Mutagenetix > Incidental Mutations

Incidental Mutation 'R0815:Lipm'

78603

Institutional Source

Beutler Lab

Gene Symbol

Lipm

Ensembl Gene

ENSMUSG00000056078

Gene Name

lipase, family member M

Synonyms

Lipl3, 4632427C23Rik

MMRRC Submission

038995-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.491) question?

Stock #

R0815 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

34100943-34122687 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 34118761 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 326 (T326S)

Ref Sequence

ENSEMBL: ENSMUSP00000025685 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025685] [ENSMUST00000025686]

Predicted Effect

probably benign
Transcript: ENSMUST00000025685
AA Change: T326S

PolyPhen 2 Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000025685
Gene: ENSMUSG00000056078
AA Change: T326S

Domain	Start	End	E-Value	Type
Pfam:Abhydro_lipase	49	111	3.3e-26	PFAM
Pfam:Abhydrolase_1	92	393	2.6e-29	PFAM
Pfam:Abhydrolase_5	93	387	2.5e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000025686

SMART Domains

Protein: ENSMUSP00000025686
Gene: ENSMUSG00000024774

Domain	Start	End	E-Value	Type
ANK	39	68	1.1e-6	SMART
ANK	72	130	2.05e2	SMART
ANK	134	163	1.68e-2	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159887

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160474

Meta Mutation Damage Score

0.0591

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 96.5%
20x: 91.3%

Validation Efficiency

97% (58/60)

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700057G04Rik	A	T	9: 92,351,087	I88L	possibly damaging	Het
Abcb5	A	G	12: 118,901,449		probably benign	Het
Abcf2	A	T	5: 24,567,270	Y487N	probably damaging	Het
Adcy4	T	C	14: 55,783,599	Y27C	probably damaging	Het
Atp2a2	T	C	5: 122,471,236	I188V	probably benign	Het
Cacna1s	A	T	1: 136,112,957	I1231F	possibly damaging	Het
Capn7	T	A	14: 31,369,757	C704S	possibly damaging	Het
Celsr2	G	T	3: 108,401,301	T1770K	possibly damaging	Het
Chmp7	C	T	14: 69,719,450	M336I	probably benign	Het
Cul9	T	C	17: 46,537,822		probably null	Het
Dpp10	A	G	1: 123,432,929		probably null	Het
Dscaml1	A	G	9: 45,745,074	I1571V	probably benign	Het
Eif3j2	T	A	18: 43,476,971	Y259F	probably benign	Het
Erc2	A	C	14: 28,025,148	N345T	probably benign	Het
Fbxo21	T	C	5: 117,995,508		probably benign	Het
Frmd8	A	T	19: 5,865,056		probably benign	Het
Gfm1	T	C	3: 67,474,595	S705P	probably damaging	Het
Gucy1b2	T	C	14: 62,419,062	D282G	probably benign	Het
H2-Ab1	T	C	17: 34,267,354	I129T	probably damaging	Het
H2-M10.3	T	A	17: 36,366,690	Y232F	probably damaging	Het
Lrrc8c	T	C	5: 105,608,534	L725P	probably damaging	Het
Map3k19	A	G	1: 127,834,638		probably benign	Het
Med31	T	A	11: 72,213,831	N50I	probably damaging	Het
Mgea5	C	T	19: 45,782,986	A49T	probably benign	Het
Myo15b	T	G	11: 115,866,336		probably benign	Het
Nemp1	T	C	10: 127,693,024	L199S	probably damaging	Het
Nod2	G	A	8: 88,672,662		probably benign	Het
Olfr1444	A	G	19: 12,862,644	I290V	probably benign	Het
Olfr319	A	G	11: 58,702,609	R303G	possibly damaging	Het
Parva	G	A	7: 112,567,864	V215M	probably damaging	Het
Phf1	T	C	17: 26,937,140		probably benign	Het
Ppp1r12c	G	T	7: 4,486,366	Q240K	probably damaging	Het
Ralgapa1	A	T	12: 55,762,681	Y436*	probably null	Het
Ralgapa1	C	A	12: 55,782,777		probably benign	Het
Rbm11	C	T	16: 75,596,637	R74C	probably damaging	Het
Robo3	A	G	9: 37,422,183	V744A	probably damaging	Het
Rsbn1	T	G	3: 103,954,153	S522A	probably damaging	Het
Scel	T	A	14: 103,586,480	S381R	possibly damaging	Het
Sec31b	G	A	19: 44,518,173	Q909*	probably null	Het
Slc38a11	T	A	2: 65,353,780	I176L	possibly damaging	Het
Slc39a4	C	T	15: 76,612,639	D574N	probably damaging	Het
Slc44a1	T	G	4: 53,536,421	V199G	possibly damaging	Het
Sltm	A	G	9: 70,561,908	T150A	probably benign	Het
Son	C	A	16: 91,655,484	A373D	probably damaging	Het
Sp140	C	T	1: 85,620,051		probably benign	Het
Speg	A	G	1: 75,415,392	Y1606C	probably damaging	Het
Srgap1	A	T	10: 121,785,474	V1061D	probably damaging	Het
Stat5a	A	G	11: 100,875,082		probably null	Het
Supt4a	T	A	11: 87,737,583		probably benign	Het
Teddm1b	A	G	1: 153,874,892	K149R	possibly damaging	Het
Thnsl2	A	T	6: 71,134,224	L220*	probably null	Het
Tinf2	G	A	14: 55,680,109	P308S	probably benign	Het
Tmem131l	A	G	3: 83,940,572	S329P	probably benign	Het
Tnf	T	C	17: 35,201,144		probably benign	Het
Upp2	A	G	2: 58,771,556	T144A	probably benign	Het
Vmn2r94	T	G	17: 18,257,711	Q146P	probably damaging	Het
Zfhx4	T	A	3: 5,245,315	S919R	possibly damaging	Het

Other mutations in Lipm

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01624:Lipm	APN	19	34121145	missense	probably damaging	1.00
IGL01789:Lipm	APN	19	34118747	missense	probably damaging	1.00
IGL01878:Lipm	APN	19	34116511	missense	possibly damaging	0.63
IGL01897:Lipm	APN	19	34121308	missense	probably damaging	1.00
IGL02713:Lipm	APN	19	34101170	start codon destroyed	probably null	0.77
R0029:Lipm	UTSW	19	34116548	splice site	probably benign
R0352:Lipm	UTSW	19	34112875	splice site	probably benign
R0565:Lipm	UTSW	19	34116506	missense	probably benign	0.00
R1658:Lipm	UTSW	19	34116447	missense	probably benign
R2990:Lipm	UTSW	19	34116486	missense	probably benign	0.03
R4758:Lipm	UTSW	19	34101170	start codon destroyed	possibly damaging	0.59
R5446:Lipm	UTSW	19	34117887	missense	possibly damaging	0.92
R5468:Lipm	UTSW	19	34109554	splice site	probably null
R5905:Lipm	UTSW	19	34111911	missense	probably benign
R6066:Lipm	UTSW	19	34112974	missense	probably damaging	1.00
R6437:Lipm	UTSW	19	34121257	missense	probably damaging	1.00
R6722:Lipm	UTSW	19	34121265	missense	probably benign	0.00
R6927:Lipm	UTSW	19	34101163	start gained	probably benign
R7007:Lipm	UTSW	19	34112097	missense	probably damaging	1.00
R7031:Lipm	UTSW	19	34116471	missense	probably benign
R7081:Lipm	UTSW	19	34121323	missense	possibly damaging	0.90
R7092:Lipm	UTSW	19	34121358	missense	possibly damaging	0.75
R7419:Lipm	UTSW	19	34116481	missense	probably benign	0.09
R7426:Lipm	UTSW	19	34116198	missense	possibly damaging	0.56
R7772:Lipm	UTSW	19	34117891	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TTTGCCAAAAGAACCAGATTCACGC -3'
(R):5'- TCCCATGCCCTGCTGAAATGAAG -3'

Sequencing Primer
(F):5'- GATCTCTAAAGGGACTCCCAGTG -3'
(R):5'- CCTGCTGAAATGAAGGGTCTG -3'

Posted On

2013-10-16