Mutagenetix > Incidental Mutation

Incidental Mutation 'R0086:Lmod3'

208399

Institutional Source

Beutler Lab

Gene Symbol

Lmod3

Ensembl Gene

ENSMUSG00000044086

Gene Name

leiomodin 3 (fetal)

Synonyms

5430424A14Rik

MMRRC Submission

038373-MU

Accession Numbers

Essential gene?

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

Stock #

R0086 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

97215495-97229720 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 97224306 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 505 (Q505L)

Ref Sequence

ENSEMBL: ENSMUSP00000093315 (fasta)

Gene Model

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

AlphaFold

E9QA62

Predicted Effect

probably damaging
Transcript: ENSMUST00000095655
AA Change: Q505L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000093315
Gene: ENSMUSG00000044086
AA Change: Q505L

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

0.0875

Coding Region Coverage

1x: 99.2%
3x: 98.0%
10x: 94.6%
20x: 86.6%

Validation Efficiency

96% (91/95)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930407I10Rik	T	A	15: 81,946,802 (GRCm39)	V233D	probably benign	Het
Abcg8	T	C	17: 85,000,199 (GRCm39)	V252A	probably damaging	Het
Adam39	C	T	8: 41,279,397 (GRCm39)	T596I	possibly damaging	Het
Agap2	C	A	10: 126,923,751 (GRCm39)		probably null	Het
Ap4b1	T	G	3: 103,722,176 (GRCm39)	V50G	probably damaging	Het
Atp13a1	T	A	8: 70,250,424 (GRCm39)	I381N	possibly damaging	Het
Bcl2	G	A	1: 106,640,292 (GRCm39)	R107C	probably damaging	Het
Birc6	T	C	17: 74,900,161 (GRCm39)	V1113A	possibly damaging	Het
C1galt1	T	A	6: 7,867,051 (GRCm39)		probably benign	Het
Capza2	A	G	6: 17,660,773 (GRCm39)	K158E	probably damaging	Het
Cenpe	C	T	3: 134,970,185 (GRCm39)		probably benign	Het
Cercam	T	C	2: 29,761,076 (GRCm39)	L42P	probably damaging	Het
Cfap54	T	C	10: 92,864,456 (GRCm39)	E807G	possibly damaging	Het
Cog6	A	G	3: 52,900,991 (GRCm39)	V157A	probably damaging	Het
Cts6	A	T	13: 61,344,271 (GRCm39)		probably benign	Het
Cyp2c39	A	T	19: 39,499,357 (GRCm39)	I15F	unknown	Het
Dock7	A	T	4: 98,833,381 (GRCm39)	V1970D	probably damaging	Het
Exph5	A	G	9: 53,249,230 (GRCm39)	D73G	possibly damaging	Het
Gjc2	A	T	11: 59,067,672 (GRCm39)	M270K	probably benign	Het
Gns	G	A	10: 121,227,378 (GRCm39)	D463N	probably damaging	Het
Hoxd8	G	T	2: 74,536,276 (GRCm39)	G129W	probably damaging	Het
Ina	A	G	19: 47,012,030 (GRCm39)	T483A	possibly damaging	Het
Map3k13	A	G	16: 21,732,975 (GRCm39)	N526D	probably damaging	Het
Map3k2	A	T	18: 32,351,521 (GRCm39)	I435F	probably damaging	Het
Mfsd6l	A	G	11: 68,447,391 (GRCm39)	T81A	probably benign	Het
Micall1	T	C	15: 79,009,689 (GRCm39)		probably benign	Het
Mkrn2	G	T	6: 115,590,296 (GRCm39)	M217I	possibly damaging	Het
Mtrex	G	T	13: 113,063,862 (GRCm39)	F10L	probably benign	Het
Myh11	C	A	16: 14,041,883 (GRCm39)	Q720H	probably damaging	Het
Ncapg	A	G	5: 45,834,086 (GRCm39)		probably null	Het
Nlrp9a	G	A	7: 26,257,972 (GRCm39)	C530Y	probably damaging	Het
Numb	T	C	12: 83,842,704 (GRCm39)	T442A	probably damaging	Het
Oip5	C	T	2: 119,448,410 (GRCm39)		probably benign	Het
Or1j14	A	T	2: 36,417,462 (GRCm39)	I13F	possibly damaging	Het
Or4c119	C	T	2: 88,986,820 (GRCm39)	R233H	probably benign	Het
Or51k1	A	G	7: 103,661,261 (GRCm39)	I216T	probably benign	Het
Or8g22	T	C	9: 38,958,191 (GRCm39)	T175A	probably benign	Het
Pcnx1	T	C	12: 82,038,832 (GRCm39)		probably benign	Het
Pkhd1l1	T	A	15: 44,419,404 (GRCm39)	N2956K	possibly damaging	Het
Plcl1	T	A	1: 55,754,742 (GRCm39)	W1030R	probably damaging	Het
Polr2i	G	A	7: 29,932,511 (GRCm39)	V73M	probably damaging	Het
Prr14l	T	A	5: 32,988,903 (GRCm39)		probably benign	Het
Pxdn	G	T	12: 30,052,418 (GRCm39)	R865L	possibly damaging	Het
Scnn1a	T	C	6: 125,319,550 (GRCm39)		probably benign	Het
Shkbp1	G	T	7: 27,051,451 (GRCm39)	H203N	probably benign	Het
Slc22a14	C	T	9: 119,051,804 (GRCm39)		probably benign	Het
Snap29	C	A	16: 17,246,100 (GRCm39)	T240K	probably damaging	Het
Sp2	C	A	11: 96,848,253 (GRCm39)	G457C	probably damaging	Het
Ssr2	C	T	3: 88,484,187 (GRCm39)		probably benign	Het
Synpo2	A	T	3: 122,910,753 (GRCm39)	C297*	probably null	Het
Tpm3	T	A	3: 89,997,399 (GRCm39)		probably benign	Het
Trmt6	CTG	C	2: 132,650,937 (GRCm39)		probably benign	Het
Trp63	T	C	16: 25,689,837 (GRCm39)	Y431H	probably damaging	Het
Tuba3b	T	A	6: 145,566,886 (GRCm39)	C376S	probably damaging	Het
Ubxn4	G	A	1: 128,190,641 (GRCm39)	E256K	probably benign	Het
Ulk1	G	A	5: 110,935,573 (GRCm39)		probably benign	Het
Usp24	T	C	4: 106,249,557 (GRCm39)	S1425P	probably damaging	Het
Xdh	T	C	17: 74,191,433 (GRCm39)	I1335V	probably benign	Het
Zmynd15	T	C	11: 70,355,058 (GRCm39)	Y352H	probably damaging	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
R0627:Lmod3	UTSW	6	97,225,032 (GRCm39)	missense	probably damaging	0.96
R2208:Lmod3	UTSW	6	97,224,838 (GRCm39)	missense	probably benign	0.06
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'- TGTGTCGGATGTCATTCAAGAGCTG -3'
(R):5'- GCTTACCAGGAACCAGGATAAACGG -3'

Sequencing Primer
(F):5'- ATGTCATTCAAGAGCTGGTCTC -3'
(R):5'- GTTGGGAGGACCCATGC -3'

Posted On

2014-06-25