Mutagenetix > Incidental Mutation

Incidental Mutation 'R8391:Lipo4'

647405

Institutional Source

Beutler Lab

Gene Symbol

Lipo4

Ensembl Gene

ENSMUSG00000079344

Gene Name

lipase, member O4

Synonyms

Gm6857

MMRRC Submission

067756-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.082) question?

Stock #

R8391 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

33476449-33495170 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 33488965 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 206 (H206L)

Ref Sequence

ENSEMBL: ENSMUSP00000108130 (fasta)

Gene Model

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

AlphaFold

F6RR30

Predicted Effect

probably benign
Transcript: ENSMUST00000112511
AA Change: H206L

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

SMART Domains

Protein: ENSMUSP00000108130
Gene: ENSMUSG00000079344
AA Change: H206L

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: H207L

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcf3	T	C	16: 20,368,968 (GRCm39)	S155P	possibly damaging	Het
Akr1c21	C	T	13: 4,626,278 (GRCm39)	R101W	probably damaging	Het
Angpt1	T	A	15: 42,375,794 (GRCm39)	N154I	probably damaging	Het
Aoc1l2	T	C	6: 48,909,602 (GRCm39)	W616R	probably damaging	Het
Atp2a1	T	A	7: 126,047,888 (GRCm39)	I641F	possibly damaging	Het
Bach1	G	A	16: 87,516,179 (GRCm39)	R240Q	probably benign	Het
Bltp3b	T	C	10: 89,645,605 (GRCm39)	V1226A	possibly damaging	Het
Cacna1b	G	A	2: 24,596,212 (GRCm39)	A493V	probably damaging	Het
Cacna1h	G	A	17: 25,596,204 (GRCm39)	A1939V	probably benign	Het
Cacna2d4	A	G	6: 119,325,706 (GRCm39)	I1027V	probably benign	Het
Cbln3	G	A	14: 56,120,523 (GRCm39)	R170C	probably damaging	Het
Cemip	T	C	7: 83,604,517 (GRCm39)	S842G	probably damaging	Het
Cep164	T	A	9: 45,718,491 (GRCm39)	Q284L	unknown	Het
Crybg2	T	C	4: 133,803,035 (GRCm39)	F889L	probably damaging	Het
Fhip1a	T	C	3: 85,595,788 (GRCm39)	N366D	probably damaging	Het
Gars1	T	A	6: 55,025,127 (GRCm39)	Y124N	probably damaging	Het
Gbp2b	T	C	3: 142,309,894 (GRCm39)	F228S	probably damaging	Het
Gm5565	C	A	5: 146,096,962 (GRCm39)	R59L	probably benign	Het
Gm8947	A	T	1: 151,068,737 (GRCm39)	D190V	probably benign	Het
Grid2ip	T	C	5: 143,365,951 (GRCm39)	M543T	probably damaging	Het
Gucy2c	A	G	6: 136,681,213 (GRCm39)	L957P	probably damaging	Het
Hint1	T	C	11: 54,757,368 (GRCm39)	I18T	possibly damaging	Het
Il23r	T	C	6: 67,429,374 (GRCm39)	S323G	probably benign	Het
Iqcf3	T	G	9: 106,438,175 (GRCm39)	E16A	unknown	Het
Kcnj1	A	T	9: 32,308,028 (GRCm39)	T151S	probably damaging	Het
Kdm1a	G	T	4: 136,281,154 (GRCm39)	T685K	probably benign	Het
Lrp5	A	G	19: 3,654,185 (GRCm39)	Y1081H	probably damaging	Het
Masp1	A	T	16: 23,289,128 (GRCm39)	H557Q	possibly damaging	Het
Nhsl1	C	T	10: 18,400,691 (GRCm39)	T605I	possibly damaging	Het
Or1af1	T	A	2: 37,110,277 (GRCm39)	Y259N	probably damaging	Het
Or1j21	C	T	2: 36,684,096 (GRCm39)	P283S	probably damaging	Het
Pkmyt1	C	T	17: 23,954,013 (GRCm39)	R307C	probably damaging	Het
Plppr4	T	C	3: 117,129,060 (GRCm39)	I136V	probably benign	Het
Ppp1r12c	A	C	7: 4,500,431 (GRCm39)	Y150D	probably damaging	Het
Qrich2	C	G	11: 116,356,403 (GRCm39)	V149L	probably benign	Het
R3hdm1	T	C	1: 128,121,215 (GRCm39)	F176L		Het
Ric8a	T	A	7: 140,437,916 (GRCm39)	S52T	probably benign	Het
Romo1	G	T	2: 155,986,340 (GRCm39)		probably benign	Het
Rps6ka1	G	A	4: 133,591,346 (GRCm39)	H318Y	probably damaging	Het
Slc43a3	A	G	2: 84,768,151 (GRCm39)	N41S	probably benign	Het
Srrm4	T	G	5: 116,582,755 (GRCm39)	T567P	unknown	Het
Srsf12	C	G	4: 33,226,070 (GRCm39)	P111R	probably damaging	Het
St6galnac4	G	T	2: 32,484,086 (GRCm39)	D95Y	probably damaging	Het
Sult2a6	T	C	7: 13,956,516 (GRCm39)		probably null	Het
Synj2	A	G	17: 5,991,796 (GRCm39)	E24G	probably damaging	Het
Try10	T	G	6: 41,334,306 (GRCm39)	L166R	probably damaging	Het
Ttn	A	G	2: 76,562,544 (GRCm39)	V28767A	probably damaging	Het
Ttn	T	A	2: 76,604,822 (GRCm39)	I18371F	probably damaging	Het
Zc3h13	T	A	14: 75,568,625 (GRCm39)	L1306Q	probably damaging	Het
Zp2	T	A	7: 119,726,179 (GRCm39)	T674S	probably benign	Het
Zscan4-ps3	A	G	7: 11,346,801 (GRCm39)	Y279C	probably benign	Het

Other mutations in Lipo4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00536:Lipo4	APN	19	33,493,086 (GRCm39)	missense	probably damaging	1.00
IGL01609:Lipo4	APN	19	33,476,654 (GRCm39)	missense	probably benign	0.01
IGL01731:Lipo4	APN	19	33,490,013 (GRCm39)	missense	probably damaging	1.00
R0134:Lipo4	UTSW	19	33,479,006 (GRCm39)	missense	probably benign	0.02
R0225:Lipo4	UTSW	19	33,479,006 (GRCm39)	missense	probably benign	0.02
R1155:Lipo4	UTSW	19	33,480,595 (GRCm39)	missense	probably benign
R1381:Lipo4	UTSW	19	33,476,741 (GRCm39)	missense	probably benign	0.02
R1460:Lipo4	UTSW	19	33,476,718 (GRCm39)	missense	probably benign
R1607:Lipo4	UTSW	19	33,490,073 (GRCm39)	missense	probably damaging	1.00
R1777:Lipo4	UTSW	19	33,476,721 (GRCm39)	missense	probably damaging	1.00
R1919:Lipo4	UTSW	19	33,476,671 (GRCm39)	missense	possibly damaging	0.66
R1998:Lipo4	UTSW	19	33,491,701 (GRCm39)	missense	probably damaging	0.98
R2088:Lipo4	UTSW	19	33,477,469 (GRCm39)	missense	possibly damaging	0.95
R2112:Lipo4	UTSW	19	33,488,926 (GRCm39)	missense	probably benign	0.07
R3931:Lipo4	UTSW	19	33,480,619 (GRCm39)	missense	probably benign
R4588:Lipo4	UTSW	19	33,476,647 (GRCm39)	missense	possibly damaging	0.82
R4869:Lipo4	UTSW	19	33,478,953 (GRCm39)	critical splice donor site	probably null
R5406:Lipo4	UTSW	19	33,480,618 (GRCm39)	missense	probably benign	0.00
R5640:Lipo4	UTSW	19	33,478,986 (GRCm39)	missense	possibly damaging	0.92
R6160:Lipo4	UTSW	19	33,480,693 (GRCm39)	missense	probably damaging	0.99
R6957:Lipo4	UTSW	19	33,476,767 (GRCm39)	missense	probably benign	0.30
R7403:Lipo4	UTSW	19	33,480,679 (GRCm39)	missense	possibly damaging	0.91
R7816:Lipo4	UTSW	19	33,491,642 (GRCm39)	missense	probably damaging	1.00
R7847:Lipo4	UTSW	19	33,491,599 (GRCm39)	missense	possibly damaging	0.95
R7868:Lipo4	UTSW	19	33,488,968 (GRCm39)	missense	possibly damaging	0.68
R7890:Lipo4	UTSW	19	33,478,964 (GRCm39)	missense	probably damaging	1.00
R7975:Lipo4	UTSW	19	33,490,028 (GRCm39)	missense	probably damaging	1.00
R9428:Lipo4	UTSW	19	33,495,074 (GRCm39)	missense	probably benign	0.09
X0028:Lipo4	UTSW	19	33,480,688 (GRCm39)	frame shift	probably null
Z1176:Lipo4	UTSW	19	33,480,584 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AGGCTGCCCAACTTTGAAATATG -3'
(R):5'- AACACTCCGATGACTAAACTAAGGG -3'

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

Posted On

2020-09-02