Mutagenetix > Incidental Mutation

Incidental Mutation 'R3104:Lmod2'

262952

Institutional Source

Beutler Lab

Gene Symbol

Lmod2

Ensembl Gene

ENSMUSG00000029683

Gene Name

leiomodin 2 (cardiac)

Synonyms

C-Lmod

MMRRC Submission

040578-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.114) question?

Stock #

R3104 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

24597770-24605413 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 24604471 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Threonine at position 482 (K482T)

Ref Sequence

ENSEMBL: ENSMUSP00000031694 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031694]

AlphaFold

Q3UHZ5

Predicted Effect

probably damaging
Transcript: ENSMUST00000031694
AA Change: K482T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000031694
Gene: ENSMUSG00000029683
AA Change: K482T

Domain	Start	End	E-Value	Type
Pfam:Tropomodulin	6	153	9.7e-19	PFAM
PDB:1IO0\|A	202	360	5e-45	PDB
low complexity region	361	374	N/A	INTRINSIC
low complexity region	403	414	N/A	INTRINSIC
low complexity region	421	453	N/A	INTRINSIC
low complexity region	482	490	N/A	INTRINSIC

Meta Mutation Damage Score

0.1323

Coding Region Coverage

1x: 99.0%
3x: 98.4%
10x: 96.9%
20x: 93.8%

Validation Efficiency

100% (57/57)

MGI Phenotype

PHENOTYPE: Homozygous disruption of this gene results in thin filaments in the heart, cardiac contractile dysfunction, abnormal myocardial fiber ultrastucture, dilated cardiomyopathy, and premature death. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ash1l	T	A	3: 88,961,693 (GRCm39)	V2355E	probably damaging	Het
Baz2a	AGCGGCGGTACTTGCGGG	AG	10: 127,960,946 (GRCm39)		probably null	Het
Bmp4	G	A	14: 46,623,438 (GRCm39)	A36V	probably benign	Het
Ccdc191	T	C	16: 43,751,573 (GRCm39)	F301S	probably damaging	Het
Cdh9	T	C	15: 16,855,900 (GRCm39)	S647P	probably damaging	Het
Cntln	C	T	4: 84,875,406 (GRCm39)	T280M	possibly damaging	Het
Coch	A	G	12: 51,650,204 (GRCm39)	T398A	probably benign	Het
Col6a3	T	C	1: 90,744,024 (GRCm39)	R515G	probably damaging	Het
Csmd1	A	G	8: 17,077,247 (GRCm39)	Y137H	probably damaging	Het
Ctnnal1	G	A	4: 56,813,246 (GRCm39)	L662F	probably benign	Het
Cyp19a1	T	C	9: 54,094,083 (GRCm39)	I60V	probably benign	Het
Cyp2c68	C	T	19: 39,722,757 (GRCm39)	V264I	probably benign	Het
Dbx1	A	T	7: 49,286,417 (GRCm39)	L16H	probably damaging	Het
Dgkg	T	A	16: 22,394,091 (GRCm39)	T321S	probably damaging	Het
Dnah7c	T	A	1: 46,837,439 (GRCm39)	Y3951N	probably damaging	Het
Emc10	G	A	7: 44,142,616 (GRCm39)	R109W	probably damaging	Het
Fam124b	T	A	1: 80,190,748 (GRCm39)	I212F	probably damaging	Het
Fam187b	A	G	7: 30,676,665 (GRCm39)	D58G	probably benign	Het
Galnt4	T	C	10: 98,945,243 (GRCm39)	Y323H	probably benign	Het
Gfpt1	A	G	6: 87,034,628 (GRCm39)	D142G	probably benign	Het
Gm5174	A	G	10: 86,492,519 (GRCm39)		noncoding transcript	Het
Gtf2ird2	G	A	5: 134,237,756 (GRCm39)	D278N	probably benign	Het
Herc2	T	A	7: 55,785,103 (GRCm39)	D1480E	probably benign	Het
Hnf4g	T	G	3: 3,717,916 (GRCm39)	S388R	probably benign	Het
Il1rap	A	G	16: 26,541,502 (GRCm39)	E581G	probably benign	Het
Itpr2	A	T	6: 146,214,335 (GRCm39)		probably null	Het
Lgr6	A	G	1: 134,928,210 (GRCm39)		probably null	Het
Magi3	A	G	3: 103,958,636 (GRCm39)	V483A	probably damaging	Het
Ncam2	A	G	16: 81,262,598 (GRCm39)		probably benign	Het
Nphs1	C	A	7: 30,166,965 (GRCm39)	S724*	probably null	Het
Or5t9	T	C	2: 86,660,035 (GRCm39)	M313T	probably benign	Het
Osgep	T	C	14: 51,154,286 (GRCm39)	T225A	probably benign	Het
Pcdhgc5	A	G	18: 37,954,727 (GRCm39)	E667G	possibly damaging	Het
Plce1	C	T	19: 38,608,963 (GRCm39)	P424L	probably benign	Het
Plekhg5	C	T	4: 152,196,635 (GRCm39)	T694M	probably damaging	Het
Prkag2	T	A	5: 25,076,067 (GRCm39)	K233*	probably null	Het
Prune2	T	A	19: 17,096,520 (GRCm39)	S675T	probably damaging	Het
Sars1	C	T	3: 108,336,621 (GRCm39)	R302H	probably damaging	Het
Sfmbt1	G	A	14: 30,539,753 (GRCm39)	C847Y	probably damaging	Het
Sparcl1	T	C	5: 104,241,203 (GRCm39)	T74A	probably benign	Het
Sppl2b	A	G	10: 80,703,325 (GRCm39)	E529G	probably benign	Het
Stradb	C	A	1: 59,031,450 (GRCm39)	H212Q	possibly damaging	Het
Tkfc	G	T	19: 10,574,357 (GRCm39)	C198*	probably null	Het
Tm4sf4	C	T	3: 57,345,043 (GRCm39)	R150C	possibly damaging	Het
Tmem212	T	C	3: 27,939,019 (GRCm39)	S156G	probably damaging	Het
Tmem51	T	C	4: 141,765,035 (GRCm39)	N8D	probably damaging	Het
Tmigd1	A	G	11: 76,801,124 (GRCm39)	T204A	possibly damaging	Het
Tsga10	G	A	1: 37,840,872 (GRCm39)	L445F	probably damaging	Het
Unc80	G	A	1: 66,662,450 (GRCm39)	V1768I	probably benign	Het
Urb1	C	T	16: 90,592,331 (GRCm39)	V310I	probably damaging	Het
Usp29	T	A	7: 6,965,052 (GRCm39)	C298*	probably null	Het
Usp8	T	C	2: 126,600,432 (GRCm39)	V1050A	probably damaging	Het
Vmn1r38	T	C	6: 66,753,430 (GRCm39)	T229A	probably benign	Het
Yes1	T	C	5: 32,810,515 (GRCm39)	S195P	probably damaging	Het

Other mutations in Lmod2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00340:Lmod2	APN	6	24,598,051 (GRCm39)	missense	probably damaging	1.00
IGL01013:Lmod2	APN	6	24,604,134 (GRCm39)	missense	probably damaging	0.98
IGL02164:Lmod2	APN	6	24,603,909 (GRCm39)	missense	possibly damaging	0.89
IGL02328:Lmod2	APN	6	24,603,832 (GRCm39)	missense	probably benign	0.00
IGL02956:Lmod2	APN	6	24,603,631 (GRCm39)	missense	probably damaging	1.00
IGL03213:Lmod2	APN	6	24,603,615 (GRCm39)	missense	possibly damaging	0.88
IGL03351:Lmod2	APN	6	24,598,015 (GRCm39)	missense	probably benign	0.00
P0035:Lmod2	UTSW	6	24,597,885 (GRCm39)	missense	probably damaging	1.00
R1764:Lmod2	UTSW	6	24,603,376 (GRCm39)	missense	probably damaging	0.99
R3955:Lmod2	UTSW	6	24,603,870 (GRCm39)	missense	probably benign	0.02
R4410:Lmod2	UTSW	6	24,604,629 (GRCm39)	missense	probably damaging	1.00
R4876:Lmod2	UTSW	6	24,604,278 (GRCm39)	missense	probably benign	0.06
R4957:Lmod2	UTSW	6	24,603,871 (GRCm39)	missense	possibly damaging	0.63
R5509:Lmod2	UTSW	6	24,603,888 (GRCm39)	missense	probably damaging	1.00
R5655:Lmod2	UTSW	6	24,603,853 (GRCm39)	missense	possibly damaging	0.65
R6114:Lmod2	UTSW	6	24,603,691 (GRCm39)	missense	probably damaging	1.00
R6462:Lmod2	UTSW	6	24,604,300 (GRCm39)	missense	probably benign	0.06
R6834:Lmod2	UTSW	6	24,597,782 (GRCm39)	start gained	probably benign
R6869:Lmod2	UTSW	6	24,604,126 (GRCm39)	missense	probably benign	0.06
R6909:Lmod2	UTSW	6	24,604,157 (GRCm39)	missense	probably benign	0.00
R6918:Lmod2	UTSW	6	24,603,594 (GRCm39)	missense	probably benign	0.23
R7352:Lmod2	UTSW	6	24,598,110 (GRCm39)	missense	possibly damaging	0.84
R7425:Lmod2	UTSW	6	24,603,475 (GRCm39)	missense	probably benign
R7476:Lmod2	UTSW	6	24,597,920 (GRCm39)	nonsense	probably null
R7986:Lmod2	UTSW	6	24,603,448 (GRCm39)	missense	possibly damaging	0.65
R8417:Lmod2	UTSW	6	24,603,384 (GRCm39)	missense	possibly damaging	0.71
R9063:Lmod2	UTSW	6	24,603,364 (GRCm39)	missense	probably benign	0.01
R9286:Lmod2	UTSW	6	24,603,712 (GRCm39)	missense	probably damaging	1.00
R9326:Lmod2	UTSW	6	24,597,999 (GRCm39)	missense	probably damaging	1.00
R9461:Lmod2	UTSW	6	24,603,568 (GRCm39)	missense	probably benign	0.01
R9716:Lmod2	UTSW	6	24,604,182 (GRCm39)	missense	possibly damaging	0.83
R9780:Lmod2	UTSW	6	24,604,233 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCAAGAAAGTCCACACTGGGAG -3'
(R):5'- GTAACTTACCCTCCGTAGCTG -3'

Sequencing Primer
(F):5'- GAGCAGACCTCCATCTCCTGTG -3'
(R):5'- GTCTTATACTGCTCCCCCGAATGG -3'

Posted On

2015-02-05