Mutagenetix > Incidental Mutation

Incidental Mutation 'R7847:Lipo4'

606706

Institutional Source

Beutler Lab

Gene Symbol

Lipo4

Ensembl Gene

ENSMUSG00000079344

Gene Name

lipase, member O4

Synonyms

Gm6857

MMRRC Submission

045901-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.119) question?

Stock #

R7847 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

33498037-33517780 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 33514199 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 128 (V128E)

Ref Sequence

ENSEMBL: ENSMUSP00000108130 (fasta)

Gene Model

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

AlphaFold

F6RR30

Predicted Effect

possibly damaging
Transcript: ENSMUST00000112511
AA Change: V128E

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000108130
Gene: ENSMUSG00000079344
AA Change: V128E

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

SMART Domains

Protein: ENSMUSP00000121321
Gene: ENSMUSG00000079344
AA Change: V129E

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: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (45/45)

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2300002M23Rik	T	A	17: 35,568,652 (GRCm38)	Y296N	probably benign	Het
Abcc4	T	C	14: 118,627,480 (GRCm38)	E378G	probably damaging	Het
Acp2	C	T	2: 91,210,732 (GRCm38)	H422Y	possibly damaging	Het
Aldoart1	C	T	4: 72,851,956 (GRCm38)	C205Y	probably damaging	Het
Alg9	T	C	9: 50,789,605 (GRCm38)	L225S	possibly damaging	Het
Anapc1	A	C	2: 128,669,908 (GRCm38)	V455G	possibly damaging	Het
Arhgef5	C	A	6: 43,275,135 (GRCm38)	S940*	probably null	Het
Asb15	C	A	6: 24,564,267 (GRCm38)	A240E	probably damaging	Het
BB014433	GCACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTACACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGG	GCACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGG	8: 15,042,160 (GRCm38)		probably benign	Het
Ccdc17	A	G	4: 116,599,906 (GRCm38)	E529G	probably benign	Het
Cyp2b10	T	C	7: 25,897,760 (GRCm38)	S26P	possibly damaging	Het
Dcp1b	T	C	6: 119,215,295 (GRCm38)	S391P	probably benign	Het
Dock6	A	T	9: 21,801,207 (GRCm38)	L2086Q	unknown	Het
Ephx1	A	G	1: 181,001,861 (GRCm38)	S41P	probably benign	Het
Erbb3	G	A	10: 128,571,189 (GRCm38)	T1034M	probably damaging	Het
Gm17334	T	A	11: 53,772,738 (GRCm38)		probably benign	Het
Golgb1	A	G	16: 36,931,920 (GRCm38)	H3227R	probably damaging	Het
Grin2c	G	A	11: 115,260,978 (GRCm38)	P52L	possibly damaging	Het
Herc2	T	C	7: 56,157,560 (GRCm38)		probably null	Het
Il17rb	A	G	14: 29,996,806 (GRCm38)	Y440H	probably damaging	Het
Kcng4	A	G	8: 119,626,142 (GRCm38)	L343P	probably damaging	Het
Knl1	G	A	2: 119,070,976 (GRCm38)	E1053K	probably benign	Het
Lmntd2	T	C	7: 141,210,150 (GRCm38)	N650D	probably benign	Het
Lrrfip2	T	C	9: 111,213,880 (GRCm38)	L460P	probably damaging	Het
Man2a2	G	C	7: 80,368,865 (GRCm38)	A82G	probably benign	Het
Mtcl1	T	C	17: 66,344,333 (GRCm38)	Q1379R	probably damaging	Het
Mtfr2	G	A	10: 20,357,452 (GRCm38)	A256T	probably benign	Het
Mup17	T	A	4: 61,593,219 (GRCm38)	H159L	probably benign	Het
Ndufaf1	A	T	2: 119,660,053 (GRCm38)	D175E	probably damaging	Het
Nup210l	A	G	3: 90,151,123 (GRCm38)	M610V	probably benign	Het
Olfr1338	G	T	4: 118,754,368 (GRCm38)	H59N	possibly damaging	Het
Olfr1354	T	A	10: 78,916,896 (GRCm38)	S19T	probably benign	Het
Olfr955	A	G	9: 39,470,505 (GRCm38)	S74P	probably benign	Het
Pard3b	A	G	1: 62,343,934 (GRCm38)	D729G	probably benign	Het
Phactr1	T	C	13: 43,057,188 (GRCm38)	L169P	possibly damaging	Het
Rad54b	T	A	4: 11,612,655 (GRCm38)	S762R	probably damaging	Het
Senp5	C	T	16: 31,990,173 (GRCm38)	V88I	probably benign	Het
Specc1l	T	C	10: 75,309,836 (GRCm38)	V1105A	probably damaging	Het
Trak2	A	C	1: 58,935,818 (GRCm38)	S72A	possibly damaging	Het
Ttyh2	T	C	11: 114,675,674 (GRCm38)		probably null	Het
Ush2a	G	A	1: 188,430,808 (GRCm38)	C1029Y	probably damaging	Het
Vmn2r17	A	G	5: 109,420,197 (GRCm38)	Y62C	probably damaging	Het
Vmn2r41	A	G	7: 8,161,548 (GRCm38)	F2L	probably benign	Het
Xirp1	G	T	9: 120,019,753 (GRCm38)	D21E	possibly damaging	Het
Zfp114	C	A	7: 24,181,035 (GRCm38)	Q270K	possibly damaging	Het
Zfp341	T	C	2: 154,634,194 (GRCm38)	S441P	probably damaging	Het
Zfp780b	A	C	7: 27,964,418 (GRCm38)	H237Q	probably benign	Het

Other mutations in Lipo4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00536:Lipo4	APN	19	33,515,686 (GRCm38)	missense	probably damaging	1.00
IGL01609:Lipo4	APN	19	33,499,254 (GRCm38)	missense	probably benign	0.01
IGL01731:Lipo4	APN	19	33,512,613 (GRCm38)	missense	probably damaging	1.00
R0134:Lipo4	UTSW	19	33,501,606 (GRCm38)	missense	probably benign	0.02
R0225:Lipo4	UTSW	19	33,501,606 (GRCm38)	missense	probably benign	0.02
R1155:Lipo4	UTSW	19	33,503,195 (GRCm38)	missense	probably benign
R1381:Lipo4	UTSW	19	33,499,341 (GRCm38)	missense	probably benign	0.02
R1460:Lipo4	UTSW	19	33,499,318 (GRCm38)	missense	probably benign
R1607:Lipo4	UTSW	19	33,512,673 (GRCm38)	missense	probably damaging	1.00
R1777:Lipo4	UTSW	19	33,499,321 (GRCm38)	missense	probably damaging	1.00
R1919:Lipo4	UTSW	19	33,499,271 (GRCm38)	missense	possibly damaging	0.66
R1998:Lipo4	UTSW	19	33,514,301 (GRCm38)	missense	probably damaging	0.98
R2088:Lipo4	UTSW	19	33,500,069 (GRCm38)	missense	possibly damaging	0.95
R2112:Lipo4	UTSW	19	33,511,526 (GRCm38)	missense	probably benign	0.07
R3931:Lipo4	UTSW	19	33,503,219 (GRCm38)	missense	probably benign
R4588:Lipo4	UTSW	19	33,499,247 (GRCm38)	missense	possibly damaging	0.82
R4869:Lipo4	UTSW	19	33,501,553 (GRCm38)	critical splice donor site	probably null
R5406:Lipo4	UTSW	19	33,503,218 (GRCm38)	missense	probably benign	0.00
R5640:Lipo4	UTSW	19	33,501,586 (GRCm38)	missense	possibly damaging	0.92
R6160:Lipo4	UTSW	19	33,503,293 (GRCm38)	missense	probably damaging	0.99
R6957:Lipo4	UTSW	19	33,499,367 (GRCm38)	missense	probably benign	0.30
R7403:Lipo4	UTSW	19	33,503,279 (GRCm38)	missense	possibly damaging	0.91
R7816:Lipo4	UTSW	19	33,514,242 (GRCm38)	missense	probably damaging	1.00
R7868:Lipo4	UTSW	19	33,511,568 (GRCm38)	missense	possibly damaging	0.68
R7890:Lipo4	UTSW	19	33,501,564 (GRCm38)	missense	probably damaging	1.00
R7975:Lipo4	UTSW	19	33,512,628 (GRCm38)	missense	probably damaging	1.00
R8391:Lipo4	UTSW	19	33,511,565 (GRCm38)	missense	probably benign	0.02
R9428:Lipo4	UTSW	19	33,517,674 (GRCm38)	missense	probably benign	0.09
X0028:Lipo4	UTSW	19	33,503,288 (GRCm38)	frame shift	probably null
Z1176:Lipo4	UTSW	19	33,503,184 (GRCm38)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TGTTTTAGCAGTAACACAAAGTCCC -3'
(R):5'- CCCTGTGTGCTAGTTTCAGAATC -3'

Sequencing Primer
(F):5'- CAAACCAGGTTACTCAAGTCAGTC -3'
(R):5'- GGCTCCATCATGCATATATGAAG -3'

Posted On

2019-12-20