Mutagenetix > Incidental Mutation

Incidental Mutation 'R6918:Lmod2'

539440

Institutional Source

Beutler Lab

Gene Symbol

Lmod2

Ensembl Gene

ENSMUSG00000029683

Gene Name

leiomodin 2 (cardiac)

Synonyms

C-Lmod

MMRRC Submission

045005-MU

Accession Numbers

Essential gene?

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

Stock #

R6918 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

24597770-24605413 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 24603594 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Tyrosine at position 190 (N190Y)

Ref Sequence

ENSEMBL: ENSMUSP00000031694 (fasta)

Gene Model

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

AlphaFold

Q3UHZ5

Predicted Effect

probably benign
Transcript: ENSMUST00000031694
AA Change: N190Y

PolyPhen 2 Score 0.226 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000031694
Gene: ENSMUSG00000029683
AA Change: N190Y

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

0.1806

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.2%

Validation Efficiency

100% (48/48)

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	A	C	17: 24,627,632 (GRCm39)	K1359Q	probably damaging	Het
Ace	T	C	11: 105,863,769 (GRCm39)	Y406H	probably damaging	Het
Acsl6	A	G	11: 54,232,582 (GRCm39)		probably null	Het
Alms1	T	A	6: 85,599,643 (GRCm39)	Y1959N	possibly damaging	Het
Chrna7	T	A	7: 62,809,299 (GRCm39)	I76F	probably benign	Het
Cuedc1	C	T	11: 88,077,899 (GRCm39)	T296I	probably benign	Het
Ddc	A	G	11: 11,769,307 (GRCm39)	V409A	probably damaging	Het
Dhx8	T	A	11: 101,629,247 (GRCm39)	Y212*	probably null	Het
Dnah6	T	A	6: 73,158,738 (GRCm39)	K622*	probably null	Het
Dscaml1	A	G	9: 45,341,805 (GRCm39)	H72R	probably benign	Het
Dyrk1b	A	G	7: 27,885,350 (GRCm39)	D396G	probably damaging	Het
Gstm2	A	G	3: 107,892,557 (GRCm39)		probably null	Het
Hsd3b1	A	G	3: 98,760,425 (GRCm39)	Y189H	probably damaging	Het
Kif1c	G	A	11: 70,597,813 (GRCm39)	E356K	probably damaging	Het
Kirrel2	A	C	7: 30,150,239 (GRCm39)	C17G	probably damaging	Het
Klhl12	A	G	1: 134,403,584 (GRCm39)	H259R	possibly damaging	Het
Krt1	A	G	15: 101,758,612 (GRCm39)	V184A	probably damaging	Het
Lrp2	A	C	2: 69,319,649 (GRCm39)	V1958G	probably damaging	Het
Ly6h	T	C	15: 75,437,507 (GRCm39)	S37G	probably damaging	Het
Man2a2	A	T	7: 80,002,940 (GRCm39)	H1056Q	possibly damaging	Het
Misp3	T	G	8: 84,738,313 (GRCm39)	M1L	probably benign	Het
Mixl1	T	A	1: 180,522,243 (GRCm39)	I213F	probably benign	Het
Morc3	T	C	16: 93,650,023 (GRCm39)	I268T	probably benign	Het
Mtx2	C	T	2: 74,706,697 (GRCm39)	T224I	probably damaging	Het
Or8c15	G	A	9: 38,120,948 (GRCm39)	V198M	possibly damaging	Het
Oscp1	A	C	4: 125,970,571 (GRCm39)	D120A	possibly damaging	Het
Parp1	G	A	1: 180,416,235 (GRCm39)	V545I	possibly damaging	Het
Pipox	A	G	11: 77,772,380 (GRCm39)	I330T	probably damaging	Het
Pkp2	A	G	16: 16,090,082 (GRCm39)	Y790C	probably damaging	Het
Pomt1	T	A	2: 32,142,873 (GRCm39)		probably null	Het
Pp2d1	G	A	17: 53,822,487 (GRCm39)	T193M	probably damaging	Het
Prkra	G	T	2: 76,460,797 (GRCm39)	H300Q	probably damaging	Het
Ror2	T	G	13: 53,265,487 (GRCm39)	N523T	probably damaging	Het
Rp1	A	T	1: 4,069,831 (GRCm39)	D1355E	unknown	Het
Rsph4a	T	C	10: 33,781,272 (GRCm39)	Y41H	probably benign	Het
Scn1a	T	A	2: 66,162,557 (GRCm39)	I230F	probably damaging	Het
Taar7e	T	A	10: 23,913,513 (GRCm39)	M1K	probably null	Het
Tex15	T	G	8: 34,063,212 (GRCm39)	L1155V	probably benign	Het
Tmprss3	T	C	17: 31,407,331 (GRCm39)	K321E	probably benign	Het
Trappc14	A	G	5: 138,258,926 (GRCm39)	V211A	probably benign	Het
Tsc2	A	T	17: 24,832,203 (GRCm39)	C728S	probably damaging	Het
Ube2e3	A	T	2: 78,750,383 (GRCm39)	K203M	probably damaging	Het
Unc50	A	T	1: 37,477,783 (GRCm39)	T222S	probably damaging	Het
Vmn1r236	A	T	17: 21,507,878 (GRCm39)	H332L	probably benign	Het
Vmn2r7	G	A	3: 64,598,760 (GRCm39)	T599I	probably benign	Het
Zfp334	A	T	2: 165,223,799 (GRCm39)	D81E	possibly damaging	Het
Zfp710	A	G	7: 79,731,788 (GRCm39)	I322V	possibly 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
R3104:Lmod2	UTSW	6	24,604,471 (GRCm39)	missense	probably damaging	1.00
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
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'- ACAGCGAAGTCTCTGAGGAG -3'
(R):5'- TGTTCTCCTTGAGAGCTTCAG -3'

Sequencing Primer
(F):5'- TCTCTGAGGAGGTGTGTACAGAAG -3'
(R):5'- TCCTTGAGAGCTTCAGCAAATCG -3'

Posted On

2018-11-06