Mutagenetix > Incidental Mutations

Incidental Mutation 'R7671:Lmf1'

592186

Institutional Source

Beutler Lab

Gene Symbol

Lmf1

Ensembl Gene

ENSMUSG00000002279

Gene Name

lipase maturation factor 1

Synonyms

Tmem112, 2400010G15Rik

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R7671 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

25579174-25662826 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 25579349 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 55 (V55M)

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: V55M

PolyPhen 2 Score 0.752 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000066682
Gene: ENSMUSG00000002279
AA Change: V55M

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: V55M

PolyPhen 2 Score 0.821 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000112340
Gene: ENSMUSG00000002279
AA Change: V55M

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

possibly damaging
Transcript: ENSMUST00000137201
AA Change: V55M

PolyPhen 2 Score 0.821 (Sensitivity: 0.84; Specificity: 0.93)

Predicted Effect

SMART Domains

Protein: ENSMUSP00000119563
Gene: ENSMUSG00000002279
AA Change: V51M

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: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610009O20Rik	T	A	18: 38,259,925	I394N	probably damaging	Het
4930435E12Rik	C	T	16: 38,828,091	D219N	possibly damaging	Het
4932438A13Rik	T	C	3: 36,943,231	F1146L	probably damaging	Het
4933406M09Rik	T	C	1: 134,390,062	C191R	probably benign	Het
Akap13	C	A	7: 75,569,900	T17K	probably damaging	Het
Ankrd29	T	A	18: 12,260,986	K257I	probably damaging	Het
Bicc1	A	G	10: 70,957,167	L219P	probably benign	Het
Boc	C	T	16: 44,491,849	V617M		Het
Ccl8	A	G	11: 82,115,207		probably benign	Het
Col18a1	A	G	10: 77,085,383	L261P	unknown	Het
Col5a3	T	A	9: 20,775,086		probably null	Het
Cryba4	A	C	5: 112,248,173		probably null	Het
Csf2rb	A	G	15: 78,338,930	Y114C	probably damaging	Het
Ctif	T	C	18: 75,472,016	D484G	probably damaging	Het
Ctnnal1	A	G	4: 56,837,848	F261L	probably damaging	Het
Defb22	A	T	2: 152,486,030	N78K	unknown	Het
Efr3a	G	A	15: 65,837,434		probably null	Het
Elp4	G	T	2: 105,904,481	A3E	probably damaging	Het
Emilin2	A	G	17: 71,273,910	V607A	probably benign	Het
Epsti1	A	G	14: 77,904,490	Y2C	probably damaging	Het
Fam81b	A	C	13: 76,271,293	L46R	probably damaging	Het
Fam81b	G	T	13: 76,271,294	L46I	possibly damaging	Het
Fbxo15	T	A	18: 84,964,153	H288Q	probably damaging	Het
Gabrg1	T	A	5: 70,815,980	N77I	probably damaging	Het
Ganab	A	G	19: 8,912,852	Y715C	possibly damaging	Het
Hist3h2ba	T	C	11: 58,949,276	S113P	possibly damaging	Het
Iqgap2	T	C	13: 95,628,119	D1539G	probably damaging	Het
Kcp	T	C	6: 29,496,517	N633S	probably benign	Het
Krt6a	C	A	15: 101,690,543	S529I	unknown	Het
Leo1	A	G	9: 75,445,562	H129R	probably benign	Het
Mcm9	A	G	10: 53,537,569	S472P	probably benign	Het
Med27	T	A	2: 29,377,938	V33D		Het
Mup15	C	T	4: 61,438,289	E80K	probably benign	Het
Myo18a	G	A	11: 77,859,420	R199H		Het
Nebl	T	A	2: 17,390,916	R558*	probably null	Het
Olfr1121	A	G	2: 87,372,269	T246A	probably damaging	Het
Olfr1252	A	T	2: 89,721,259	I284K	probably damaging	Het
Olfr1329	A	T	4: 118,916,986	H160Q	probably benign	Het
Olfr506	T	C	7: 108,612,991	I228T	probably damaging	Het
Olfr740	G	T	14: 50,453,885	V278L	probably benign	Het
Olfr815	T	C	10: 129,902,353	D119G	probably damaging	Het
Olfr890	A	T	9: 38,143,440	M97L	probably benign	Het
Pde11a	A	T	2: 76,215,353	F376I	possibly damaging	Het
Prima1	A	T	12: 103,235,661	C52S	probably damaging	Het
Pxn	G	A	5: 115,548,547	R366H	not run	Het
Sgce	T	C	6: 4,691,564	Y337C	probably damaging	Het
Slc25a10	T	A	11: 120,495,460	M130K	probably benign	Het
Slc29a2	A	T	19: 5,024,262	N5I	probably benign	Het
Slc35a1	A	T	4: 34,673,875	H150Q		Het
Slc5a4a	T	A	10: 76,147,550	V7D	unknown	Het
Stk17b	T	A	1: 53,766,000	D134V	probably damaging	Het
Thbs3	T	A	3: 89,216,707	S36T	probably benign	Het
Thsd4	A	G	9: 60,428,174	S152P	probably benign	Het
Tmem67	G	T	4: 12,063,698	H422N	probably benign	Het
Tram1	C	A	1: 13,589,644	V27F	probably damaging	Het
Trim14	A	G	4: 46,507,238	V326A	possibly damaging	Het

Other mutations in Lmf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03153:Lmf1	APN	17	25585650	missense	possibly damaging	0.51
R0117:Lmf1	UTSW	17	25655991	unclassified	probably benign
R1757:Lmf1	UTSW	17	25655210	missense	probably damaging	1.00
R1906:Lmf1	UTSW	17	25612335	missense	probably damaging	0.99
R2389:Lmf1	UTSW	17	25654471	missense	probably damaging	1.00
R2446:Lmf1	UTSW	17	25654471	missense	probably damaging	1.00
R3797:Lmf1	UTSW	17	25654471	missense	probably damaging	1.00
R3798:Lmf1	UTSW	17	25654471	missense	probably damaging	1.00
R3855:Lmf1	UTSW	17	25654471	missense	probably damaging	1.00
R3953:Lmf1	UTSW	17	25654471	missense	probably damaging	1.00
R3955:Lmf1	UTSW	17	25654471	missense	probably damaging	1.00
R3956:Lmf1	UTSW	17	25654471	missense	probably damaging	1.00
R4290:Lmf1	UTSW	17	25654481	missense	probably damaging	1.00
R4291:Lmf1	UTSW	17	25654481	missense	probably damaging	1.00
R4293:Lmf1	UTSW	17	25654481	missense	probably damaging	1.00
R4636:Lmf1	UTSW	17	25654471	missense	probably damaging	1.00
R4698:Lmf1	UTSW	17	25579350	missense	probably damaging	0.98
R4791:Lmf1	UTSW	17	25654471	missense	probably damaging	1.00
R4792:Lmf1	UTSW	17	25654471	missense	probably damaging	1.00
R4968:Lmf1	UTSW	17	25585618	missense	probably damaging	1.00
R4997:Lmf1	UTSW	17	25588676	nonsense	probably null
R5047:Lmf1	UTSW	17	25631838	intron	probably benign
R5152:Lmf1	UTSW	17	25655519	missense	probably damaging	0.99
R5419:Lmf1	UTSW	17	25662636	missense	possibly damaging	0.94
R6162:Lmf1	UTSW	17	25612394	missense	probably benign	0.00
R6693:Lmf1	UTSW	17	25645278	missense	probably benign	0.00
R7583:Lmf1	UTSW	17	25655449	missense
R7642:Lmf1	UTSW	17	25654471	missense	probably damaging	1.00
R7667:Lmf1	UTSW	17	25654608	critical splice donor site	probably null
R7818:Lmf1	UTSW	17	25662591	missense	probably benign	0.30
R8851:Lmf1	UTSW	17	25585706	nonsense	probably null
R9181:Lmf1	UTSW	17	25585744	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- ATACTGAAGCCACCACGGAG -3'
(R):5'- CATAAAGTTTAAGCAGCCACTGAG -3'

Sequencing Primer
(F):5'- AAGAGGTCCGCGTGTCATC -3'
(R):5'- GTGAGAAGGCGGGGTCC -3'

Posted On

2019-11-12