Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00161:Synm'

1486

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Synm

Ensembl Gene

ENSMUSG00000030554

Gene Name

synemin, intermediate filament protein

Synonyms

Synemin, 4930412K21Rik, Dmn

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00161

Quality Score

Status

Chromosome

Chromosomal Location

67379909-67409490 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 67384663 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 558 (M558V)

Ref Sequence

ENSEMBL: ENSMUSP00000146510 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000051389] [ENSMUST00000074233] [ENSMUST00000207102] [ENSMUST00000208231] [ENSMUST00000208815]

AlphaFold

Q70IV5

Predicted Effect

probably benign
Transcript: ENSMUST00000051389
AA Change: M1000V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000050987
Gene: ENSMUSG00000030554
AA Change: M1000V

Domain	Start	End	E-Value	Type
Pfam:Filament	10	321	2.7e-38	PFAM
low complexity region	1248	1257	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000074233
AA Change: M1000V

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000073855
Gene: ENSMUSG00000030554
AA Change: M1000V

Domain	Start	End	E-Value	Type
Filament	10	321	6.4e-38	SMART
internal_repeat_1	1089	1185	3.03e-7	PROSPERO
internal_repeat_1	1351	1454	3.03e-7	PROSPERO
low complexity region	1550	1559	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000207102
AA Change: M558V

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

Predicted Effect

probably benign
Transcript: ENSMUST00000208231

Predicted Effect

probably benign
Transcript: ENSMUST00000208764

Predicted Effect

probably benign
Transcript: ENSMUST00000208815

Meta Mutation Damage Score

0.0898

Coding Region Coverage

Validation Efficiency

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 an intermediate filament (IF) family member. IF proteins are cytoskeletal proteins that confer resistance to mechanical stress and are encoded by a dispersed multigene family. This protein has been found to form a linkage between desmin, which is a subunit of the IF network, and the extracellular matrix, and provides an important structural support in muscle. Two alternatively spliced variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit a mild skeletal muscle phenotype characterized by abnormal muscle fiber morphology and increased sarcolemmal deformability and susceptibility to injury. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap13	T	A	7: 75,375,719 (GRCm39)	V1932E	probably damaging	Het
Alg3	A	G	16: 20,426,608 (GRCm39)	V211A	probably damaging	Het
Bsn	T	C	9: 107,992,309 (GRCm39)	T1148A	probably benign	Het
Dmbt1	G	T	7: 130,711,357 (GRCm39)	D1538Y	probably damaging	Het
Fbxl20	C	T	11: 97,981,500 (GRCm39)	G396D	possibly damaging	Het
Gsto2	A	G	19: 47,863,406 (GRCm39)	D94G	probably damaging	Het
Igf2r	T	C	17: 12,932,877 (GRCm39)	I882V	probably benign	Het
Ltbp1	C	T	17: 75,617,147 (GRCm39)		probably benign	Het
Men1	G	A	19: 6,387,237 (GRCm39)		probably null	Het
Nlrp1b	A	C	11: 71,072,007 (GRCm39)		probably benign	Het
Notch3	A	T	17: 32,377,088 (GRCm39)	C272*	probably null	Het
Or4c123	A	G	2: 89,126,799 (GRCm39)	C272R	probably benign	Het
Or8g26	A	G	9: 39,096,388 (GRCm39)	K305E	possibly damaging	Het
Pard3	A	G	8: 128,086,299 (GRCm39)		probably benign	Het
Pcsk4	A	G	10: 80,158,657 (GRCm39)	Y532H	probably damaging	Het
Pkd1l1	A	G	11: 8,879,353 (GRCm39)		probably null	Het
Potefam3e	T	C	8: 19,799,499 (GRCm39)		probably benign	Het
Prex1	A	G	2: 166,480,321 (GRCm39)	Y140H	probably damaging	Het
Ptpdc1	C	T	13: 48,740,534 (GRCm39)	R238Q	possibly damaging	Het
Rdx	A	G	9: 51,997,646 (GRCm39)	D540G	probably damaging	Het
Rnase10	T	G	14: 51,247,238 (GRCm39)	D168E	possibly damaging	Het
Slc30a5	A	C	13: 100,943,174 (GRCm39)	D561E	probably damaging	Het
Spag1	C	T	15: 36,195,562 (GRCm39)	R252*	probably null	Het
Spata31g1	A	T	4: 42,973,982 (GRCm39)	H1105L	probably benign	Het
Stox1	T	C	10: 62,503,692 (GRCm39)	E121G	probably damaging	Het
Tenm2	C	T	11: 36,097,726 (GRCm39)		probably benign	Het
Vmn1r64	T	C	7: 5,886,827 (GRCm39)	T239A	probably damaging	Het

Other mutations in Synm

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01567:Synm	APN	7	67,384,980 (GRCm39)	missense	probably damaging	0.99
IGL01867:Synm	APN	7	67,383,222 (GRCm39)	missense	probably benign	0.13
IGL01870:Synm	APN	7	67,385,866 (GRCm39)	missense	possibly damaging	0.86
IGL01951:Synm	APN	7	67,388,885 (GRCm39)	missense	probably damaging	1.00
IGL02264:Synm	APN	7	67,384,144 (GRCm39)	missense	probably damaging	0.99
IGL02892:Synm	APN	7	67,384,804 (GRCm39)	missense	probably damaging	1.00
PIT4449001:Synm	UTSW	7	67,385,025 (GRCm39)	missense	probably benign
R0032:Synm	UTSW	7	67,383,675 (GRCm39)	missense	possibly damaging	0.90
R0194:Synm	UTSW	7	67,384,672 (GRCm39)	missense	probably damaging	1.00
R0345:Synm	UTSW	7	67,385,569 (GRCm39)	missense	probably benign	0.13
R0453:Synm	UTSW	7	67,386,630 (GRCm39)	missense	possibly damaging	0.92
R0646:Synm	UTSW	7	67,408,916 (GRCm39)	missense	probably benign	0.07
R0847:Synm	UTSW	7	67,384,804 (GRCm39)	missense	probably damaging	1.00
R0919:Synm	UTSW	7	67,385,095 (GRCm39)	missense	probably damaging	1.00
R1484:Synm	UTSW	7	67,386,080 (GRCm39)	missense	probably damaging	1.00
R1700:Synm	UTSW	7	67,409,376 (GRCm39)	start codon destroyed	probably null	0.98
R1715:Synm	UTSW	7	67,386,051 (GRCm39)	missense	probably damaging	1.00
R1796:Synm	UTSW	7	67,383,748 (GRCm39)	missense	possibly damaging	0.77
R1799:Synm	UTSW	7	67,385,707 (GRCm39)	missense	probably damaging	1.00
R2116:Synm	UTSW	7	67,383,343 (GRCm39)	missense	probably benign	0.18
R2979:Synm	UTSW	7	67,386,008 (GRCm39)	missense	probably damaging	1.00
R4116:Synm	UTSW	7	67,384,405 (GRCm39)	missense	possibly damaging	0.50
R4172:Synm	UTSW	7	67,385,109 (GRCm39)	missense	probably damaging	1.00
R4981:Synm	UTSW	7	67,384,235 (GRCm39)	missense	probably benign	0.02
R5114:Synm	UTSW	7	67,385,406 (GRCm39)	missense	probably damaging	1.00
R5276:Synm	UTSW	7	67,384,437 (GRCm39)	missense	probably benign	0.08
R5446:Synm	UTSW	7	67,385,722 (GRCm39)	missense	probably benign	0.17
R5592:Synm	UTSW	7	67,409,264 (GRCm39)	missense	probably damaging	1.00
R5960:Synm	UTSW	7	67,385,494 (GRCm39)	missense	probably damaging	1.00
R6025:Synm	UTSW	7	67,384,686 (GRCm39)	missense	possibly damaging	0.78
R6034:Synm	UTSW	7	67,384,653 (GRCm39)	missense	probably damaging	1.00
R6034:Synm	UTSW	7	67,384,653 (GRCm39)	missense	probably damaging	1.00
R6445:Synm	UTSW	7	67,383,393 (GRCm39)	missense	probably benign
R6446:Synm	UTSW	7	67,384,714 (GRCm39)	missense	probably damaging	1.00
R6492:Synm	UTSW	7	67,385,809 (GRCm39)	missense	probably benign	0.00
R6526:Synm	UTSW	7	67,385,331 (GRCm39)	missense	possibly damaging	0.62
R6612:Synm	UTSW	7	67,383,264 (GRCm39)	missense	probably damaging	0.99
R6646:Synm	UTSW	7	67,384,875 (GRCm39)	missense	probably damaging	1.00
R6708:Synm	UTSW	7	67,382,994 (GRCm39)	missense	possibly damaging	0.72
R6957:Synm	UTSW	7	67,385,848 (GRCm39)	missense	probably benign	0.28
R6988:Synm	UTSW	7	67,383,406 (GRCm39)	missense	probably damaging	1.00
R7208:Synm	UTSW	7	67,384,663 (GRCm39)	missense	probably benign	0.01
R7320:Synm	UTSW	7	67,385,128 (GRCm39)	missense	possibly damaging	0.89
R7417:Synm	UTSW	7	67,382,954 (GRCm39)	makesense	probably null
R7425:Synm	UTSW	7	67,383,194 (GRCm39)	missense	probably damaging	0.99
R7468:Synm	UTSW	7	67,382,971 (GRCm39)	missense	unknown
R7733:Synm	UTSW	7	67,385,693 (GRCm39)	splice site	probably null
R7782:Synm	UTSW	7	67,384,714 (GRCm39)	missense	probably damaging	1.00
R7826:Synm	UTSW	7	67,385,337 (GRCm39)	missense	probably damaging	1.00
R7971:Synm	UTSW	7	67,384,983 (GRCm39)	missense	possibly damaging	0.74
R8177:Synm	UTSW	7	67,383,813 (GRCm39)	missense	probably benign	0.00
R8190:Synm	UTSW	7	67,383,654 (GRCm39)	missense	probably benign
R8225:Synm	UTSW	7	67,408,797 (GRCm39)	missense	probably benign	0.16
R8414:Synm	UTSW	7	67,383,511 (GRCm39)	missense	probably benign	0.12
R8880:Synm	UTSW	7	67,386,456 (GRCm39)	missense	possibly damaging	0.84
R8978:Synm	UTSW	7	67,384,672 (GRCm39)	missense	probably damaging	1.00
R9027:Synm	UTSW	7	67,384,440 (GRCm39)	missense	probably damaging	1.00
R9089:Synm	UTSW	7	67,408,766 (GRCm39)	missense	probably damaging	0.97
R9281:Synm	UTSW	7	67,386,048 (GRCm39)	nonsense	probably null
R9430:Synm	UTSW	7	67,383,181 (GRCm39)	missense	possibly damaging	0.95
R9732:Synm	UTSW	7	67,385,652 (GRCm39)	missense	probably damaging	1.00
Z1088:Synm	UTSW	7	67,401,634 (GRCm39)	missense	probably damaging	1.00

Posted On

2011-07-12