Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02606:Lmod1'

300291

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Lmod1

Ensembl Gene

ENSMUSG00000048096

Gene Name

leiomodin 1 (smooth muscle)

Synonyms

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

Accession Numbers

Essential gene?

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

Stock #

IGL02606

Quality Score

Status

Chromosome

Chromosomal Location

135252551-135295803 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 135292218 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 358 (V358M)

Ref Sequence

ENSEMBL: ENSMUSP00000061597 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000059352
AA Change: V358M

PolyPhen 2 Score 0.095 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000061597
Gene: ENSMUSG00000048096
AA Change: V358M

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

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921539E11Rik	T	A	4: 103,099,978 (GRCm39)	N74I	probably benign	Het
Abr	T	C	11: 76,369,990 (GRCm39)	K75R	probably damaging	Het
Adcy10	A	C	1: 165,347,087 (GRCm39)	D368A	possibly damaging	Het
Alas1	A	G	9: 106,118,309 (GRCm39)		probably benign	Het
Alms1	T	A	6: 85,576,949 (GRCm39)	D168E	probably benign	Het
Ankar	C	T	1: 72,729,444 (GRCm39)	A82T	possibly damaging	Het
Atp2c2	C	T	8: 120,457,013 (GRCm39)	T205I	probably benign	Het
Atp9a	A	T	2: 168,494,588 (GRCm39)	L639Q	probably damaging	Het
Btf3l4	T	C	4: 108,675,411 (GRCm39)	D134G	probably benign	Het
Cacna1s	T	C	1: 136,007,257 (GRCm39)	C425R	probably damaging	Het
Cct6b	G	T	11: 82,627,271 (GRCm39)	T322N	probably damaging	Het
Col19a1	G	A	1: 24,573,197 (GRCm39)	R192*	probably null	Het
Cyp8b1	A	T	9: 121,744,801 (GRCm39)	F177Y	probably damaging	Het
Dnajc11	T	A	4: 152,063,941 (GRCm39)	N474K	probably benign	Het
Dusp16	T	C	6: 134,737,999 (GRCm39)	E13G	probably damaging	Het
Ephx2	T	C	14: 66,323,741 (GRCm39)	N397S	probably damaging	Het
Fancm	T	C	12: 65,122,913 (GRCm39)	V145A	possibly damaging	Het
Fiz1	A	G	7: 5,012,158 (GRCm39)	L120P	possibly damaging	Het
Galnt6	C	T	15: 100,612,100 (GRCm39)	V181M	probably damaging	Het
Ginm1	A	G	10: 7,646,163 (GRCm39)	V279A	probably damaging	Het
Gja10	T	G	4: 32,601,509 (GRCm39)	I292L	probably benign	Het
Gnb3	T	C	6: 124,814,378 (GRCm39)	S136G	probably benign	Het
Gramd1a	A	T	7: 30,833,940 (GRCm39)	V495E	probably damaging	Het
Il1rn	G	T	2: 24,235,462 (GRCm39)		probably benign	Het
Itpr3	A	G	17: 27,333,486 (GRCm39)		probably benign	Het
Kctd1	A	G	18: 15,195,937 (GRCm39)	S229P	possibly damaging	Het
Kdm4a	T	C	4: 118,017,486 (GRCm39)	T527A	probably benign	Het
Kif14	C	T	1: 136,424,331 (GRCm39)	A982V	probably damaging	Het
Klf6	A	G	13: 5,916,734 (GRCm39)	K293R	probably damaging	Het
Letmd1	A	G	15: 100,372,972 (GRCm39)	D92G	probably damaging	Het
Ndufs1	A	T	1: 63,199,011 (GRCm39)	D295E	probably damaging	Het
Nek4	A	G	14: 30,685,916 (GRCm39)	N283S	probably benign	Het
Nhsl1	A	G	10: 18,387,385 (GRCm39)	T220A	probably damaging	Het
Nucks1	T	A	1: 131,852,363 (GRCm39)	D71E	probably damaging	Het
Or4n4	T	C	14: 50,519,530 (GRCm39)	Y60C	probably damaging	Het
Or8g18	C	A	9: 39,149,490 (GRCm39)	V77F	probably damaging	Het
Pkhd1l1	A	G	15: 44,452,852 (GRCm39)	T3926A	probably benign	Het
Pptc7	T	A	5: 122,451,651 (GRCm39)		probably benign	Het
Prdm11	A	G	2: 92,805,948 (GRCm39)	V334A	probably benign	Het
Ptdss2	C	A	7: 140,732,911 (GRCm39)	C231*	probably null	Het
R3hdm1	C	T	1: 128,118,456 (GRCm39)	P570S	probably benign	Het
Rlbp1	T	C	7: 79,027,037 (GRCm39)	T208A	possibly damaging	Het
Rnaseh2a	T	G	8: 85,686,723 (GRCm39)	D142A	probably damaging	Het
Rufy4	C	T	1: 74,172,509 (GRCm39)		probably benign	Het
Tektl1	A	G	10: 78,584,300 (GRCm39)	Y372H	probably benign	Het
Tlcd4	G	T	3: 121,022,013 (GRCm39)	D128E	possibly damaging	Het
Ttn	A	G	2: 76,646,565 (GRCm39)	I11081T	possibly damaging	Het
Ubap2l	A	T	3: 89,945,735 (GRCm39)	S173R	probably damaging	Het
Vmn1r80	A	G	7: 11,926,959 (GRCm39)	N23S	probably damaging	Het
Vwce	C	A	19: 10,632,712 (GRCm39)		probably benign	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
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
R8407:Lmod1	UTSW	1	135,292,734 (GRCm39)	missense	possibly damaging	0.94
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

Posted On

2015-04-16