Mutagenetix > Incidental Mutation

Incidental Mutation 'R4968:Lmf1'

384226

Institutional Source

Beutler Lab

Gene Symbol

Lmf1

Ensembl Gene

ENSMUSG00000002279

Gene Name

lipase maturation factor 1

Synonyms

Tmem112, 2400010G15Rik

MMRRC Submission

042564-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4968 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

25798059-25881800 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 25804592 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 90 (Y90C)

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: Y90C

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000066682
Gene: ENSMUSG00000002279
AA Change: Y90C

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: Y90C

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000112340
Gene: ENSMUSG00000002279
AA Change: Y90C

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

noncoding transcript
Transcript: ENSMUST00000126164

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127280

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128146

Predicted Effect

probably benign
Transcript: ENSMUST00000137201

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142264

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156868

Predicted Effect

unknown
Transcript: ENSMUST00000154842
AA Change: Y86C

SMART Domains

Protein: ENSMUSP00000119563
Gene: ENSMUSG00000002279
AA Change: Y86C

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

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.6%

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810021J22Rik	A	T	11: 58,769,616 (GRCm39)	K53*	probably null	Het
4921513D11Rik	T	C	17: 79,935,651 (GRCm39)	S255P	probably benign	Het
Ace	A	G	11: 105,872,679 (GRCm39)	N367S	possibly damaging	Het
Agl	A	T	3: 116,582,175 (GRCm39)	N282K	probably benign	Het
Ahnak	C	A	19: 8,992,464 (GRCm39)	P4583T	probably damaging	Het
Alpi	T	C	1: 87,029,247 (GRCm39)	D4G	probably benign	Het
Anks6	C	T	4: 47,030,795 (GRCm39)	G601S	probably damaging	Het
Aplnr	T	C	2: 84,967,289 (GRCm39)	Y105H	probably damaging	Het
Arhgap9	G	A	10: 127,162,875 (GRCm39)	R395K	possibly damaging	Het
Asah1	A	G	8: 41,807,067 (GRCm39)	M119T		Het
Atp5f1b	T	C	10: 127,919,856 (GRCm39)	F75L	probably damaging	Het
B4galt6	G	T	18: 20,861,026 (GRCm39)	N75K	possibly damaging	Het
Bco1	A	T	8: 117,857,833 (GRCm39)	H486L	probably benign	Het
Btaf1	T	A	19: 36,947,351 (GRCm39)	L480Q	probably null	Het
Ccdc34	G	T	2: 109,871,078 (GRCm39)		probably null	Het
Cdh19	T	C	1: 110,852,958 (GRCm39)	S326G	probably benign	Het
Cep89	A	G	7: 35,109,055 (GRCm39)	D178G	possibly damaging	Het
Cyp11b2	A	T	15: 74,725,854 (GRCm39)		probably null	Het
Cyp21a1	A	G	17: 35,022,383 (GRCm39)	I157T	possibly damaging	Het
Dcbld2	A	G	16: 58,245,074 (GRCm39)	D116G	probably damaging	Het
Ddx5	T	C	11: 106,674,953 (GRCm39)	Q377R	probably damaging	Het
Deup1	T	C	9: 15,503,724 (GRCm39)	D279G	probably damaging	Het
F11	G	A	8: 45,698,770 (GRCm39)	A458V	probably benign	Het
Fhad1	C	A	4: 141,645,618 (GRCm39)	G326W	probably damaging	Het
Fhit	C	T	14: 10,421,522 (GRCm38)	V26M	probably damaging	Het
Gjb5	A	T	4: 127,250,015 (GRCm39)	V43E	probably damaging	Het
Grtp1	A	T	8: 13,242,184 (GRCm39)	I75N	probably damaging	Het
Hmcn1	A	G	1: 150,533,221 (GRCm39)	I3022T	possibly damaging	Het
Hsp90ab1	T	C	17: 45,881,962 (GRCm39)	T166A	probably benign	Het
Ift70b	T	C	2: 75,768,391 (GRCm39)	I121V	probably benign	Het
Iho1	C	T	9: 108,289,713 (GRCm39)	V170M	probably benign	Het
Ikbke	GCC	G	1: 131,203,004 (GRCm39)		probably null	Het
Kcnk10	T	C	12: 98,401,161 (GRCm39)	I491V	probably benign	Het
Kcp	A	T	6: 29,497,628 (GRCm39)	C519*	probably null	Het
Lcmt2	T	C	2: 120,970,217 (GRCm39)	T69A	probably benign	Het
Lpp	A	G	16: 24,798,064 (GRCm39)	D612G	probably damaging	Het
Lrfn5	C	A	12: 61,886,461 (GRCm39)	S83Y	probably damaging	Het
Lrp1b	T	C	2: 40,592,719 (GRCm39)		probably null	Het
Lrp1b	C	T	2: 41,679,074 (GRCm39)	C6Y	probably damaging	Het
Lrrc8c	A	G	5: 105,754,993 (GRCm39)	D256G	probably damaging	Het
Mphosph10	A	G	7: 64,032,656 (GRCm39)	Y478H	probably damaging	Het
Mpp2	T	C	11: 101,955,124 (GRCm39)	H167R	probably benign	Het
Mtss1	A	G	15: 58,815,767 (GRCm39)	S598P	probably damaging	Het
Myh10	A	G	11: 68,684,049 (GRCm39)	E1154G	probably damaging	Het
Myo10	T	C	15: 25,808,270 (GRCm39)	V1218A	probably damaging	Het
Myo19	A	G	11: 84,792,328 (GRCm39)	K599R	probably damaging	Het
Neurl4	T	C	11: 69,798,134 (GRCm39)	M771T	probably damaging	Het
Nlrc4	A	G	17: 74,753,936 (GRCm39)	V149A	probably benign	Het
Nup133	A	T	8: 124,641,935 (GRCm39)	S843T	probably benign	Het
Or2y1c	T	C	11: 49,361,358 (GRCm39)	C127R	probably damaging	Het
Or51k1	T	C	7: 103,661,777 (GRCm39)	N44S	probably damaging	Het
P3h2	A	G	16: 25,811,412 (GRCm39)		probably null	Het
Piezo2	A	T	18: 63,278,042 (GRCm39)	Y287*	probably null	Het
Prob1	T	C	18: 35,785,605 (GRCm39)	Y883C	probably damaging	Het
Pxdn	T	A	12: 30,050,011 (GRCm39)	H506Q	probably benign	Het
Ripor3	T	C	2: 167,827,037 (GRCm39)	D658G	probably benign	Het
Rufy1	T	A	11: 50,301,434 (GRCm39)	I333L	probably benign	Het
Selenok	T	A	14: 29,692,064 (GRCm39)	V34E	probably benign	Het
Selplg	T	C	5: 113,957,787 (GRCm39)	E173G	possibly damaging	Het
Septin10	A	G	10: 59,016,943 (GRCm39)	F194L	probably damaging	Het
Sptbn2	A	T	19: 4,779,230 (GRCm39)		probably null	Het
St6galnac6	C	T	2: 32,498,098 (GRCm39)	P6S	probably benign	Het
Syngr2	T	C	11: 117,704,296 (GRCm39)	Y194H	probably damaging	Het
Thbs4	A	G	13: 92,894,576 (GRCm39)	I649T	possibly damaging	Het
Triobp	T	A	15: 78,850,816 (GRCm39)	N323K	probably benign	Het
Tuba8	T	A	6: 121,197,548 (GRCm39)	L70Q	probably damaging	Het
Vmn2r61	A	G	7: 41,949,478 (GRCm39)	T633A	probably benign	Het
Zfp280b	G	T	10: 75,875,188 (GRCm39)	V356L	probably damaging	Het
Zswim4	A	T	8: 84,944,001 (GRCm39)	V746D	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
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'- AGCATCTCTTTATCCCACAGG -3'
(R):5'- CGTTGACCAGGGACATGTAG -3'

Sequencing Primer
(F):5'- ACAGGGACCCAGTTCCTACTTG -3'
(R):5'- ATGAGTATCATGTTGGCACAGCC -3'

Posted On

2016-04-27