Mutagenetix > Incidental Mutation

Incidental Mutation 'R1757:Lmf1'

195020

Institutional Source

Beutler Lab

Gene Symbol

Lmf1

Ensembl Gene

ENSMUSG00000002279

Gene Name

lipase maturation factor 1

Synonyms

Tmem112, 2400010G15Rik

MMRRC Submission

039789-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1757 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

25798059-25881800 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 25874184 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 403 (R403W)

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: R403W

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000066682
Gene: ENSMUSG00000002279
AA Change: R403W

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: R403W

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000112340
Gene: ENSMUSG00000002279
AA Change: R403W

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

0.6467

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.3%
20x: 92.4%

Validation Efficiency

100% (111/111)

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: 108 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd6	A	T	14: 8,049,867 (GRCm38)	I219F	probably damaging	Het
Acvr1b	A	G	15: 101,096,703 (GRCm39)	I207V	possibly damaging	Het
Adamtsl4	T	C	3: 95,585,252 (GRCm39)	T839A	probably benign	Het
Akap1	C	T	11: 88,736,578 (GRCm39)	R61H	probably damaging	Het
Akap9	A	G	5: 4,051,667 (GRCm39)	D1478G	probably benign	Het
Aloxe3	T	A	11: 69,026,775 (GRCm39)	V547E	possibly damaging	Het
Ano6	G	A	15: 95,860,148 (GRCm39)	A757T	probably damaging	Het
Armc10	A	G	5: 21,858,455 (GRCm39)	T167A	probably damaging	Het
BB019430	A	C	10: 58,539,869 (GRCm39)		noncoding transcript	Het
Brms1	C	T	19: 5,096,435 (GRCm39)	R82W	probably damaging	Het
Btnl6	G	A	17: 34,733,062 (GRCm39)	T267I	probably benign	Het
Catsper4	A	T	4: 133,945,212 (GRCm39)	F215L	probably benign	Het
Ccdc188	T	C	16: 18,036,552 (GRCm39)	F197S	probably damaging	Het
Cers5	A	C	15: 99,634,212 (GRCm39)	C379G	probably benign	Het
Chchd6	A	G	6: 89,361,626 (GRCm39)	L259P	probably damaging	Het
Cntnap2	T	A	6: 46,736,763 (GRCm39)	C730S	probably damaging	Het
Coch	T	G	12: 51,649,631 (GRCm39)	V314G	probably damaging	Het
Cog1	T	A	11: 113,543,130 (GRCm39)	S213T	possibly damaging	Het
Crot	A	T	5: 9,037,828 (GRCm39)	F163I	probably damaging	Het
Cyp4f13	A	T	17: 33,148,932 (GRCm39)	I162N	probably damaging	Het
Dab2	A	T	15: 6,359,933 (GRCm39)		probably benign	Het
Depdc1b	C	T	13: 108,460,482 (GRCm39)	R31W	probably damaging	Het
Dlk1	T	C	12: 109,425,613 (GRCm39)	F161S	probably damaging	Het
Dnah6	T	C	6: 73,137,965 (GRCm39)	E913G	probably damaging	Het
Dnajc6	A	G	4: 101,455,028 (GRCm39)	Y5C	probably damaging	Het
Dock10	T	C	1: 80,511,586 (GRCm39)	T1508A	probably damaging	Het
Dstyk	A	G	1: 132,361,832 (GRCm39)		probably benign	Het
Efcc1	T	C	6: 87,726,265 (GRCm39)		probably benign	Het
Entpd1	T	C	19: 40,727,450 (GRCm39)	Y533H	probably benign	Het
Epha8	A	T	4: 136,658,789 (GRCm39)		probably null	Het
Erich3	C	T	3: 154,401,402 (GRCm39)	T17M	probably damaging	Het
Ethe1	T	C	7: 24,307,899 (GRCm39)		probably benign	Het
Fbxw15	A	T	9: 109,386,347 (GRCm39)	M211K	probably damaging	Het
Fhod3	G	A	18: 25,199,335 (GRCm39)	V669M	possibly damaging	Het
Fktn	C	T	4: 53,747,003 (GRCm39)		probably benign	Het
Foxred1	G	A	9: 35,122,130 (GRCm39)	R20C	probably benign	Het
Gbp9	A	G	5: 105,242,319 (GRCm39)	L140P	probably damaging	Het
Gga1	T	C	15: 78,773,230 (GRCm39)	L286P	probably damaging	Het
Gml	T	C	15: 74,685,462 (GRCm39)		probably benign	Het
Gsap	A	T	5: 21,486,035 (GRCm39)	K628N	probably damaging	Het
Gtf3c4	G	A	2: 28,720,648 (GRCm39)		probably benign	Het
H2-M10.6	A	C	17: 37,124,043 (GRCm39)	Y169S	probably benign	Het
Hal	G	A	10: 93,330,490 (GRCm39)	V245I	probably benign	Het
Hebp2	T	C	10: 18,420,849 (GRCm39)	Y72C	probably damaging	Het
Helz2	T	C	2: 180,878,056 (GRCm39)	E914G	probably damaging	Het
Herc3	T	C	6: 58,893,455 (GRCm39)	Y906H	probably damaging	Het
Hfm1	A	T	5: 107,028,226 (GRCm39)		probably null	Het
Hgs	C	T	11: 120,370,889 (GRCm39)	P582S	probably damaging	Het
Hoxa10	G	A	6: 52,211,469 (GRCm39)	P149L	probably damaging	Het
Inpp5j	T	A	11: 3,454,738 (GRCm39)	Q4L	possibly damaging	Het
Ints8	A	C	4: 11,254,109 (GRCm39)	M1R	probably null	Het
Isg15	T	C	4: 156,284,447 (GRCm39)	E27G	possibly damaging	Het
Klf13	A	T	7: 63,541,513 (GRCm39)	C205S	probably damaging	Het
Lama1	A	T	17: 68,070,831 (GRCm39)	Y830F	probably benign	Het
Lama1	G	A	17: 68,004,378 (GRCm39)	V17M	unknown	Het
Lama3	A	G	18: 12,598,556 (GRCm39)	N988D	probably benign	Het
Lcat	CAT	C	8: 106,668,446 (GRCm39)		probably null	Het
Lct	G	T	1: 128,228,994 (GRCm39)	P833H	probably damaging	Het
Me3	T	G	7: 89,282,230 (GRCm39)	S38A	probably benign	Het
Myg1	A	T	15: 102,240,264 (GRCm39)	D30V	probably benign	Het
Nbea	A	G	3: 55,537,610 (GRCm39)	I2841T	possibly damaging	Het
Nek1	T	A	8: 61,542,847 (GRCm39)		probably null	Het
Obsl1	C	T	1: 75,470,527 (GRCm39)	R1043H	probably benign	Het
Or4p23	G	T	2: 88,576,361 (GRCm39)	D290E	probably benign	Het
Or5b119	A	C	19: 13,456,971 (GRCm39)	V197G	possibly damaging	Het
Or6n2	A	T	1: 173,897,224 (GRCm39)	Y120F	probably damaging	Het
Or9m2	T	G	2: 87,820,926 (GRCm39)	I157R	probably damaging	Het
Osbpl9	A	G	4: 108,921,780 (GRCm39)	Y613H	probably damaging	Het
Per3	C	T	4: 151,127,249 (GRCm39)		probably null	Het
Pex6	G	T	17: 47,034,424 (GRCm39)	V758L	probably damaging	Het
Pikfyve	A	G	1: 65,291,707 (GRCm39)	I1309V	probably damaging	Het
Pimreg	A	G	11: 71,933,985 (GRCm39)	E37G	possibly damaging	Het
Pjvk	G	A	2: 76,486,232 (GRCm39)	V211I	probably benign	Het
Plekhg4	T	A	8: 106,108,293 (GRCm39)	V1112E	probably damaging	Het
Ptprz1	T	A	6: 23,044,319 (GRCm39)	M2106K	probably damaging	Het
Rdh16f2	G	T	10: 127,712,765 (GRCm39)	L254F	probably benign	Het
Rictor	G	A	15: 6,803,343 (GRCm39)	R485Q	possibly damaging	Het
Rnf146	G	A	10: 29,223,475 (GRCm39)	T137M	probably damaging	Het
Rrp9	T	A	9: 106,360,203 (GRCm39)	C204S	probably damaging	Het
Rxylt1	T	C	10: 121,924,920 (GRCm39)	T261A	probably benign	Het
Serpinb9h	T	C	13: 33,583,336 (GRCm39)	S150P	probably benign	Het
Shkbp1	T	C	7: 27,041,776 (GRCm39)	T693A	probably benign	Het
Skint9	A	G	4: 112,271,159 (GRCm39)	Y84H	probably benign	Het
Slc22a12	A	T	19: 6,586,761 (GRCm39)		probably null	Het
Slfn4	T	C	11: 83,076,211 (GRCm39)	C26R	possibly damaging	Het
Snrnp200	T	C	2: 127,074,363 (GRCm39)	L1401P	probably damaging	Het
Specc1	T	A	11: 62,010,110 (GRCm39)		probably null	Het
Spef2	A	T	15: 9,717,568 (GRCm39)	M316K	probably damaging	Het
Tbc1d22b	A	G	17: 29,790,647 (GRCm39)	R204G	probably damaging	Het
Tektl1	T	C	10: 78,583,058 (GRCm39)	N442S	probably benign	Het
Tgfbr3l	C	A	8: 4,299,548 (GRCm39)	D110E	probably benign	Het
Ticrr	T	G	7: 79,325,071 (GRCm39)	S532R	probably damaging	Het
Ticrr	C	A	7: 79,328,794 (GRCm39)	Y644*	probably null	Het
Traf3ip1	A	T	1: 91,450,579 (GRCm39)	T509S	probably damaging	Het
Trmt10b	T	C	4: 45,307,946 (GRCm39)	Y209H	probably damaging	Het
Trmt6	T	C	2: 132,652,157 (GRCm39)	M172V	probably damaging	Het
Tsc1	A	G	2: 28,576,125 (GRCm39)	D978G	probably benign	Het
Tshz2	C	A	2: 169,725,843 (GRCm39)	F146L	probably benign	Het
Tspyl4	G	T	10: 34,173,576 (GRCm39)	E23*	probably null	Het
Ulk2	A	T	11: 61,732,165 (GRCm39)		probably benign	Het
Umodl1	A	T	17: 31,227,674 (GRCm39)	I1336F	probably damaging	Het
Vezt	T	C	10: 93,806,425 (GRCm39)	D662G	probably benign	Het
Vnn1	G	T	10: 23,776,727 (GRCm39)	Q359H	probably benign	Het
Vnn1	A	T	10: 23,776,726 (GRCm39)	Q359L	possibly damaging	Het
Zdhhc16	A	G	19: 41,930,394 (GRCm39)	N14S	probably damaging	Het
Zfp455	T	C	13: 67,355,601 (GRCm39)	S225P	probably damaging	Het
Zfp74	T	A	7: 29,634,486 (GRCm39)	E407D	probably benign	Het
Zic2	T	A	14: 122,716,031 (GRCm39)	H384Q	possibly 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
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
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'- TGGCTGGTGAGAAACAATTCCCC -3'
(R):5'- TACCTGGAAAGCTGCGAACCAC -3'

Sequencing Primer
(F):5'- TGAGAAACAATTCCCCCACCC -3'
(R):5'- CGGTTTGCACTTGAACTCATAG -3'

Posted On

2014-05-23