Mutagenetix > Incidental Mutation

Incidental Mutation 'R3953:Lmf1'

308078

Institutional Source

Beutler Lab

Gene Symbol

Lmf1

Ensembl Gene

ENSMUSG00000002279

Gene Name

lipase maturation factor 1

Synonyms

Tmem112, 2400010G15Rik

MMRRC Submission

040830-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3953 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

25798059-25881800 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 25873445 bp (GRCm39)

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: 97.1%
20x: 94.5%

Validation Efficiency

100% (61/61)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam2	G	A	14: 66,295,059 (GRCm39)	S262L	probably damaging	Het
Adgrf1	A	G	17: 43,621,098 (GRCm39)	N445S	probably benign	Het
Aldh7a1	C	A	18: 56,681,577 (GRCm39)	V198L	probably damaging	Het
Ank2	A	T	3: 126,781,809 (GRCm39)	D6E	probably damaging	Het
Arhgap31	A	G	16: 38,423,826 (GRCm39)	F747L	probably benign	Het
B4galt3	C	A	1: 171,101,613 (GRCm39)	H196N	probably damaging	Het
Cadps	T	C	14: 12,505,937 (GRCm38)	D711G	probably damaging	Het
Clspn	ACGGCGGCGGC	A	4: 126,460,230 (GRCm39)		probably null	Het
Cpsf3	A	G	12: 21,363,806 (GRCm39)	D632G	probably benign	Het
Cyp4f18	C	T	8: 72,754,801 (GRCm39)	R148H	probably damaging	Het
Dennd4a	C	A	9: 64,759,857 (GRCm39)	P321T	probably damaging	Het
Dennd5a	A	G	7: 109,504,906 (GRCm39)	M868T	probably benign	Het
Dipk1b	C	T	2: 26,525,579 (GRCm39)	P171L	probably benign	Het
Dnah2	G	A	11: 69,344,929 (GRCm39)	T2715M	probably damaging	Het
Evc2	T	C	5: 37,537,931 (GRCm39)		probably null	Het
Fkbp8	T	G	8: 70,987,517 (GRCm39)	S376A	probably damaging	Het
Gucy1a2	T	C	9: 3,582,704 (GRCm39)		probably benign	Het
Gys1	C	T	7: 45,089,470 (GRCm39)	P274S	probably damaging	Het
Hbq1a	T	C	11: 32,250,214 (GRCm39)		probably null	Het
Herc1	C	T	9: 66,341,075 (GRCm39)	Q1731*	probably null	Het
Igfn1	A	G	1: 135,894,918 (GRCm39)	Y1883H	possibly damaging	Het
Lnx1	T	C	5: 74,766,750 (GRCm39)	T455A	probably benign	Het
Mast2	A	T	4: 116,170,926 (GRCm39)	H612Q	probably damaging	Het
Mcm9	G	A	10: 53,439,440 (GRCm39)	H578Y	probably damaging	Het
Mefv	A	G	16: 3,533,264 (GRCm39)	S336P	possibly damaging	Het
Micu1	A	T	10: 59,586,326 (GRCm39)	H134L	probably benign	Het
Mrgprb2	C	T	7: 48,202,116 (GRCm39)	G203D	possibly damaging	Het
Ncapd2	T	C	6: 125,147,697 (GRCm39)	I1179V	probably damaging	Het
Nek7	C	A	1: 138,462,127 (GRCm39)	C79F	probably damaging	Het
Nup210l	A	T	3: 90,100,361 (GRCm39)	R1462S	possibly damaging	Het
Or14j6	A	T	17: 38,214,500 (GRCm39)	H21L	probably benign	Het
Or51f1	A	G	7: 102,505,824 (GRCm39)	C222R	probably damaging	Het
Or5al1	A	G	2: 85,990,282 (GRCm39)	V144A	probably benign	Het
Or5b119	G	A	19: 13,456,806 (GRCm39)	S252L	probably benign	Het
Pcnx3	A	G	19: 5,733,808 (GRCm39)		probably benign	Het
Pi4ka	A	G	16: 17,103,145 (GRCm39)		probably benign	Het
Ptgir	A	G	7: 16,640,794 (GRCm39)	M29V	possibly damaging	Het
Ptprb	A	G	10: 116,177,399 (GRCm39)	N1320S	probably benign	Het
Ralgapa2	C	T	2: 146,277,884 (GRCm39)	V426I	probably damaging	Het
Rhobtb2	T	C	14: 70,031,488 (GRCm39)	T546A	possibly damaging	Het
Robo1	A	G	16: 72,821,226 (GRCm39)	D1331G	probably damaging	Het
Sgcz	A	G	8: 37,993,346 (GRCm39)		probably benign	Het
Slc26a1	T	C	5: 108,821,448 (GRCm39)	D147G	possibly damaging	Het
Slc44a5	A	G	3: 153,877,209 (GRCm39)	D13G	probably benign	Het
Slco1a1	A	T	6: 141,868,833 (GRCm39)	M377K	probably damaging	Het
St18	T	A	1: 6,873,117 (GRCm39)	L284Q	probably damaging	Het
Tbc1d9	C	T	8: 83,960,161 (GRCm39)	T138I	probably damaging	Het
Tec	T	C	5: 72,939,520 (GRCm39)		probably null	Het
Tln2	G	A	9: 67,277,911 (GRCm39)	P368S	probably damaging	Het
Tmem131l	C	A	3: 83,817,726 (GRCm39)	C1257F	probably damaging	Het
Tmf1	C	A	6: 97,153,167 (GRCm39)	R302L	probably damaging	Het
Tnip3	A	T	6: 65,574,379 (GRCm39)	T137S	possibly damaging	Het
Trim30d	C	T	7: 104,121,728 (GRCm39)	G339D	probably damaging	Het
Tspan32	T	A	7: 142,560,735 (GRCm39)	M61K	probably damaging	Het
Ttc6	T	C	12: 57,744,238 (GRCm39)	V1290A	probably benign	Het
Ttn	A	G	2: 76,799,593 (GRCm39)	V429A	possibly damaging	Het
Vmn2r95	T	A	17: 18,660,358 (GRCm39)	Y257N	possibly damaging	Het
Vps13d	A	G	4: 144,875,450 (GRCm39)	S1686P	probably damaging	Het
Wdr41	A	G	13: 95,133,571 (GRCm39)	E75G	probably damaging	Het

Other mutations in Lmf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03153:Lmf1	APN	17	25,804,624 (GRCm39)	missense	possibly damaging	0.51
R0117:Lmf1	UTSW	17	25,874,965 (GRCm39)	unclassified	probably benign
R1757:Lmf1	UTSW	17	25,874,184 (GRCm39)	missense	probably damaging	1.00
R1906:Lmf1	UTSW	17	25,831,309 (GRCm39)	missense	probably damaging	0.99
R2389:Lmf1	UTSW	17	25,873,445 (GRCm39)	missense	probably damaging	1.00
R2446:Lmf1	UTSW	17	25,873,445 (GRCm39)	missense	probably damaging	1.00
R3797:Lmf1	UTSW	17	25,873,445 (GRCm39)	missense	probably damaging	1.00
R3798:Lmf1	UTSW	17	25,873,445 (GRCm39)	missense	probably damaging	1.00
R3855:Lmf1	UTSW	17	25,873,445 (GRCm39)	missense	probably damaging	1.00
R3955:Lmf1	UTSW	17	25,873,445 (GRCm39)	missense	probably damaging	1.00
R3956:Lmf1	UTSW	17	25,873,445 (GRCm39)	missense	probably damaging	1.00
R4290:Lmf1	UTSW	17	25,873,455 (GRCm39)	missense	probably damaging	1.00
R4291:Lmf1	UTSW	17	25,873,455 (GRCm39)	missense	probably damaging	1.00
R4293:Lmf1	UTSW	17	25,873,455 (GRCm39)	missense	probably damaging	1.00
R4636:Lmf1	UTSW	17	25,873,445 (GRCm39)	missense	probably damaging	1.00
R4698:Lmf1	UTSW	17	25,798,324 (GRCm39)	missense	probably damaging	0.98
R4791:Lmf1	UTSW	17	25,873,445 (GRCm39)	missense	probably damaging	1.00
R4792:Lmf1	UTSW	17	25,873,445 (GRCm39)	missense	probably damaging	1.00
R4968:Lmf1	UTSW	17	25,804,592 (GRCm39)	missense	probably damaging	1.00
R4997:Lmf1	UTSW	17	25,807,650 (GRCm39)	nonsense	probably null
R5047:Lmf1	UTSW	17	25,850,812 (GRCm39)	intron	probably benign
R5152:Lmf1	UTSW	17	25,874,493 (GRCm39)	missense	probably damaging	0.99
R5419:Lmf1	UTSW	17	25,881,610 (GRCm39)	missense	possibly damaging	0.94
R6162:Lmf1	UTSW	17	25,831,368 (GRCm39)	missense	probably benign	0.00
R6693:Lmf1	UTSW	17	25,864,252 (GRCm39)	missense	probably benign	0.00
R7583:Lmf1	UTSW	17	25,874,423 (GRCm39)	missense
R7642:Lmf1	UTSW	17	25,873,445 (GRCm39)	missense	probably damaging	1.00
R7667:Lmf1	UTSW	17	25,873,582 (GRCm39)	critical splice donor site	probably null
R7671:Lmf1	UTSW	17	25,798,323 (GRCm39)	missense	possibly damaging	0.75
R7818:Lmf1	UTSW	17	25,881,565 (GRCm39)	missense	probably benign	0.30
R8851:Lmf1	UTSW	17	25,804,680 (GRCm39)	nonsense	probably null
R9181:Lmf1	UTSW	17	25,804,718 (GRCm39)	missense	probably damaging	0.99
R9524:Lmf1	UTSW	17	25,881,514 (GRCm39)	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

2015-04-17