Mutagenetix > Incidental Mutation

Incidental Mutation 'R5419:Lmf1'

427956

Institutional Source

Beutler Lab

Gene Symbol

Lmf1

Ensembl Gene

ENSMUSG00000002279

Gene Name

lipase maturation factor 1

Synonyms

Tmem112, 2400010G15Rik

MMRRC Submission

042987-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5419 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

25798059-25881800 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 25881610 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 553 (D553V)

Ref Sequence

ENSEMBL: ENSMUSP00000066682 (fasta)

Gene Model

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

AlphaFold

Q3U3R4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000063344
AA Change: D553V

PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000066682
Gene: ENSMUSG00000002279
AA Change: D553V

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

possibly damaging
Transcript: ENSMUST00000116641
AA Change: D553V

PolyPhen 2 Score 0.890 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000112340
Gene: ENSMUSG00000002279
AA Change: D553V

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

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.4%

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931429L15Rik	C	T	9: 46,220,624 (GRCm39)		probably null	Het
Abca13	T	A	11: 9,143,533 (GRCm39)		probably null	Het
Akap13	A	T	7: 75,259,991 (GRCm39)	T69S	probably benign	Het
Arl1	T	A	10: 88,572,966 (GRCm39)	C80S	probably damaging	Het
Bltp2	T	A	11: 78,162,916 (GRCm39)	L926*	probably null	Het
Brsk1	A	G	7: 4,712,003 (GRCm39)	T618A	possibly damaging	Het
Cep295	T	C	9: 15,235,533 (GRCm39)	H1982R	probably damaging	Het
Ces5a	A	T	8: 94,226,059 (GRCm39)	S559T	unknown	Het
Clcf1	A	G	19: 4,272,213 (GRCm39)	N90S	possibly damaging	Het
Clec16a	G	A	16: 10,549,543 (GRCm39)	C872Y	probably damaging	Het
Cobll1	A	T	2: 64,933,701 (GRCm39)	D430E	possibly damaging	Het
Cyp1a2	T	A	9: 57,589,794 (GRCm39)	I7F	probably benign	Het
Cyp2b23	G	A	7: 26,380,848 (GRCm39)	R126*	probably null	Het
Daam2	A	G	17: 49,787,782 (GRCm39)	W444R	possibly damaging	Het
Dcbld2	T	A	16: 58,275,621 (GRCm39)	C446S	probably damaging	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Het
Eif2d	T	C	1: 131,086,035 (GRCm39)	*177R	probably null	Het
Fkbp15	G	A	4: 62,246,114 (GRCm39)	A438V	probably damaging	Het
Gjb5	G	A	4: 127,249,652 (GRCm39)	A164V	probably benign	Het
Grin1	A	T	2: 25,188,285 (GRCm39)		probably null	Het
Grm3	A	G	5: 9,620,233 (GRCm39)	F337S	probably damaging	Het
Hey2	T	A	10: 30,710,019 (GRCm39)	T245S	probably benign	Het
Ifi206	T	C	1: 173,308,797 (GRCm39)	T400A	probably benign	Het
Itga7	G	A	10: 128,779,902 (GRCm39)	E480K	probably null	Het
Itpr1	T	C	6: 108,470,755 (GRCm39)	Y2227H	possibly damaging	Het
Krt8	T	C	15: 101,912,337 (GRCm39)	D113G	probably damaging	Het
Lgr6	C	T	1: 134,921,748 (GRCm39)	A199T	probably damaging	Het
Lins1	A	G	7: 66,357,843 (GRCm39)		probably benign	Het
Lnpep	A	G	17: 17,786,992 (GRCm39)	S536P	probably damaging	Het
Lrp1b	A	T	2: 40,620,716 (GRCm39)	C3587*	probably null	Het
Macf1	A	T	4: 123,290,917 (GRCm39)	D3435E	possibly damaging	Het
Mmp1b	T	C	9: 7,384,897 (GRCm39)	I251V	possibly damaging	Het
Myg1	A	T	15: 102,245,397 (GRCm39)	N206I	probably damaging	Het
Myl12a	T	G	17: 71,301,694 (GRCm39)	R144S	probably benign	Het
Myo5a	T	A	9: 75,055,179 (GRCm39)	I454K	probably damaging	Het
Nwd2	A	G	5: 63,965,051 (GRCm39)	D1545G	probably benign	Het
Ogdhl	T	G	14: 32,061,181 (GRCm39)	D457E	probably damaging	Het
Or5ac20	T	A	16: 59,104,704 (GRCm39)	D52V	probably damaging	Het
Or9s18	A	C	13: 65,300,588 (GRCm39)	L183F	probably damaging	Het
Paf1	A	G	7: 28,095,095 (GRCm39)	I112V	possibly damaging	Het
Pate7	T	A	9: 35,689,407 (GRCm39)		probably null	Het
Pcdhga4	C	T	18: 37,819,798 (GRCm39)	P449L	probably damaging	Het
Pla2g6	A	T	15: 79,183,342 (GRCm39)	I495N	possibly damaging	Het
Ptgs1	A	G	2: 36,127,234 (GRCm39)	Y40C	probably damaging	Het
Ptprn2	A	T	12: 117,148,267 (GRCm39)	I676F	probably damaging	Het
Rev3l	T	C	10: 39,700,927 (GRCm39)	L1808P	possibly damaging	Het
Sall2	A	G	14: 52,550,586 (GRCm39)	S868P	probably damaging	Het
Shoc1	A	T	4: 59,049,017 (GRCm39)	M1116K	probably benign	Het
Slc47a2	A	G	11: 61,198,412 (GRCm39)	F428L	probably benign	Het
Slco1a7	C	T	6: 141,681,826 (GRCm39)		probably null	Het
Slco3a1	A	T	7: 73,934,363 (GRCm39)	F603Y	possibly damaging	Het
Smyd2	A	T	1: 189,642,090 (GRCm39)	C65*	probably null	Het
Ssu72	T	C	4: 155,800,007 (GRCm39)	F57L	probably damaging	Het
Tanc2	A	G	11: 105,813,709 (GRCm39)	T1718A	probably benign	Het
Tnks	G	C	8: 35,432,720 (GRCm39)	P34A	unknown	Het
Top3a	G	A	11: 60,653,348 (GRCm39)	T42I	probably damaging	Het
Trank1	T	C	9: 111,220,369 (GRCm39)	S2369P	probably damaging	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Ubqln1	T	C	13: 58,330,997 (GRCm39)	Q410R	probably damaging	Het
Vmn2r11	A	G	5: 109,207,224 (GRCm39)	I32T	possibly damaging	Het
Xcr1	A	G	9: 123,685,375 (GRCm39)	F129S	probably benign	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
R3953: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
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'- ACACACCCTGGTAGGATGAG -3'
(R):5'- CTCCACAACAGGGAAGGGTTAG -3'

Sequencing Primer
(F):5'- CCCTGGTAGGATGAGGTGGAG -3'
(R):5'- GGAAGCACATCCTTTTCCAATC -3'

Posted On

2016-09-01