Mutagenetix > Incidental Mutation

Incidental Mutation 'R1906:Lmf1'

214408

Institutional Source

Beutler Lab

Gene Symbol

Lmf1

Ensembl Gene

ENSMUSG00000002279

Gene Name

lipase maturation factor 1

Synonyms

Tmem112, 2400010G15Rik

MMRRC Submission

039925-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1906 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

25798059-25881800 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 25831309 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 185 (I185N)

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: I185N

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000066682
Gene: ENSMUSG00000002279
AA Change: I185N

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: I185N

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000112340
Gene: ENSMUSG00000002279
AA Change: I185N

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: ENSMUST00000127280

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128146

Predicted Effect

probably benign
Transcript: ENSMUST00000137201

Predicted Effect

unknown
Transcript: ENSMUST00000154842
AA Change: I181N

SMART Domains

Protein: ENSMUSP00000119563
Gene: ENSMUSG00000002279
AA Change: I181N

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156868

Coding Region Coverage

1x: 97.3%
3x: 96.7%
10x: 94.9%
20x: 91.5%

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aass	G	A	6: 23,072,984 (GRCm39)	T923I	probably benign	Het
Abhd13	T	A	8: 10,038,170 (GRCm39)	C256S	probably benign	Het
Adamts5	C	T	16: 85,665,573 (GRCm39)	W576*	probably null	Het
Adnp	A	T	2: 168,024,287 (GRCm39)	S1003T	probably benign	Het
AI987944	C	T	7: 41,024,550 (GRCm39)	R146Q	probably benign	Het
Apol6	G	T	15: 76,935,060 (GRCm39)	V110F	probably damaging	Het
Arhgap27	A	G	11: 103,223,751 (GRCm39)	F651L	probably damaging	Het
Atm	T	C	9: 53,417,868 (GRCm39)	D813G	probably damaging	Het
Casd1	T	A	6: 4,641,979 (GRCm39)	I752N	probably damaging	Het
Cdr2	A	G	7: 120,581,224 (GRCm39)	Y18H	probably damaging	Het
Cntn4	T	C	6: 106,330,607 (GRCm39)	F75S	probably benign	Het
Col20a1	G	A	2: 180,640,490 (GRCm39)	R549H	probably benign	Het
Col28a1	A	T	6: 7,999,644 (GRCm39)	N1024K	probably benign	Het
Dnah10	T	A	5: 124,878,048 (GRCm39)	V2654D	probably damaging	Het
Dnph1	A	T	17: 46,807,787 (GRCm39)	I18F	probably damaging	Het
Dsn1	G	A	2: 156,838,163 (GRCm39)	R334W	probably damaging	Het
Egf	T	A	3: 129,518,873 (GRCm39)	K325N	probably benign	Het
Eps15	T	G	4: 109,181,398 (GRCm39)	S311A	possibly damaging	Het
Fmo3	G	T	1: 162,794,475 (GRCm39)	D198E	probably damaging	Het
Folh1	C	G	7: 86,391,374 (GRCm39)		probably null	Het
Foxn1	A	G	11: 78,262,636 (GRCm39)		probably null	Het
Gm10604	T	G	4: 11,979,989 (GRCm39)	D105A	unknown	Het
Gpx8	A	G	13: 113,182,110 (GRCm39)	C108R	probably damaging	Het
Herc2	A	T	7: 55,764,612 (GRCm39)	I1013L	probably benign	Het
Hyal4	T	G	6: 24,756,110 (GRCm39)	N109K	probably damaging	Het
Il22ra1	T	G	4: 135,478,544 (GRCm39)	C538W	probably damaging	Het
Ints13	A	T	6: 146,453,868 (GRCm39)		probably null	Het
Krt75	T	A	15: 101,481,801 (GRCm39)	T156S	possibly damaging	Het
Lama2	A	C	10: 26,932,523 (GRCm39)		probably null	Het
Lifr	G	T	15: 7,217,612 (GRCm39)	V847L	probably damaging	Het
Mast1	G	A	8: 85,642,895 (GRCm39)	R967C	probably damaging	Het
Ms4a15	T	C	19: 10,960,644 (GRCm39)	I94V	probably benign	Het
Mycbpap	A	T	11: 94,396,447 (GRCm39)	M131K	probably benign	Het
Ncor1	A	T	11: 62,240,211 (GRCm39)	M920K	possibly damaging	Het
Neb	A	G	2: 52,198,538 (GRCm39)	Y437H	probably damaging	Het
Npy5r	A	T	8: 67,134,125 (GRCm39)	W223R	probably damaging	Het
Or10ak11	G	A	4: 118,687,467 (GRCm39)	H56Y	probably damaging	Het
Or10x4	C	A	1: 174,218,730 (GRCm39)	L32M	probably damaging	Het
Or4c114	A	G	2: 88,905,414 (GRCm39)	V7A	possibly damaging	Het
Or6c6c	T	G	10: 129,541,365 (GRCm39)	V206G	probably benign	Het
Polg	T	C	7: 79,110,070 (GRCm39)	K353E	probably damaging	Het
Proz	C	G	8: 13,123,686 (GRCm39)		probably null	Het
Pus7	T	C	5: 23,983,209 (GRCm39)	D86G	probably damaging	Het
Rhpn1	T	C	15: 75,583,673 (GRCm39)	V386A	probably benign	Het
Rigi	T	C	4: 40,206,054 (GRCm39)	K846R	probably benign	Het
Sptbn4	A	G	7: 27,090,856 (GRCm39)		probably null	Het
Srp68	A	T	11: 116,141,587 (GRCm39)	I424N	probably damaging	Het
Stard9	A	G	2: 120,526,908 (GRCm39)	E1055G	probably benign	Het
Taf4b	A	G	18: 14,955,159 (GRCm39)	I571V	probably benign	Het
Tas2r107	T	C	6: 131,636,951 (GRCm39)	M33V	probably benign	Het
Thap12	T	C	7: 98,365,947 (GRCm39)	L705P	probably damaging	Het
Tom1	T	C	8: 75,778,218 (GRCm39)	V100A	probably damaging	Het
Tox3	A	G	8: 90,975,057 (GRCm39)		probably benign	Het
Vmn2r82	A	G	10: 79,232,344 (GRCm39)	N781S	probably damaging	Het
Vwa5b1	A	T	4: 138,327,547 (GRCm39)	V343E	possibly damaging	Het
Zbbx	A	G	3: 74,979,047 (GRCm39)	Y467H	probably damaging	Het
Zbtb46	G	A	2: 181,065,632 (GRCm39)	R173W	probably damaging	Het
Zfp112	A	G	7: 23,821,720 (GRCm39)	D20G	probably benign	Het
Zfp777	A	C	6: 48,018,995 (GRCm39)	M313R	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
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'- GCCACTCAGAGCTCTGTATCTTG -3'
(R):5'- CCTGAGTTACTAGGTGTGTCC -3'

Sequencing Primer
(F):5'- GTATCTTGTTTCCTGTGAAGACAC -3'
(R):5'- GTGTGTCCTGAGGCCATCATTC -3'

Posted On

2014-07-14