo4	UTSW	19	33499247	missense	possibly damaging	0.82
R4869:Lipo4	UTSW	19	33501553	critical splice donor site	probably null
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'- GAATTGCATGCAGGACACACC -3'
(R):5'- TCAGCAGCACATAGTAGTTTTGTC -3'

Sequencing Primer
(F):5'- AGTTAGCAGATACAGTTGCTCTC -3'
(R):5'- CAGCACATAGTAGTTTTGTCTTTTG -3'

Posted On

2016-09-01