Mutagenetix > Incidental Mutation

Incidental Mutation 'R7868:Lipo4'

607946

Institutional Source

Beutler Lab

Gene Symbol

Lipo4

Ensembl Gene

ENSMUSG00000079344

Gene Name

lipase, member O4

Synonyms

Gm6857

MMRRC Submission

045920-MU

Accession Numbers

Essential gene?

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

Stock #

R7868 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

33498037-33517780 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 33511568 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Proline at position 205 (Q205P)

Ref Sequence

ENSEMBL: ENSMUSP00000108130 (fasta)

Gene Model

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

AlphaFold

F6RR30

Predicted Effect

possibly damaging
Transcript: ENSMUST00000112511
AA Change: Q205P

PolyPhen 2 Score 0.676 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000108130
Gene: ENSMUSG00000079344
AA Change: Q205P

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: Q206P

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: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933415A04Rik	GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	11: 43,587,430		probably null	Het
Acacb	A	G	5: 114,248,227	E2274G	probably benign	Het
Adam7	A	G	14: 68,532,641	I21T	possibly damaging	Het
Aldh3b3	C	T	19: 3,968,492	R57*	probably null	Het
Arhgap22	T	C	14: 33,364,516		probably benign	Het
B4galt5	G	T	2: 167,301,420	Y361*	probably null	Het
BC005537	C	T	13: 24,803,399	R7W	possibly damaging	Het
Bsn	G	T	9: 108,114,899	A1218D	possibly damaging	Het
Ccdc141	T	C	2: 77,108,412	D283G	probably damaging	Het
Ccdc33	T	A	9: 58,069,091	I547F	probably benign	Het
Chdh	A	G	14: 30,031,331	N66D	probably benign	Het
Ckap2l	T	A	2: 129,285,289	Q323L	probably damaging	Het
Cpvl	T	A	6: 53,974,760	I13F	possibly damaging	Het
Creb3l2	G	A	6: 37,335,869	P410L	probably damaging	Het
Dna2	T	C	10: 62,969,864	V960A	probably benign	Het
Dopey1	G	A	9: 86,501,984		probably null	Het
Dpysl5	A	T	5: 30,745,416	D64V	probably damaging	Het
Dysf	A	G	6: 84,114,099	Q1041R	probably benign	Het
Efcab7	T	C	4: 99,888,957	V242A	probably benign	Het
Ehbp1	G	A	11: 22,146,542	R341*	probably null	Het
Fbxo32	A	T	15: 58,214,590	W8R	probably damaging	Het
Fpgs	T	C	2: 32,683,460	N455D	probably damaging	Het
Fsip1	G	A	2: 118,136,486	Q453*	probably null	Het
Gm13103	A	G	4: 143,851,584	H138R	possibly damaging	Het
Gm8257	T	A	14: 44,657,297	E12V	probably damaging	Het
Gm8300	G	T	12: 87,516,618		probably benign	Het
Kdm3a	A	T	6: 71,595,489	D1029E	probably benign	Het
Lpar6	A	T	14: 73,238,995	N132I	probably damaging	Het
Lrp1b	C	T	2: 41,449,234	G866S		Het
Man2c1	T	C	9: 57,137,986	F460L	probably damaging	Het
Map3k7cl	T	C	16: 87,581,212	V72A	probably damaging	Het
Map4k1	A	T	7: 28,999,962		probably null	Het
Matn1	A	G	4: 130,955,000	E496G	probably damaging	Het
Mfsd2a	A	T	4: 122,956,855	V76E	possibly damaging	Het
Mtpap	A	G	18: 4,380,673	E117G	probably damaging	Het
Muc3	T	A	5: 137,146,777	N15I		Het
Mut	C	T	17: 40,947,043	R367C	probably damaging	Het
Ndufa10	A	G	1: 92,460,447	Y275H	probably damaging	Het
Nlrc4	A	T	17: 74,448,052	H56Q	possibly damaging	Het
Nrde2	G	A	12: 100,131,187	R785C	possibly damaging	Het
Nsun4	C	A	4: 116,034,132	C350F	probably benign	Het
Olfr1410	G	A	1: 92,608,515	G226D	possibly damaging	Het
Olfr229	T	A	9: 39,909,986	F61Y	probably benign	Het
Olfr417	A	G	1: 174,368,985	T23A	probably benign	Het
Olfr560	A	G	7: 102,753,605	L108P	possibly damaging	Het
Pdcd7	T	A	9: 65,346,979	C280S	probably damaging	Het
Peak1	G	T	9: 56,260,470	T58K	probably damaging	Het
Phactr2	T	C	10: 13,232,609	E573G	probably damaging	Het
Ptprz1	G	A	6: 23,000,964	A1018T	not run	Het
Ralgapa1	G	T	12: 55,612,638	D2032E	probably benign	Het
Rapgef4	T	A	2: 72,201,137	N488K	probably benign	Het
Slc1a2	A	G	2: 102,761,185	D420G	probably benign	Het
Smyd5	T	A	6: 85,444,315	L337Q	probably damaging	Het
Tenm4	G	A	7: 96,906,380	R2764H	possibly damaging	Het
Tex35	A	T	1: 157,099,338	Y195*	probably null	Het
Tln2	T	C	9: 67,348,226	K690E	probably damaging	Het
Trpc4	A	G	3: 54,302,286	T691A	probably benign	Het
Tsr1	T	A	11: 74,900,332	F246I	possibly damaging	Het
Ttn	ATATCTCTCCAGAGCCTCCCCTGGAGGAGTGGAGTATCTCTCCAGAGCCTCCCCTGGAGGAGTGGAGTATCTCTCCAGAGCCTCCCCTG	ATATCTCTCCAGAGCCTCCCCTGGAGGAGTGGAGTATCTCTCCAGAGCCTCCCCTG	2: 76,915,806		probably benign	Het
Ubr4	A	T	4: 139,460,033	Y669F	unknown	Het
Uox	A	C	3: 146,610,274	D12A	probably benign	Het
Wdr17	A	G	8: 54,696,267		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
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
R7847:Lipo4	UTSW	19	33,514,199 (GRCm38)	missense	possibly damaging	0.95
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'- GGCTGCCCAACTTTGAAATATGAC -3'
(R):5'- CACTCCGATGACTAAACTAAGGG -3'

Sequencing Primer
(F):5'- GCCCAACTTTGAAATATGACTCATTG -3'
(R):5'- CCGATGACTAAACTAAGGGAATATTC -3'

Posted On

2019-12-20