Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00896:Lmf2'

29022

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Lmf2

Ensembl Gene

ENSMUSG00000022614

Gene Name

lipase maturation factor 2

Synonyms

Tmem153, Tmem112b

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.090) question?

Stock #

IGL00896

Quality Score

Status

Chromosome

Chromosomal Location

89351004-89355659 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 89353336 bp

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 308 (K308E)

Ref Sequence

ENSEMBL: ENSMUSP00000023283 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023283] [ENSMUST00000036987] [ENSMUST00000074552] [ENSMUST00000088717] [ENSMUST00000145259] [ENSMUST00000229111]

Predicted Effect

probably benign
Transcript: ENSMUST00000023283
AA Change: K308E

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000023283
Gene: ENSMUSG00000022614
AA Change: K308E

Domain	Start	End	E-Value	Type
transmembrane domain	12	34	N/A	INTRINSIC
transmembrane domain	87	109	N/A	INTRINSIC
Pfam:LMF1	122	589	5.6e-164	PFAM
low complexity region	679	693	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000036987

SMART Domains

Protein: ENSMUSP00000036900
Gene: ENSMUSG00000008690

Domain	Start	End	E-Value	Type
Pfam:DUF1032	20	576	N/A	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000074552

SMART Domains

Protein: ENSMUSP00000074139
Gene: ENSMUSG00000008690

Domain	Start	End	E-Value	Type
Pfam:DUF1032	51	607	N/A	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000088717

SMART Domains

Protein: ENSMUSP00000086095
Gene: ENSMUSG00000008690

Domain	Start	End	E-Value	Type
Pfam:CNDH2_N	11	123	1.2e-48	PFAM
Pfam:CNDH2_M	147	285	2.1e-20	PFAM
Pfam:CNDH2_C	308	598	1.9e-90	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123889

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141643

Predicted Effect

probably benign
Transcript: ENSMUST00000145259

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145793

Predicted Effect

probably benign
Transcript: ENSMUST00000229111

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229291

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229308

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229436

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230523

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231067

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230112

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231107

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	A	G	3: 37,039,462	T4352A	probably benign	Het
Adam6a	A	G	12: 113,545,410	T468A	possibly damaging	Het
Ankrd35	A	G	3: 96,684,276	E626G	probably damaging	Het
Arhgef4	A	G	1: 34,811,696	Y1812C	possibly damaging	Het
Aurkc	T	C	7: 7,002,514	Y260H	possibly damaging	Het
Cpb1	A	G	3: 20,252,029	V329A	probably benign	Het
Cyp2d11	G	T	15: 82,391,074		probably benign	Het
Dnase1	G	A	16: 4,039,212	S28N	probably benign	Het
Evpl	C	A	11: 116,222,584	E1427*	probably null	Het
Gimap6	T	C	6: 48,702,460	N214S	probably benign	Het
Htr1f	A	T	16: 64,926,106	H274Q	probably benign	Het
Ipo9	A	T	1: 135,400,059	V538E	probably damaging	Het
Mog	T	A	17: 37,017,485		probably null	Het
Myo19	T	C	11: 84,909,498	V903A	probably benign	Het
Myt1l	A	G	12: 29,826,886	T179A	unknown	Het
Nckap1	C	T	2: 80,580,953	V5M	possibly damaging	Het
Olfr382	T	C	11: 73,516,341	N286S	probably damaging	Het
Olfr459	A	T	6: 41,772,113	L62Q	probably damaging	Het
Olfr630	T	C	7: 103,755,006	D193G	probably damaging	Het
Pcdhb5	T	G	18: 37,322,785		probably null	Het
Pcm1	C	A	8: 41,276,123	Q711K	possibly damaging	Het
Pde6a	A	G	18: 61,220,792	D63G	possibly damaging	Het
Piezo1	T	C	8: 122,497,870	M711V	possibly damaging	Het
Prrxl1	C	T	14: 32,605,214		probably benign	Het
Rev1	G	A	1: 38,098,940	T88I	probably damaging	Het
Sntg1	A	T	1: 8,595,410		probably null	Het
Sult2a1	T	A	7: 13,832,640	T137S	probably benign	Het
Txndc15	G	A	13: 55,725,675	A283T	probably damaging	Het
Zswim8	A	G	14: 20,716,001	E785G	probably damaging	Het

Other mutations in Lmf2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00953:Lmf2	APN	15	89353899	missense	probably damaging	1.00
IGL00987:Lmf2	APN	15	89354568	missense	probably benign
IGL01069:Lmf2	APN	15	89352888	missense	probably benign	0.35
IGL01340:Lmf2	APN	15	89352872	missense	probably damaging	0.98
IGL01878:Lmf2	APN	15	89352418	missense	probably damaging	1.00
IGL02588:Lmf2	APN	15	89355406	splice site	probably null
IGL02698:Lmf2	APN	15	89354154	missense	probably damaging	1.00
BB003:Lmf2	UTSW	15	89352421	missense	probably damaging	1.00
BB013:Lmf2	UTSW	15	89352421	missense	probably damaging	1.00
PIT4651001:Lmf2	UTSW	15	89352069	missense	possibly damaging	0.58
R1761:Lmf2	UTSW	15	89352713	missense	possibly damaging	0.61
R2355:Lmf2	UTSW	15	89351763	missense	possibly damaging	0.65
R2880:Lmf2	UTSW	15	89351653	missense	possibly damaging	0.59
R4896:Lmf2	UTSW	15	89351800	missense	probably benign	0.16
R5141:Lmf2	UTSW	15	89351607	splice site	probably null
R6785:Lmf2	UTSW	15	89352033	missense	probably benign	0.43
R7301:Lmf2	UTSW	15	89355530	start gained	probably benign
R7926:Lmf2	UTSW	15	89352421	missense	probably damaging	1.00
R8110:Lmf2	UTSW	15	89352358	critical splice donor site	probably null
R8274:Lmf2	UTSW	15	89352663	missense	probably damaging	1.00
R8472:Lmf2	UTSW	15	89354802	missense	possibly damaging	0.80

Posted On

2013-04-17