Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01731:Lipo4'

105468

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Lipo4

Ensembl Gene

ENSMUSG00000079344

Gene Name

lipase, member O4

Synonyms

Gm6857

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.102) question?

Stock #

IGL01731

Quality Score

Status

Chromosome

Chromosomal Location

33476449-33495170 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 33490013 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 163 (Q163L)

Ref Sequence

ENSEMBL: ENSMUSP00000108130 (fasta)

Gene Model

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

AlphaFold

F6RR30

Predicted Effect

probably damaging
Transcript: ENSMUST00000112511
AA Change: Q163L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000108130
Gene: ENSMUSG00000079344
AA Change: Q163L

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

unknown
Transcript: ENSMUST00000143522
AA Change: Q164L

SMART Domains

Protein: ENSMUSP00000121321
Gene: ENSMUSG00000079344
AA Change: Q164L

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A430093F15Rik	T	A	19: 10,762,711 (GRCm39)		probably benign	Het
Abca13	T	C	11: 9,199,749 (GRCm39)		probably benign	Het
Abcc6	G	A	7: 45,652,034 (GRCm39)	P611L	possibly damaging	Het
Acsl6	A	G	11: 54,241,385 (GRCm39)	E547G	probably benign	Het
Aldh1b1	T	C	4: 45,803,472 (GRCm39)	F337L	possibly damaging	Het
Alg1	C	T	16: 5,062,383 (GRCm39)	R422C	probably benign	Het
Ankrd23	A	G	1: 36,573,147 (GRCm39)	L75S	probably damaging	Het
Arid5b	T	C	10: 67,933,439 (GRCm39)	H578R	probably damaging	Het
Atp10a	G	T	7: 58,447,310 (GRCm39)	W684L	probably benign	Het
Bzw2	T	C	12: 36,157,647 (GRCm39)		probably null	Het
C2cd2	A	T	16: 97,671,372 (GRCm39)	I509K	probably damaging	Het
Card11	T	C	5: 140,868,057 (GRCm39)	T864A	possibly damaging	Het
Ces1f	A	G	8: 93,993,948 (GRCm39)	S278P	possibly damaging	Het
Chd8	T	C	14: 52,450,111 (GRCm39)	I208V	probably benign	Het
Cstf2t	T	C	19: 31,061,738 (GRCm39)	S425P	probably benign	Het
Cxcl1	A	G	5: 91,039,436 (GRCm39)	T60A	probably benign	Het
Diaph1	G	T	18: 37,986,762 (GRCm39)		probably benign	Het
Dnai4	T	C	4: 102,919,632 (GRCm39)	I139V	probably benign	Het
Exoc3l	T	G	8: 106,019,587 (GRCm39)	K394T	probably benign	Het
Fabp4	T	C	3: 10,270,293 (GRCm39)		probably benign	Het
Fam234b	T	A	6: 135,188,903 (GRCm39)	F169L	possibly damaging	Het
Hectd1	C	A	12: 51,849,593 (GRCm39)	D204Y	possibly damaging	Het
Hephl1	A	T	9: 14,981,066 (GRCm39)	Y789N	probably damaging	Het
Igfbp6	C	A	15: 102,053,252 (GRCm39)	N90K	probably benign	Het
Khdrbs1	A	T	4: 129,619,462 (GRCm39)	D226E	probably benign	Het
Med13l	T	C	5: 118,880,472 (GRCm39)	I1188T	probably benign	Het
Mki67	T	C	7: 135,298,278 (GRCm39)	E2252G	probably benign	Het
Nepn	G	T	10: 52,276,660 (GRCm39)	R132L	probably benign	Het
Nlrp9b	T	A	7: 19,757,342 (GRCm39)	L193*	probably null	Het
Ntn1	A	G	11: 68,276,244 (GRCm39)	S235P	probably damaging	Het
Nup210l	G	T	3: 90,061,873 (GRCm39)	R684L	probably damaging	Het
Obi1	T	C	14: 104,716,738 (GRCm39)	D545G	probably damaging	Het
Obp2b	A	G	2: 25,629,293 (GRCm39)	S154G	possibly damaging	Het
Or10ag59	A	G	2: 87,406,282 (GRCm39)	T285A	probably benign	Het
Or4f57	A	G	2: 111,790,980 (GRCm39)	V146A	probably benign	Het
Or51b6b	T	A	7: 103,310,053 (GRCm39)	T135S	probably benign	Het
Or5p1	A	T	7: 107,916,682 (GRCm39)	I194F	probably benign	Het
Polr3b	A	T	10: 84,467,704 (GRCm39)	R95*	probably null	Het
Prelid2	C	T	18: 42,070,714 (GRCm39)	V40M	probably benign	Het
Ptprb	T	G	10: 116,208,781 (GRCm39)	L2205R	probably damaging	Het
R3hcc1l	T	C	19: 42,551,240 (GRCm39)	V79A	probably benign	Het
Stam2	A	G	2: 52,598,162 (GRCm39)	I259T	probably damaging	Het
Tdpoz4	A	T	3: 93,704,189 (GRCm39)	N162I	possibly damaging	Het
Tuba3a	A	G	6: 125,259,721 (GRCm39)	V75A	possibly damaging	Het
Vmn2r73	A	T	7: 85,506,757 (GRCm39)	*852K	probably null	Het
Zfp7	C	T	15: 76,772,505 (GRCm39)	Q69*	probably null	Het
Zfp865	G	T	7: 5,032,875 (GRCm39)	A287S	probably benign	Het
Zmpste24	T	A	4: 120,955,081 (GRCm39)	Q39L	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
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
R8391:Lipo4	UTSW	19	33,488,965 (GRCm39)	missense	probably benign	0.02
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

Posted On

2014-01-21