Mutagenetix > Incidental Mutation

Incidental Mutation 'R4791:Lmf1'

368627

Institutional Source

Beutler Lab

Gene Symbol

Lmf1

Ensembl Gene

ENSMUSG00000002279

Gene Name

lipase maturation factor 1

Synonyms

Tmem112, 2400010G15Rik

MMRRC Submission

041976-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4791 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

25579174-25662826 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 25654471 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 317 (V317M)

Ref Sequence

ENSEMBL: ENSMUSP00000112340 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000063344] [ENSMUST00000116641] [ENSMUST00000137201]

AlphaFold

Q3U3R4

Predicted Effect

probably damaging
Transcript: ENSMUST00000063344
AA Change: V317M

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000066682
Gene: ENSMUSG00000002279
AA Change: V317M

Domain	Start	End	E-Value	Type
transmembrane domain	50	72	N/A	INTRINSIC
transmembrane domain	97	119	N/A	INTRINSIC
transmembrane domain	129	151	N/A	INTRINSIC
Pfam:LMF1	169	551	2.3e-142	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000116641
AA Change: V317M

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000112340
Gene: ENSMUSG00000002279
AA Change: V317M

Domain	Start	End	E-Value	Type
transmembrane domain	50	72	N/A	INTRINSIC
transmembrane domain	97	119	N/A	INTRINSIC
transmembrane domain	129	151	N/A	INTRINSIC
Pfam:LMF1	169	553	1.2e-148	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000137201

Predicted Effect

probably benign
Transcript: ENSMUST00000141606

SMART Domains

Protein: ENSMUSP00000129263
Gene: ENSMUSG00000002279

Domain	Start	End	E-Value	Type
Pfam:LMF1	2	90	9.8e-37	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000154842

SMART Domains

Protein: ENSMUSP00000119563
Gene: ENSMUSG00000002279

Domain	Start	End	E-Value	Type
transmembrane domain	47	69	N/A	INTRINSIC
transmembrane domain	94	116	N/A	INTRINSIC
transmembrane domain	126	148	N/A	INTRINSIC
Pfam:LMF1	166	298	2.4e-60	PFAM

Meta Mutation Damage Score

0.8099

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.3%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene resides in the endoplasmic reticulum, and is involved in the maturation and transport of lipoprotein lipase through the secretory pathway. Mutations in this gene are associated with combined lipase deficiency. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, May 2010]
PHENOTYPE: Mutations in this gene result in neonatal death following progressive cyanosis, combined lipase deficiency, and hypertriglyceridemia. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921507P07Rik	G	T	6: 50,595,837 (GRCm38)	P32Q	probably damaging	Het
Abcc6	C	T	7: 45,982,160 (GRCm38)	V1231M	probably benign	Het
Agl	A	G	3: 116,786,528 (GRCm38)		probably null	Het
Ak7	T	C	12: 105,710,145 (GRCm38)	F35L	probably benign	Het
Aldh1a1	A	G	19: 20,619,985 (GRCm38)	N110S	probably damaging	Het
Arhgef5	C	T	6: 43,283,183 (GRCm38)	L1368F	probably damaging	Het
Atp5j2	T	C	5: 145,184,555 (GRCm38)	Y72C	possibly damaging	Het
Atp6v0a2	T	G	5: 124,646,727 (GRCm38)	F317V	probably benign	Het
Bank1	A	T	3: 136,254,929 (GRCm38)	S56T	probably benign	Het
BC080695	A	G	4: 143,570,989 (GRCm38)		probably benign	Het
Cachd1	T	A	4: 100,918,085 (GRCm38)	C166S	probably damaging	Het
Cand1	A	G	10: 119,210,702 (GRCm38)	I961T	probably benign	Het
Ccdc73	G	A	2: 104,981,105 (GRCm38)		probably null	Het
Cct6b	A	T	11: 82,742,004 (GRCm38)		probably null	Het
Chd2	A	C	7: 73,468,577 (GRCm38)	S1098A	probably benign	Het
Col6a4	A	T	9: 106,080,202 (GRCm38)	V141E	possibly damaging	Het
Col6a5	T	C	9: 105,930,784 (GRCm38)	T1022A	unknown	Het
Cr2	A	T	1: 195,155,935 (GRCm38)	C698S	probably damaging	Het
Diexf	G	A	1: 193,128,267 (GRCm38)	H143Y	probably benign	Het
Dnaaf5	C	A	5: 139,184,650 (GRCm38)	Q786K	possibly damaging	Het
Dnah6	T	C	6: 73,095,074 (GRCm38)	D2423G	probably benign	Het
Dnhd1	T	C	7: 105,721,117 (GRCm38)	F4583S	probably damaging	Het
Duoxa2	A	T	2: 122,301,198 (GRCm38)	T123S	probably damaging	Het
Edem1	T	G	6: 108,841,634 (GRCm38)	V201G	probably damaging	Het
Eef1d	C	T	15: 75,903,682 (GRCm38)	A43T	possibly damaging	Het
Elavl3	T	C	9: 22,024,678 (GRCm38)	K249E	probably damaging	Het
Epg5	G	T	18: 77,948,996 (GRCm38)	E303*	probably null	Het
Fam83h	T	C	15: 76,002,368 (GRCm38)	D1040G	probably damaging	Het
Fndc7	A	T	3: 108,876,659 (GRCm38)	F211L	probably benign	Het
Fsip2	A	G	2: 82,982,108 (GRCm38)	T2924A	possibly damaging	Het
Gm5616	T	C	9: 48,450,683 (GRCm38)		noncoding transcript	Het
Gpr135	T	A	12: 72,069,868 (GRCm38)	D375V	probably benign	Het
Hgd	A	G	16: 37,631,825 (GRCm38)	*446W	probably null	Het
Hivep2	C	A	10: 14,128,969 (GRCm38)	T437K	probably benign	Het
Htra2	A	G	6: 83,051,817 (GRCm38)	L379P	probably damaging	Het
Hypk	G	T	2: 121,457,655 (GRCm38)		probably null	Het
Ica1l	A	G	1: 60,010,201 (GRCm38)	F198L	probably damaging	Het
Igsf11	G	A	16: 39,024,864 (GRCm38)	S319N	probably damaging	Het
Il12rb1	T	C	8: 70,813,368 (GRCm38)	S213P	possibly damaging	Het
Katnal1	C	T	5: 148,904,650 (GRCm38)	V135M	probably damaging	Het
Kcnc4	G	A	3: 107,447,543 (GRCm38)	P530S	probably benign	Het
Kcnu1	T	C	8: 25,913,752 (GRCm38)	Y24H	probably damaging	Het
Kdm5b	A	G	1: 134,630,800 (GRCm38)	E1515G	possibly damaging	Het
Kif18a	A	T	2: 109,287,875 (GRCm38)	M12L	probably benign	Het
Klre1	T	C	6: 129,584,155 (GRCm38)	S160P	probably damaging	Het
Lama2	A	T	10: 27,467,271 (GRCm38)	H68Q	probably damaging	Het
Lgals8	T	C	13: 12,453,322 (GRCm38)	K49R	possibly damaging	Het
Lsr	T	C	7: 30,958,552 (GRCm38)	T328A	probably damaging	Het
Mark4	C	T	7: 19,451,657 (GRCm38)	E51K	probably benign	Het
Mindy2	T	C	9: 70,634,001 (GRCm38)		probably null	Het
Mkks	G	A	2: 136,876,162 (GRCm38)	T400I	probably benign	Het
Mon2	T	A	10: 123,006,057 (GRCm38)	M1544L	probably benign	Het
Mrc2	G	A	11: 105,348,431 (GRCm38)		probably null	Het
Myo5c	T	G	9: 75,290,916 (GRCm38)	L1341R	probably damaging	Het
Nin	T	C	12: 70,043,807 (GRCm38)	R945G	possibly damaging	Het
Nox4	T	C	7: 87,304,847 (GRCm38)	V120A	probably benign	Het
Olfr1196	C	T	2: 88,700,898 (GRCm38)	V144I	probably benign	Het
Olfr1496	T	A	19: 13,781,342 (GRCm38)	C243*	probably null	Het
Olfr169	G	T	16: 19,566,663 (GRCm38)	H73Q	possibly damaging	Het
Olfr30	A	T	11: 58,455,544 (GRCm38)	V135E	possibly damaging	Het
Olfr847	T	C	9: 19,375,809 (GRCm38)	E24G	probably benign	Het
Plekha2	T	A	8: 25,042,762 (GRCm38)	R398W	probably damaging	Het
Pradc1	A	G	6: 85,447,191 (GRCm38)	W58R	probably damaging	Het
Prrc2b	A	G	2: 32,217,339 (GRCm38)		probably null	Het
Psg19	T	A	7: 18,794,146 (GRCm38)	N224I	probably damaging	Het
Ranbp17	A	C	11: 33,487,746 (GRCm38)	V164G	probably benign	Het
Rasgrp3	A	G	17: 75,500,173 (GRCm38)	S211G	probably benign	Het
Rcc1l	G	A	5: 134,163,776 (GRCm38)	P270S	possibly damaging	Het
Rfx6	T	A	10: 51,719,944 (GRCm38)		probably null	Het
Rnf222	A	T	11: 68,893,019 (GRCm38)	E137D	probably damaging	Het
Selenof	T	G	3: 144,596,823 (GRCm38)	Y120D	probably damaging	Het
Sema3b	G	T	9: 107,603,813 (GRCm38)	D108E	probably damaging	Het
Shank3	T	A	15: 89,500,354 (GRCm38)	L143Q	probably damaging	Het
Shtn1	G	C	19: 59,050,873 (GRCm38)	R45G	probably damaging	Het
Sirt4	T	C	5: 115,480,314 (GRCm38)	T234A	possibly damaging	Het
Slc25a30	C	A	14: 75,763,366 (GRCm38)	W266L	probably benign	Het
Spata20	A	T	11: 94,484,586 (GRCm38)	N127K	probably damaging	Het
St14	C	T	9: 31,095,622 (GRCm38)	G636D	probably benign	Het
Stat5a	G	A	11: 100,865,463 (GRCm38)	E170K	probably damaging	Het
Sugp2	C	T	8: 70,242,790 (GRCm38)	R138C	probably damaging	Het
Sult1e1	C	A	5: 87,586,730 (GRCm38)	W119L	possibly damaging	Het
Sv2a	T	C	3: 96,192,558 (GRCm38)	V608A	possibly damaging	Het
Syne2	T	C	12: 75,909,244 (GRCm38)	Y575H	possibly damaging	Het
Taok2	G	A	7: 126,868,132 (GRCm38)	S167L	possibly damaging	Het
Thoc6	T	C	17: 23,670,067 (GRCm38)	H151R	possibly damaging	Het
Tm9sf2	T	C	14: 122,139,650 (GRCm38)	S197P	probably benign	Het
Tmem260	CAGGGACCGGCATAG	CAG	14: 48,511,994 (GRCm38)		probably benign	Het
Tmx2	G	A	2: 84,677,996 (GRCm38)	P15L	probably damaging	Het
Top1mt	C	T	15: 75,668,625 (GRCm38)		probably null	Het
Trpm6	T	A	19: 18,867,981 (GRCm38)	S1682T	probably benign	Het
Trrap	C	T	5: 144,803,277 (GRCm38)	R1171W	probably damaging	Het
Ugt3a2	A	G	15: 9,361,579 (GRCm38)	D147G	probably damaging	Het
Vnn3	A	G	10: 23,864,621 (GRCm38)	H274R	probably benign	Het
Vwf	C	A	6: 125,643,363 (GRCm38)	T1668K		Het
Zfp568	T	C	7: 30,015,183 (GRCm38)	S162P	probably damaging	Het
Zfp658	T	A	7: 43,574,466 (GRCm38)	C722S	possibly damaging	Het
Zfp808	T	A	13: 62,171,231 (GRCm38)	H91Q	probably damaging	Het

Other mutations in Lmf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03153:Lmf1	APN	17	25,585,650 (GRCm38)	missense	possibly damaging	0.51
R0117:Lmf1	UTSW	17	25,655,991 (GRCm38)	unclassified	probably benign
R1757:Lmf1	UTSW	17	25,655,210 (GRCm38)	missense	probably damaging	1.00
R1906:Lmf1	UTSW	17	25,612,335 (GRCm38)	missense	probably damaging	0.99
R2389:Lmf1	UTSW	17	25,654,471 (GRCm38)	missense	probably damaging	1.00
R2446:Lmf1	UTSW	17	25,654,471 (GRCm38)	missense	probably damaging	1.00
R3797:Lmf1	UTSW	17	25,654,471 (GRCm38)	missense	probably damaging	1.00
R3798:Lmf1	UTSW	17	25,654,471 (GRCm38)	missense	probably damaging	1.00
R3855:Lmf1	UTSW	17	25,654,471 (GRCm38)	missense	probably damaging	1.00
R3953:Lmf1	UTSW	17	25,654,471 (GRCm38)	missense	probably damaging	1.00
R3955:Lmf1	UTSW	17	25,654,471 (GRCm38)	missense	probably damaging	1.00
R3956:Lmf1	UTSW	17	25,654,471 (GRCm38)	missense	probably damaging	1.00
R4290:Lmf1	UTSW	17	25,654,481 (GRCm38)	missense	probably damaging	1.00
R4291:Lmf1	UTSW	17	25,654,481 (GRCm38)	missense	probably damaging	1.00
R4293:Lmf1	UTSW	17	25,654,481 (GRCm38)	missense	probably damaging	1.00
R4636:Lmf1	UTSW	17	25,654,471 (GRCm38)	missense	probably damaging	1.00
R4698:Lmf1	UTSW	17	25,579,350 (GRCm38)	missense	probably damaging	0.98
R4792:Lmf1	UTSW	17	25,654,471 (GRCm38)	missense	probably damaging	1.00
R4968:Lmf1	UTSW	17	25,585,618 (GRCm38)	missense	probably damaging	1.00
R4997:Lmf1	UTSW	17	25,588,676 (GRCm38)	nonsense	probably null
R5047:Lmf1	UTSW	17	25,631,838 (GRCm38)	intron	probably benign
R5152:Lmf1	UTSW	17	25,655,519 (GRCm38)	missense	probably damaging	0.99
R5419:Lmf1	UTSW	17	25,662,636 (GRCm38)	missense	possibly damaging	0.94
R6162:Lmf1	UTSW	17	25,612,394 (GRCm38)	missense	probably benign	0.00
R6693:Lmf1	UTSW	17	25,645,278 (GRCm38)	missense	probably benign	0.00
R7583:Lmf1	UTSW	17	25,655,449 (GRCm38)	missense
R7642:Lmf1	UTSW	17	25,654,471 (GRCm38)	missense	probably damaging	1.00
R7667:Lmf1	UTSW	17	25,654,608 (GRCm38)	critical splice donor site	probably null
R7671:Lmf1	UTSW	17	25,579,349 (GRCm38)	missense	possibly damaging	0.75
R7818:Lmf1	UTSW	17	25,662,591 (GRCm38)	missense	probably benign	0.30
R8851:Lmf1	UTSW	17	25,585,706 (GRCm38)	nonsense	probably null
R9181:Lmf1	UTSW	17	25,585,744 (GRCm38)	missense	probably damaging	0.99
R9524:Lmf1	UTSW	17	25,662,540 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTTGGGACCAGAACTGAGAG -3'
(R):5'- TTTCATGAGGCTTAGGCAGG -3'

Sequencing Primer
(F):5'- CTTGGGACCAGAACTGAGAGAATGG -3'
(R):5'- GCTTAGGCAGGAGGGTCATG -3'

Posted On

2016-02-04