Mutagenetix > Incidental Mutation

Incidental Mutation 'R2208:Lmod3'

236775

Institutional Source

Beutler Lab

Gene Symbol

Lmod3

Ensembl Gene

ENSMUSG00000044086

Gene Name

leiomodin 3 (fetal)

Synonyms

5430424A14Rik

MMRRC Submission

040210-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.081) question?

Stock #

R2208 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

97215495-97229720 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 97224838 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 328 (I328V)

Ref Sequence

ENSEMBL: ENSMUSP00000093315 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000095655]

AlphaFold

E9QA62

Predicted Effect

probably benign
Transcript: ENSMUST00000095655
AA Change: I328V

PolyPhen 2 Score 0.065 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000093315
Gene: ENSMUSG00000044086
AA Change: I328V

Domain	Start	End	E-Value	Type
Pfam:Tropomodulin	8	177	1.2e-13	PFAM
PDB:1IO0\|A	248	406	9e-46	PDB
SCOP:d1a4ya_	261	358	1e-3	SMART
low complexity region	407	427	N/A	INTRINSIC

Meta Mutation Damage Score

0.0972

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.6%
20x: 96.0%

Validation Efficiency

98% (51/52)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the leiomodin family of proteins. This protein contains three actin-binding domains, a tropomyosin domain, a leucine-rich repeat domain, and a Wiskott-Aldrich syndrome protein homology 2 domain (WH2). Localization of this protein to the pointed ends of thin filaments has been observed, and there is evidence that this protein acts as a catalyst of actin nucleation, and is important to the organization of sarcomeric thin filaments in skeletal muscles. Mutations in this gene have been associated as one cause of Nemaline myopathy, as other genes have also been linked to this disorder. Nemaline myopathy is a disorder characterized by nonprogressive generalized muscle weakness and protein inclusions (nemaline bodies) in skeletal myofibers. Patients with mutations in this gene often present with a severe congenital form of the disorder. [provided by RefSeq, Jan 2015]
PHENOTYPE: Mice homozygous for an endonuclease-mediated mutation are runted and exhibit nemaline myopathy including a reduction in skeletal myofiber size, centrally nucleated skeletal muscle fibers, increase in skeletal muscle glycogen levels, and abnormal sarcomere and Z lines. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahnak	T	C	19: 8,995,096 (GRCm39)	V5460A	probably benign	Het
Bco2	A	G	9: 50,444,755 (GRCm39)	V517A	probably damaging	Het
Brca2	T	A	5: 150,455,809 (GRCm39)	D183E	probably damaging	Het
Ccdc142	T	C	6: 83,084,941 (GRCm39)		probably null	Het
Ccdc39	A	G	3: 33,895,327 (GRCm39)	L34P	probably damaging	Het
Cdc42bpb	T	A	12: 111,302,463 (GRCm39)	H198L	probably damaging	Het
Cdc73	T	A	1: 143,485,120 (GRCm39)	E516V	probably damaging	Het
Cep170b	T	A	12: 112,705,419 (GRCm39)	L1059Q	probably benign	Het
Chrm1	T	C	19: 8,655,463 (GRCm39)	L56P	probably damaging	Het
Clec4d	T	A	6: 123,242,314 (GRCm39)	V22D	probably damaging	Het
Cplane1	T	A	15: 8,223,887 (GRCm39)	N883K	probably benign	Het
Cyp2c39	T	C	19: 39,549,405 (GRCm39)	Y308H	possibly damaging	Het
Cyp2d12	T	C	15: 82,441,137 (GRCm39)	L141P	probably damaging	Het
Cyp4x1	G	T	4: 114,983,791 (GRCm39)	Q85K	probably benign	Het
Dpysl5	G	A	5: 30,948,941 (GRCm39)	D399N	probably damaging	Het
Enpp7	T	C	11: 118,879,588 (GRCm39)		probably benign	Het
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
Fitm2	T	A	2: 163,314,604 (GRCm39)		probably benign	Het
Gng10	T	A	4: 59,035,314 (GRCm39)	I26N	possibly damaging	Het
Gpr33	C	T	12: 52,070,236 (GRCm39)	V268I	probably benign	Het
Hmcn2	G	A	2: 31,270,309 (GRCm39)	C1182Y	probably damaging	Het
Kcnh8	GAGACCAACGAGCAGCTGATGCTTCAGA	GAGA	17: 53,032,934 (GRCm39)	74	probably benign	Het
Krt36	C	T	11: 99,993,765 (GRCm39)	V358M	probably damaging	Het
Lrp8	T	C	4: 107,712,987 (GRCm39)	V580A	probably damaging	Het
Masp2	T	C	4: 148,698,872 (GRCm39)	I651T	probably damaging	Het
Mnd1	C	A	3: 84,041,416 (GRCm39)	C62F	probably benign	Het
Msi2	A	T	11: 88,480,934 (GRCm39)	S118T	probably damaging	Het
Muc19	T	C	15: 91,755,747 (GRCm39)		noncoding transcript	Het
Nabp1	G	A	1: 51,516,773 (GRCm39)	R32*	probably null	Het
Nfix	CAAAAA	CAAAA	8: 85,442,876 (GRCm39)		probably null	Het
Nup88	T	C	11: 70,856,545 (GRCm39)	D196G	probably damaging	Het
Or11h4b	T	C	14: 50,919,020 (GRCm39)	I24V	probably benign	Het
Pax1	T	A	2: 147,207,722 (GRCm39)	I198N	probably damaging	Het
Pde3a	A	G	6: 141,196,073 (GRCm39)	E253G	probably damaging	Het
Phldb1	C	T	9: 44,607,428 (GRCm39)	R1192Q	probably damaging	Het
Pianp	C	A	6: 124,976,602 (GRCm39)	P137Q	probably damaging	Het
Prdm15	A	C	16: 97,600,464 (GRCm39)		probably null	Het
Ptprf	A	T	4: 118,126,369 (GRCm39)		probably benign	Het
Rfx7	A	G	9: 72,525,246 (GRCm39)	D812G	probably benign	Het
Rgs22	T	C	15: 36,050,378 (GRCm39)	T691A	probably benign	Het
Rundc3a	A	T	11: 102,292,914 (GRCm39)	S436C	probably damaging	Het
Sntb1	T	C	15: 55,769,714 (GRCm39)	T92A	possibly damaging	Het
Tars3	T	C	7: 65,332,596 (GRCm39)	S566P	probably damaging	Het
Tbc1d32	A	T	10: 56,026,888 (GRCm39)		probably null	Het
Tep1	T	C	14: 51,104,321 (GRCm39)	Q191R	probably benign	Het
Tmc2	C	A	2: 130,056,483 (GRCm39)		probably null	Het
Tns1	A	C	1: 74,118,399 (GRCm39)	I77S	probably damaging	Het
Trpd52l3	T	C	19: 29,981,646 (GRCm39)	W134R	probably damaging	Het
Vmn2r15	A	C	5: 109,445,309 (GRCm39)	N38K	possibly damaging	Het
Wdr90	A	T	17: 26,079,362 (GRCm39)	D257E	probably damaging	Het
Zbtb9	T	C	17: 27,193,098 (GRCm39)	C168R	possibly damaging	Het
Zfp1004	T	A	2: 150,035,065 (GRCm39)	V462E	probably benign	Het

Other mutations in Lmod3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00427:Lmod3	APN	6	97,229,258 (GRCm39)	missense	probably damaging	0.99
IGL00465:Lmod3	APN	6	97,224,822 (GRCm39)	missense	probably damaging	1.00
IGL01401:Lmod3	APN	6	97,229,513 (GRCm39)	missense	probably damaging	1.00
IGL02279:Lmod3	APN	6	97,224,633 (GRCm39)	missense	probably damaging	1.00
IGL02621:Lmod3	APN	6	97,215,796 (GRCm39)	utr 3 prime	probably benign
IGL03116:Lmod3	APN	6	97,224,156 (GRCm39)	missense	possibly damaging	0.92
Runted	UTSW	6	97,224,234 (GRCm39)	missense	probably damaging	1.00
R0086:Lmod3	UTSW	6	97,224,306 (GRCm39)	missense	probably damaging	1.00
R0627:Lmod3	UTSW	6	97,225,032 (GRCm39)	missense	probably damaging	0.96
R4038:Lmod3	UTSW	6	97,225,275 (GRCm39)	missense	probably benign	0.06
R4913:Lmod3	UTSW	6	97,224,125 (GRCm39)	splice site	probably null
R5867:Lmod3	UTSW	6	97,224,963 (GRCm39)	missense	probably damaging	1.00
R5905:Lmod3	UTSW	6	97,224,575 (GRCm39)	missense	probably damaging	1.00
R6035:Lmod3	UTSW	6	97,224,234 (GRCm39)	missense	probably damaging	1.00
R6035:Lmod3	UTSW	6	97,224,234 (GRCm39)	missense	probably damaging	1.00
R6183:Lmod3	UTSW	6	97,229,514 (GRCm39)	missense	probably damaging	1.00
R6210:Lmod3	UTSW	6	97,224,262 (GRCm39)	missense	probably damaging	1.00
R6527:Lmod3	UTSW	6	97,224,339 (GRCm39)	missense	probably benign	0.00
R7225:Lmod3	UTSW	6	97,224,345 (GRCm39)	missense	probably benign	0.34
R7531:Lmod3	UTSW	6	97,225,403 (GRCm39)	missense	probably benign	0.01
R7908:Lmod3	UTSW	6	97,225,434 (GRCm39)	missense	probably benign	0.05
R8022:Lmod3	UTSW	6	97,225,260 (GRCm39)	missense	probably benign
R8154:Lmod3	UTSW	6	97,224,941 (GRCm39)	missense	probably damaging	1.00
R8325:Lmod3	UTSW	6	97,224,379 (GRCm39)	missense	probably benign	0.06
R9149:Lmod3	UTSW	6	97,224,625 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGTTCCTGGTAAGCAGATTCG -3'
(R):5'- CGACATGAAGGAACTCAACCTG -3'

Sequencing Primer
(F):5'- CTGGTAAGCAGATTCGTTACCAC -3'
(R):5'- GGAACTCAACCTGAACAACATTG -3'

Posted On

2014-10-02