Mutagenetix > Incidental Mutation

Incidental Mutation 'R8407:Lmod1'

652455

Institutional Source

Beutler Lab

Gene Symbol

Lmod1

Ensembl Gene

ENSMUSG00000048096

Gene Name

leiomodin 1 (smooth muscle)

Synonyms

9530015K06Rik, SM-Lmod, 1D, D1, 64kD D1

MMRRC Submission

067814-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.075) question?

Stock #

R8407 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

135252551-135295803 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 135292734 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Threonine at position 530 (P530T)

Ref Sequence

ENSEMBL: ENSMUSP00000061597 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000059352]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000059352
AA Change: P530T

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000061597
Gene: ENSMUSG00000048096
AA Change: P530T

Domain	Start	End	E-Value	Type
Pfam:Tropomodulin	5	127	1e-19	PFAM
low complexity region	177	190	N/A	INTRINSIC
low complexity region	202	220	N/A	INTRINSIC
PDB:1IO0\|A	296	467	5e-35	PDB
SCOP:d1a4ya_	311	445	7e-5	SMART
low complexity region	469	483	N/A	INTRINSIC
low complexity region	500	523	N/A	INTRINSIC
low complexity region	526	540	N/A	INTRINSIC
WH2	569	588	1.05e-3	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
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.] The leiomodin 1 protein has a putative membrane-spanning region and 2 types of tandemly repeated blocks. The transcript is expressed in all tissues tested, with the highest levels in thyroid, eye muscle, skeletal muscle, and ovary. Increased expression of leiomodin 1 may be linked to Graves' disease and thyroid-associated ophthalmopathy. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acly	T	C	11: 100,384,897 (GRCm39)	I629V	possibly damaging	Het
Ahnak	C	T	19: 8,993,037 (GRCm39)	P4774S	probably benign	Het
Arhgef12	C	T	9: 42,937,475 (GRCm39)		probably null	Het
BC048562	T	A	9: 108,315,631 (GRCm39)	S12R	possibly damaging	Het
Calhm2	G	A	19: 47,098,755 (GRCm39)	Q310*	probably null	Het
Celsr3	A	G	9: 108,706,256 (GRCm39)	E913G	probably damaging	Het
Cep68	T	C	11: 20,190,446 (GRCm39)	S189G	possibly damaging	Het
Cilp	C	A	9: 65,181,898 (GRCm39)	P336T	probably damaging	Het
Cnot4	A	G	6: 35,033,154 (GRCm39)	S288P	probably benign	Het
Cst13	T	C	2: 148,665,124 (GRCm39)	S40P	probably damaging	Het
Cyp4f37	A	T	17: 32,853,158 (GRCm39)	D374V	probably damaging	Het
Ddit3	A	G	10: 127,131,318 (GRCm39)	T37A	probably benign	Het
Dnah2	T	C	11: 69,350,104 (GRCm39)	N2343S	probably benign	Het
Emp3	G	A	7: 45,569,445 (GRCm39)	P32L	probably damaging	Het
Esyt1	G	T	10: 128,347,796 (GRCm39)	L965M	probably damaging	Het
Fbxw28	T	A	9: 109,155,269 (GRCm39)	I406L	probably benign	Het
Fgf10	A	G	13: 118,851,938 (GRCm39)	T7A	possibly damaging	Het
Frs3	A	T	17: 48,009,552 (GRCm39)	D11V	probably damaging	Het
Glmn	A	G	5: 107,718,057 (GRCm39)	S287P	probably benign	Het
Glyctk	C	T	9: 106,033,141 (GRCm39)	A291T	probably benign	Het
H2bc12	G	T	13: 22,220,217 (GRCm39)	G54V	probably damaging	Het
Ibtk	A	T	9: 85,603,119 (GRCm39)	F629I	possibly damaging	Het
Kcnh8	C	A	17: 53,212,101 (GRCm39)	A633E	probably damaging	Het
Kif24	T	C	4: 41,394,488 (GRCm39)	N929S	probably benign	Het
Ldlrap1	T	C	4: 134,484,736 (GRCm39)	K86R	probably damaging	Het
Lfng	G	A	5: 140,598,981 (GRCm39)	E297K	probably damaging	Het
Lnp1	A	T	16: 56,748,251 (GRCm39)	S14T	probably benign	Het
Map3k6	T	A	4: 132,974,904 (GRCm39)	Y646N	possibly damaging	Het
Mapk14	G	A	17: 28,963,983 (GRCm39)	V290I	probably benign	Het
Mrpl22	C	A	11: 58,066,156 (GRCm39)	Y83*	probably null	Het
Myh6	T	C	14: 55,201,388 (GRCm39)	N104D	probably benign	Het
Nalcn	T	A	14: 123,554,683 (GRCm39)	M903L	probably damaging	Het
Nfat5	C	T	8: 108,094,047 (GRCm39)	Q763*	probably null	Het
Or5w19	A	C	2: 87,698,437 (GRCm39)	Y34S	probably damaging	Het
Plin1	T	C	7: 79,373,051 (GRCm39)	D306G	probably benign	Het
Ppp1r12a	T	A	10: 108,076,042 (GRCm39)		probably null	Het
Prelid1	T	A	13: 55,470,672 (GRCm39)	H33Q	probably damaging	Het
Prkcz	C	T	4: 155,352,673 (GRCm39)	A485T	probably damaging	Het
Ptch1	T	C	13: 63,662,057 (GRCm39)	E1169G	probably null	Het
Rps19	C	A	7: 24,588,517 (GRCm39)	T181K	unknown	Het
Skic2	G	A	17: 35,060,103 (GRCm39)	A889V	probably benign	Het
Slc22a3	A	C	17: 12,640,368 (GRCm39)	C538G	probably benign	Het
Slc2a10	T	A	2: 165,356,787 (GRCm39)	F149Y	possibly damaging	Het
Smarcal1	A	G	1: 72,640,554 (GRCm39)	I516M	probably benign	Het
Smarcc2	T	A	10: 128,318,190 (GRCm39)	W601R	probably damaging	Het
Son	AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	16: 91,457,222 (GRCm39)		probably benign	Het
Srp68	A	G	11: 116,143,589 (GRCm39)	S369P	probably benign	Het
Tex2	C	T	11: 106,459,221 (GRCm39)	E70K	probably damaging	Het
Ticam2	A	G	18: 46,693,590 (GRCm39)	S166P	probably damaging	Het
Trpv5	A	G	6: 41,652,272 (GRCm39)	S138P	probably benign	Het
Ttll8	C	T	15: 88,798,741 (GRCm39)	V665I	probably benign	Het
Vmn2r81	T	C	10: 79,104,028 (GRCm39)	L217P	possibly damaging	Het
Zbtb4	T	C	11: 69,669,101 (GRCm39)	V608A	probably benign	Het
Zfp957	A	G	14: 79,451,352 (GRCm39)	V149A	possibly damaging	Het

Other mutations in Lmod1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00324:Lmod1	APN	1	135,292,216 (GRCm39)	missense	probably benign	0.05
IGL01104:Lmod1	APN	1	135,292,522 (GRCm39)	missense	probably damaging	1.00
IGL02606:Lmod1	APN	1	135,292,218 (GRCm39)	missense	probably benign	0.09
IGL03373:Lmod1	APN	1	135,292,264 (GRCm39)	missense	possibly damaging	0.90
R0513:Lmod1	UTSW	1	135,252,906 (GRCm39)	missense	probably damaging	0.98
R1185:Lmod1	UTSW	1	135,291,967 (GRCm39)	missense	probably benign
R1185:Lmod1	UTSW	1	135,291,967 (GRCm39)	missense	probably benign
R1185:Lmod1	UTSW	1	135,291,967 (GRCm39)	missense	probably benign
R1572:Lmod1	UTSW	1	135,291,671 (GRCm39)	missense	probably benign	0.00
R1728:Lmod1	UTSW	1	135,291,811 (GRCm39)	missense	probably benign	0.10
R1729:Lmod1	UTSW	1	135,291,811 (GRCm39)	missense	probably benign	0.10
R1730:Lmod1	UTSW	1	135,291,811 (GRCm39)	missense	probably benign	0.10
R1739:Lmod1	UTSW	1	135,291,811 (GRCm39)	missense	probably benign	0.10
R1762:Lmod1	UTSW	1	135,291,811 (GRCm39)	missense	probably benign	0.10
R1783:Lmod1	UTSW	1	135,291,811 (GRCm39)	missense	probably benign	0.10
R1784:Lmod1	UTSW	1	135,291,811 (GRCm39)	missense	probably benign	0.10
R1785:Lmod1	UTSW	1	135,291,811 (GRCm39)	missense	probably benign	0.10
R1795:Lmod1	UTSW	1	135,252,862 (GRCm39)	missense	probably damaging	1.00
R2044:Lmod1	UTSW	1	135,292,125 (GRCm39)	missense	probably benign	0.00
R2355:Lmod1	UTSW	1	135,292,253 (GRCm39)	missense	probably benign	0.28
R2568:Lmod1	UTSW	1	135,291,702 (GRCm39)	nonsense	probably null
R2937:Lmod1	UTSW	1	135,291,654 (GRCm39)	missense	probably benign	0.11
R2938:Lmod1	UTSW	1	135,291,654 (GRCm39)	missense	probably benign	0.11
R6108:Lmod1	UTSW	1	135,291,849 (GRCm39)	missense	probably benign	0.43
R6823:Lmod1	UTSW	1	135,252,905 (GRCm39)	missense	probably damaging	0.98
R6872:Lmod1	UTSW	1	135,292,879 (GRCm39)	missense	probably damaging	1.00
R7954:Lmod1	UTSW	1	135,252,794 (GRCm39)	missense	probably damaging	1.00
R8407:Lmod1	UTSW	1	135,291,763 (GRCm39)	missense	probably benign	0.01
R8527:Lmod1	UTSW	1	135,292,221 (GRCm39)	missense	possibly damaging	0.62
R8542:Lmod1	UTSW	1	135,292,221 (GRCm39)	missense	possibly damaging	0.62

Predicted Primers

PCR Primer
(F):5'- CCATTTTGAGCTGGCAGGAC -3'
(R):5'- TCAGCTGCTTAAGGTTGCTAG -3'

Sequencing Primer
(F):5'- GGATGACTGTCACCAATCTGC -3'
(R):5'- CTTAAGGTTGCTAGAACGGATGGC -3'

Posted On

2020-10-20