Mutagenetix > Incidental Mutation

Incidental Mutation 'R7752:Lcmt1'

597301

Institutional Source

Beutler Lab

Gene Symbol

Lcmt1

Ensembl Gene

ENSMUSG00000030763

Gene Name

leucine carboxyl methyltransferase 1

Synonyms

Lcmt, LCMT-1

MMRRC Submission

045808-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7752 (G1)

Quality Score

86.0076

Status

Not validated

Chromosome

Chromosomal Location

122977026-123029581 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 122969030 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Isoleucine at position 8 (M8I)

Ref Sequence

ENSEMBL: ENSMUSP00000146184 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000098060] [ENSMUST00000106442] [ENSMUST00000167309] [ENSMUST00000205262] [ENSMUST00000205936] [ENSMUST00000206117] [ENSMUST00000206721] [ENSMUST00000207010]

AlphaFold

A0A0U1RNF2

Predicted Effect

probably benign
Transcript: ENSMUST00000098060

SMART Domains

Protein: ENSMUSP00000095668
Gene: ENSMUSG00000030766

Domain	Start	End	E-Value	Type
BAR	1	239	4.45e-65	SMART
RhoGAP	263	439	1.2e-60	SMART
low complexity region	554	595	N/A	INTRINSIC
low complexity region	624	640	N/A	INTRINSIC
low complexity region	644	664	N/A	INTRINSIC
low complexity region	683	704	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000106442

SMART Domains

Protein: ENSMUSP00000102050
Gene: ENSMUSG00000030766

Domain	Start	End	E-Value	Type
BAR	1	239	4.45e-65	SMART
RhoGAP	263	439	1.2e-60	SMART
low complexity region	542	557	N/A	INTRINSIC
low complexity region	570	582	N/A	INTRINSIC
low complexity region	632	673	N/A	INTRINSIC
low complexity region	702	718	N/A	INTRINSIC
low complexity region	722	742	N/A	INTRINSIC
low complexity region	761	782	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000167309

SMART Domains

Protein: ENSMUSP00000128447
Gene: ENSMUSG00000030766

Domain	Start	End	E-Value	Type
BAR	1	239	4.45e-65	SMART
RhoGAP	263	439	1.2e-60	SMART
low complexity region	542	557	N/A	INTRINSIC
low complexity region	570	582	N/A	INTRINSIC
low complexity region	632	673	N/A	INTRINSIC
low complexity region	702	718	N/A	INTRINSIC
low complexity region	722	742	N/A	INTRINSIC
low complexity region	761	782	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000205262

Predicted Effect

probably benign
Transcript: ENSMUST00000205936

Predicted Effect

probably benign
Transcript: ENSMUST00000206117

Predicted Effect

unknown
Transcript: ENSMUST00000206721
AA Change: M8I

Predicted Effect

probably benign
Transcript: ENSMUST00000207010

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] LCMT1 catalyzes the methylation of the carboxyl group of the C-terminal leucine residue (leu309) of the catalytic subunit of protein phosphatase-2A (PPP2CA; MIM 176915) (De Baere et al., 1999 [PubMed 10600115]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous for a gene trap allele are embryonic lethal. Mice homozygous for a hypomorphic gene trap allele exhibit partial embryonic lethality, insulin resistance and impaired glucose tolerance. Mice homozygous for a transgenic gene disruption exhibit kidney agenesis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agfg2	A	T	5: 137,665,966 (GRCm39)	F98I	probably damaging	Het
Akap13	T	A	7: 75,327,006 (GRCm39)	N668K	possibly damaging	Het
Aox4	G	A	1: 58,293,107 (GRCm39)	V868I	not run	Het
Ccdc39	T	C	3: 33,886,766 (GRCm39)	R281G	possibly damaging	Het
Ccnt1	A	T	15: 98,441,797 (GRCm39)	D490E	probably benign	Het
Cfhr2	T	A	1: 139,741,322 (GRCm39)	I218F	probably damaging	Het
Clcn4	T	C	7: 7,296,936 (GRCm39)	K234R	probably benign	Het
Col4a2	A	T	8: 11,479,358 (GRCm39)	D747V	probably benign	Het
Cplane1	A	G	15: 8,299,190 (GRCm39)	E3126G	unknown	Het
Csf1r	T	A	18: 61,243,368 (GRCm39)	L128Q	probably damaging	Het
Dcp1b	G	T	6: 119,152,318 (GRCm39)	R22L	possibly damaging	Het
Ddx6	T	G	9: 44,538,960 (GRCm39)	F256C	probably damaging	Het
Diras1	C	T	10: 80,857,895 (GRCm39)	V119M	probably damaging	Het
Ect2l	T	A	10: 18,017,712 (GRCm39)	D681V	possibly damaging	Het
Eme1	G	T	11: 94,541,645 (GRCm39)	P59Q	probably damaging	Het
Farp1	G	C	14: 121,495,359 (GRCm39)	E605Q	probably damaging	Het
Frem1	G	T	4: 82,877,614 (GRCm39)	T1321K	probably benign	Het
Gcn1	T	A	5: 115,753,627 (GRCm39)	L2326Q	probably damaging	Het
Gpld1	T	A	13: 25,146,758 (GRCm39)	V240E	probably damaging	Het
Gpr4	C	A	7: 18,956,340 (GRCm39)	H87Q	probably damaging	Het
Ifi213	A	T	1: 173,394,784 (GRCm39)	S584T	probably benign	Het
Il36b	C	T	2: 24,048,826 (GRCm39)	T77M	possibly damaging	Het
Inf2	A	G	12: 112,576,118 (GRCm39)	E865G	unknown	Het
Klk1b1	T	C	7: 43,620,669 (GRCm39)	I253T	probably damaging	Het
Mrs2	T	A	13: 25,202,549 (GRCm39)	D64V	possibly damaging	Het
Ms4a20	A	G	19: 11,079,224 (GRCm39)	I148T	probably benign	Het
Muc4	A	G	16: 32,589,108 (GRCm39)	Y755C		Het
Ncoa3	T	A	2: 165,907,688 (GRCm39)	L1099*	probably null	Het
Nlrp6	T	C	7: 140,507,353 (GRCm39)	V873A	possibly damaging	Het
Nup155	C	T	15: 8,145,926 (GRCm39)	P159L	possibly damaging	Het
Or10v1	A	T	19: 11,873,898 (GRCm39)	H171L	probably benign	Het
Or1ak2	A	T	2: 36,827,630 (GRCm39)	L166F	probably damaging	Het
Or4m1	A	T	14: 50,557,573 (GRCm39)	S240T	probably damaging	Het
Pex5	A	G	6: 124,380,860 (GRCm39)	S255P	probably damaging	Het
Pex5	T	C	6: 124,390,977 (GRCm39)	T58A	probably benign	Het
Phip	T	G	9: 82,772,203 (GRCm39)	M1115L	probably benign	Het
Ppl	T	G	16: 4,920,166 (GRCm39)	S410R	probably benign	Het
Ppp1r17	G	A	6: 55,999,441 (GRCm39)	D25N	probably damaging	Het
Pramel51	T	C	12: 88,142,769 (GRCm39)	E478G	probably damaging	Het
Prox2	T	A	12: 85,134,815 (GRCm39)	I489F	probably damaging	Het
Ptprb	C	G	10: 116,205,333 (GRCm39)	P1896A	probably benign	Het
Rgl2	T	C	17: 34,154,799 (GRCm39)	L601P	possibly damaging	Het
Sash1	C	T	10: 8,656,328 (GRCm39)	W221*	probably null	Het
Skint1	A	C	4: 111,876,399 (GRCm39)	T107P	probably damaging	Het
Slc41a2	A	G	10: 83,091,905 (GRCm39)	S453P	possibly damaging	Het
Sox11	A	T	12: 27,391,439 (GRCm39)	N323K	probably damaging	Het
Taf4	G	A	2: 179,573,822 (GRCm39)	T682M	probably damaging	Het
Thbd	C	A	2: 148,248,894 (GRCm39)	V325L	probably damaging	Het
Tmco5	T	C	2: 116,722,743 (GRCm39)	F288S	probably damaging	Het
Traj16	T	C	14: 54,440,645 (GRCm39)	Y19H	unknown	Het
Trip11	A	G	12: 101,853,233 (GRCm39)	V454A	probably benign	Het
Tsg101	G	T	7: 46,563,183 (GRCm39)	Q24K	probably benign	Het
Ttn	T	C	2: 76,555,370 (GRCm39)	E30545G	probably damaging	Het
Unkl	T	C	17: 25,437,627 (GRCm39)	S200P	probably damaging	Het
Vwa2	T	A	19: 56,897,672 (GRCm39)	I659N	probably damaging	Het
Wipf3	A	G	6: 54,458,896 (GRCm39)	I84V	probably benign	Het
Zfp592	T	G	7: 80,674,469 (GRCm39)	S478A	probably benign	Het
Zfp664	A	T	5: 124,962,839 (GRCm39)	K78*	probably null	Het
Zfp738	A	T	13: 67,821,110 (GRCm39)	L79*	probably null	Het
Zfyve28	C	T	5: 34,382,326 (GRCm39)	R258Q	probably damaging	Het

Other mutations in Lcmt1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01472:Lcmt1	APN	7	123,027,376 (GRCm39)	missense	probably damaging	1.00
IGL01536:Lcmt1	APN	7	123,021,966 (GRCm39)	missense	possibly damaging	0.46
IGL01564:Lcmt1	APN	7	123,003,663 (GRCm39)	missense	probably benign	0.00
IGL02598:Lcmt1	APN	7	123,020,871 (GRCm39)	splice site	probably benign
rancho	UTSW	7	123,000,718 (GRCm39)	missense	probably benign	0.03
relasso	UTSW	7	123,000,691 (GRCm39)	missense	probably damaging	1.00
R0665:Lcmt1	UTSW	7	123,002,094 (GRCm39)	missense	probably damaging	1.00
R0668:Lcmt1	UTSW	7	123,002,094 (GRCm39)	missense	probably damaging	1.00
R0943:Lcmt1	UTSW	7	123,000,662 (GRCm39)	splice site	probably null
R1574:Lcmt1	UTSW	7	123,002,131 (GRCm39)	missense	probably damaging	1.00
R1574:Lcmt1	UTSW	7	123,002,131 (GRCm39)	missense	probably damaging	1.00
R2896:Lcmt1	UTSW	7	123,020,809 (GRCm39)	missense	possibly damaging	0.95
R3017:Lcmt1	UTSW	7	123,029,359 (GRCm39)	missense	probably damaging	1.00
R3547:Lcmt1	UTSW	7	122,999,702 (GRCm39)	missense	probably benign	0.07
R3714:Lcmt1	UTSW	7	123,003,683 (GRCm39)	missense	probably damaging	0.98
R4092:Lcmt1	UTSW	7	123,017,476 (GRCm39)	missense	probably damaging	1.00
R4628:Lcmt1	UTSW	7	123,010,035 (GRCm39)	nonsense	probably null
R5062:Lcmt1	UTSW	7	123,010,053 (GRCm39)	splice site	probably null
R5096:Lcmt1	UTSW	7	123,000,691 (GRCm39)	missense	probably damaging	1.00
R5549:Lcmt1	UTSW	7	123,027,330 (GRCm39)	missense	probably damaging	1.00
R5573:Lcmt1	UTSW	7	123,000,686 (GRCm39)	missense	probably benign	0.03
R5931:Lcmt1	UTSW	7	123,020,839 (GRCm39)	missense	probably benign
R6331:Lcmt1	UTSW	7	122,977,405 (GRCm39)	intron	probably benign
R7784:Lcmt1	UTSW	7	123,000,718 (GRCm39)	missense	probably benign	0.03
R8447:Lcmt1	UTSW	7	123,020,825 (GRCm39)	missense	probably damaging	1.00
R8499:Lcmt1	UTSW	7	123,029,371 (GRCm39)	missense	probably benign	0.02
R8743:Lcmt1	UTSW	7	122,999,691 (GRCm39)	missense	probably damaging	1.00
R8962:Lcmt1	UTSW	7	123,000,669 (GRCm39)	missense	probably damaging	1.00
R9760:Lcmt1	UTSW	7	123,029,375 (GRCm39)	nonsense	probably null
RF013:Lcmt1	UTSW	7	122,969,059 (GRCm39)	frame shift	probably null
RF025:Lcmt1	UTSW	7	122,969,057 (GRCm39)	frame shift	probably null
RF046:Lcmt1	UTSW	7	122,969,057 (GRCm39)	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- TAAAGACCCTCGTGAGTCTCC -3'
(R):5'- CTTAACTCCGCCCATGTTGG -3'

Sequencing Primer
(F):5'- TGAGTCTCCCGAGGACGATG -3'
(R):5'- CTCTTTCGGCTAGGCTCGG -3'

Posted On

2019-11-26