Mutagenetix > Incidental Mutation

Incidental Mutation 'R7403:Lipo4'

574386

Institutional Source

Beutler Lab

Gene Symbol

Lipo4

Ensembl Gene

ENSMUSG00000079344

Gene Name

lipase, member O4

Synonyms

Gm6857

MMRRC Submission

045485-MU

Accession Numbers

Essential gene?

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

Stock #

R7403 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

33498037-33517780 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 33503279 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 230 (E230K)

Ref Sequence

ENSEMBL: ENSMUSP00000108130 (fasta)

Gene Model

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

AlphaFold

F6RR30

Predicted Effect

possibly damaging
Transcript: ENSMUST00000112511
AA Change: E230K

PolyPhen 2 Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000108130
Gene: ENSMUSG00000079344
AA Change: E230K

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

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Appl2	G	A	10: 83,614,195	A271V	probably benign	Het
Brpf3	C	T	17: 28,821,356	T917I	probably benign	Het
Camta1	G	A	4: 151,453,295	Q143*	probably null	Het
Ccdc129	T	A	6: 55,976,414	L905*	probably null	Het
Cd3e	C	A	9: 45,002,292	E48D	probably benign	Het
Clca3b	A	G	3: 144,823,498	L805P	probably benign	Het
Crispld1	A	G	1: 17,747,596	Y241C	probably damaging	Het
Ddx43	T	G	9: 78,413,851	N380K	probably damaging	Het
Dtl	A	T	1: 191,563,173	V155E	probably damaging	Het
Elp2	A	G	18: 24,619,485	H365R	probably damaging	Het
Fam126b	A	T	1: 58,548,702	D117E	possibly damaging	Het
Fam78a	T	C	2: 32,069,615	N161S	probably damaging	Het
Far2	T	C	6: 148,158,977	I276T	possibly damaging	Het
Frem3	T	C	8: 80,616,145	L1689P	probably damaging	Het
Gak	T	C	5: 108,613,535	K210R	probably benign	Het
Gm21319	G	T	12: 87,773,544	Q82K	probably benign	Het
Gna14	G	T	19: 16,599,081	D151Y		Het
Hdhd2	A	G	18: 76,955,040	D55G	probably benign	Het
Ifna5	A	G	4: 88,835,873	N117D	probably benign	Het
Ikbkap	A	T	4: 56,778,994	C608S	probably damaging	Het
Il16	T	A	7: 83,670,135	T383S	probably damaging	Het
Il1f5	T	C	2: 24,281,202	F101L	probably damaging	Het
Ino80d	A	G	1: 63,062,219	V416A	possibly damaging	Het
Ints6	T	C	14: 62,707,655	R409G	possibly damaging	Het
Itgb5	G	T	16: 33,902,793		probably null	Het
Kcnq3	T	A	15: 66,002,217	R561W	probably damaging	Het
Kdelc2	T	A	9: 53,390,441	V131E	probably damaging	Het
Lrrc7	A	T	3: 158,148,674	L1299*	probably null	Het
Mcm3ap	T	C	10: 76,482,823		probably null	Het
Mok	A	T	12: 110,815,129		probably null	Het
Mylk2	T	A	2: 152,917,341	V344E	probably damaging	Het
Oacyl	T	C	18: 65,737,895	V389A	probably benign	Het
Olfr284	T	C	15: 98,340,119	Y290C	probably damaging	Het
Olfr335-ps	T	C	2: 36,302,330	F264L	probably benign	Het
Oplah	T	C	15: 76,305,009	D278G	probably benign	Het
Padi3	T	C	4: 140,800,119	N124D	probably benign	Het
Parp3	T	C	9: 106,474,853	S107G	probably benign	Het
Pcdhb18	G	A	18: 37,491,897	G760D	probably benign	Het
Plekhh1	G	A	12: 79,040,577	W13*	probably null	Het
Pou2f1	C	T	1: 165,911,386	A166T	unknown	Het
Ppp1r10	C	T	17: 35,929,434	P539S	probably benign	Het
Prdm11	T	C	2: 92,986,691	T310A	probably benign	Het
Rbm25	A	G	12: 83,676,134	Y777C	probably damaging	Het
Relt	A	T	7: 100,851,448	C72S	probably damaging	Het
Rhag	T	A	17: 40,834,658	I334N	probably damaging	Het
Rhbdf2	A	C	11: 116,600,419	L630R	probably damaging	Het
Rnps1	T	C	17: 24,425,087	S274P	unknown	Het
Rtkn2	A	G	10: 68,005,636	I205V	probably benign	Het
Ryr1	A	T	7: 29,013,867	V4690E	probably benign	Het
Secisbp2l	T	C	2: 125,760,279	Y387C	possibly damaging	Het
Sema3d	A	T	5: 12,497,584	I158F	probably damaging	Het
Slc17a1	A	G	13: 23,874,707	N48S	probably benign	Het
Slc2a1	G	A	4: 119,132,555	G130S	probably damaging	Het
Slc6a3	T	C	13: 73,562,427		probably null	Het
Snx27	A	T	3: 94,528,926	S261T	probably damaging	Het
Spag17	A	T	3: 99,939,375	I72F	possibly damaging	Het
Spink6	T	G	18: 44,071,497	L10R	unknown	Het
Swt1	G	A	1: 151,388,693	T690I	probably benign	Het
Syne2	G	A	12: 75,915,246	E729K	not run	Het
Synj2	C	T	17: 6,037,730	T1352M	possibly damaging	Het
Taar4	G	A	10: 23,961,059	G189D	probably damaging	Het
Thsd4	T	C	9: 60,056,887	N441D	probably damaging	Het
Tm9sf2	A	G	14: 122,141,228	D248G	probably benign	Het
Tmem69	A	T	4: 116,553,467	L102Q	probably damaging	Het
Tshr	A	G	12: 91,497,774	Y98C	probably damaging	Het
Tspan1	A	G	4: 116,163,022	V230A	probably benign	Het
Upk3a	T	C	15: 85,019,508	V136A	possibly damaging	Het
Ush2a	T	A	1: 188,633,727	N2259K	probably damaging	Het
Usp24	A	G	4: 106,407,035	D1721G	possibly damaging	Het
Vldlr	T	A	19: 27,236,274	C120*	probably null	Het
Vmn2r23	A	T	6: 123,704,579	I149L	probably benign	Het
Vps8	A	T	16: 21,434,972	E21V	possibly damaging	Het
Wdr35	A	G	12: 9,012,685	I635V	probably damaging	Het
Zfp955a	T	C	17: 33,243,746	D58G	probably benign	Het
Zkscan5	A	G	5: 145,218,593	Q358R	probably benign	Het

Other mutations in Lipo4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00536:Lipo4	APN	19	33515686	missense	probably damaging	1.00
IGL01609:Lipo4	APN	19	33499254	missense	probably benign	0.01
IGL01731:Lipo4	APN	19	33512613	missense	probably damaging	1.00
R0134:Lipo4	UTSW	19	33501606	missense	probably benign	0.02
R0225:Lipo4	UTSW	19	33501606	missense	probably benign	0.02
R1155:Lipo4	UTSW	19	33503195	missense	probably benign
R1381:Lipo4	UTSW	19	33499341	missense	probably benign	0.02
R1460:Lipo4	UTSW	19	33499318	missense	probably benign
R1607:Lipo4	UTSW	19	33512673	missense	probably damaging	1.00
R1777:Lipo4	UTSW	19	33499321	missense	probably damaging	1.00
R1919:Lipo4	UTSW	19	33499271	missense	possibly damaging	0.66
R1998:Lipo4	UTSW	19	33514301	missense	probably damaging	0.98
R2088:Lipo4	UTSW	19	33500069	missense	possibly damaging	0.95
R2112:Lipo4	UTSW	19	33511526	missense	probably benign	0.07
R3931:Lipo4	UTSW	19	33503219	missense	probably benign
R4588:Lipo4	UTSW	19	33499247	missense	possibly damaging	0.82
R4869:Lipo4	UTSW	19	33501553	critical splice donor site	probably null
R5406:Lipo4	UTSW	19	33503218	missense	probably benign	0.00
R5640:Lipo4	UTSW	19	33501586	missense	possibly damaging	0.92
R6160:Lipo4	UTSW	19	33503293	missense	probably damaging	0.99
R6957:Lipo4	UTSW	19	33499367	missense	probably benign	0.30
R7816:Lipo4	UTSW	19	33514242	missense	probably damaging	1.00
R7847:Lipo4	UTSW	19	33514199	missense	possibly damaging	0.95
R7868:Lipo4	UTSW	19	33511568	missense	possibly damaging	0.68
R7890:Lipo4	UTSW	19	33501564	missense	probably damaging	1.00
R7975:Lipo4	UTSW	19	33512628	missense	probably damaging	1.00
R8391:Lipo4	UTSW	19	33511565	missense	probably benign	0.02
R9428:Lipo4	UTSW	19	33517674	missense	probably benign	0.09
X0028:Lipo4	UTSW	19	33503288	frame shift	probably null
Z1176:Lipo4	UTSW	19	33503184	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GCAGATACAGTTGCTCTCTTCG -3'
(R):5'- CACCCCAAAATGTTCATGATTCTC -3'

Sequencing Primer
(F):5'- TTGCTCTCTTCGCAAAACAC -3'
(R):5'- GTTTCTCAAGTTAGGTACTGAATGTC -3'

Posted On

2019-09-13