Mutagenetix > Incidental Mutation

Incidental Mutation 'R0134:Lipo4'

21845

Institutional Source

Beutler Lab

Gene Symbol

Lipo4

Ensembl Gene

ENSMUSG00000079344

Gene Name

lipase, member O4

Synonyms

Gm6857

MMRRC Submission

038419-MU

Accession Numbers

Essential gene?

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

Stock #

R0134 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

33498037-33517780 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 33501606 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 278 (V278A)

Ref Sequence

ENSEMBL: ENSMUSP00000108130 (fasta)

Gene Model

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

AlphaFold

F6RR30

Predicted Effect

probably benign
Transcript: ENSMUST00000112511
AA Change: V278A

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000108130
Gene: ENSMUSG00000079344
AA Change: V278A

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

0.0898

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 96.4%
20x: 93.3%

Validation Efficiency

100% (59/59)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110059E24Rik	T	C	19: 21,598,201 (GRCm38)		probably benign	Het
Abca16	T	A	7: 120,540,155 (GRCm38)	L1470Q	probably damaging	Het
Arhgap23	G	T	11: 97,444,328 (GRCm38)	V70L	probably benign	Het
Bicd1	T	C	6: 149,512,950 (GRCm38)	I387T	probably benign	Het
Btbd9	C	T	17: 30,274,942 (GRCm38)	D492N	possibly damaging	Het
Cd59b	G	A	2: 104,078,941 (GRCm38)		probably null	Het
Ddx50	A	T	10: 62,621,377 (GRCm38)		probably benign	Het
Dele1	G	A	18: 38,261,264 (GRCm38)	V505I	probably benign	Het
Dnlz	T	C	2: 26,351,368 (GRCm38)	N116S	probably damaging	Het
Efcab14	T	C	4: 115,740,531 (GRCm38)	F108L	probably damaging	Het
Esyt2	A	G	12: 116,367,710 (GRCm38)	N736S	probably damaging	Het
Exoc4	A	G	6: 33,971,946 (GRCm38)	D908G	possibly damaging	Het
Garnl3	T	C	2: 33,006,804 (GRCm38)	T608A	possibly damaging	Het
Hdac2	T	A	10: 36,989,184 (GRCm38)	D131E	probably benign	Het
Hes1	T	C	16: 30,067,250 (GRCm38)	V224A	probably damaging	Het
Hps1	G	T	19: 42,766,180 (GRCm38)	Q277K	probably damaging	Het
Ighv15-2	T	G	12: 114,565,037 (GRCm38)		probably benign	Het
Il3	A	G	11: 54,265,680 (GRCm38)		probably null	Het
Itgae	A	C	11: 73,111,342 (GRCm38)	M91L	probably benign	Het
Kctd21	T	A	7: 97,348,091 (GRCm38)	I257N	probably benign	Het
Kif16b	A	T	2: 142,672,375 (GRCm38)	S1215T	probably benign	Het
Lhx9	A	T	1: 138,838,679 (GRCm38)	C124S	probably damaging	Het
Lrp1b	T	C	2: 40,596,983 (GRCm38)	E142G	probably damaging	Het
Macf1	T	C	4: 123,432,843 (GRCm38)	M2835V	possibly damaging	Het
Map9	G	A	3: 82,359,983 (GRCm38)		probably benign	Het
Miox	C	T	15: 89,334,454 (GRCm38)		probably benign	Het
Mndal	A	T	1: 173,857,513 (GRCm38)		probably benign	Het
Nanos3	C	T	8: 84,176,134 (GRCm38)	R133Q	probably damaging	Het
Nepn	A	T	10: 52,400,437 (GRCm38)	T29S	probably damaging	Het
Nlgn1	C	T	3: 25,435,925 (GRCm38)	C546Y	probably damaging	Het
Or14a260	A	G	7: 86,335,595 (GRCm38)	I267T	probably benign	Het
Or8k53	T	C	2: 86,347,728 (GRCm38)	I13V	possibly damaging	Het
Pdgfra	A	G	5: 75,166,511 (GRCm38)	D123G	probably damaging	Het
Plekhn1	T	C	4: 156,228,243 (GRCm38)	R53G	probably benign	Het
Pnp2	T	C	14: 50,963,177 (GRCm38)	F100S	probably damaging	Het
Prickle1	A	G	15: 93,510,777 (GRCm38)	L47P	possibly damaging	Het
Ptar1	T	A	19: 23,718,095 (GRCm38)	C309S	probably benign	Het
Rimoc1	T	C	15: 3,986,294 (GRCm38)	K263E	probably damaging	Het
Rxfp1	A	G	3: 79,657,476 (GRCm38)	S327P	probably damaging	Het
Siah2	A	G	3: 58,676,115 (GRCm38)	V250A	probably damaging	Het
Siglecg	G	A	7: 43,411,171 (GRCm38)	G325D	probably damaging	Het
Slc10a7	T	A	8: 78,697,158 (GRCm38)		probably null	Het
Slc9a1	A	G	4: 133,420,605 (GRCm38)	K645E	probably benign	Het
Smarca4	T	C	9: 21,637,324 (GRCm38)	L302P	probably damaging	Het
Smyd1	G	T	6: 71,216,765 (GRCm38)	T392N	probably damaging	Het
Snrnp40	C	G	4: 130,378,043 (GRCm38)		probably null	Het
Tenm3	A	T	8: 48,674,472 (GRCm38)	L57Q	probably damaging	Het
Tep1	C	T	14: 50,829,693 (GRCm38)	V2269I	possibly damaging	Het
Tpd52l1	A	G	10: 31,379,256 (GRCm38)	S32P	probably damaging	Het
Tsfm	A	G	10: 127,022,929 (GRCm38)		probably benign	Het
Ttn	C	A	2: 76,793,130 (GRCm38)	V15368L	possibly damaging	Het
Ttn	T	A	2: 76,710,124 (GRCm38)	R34173W	probably damaging	Het
Vmn2r13	C	A	5: 109,175,049 (GRCm38)	V125L	probably benign	Het
Vps13b	T	C	15: 35,887,261 (GRCm38)	I3272T	probably benign	Het
Zfp108	A	G	7: 24,260,467 (GRCm38)	H161R	probably benign	Het
Zfp518b	A	G	5: 38,674,659 (GRCm38)	M1T	probably null	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
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
R7847:Lipo4	UTSW	19	33,514,199 (GRCm38)	missense	possibly damaging	0.95
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'- CAGTTTCCTCATACACCTCAAGGGC -3'
(R):5'- ACTGTGGTCAAAACCCAGACTTGC -3'

Sequencing Primer
(F):5'- atatataaaGCCCTTTACTCCCAGG -3'
(R):5'- cacagtatgatgcacatggaag -3'

Posted On

2013-04-12