Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01870:Synm'

178671

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Synm

Ensembl Gene

ENSMUSG00000030554

Gene Name

synemin, intermediate filament protein

Synonyms

4930412K21Rik, Dmn, Synemin

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01870

Quality Score

Status

Chromosome

Chromosomal Location

67730160-67759742 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 67736118 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 157 (S157P)

Ref Sequence

ENSEMBL: ENSMUSP00000146510 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000051389
AA Change: S599P

PolyPhen 2 Score 0.740 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000050987
Gene: ENSMUSG00000030554
AA Change: S599P

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000074233
AA Change: S599P

PolyPhen 2 Score 0.740 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000073855
Gene: ENSMUSG00000030554
AA Change: S599P

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

possibly damaging
Transcript: ENSMUST00000207102
AA Change: S157P

PolyPhen 2 Score 0.862 (Sensitivity: 0.83; Specificity: 0.93)

Predicted Effect

probably benign
Transcript: ENSMUST00000208231

Predicted Effect

probably benign
Transcript: ENSMUST00000208764

Predicted Effect

possibly damaging
Transcript: ENSMUST00000208815
AA Change: S599P

PolyPhen 2 Score 0.784 (Sensitivity: 0.85; Specificity: 0.93)

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agtr1a	A	G	13: 30,381,327	D125G	probably damaging	Het
Arhgap31	T	C	16: 38,618,242	K300E	probably damaging	Het
Cma2	C	A	14: 55,973,737	S162Y	probably benign	Het
Cntn4	A	G	6: 106,489,715	T193A	possibly damaging	Het
Col22a1	T	A	15: 71,952,528	M556L	probably benign	Het
Dld	A	G	12: 31,335,467	S292P	possibly damaging	Het
Dnah6	A	T	6: 73,032,569	D3746E	probably benign	Het
Eea1	A	G	10: 95,973,986	T9A	probably damaging	Het
Fam102a	T	C	2: 32,566,282	S319P	probably benign	Het
Gbf1	A	G	19: 46,285,669	K1714R	probably benign	Het
Gm10718	A	T	9: 3,025,118	Y194F	probably benign	Het
Gm12794	T	A	4: 101,940,690	L95H	probably benign	Het
H2-M1	A	T	17: 36,670,063	M327K	probably benign	Het
Ifnz	T	A	4: 88,783,311	S176T	possibly damaging	Het
Irak4	T	C	15: 94,547,870	Y10H	probably benign	Het
Irx5	T	C	8: 92,359,777	F163L	probably damaging	Het
Jak3	C	T	8: 71,680,790	P376S	probably damaging	Het
Lrrc25	T	C	8: 70,617,787	S73P	possibly damaging	Het
Macf1	C	T	4: 123,474,113	G2285D	probably damaging	Het
Muc4	A	T	16: 32,753,196	T1025S	probably benign	Het
Mylk2	A	G	2: 152,915,214	N303S	probably benign	Het
Olfr111	G	A	17: 37,530,664	R229H	probably benign	Het
Pcnx	T	C	12: 81,975,893	V1512A	probably benign	Het
Phlda3	A	G	1: 135,766,638	S64G	probably benign	Het
Pptc7	C	A	5: 122,313,602	S40R	probably damaging	Het
Ptpn4	A	C	1: 119,675,547		probably null	Het
Slc10a1	T	C	12: 80,960,528	M160V	probably benign	Het
Stac	T	C	9: 111,572,332	I349V	probably benign	Het
Tbc1d9b	T	C	11: 50,162,088	L924P	probably damaging	Het
Tcaf2	C	T	6: 42,624,477	V883I	possibly damaging	Het
Upp1	T	C	11: 9,125,700		probably null	Het
Whamm	C	T	7: 81,595,974	T726I	probably damaging	Het

Other mutations in Synm

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00161:Synm	APN	7	67734915	missense	probably benign	0.01
IGL01567:Synm	APN	7	67735232	missense	probably damaging	0.99
IGL01867:Synm	APN	7	67733474	missense	probably benign	0.13
IGL01951:Synm	APN	7	67739137	missense	probably damaging	1.00
IGL02264:Synm	APN	7	67734396	missense	probably damaging	0.99
IGL02892:Synm	APN	7	67735056	missense	probably damaging	1.00
PIT4449001:Synm	UTSW	7	67735277	missense	probably benign
R0032:Synm	UTSW	7	67733927	missense	possibly damaging	0.90
R0194:Synm	UTSW	7	67734924	missense	probably damaging	1.00
R0345:Synm	UTSW	7	67735821	missense	probably benign	0.13
R0453:Synm	UTSW	7	67736882	missense	possibly damaging	0.92
R0646:Synm	UTSW	7	67759168	missense	probably benign	0.07
R0847:Synm	UTSW	7	67735056	missense	probably damaging	1.00
R0919:Synm	UTSW	7	67735347	missense	probably damaging	1.00
R1484:Synm	UTSW	7	67736332	missense	probably damaging	1.00
R1700:Synm	UTSW	7	67759628	start codon destroyed	probably null	0.98
R1715:Synm	UTSW	7	67736303	missense	probably damaging	1.00
R1796:Synm	UTSW	7	67734000	missense	possibly damaging	0.77
R1799:Synm	UTSW	7	67735959	missense	probably damaging	1.00
R2116:Synm	UTSW	7	67733595	missense	probably benign	0.18
R2979:Synm	UTSW	7	67736260	missense	probably damaging	1.00
R4116:Synm	UTSW	7	67734657	missense	possibly damaging	0.50
R4172:Synm	UTSW	7	67735361	missense	probably damaging	1.00
R4981:Synm	UTSW	7	67734487	missense	probably benign	0.02
R5114:Synm	UTSW	7	67735658	missense	probably damaging	1.00
R5276:Synm	UTSW	7	67734689	missense	probably benign	0.08
R5446:Synm	UTSW	7	67735974	missense	probably benign	0.17
R5592:Synm	UTSW	7	67759516	missense	probably damaging	1.00
R5960:Synm	UTSW	7	67735746	missense	probably damaging	1.00
R6025:Synm	UTSW	7	67734938	missense	possibly damaging	0.78
R6034:Synm	UTSW	7	67734905	missense	probably damaging	1.00
R6034:Synm	UTSW	7	67734905	missense	probably damaging	1.00
R6445:Synm	UTSW	7	67733645	missense	probably benign
R6446:Synm	UTSW	7	67734966	missense	probably damaging	1.00
R6492:Synm	UTSW	7	67736061	missense	probably benign	0.00
R6526:Synm	UTSW	7	67735583	missense	possibly damaging	0.62
R6612:Synm	UTSW	7	67733516	missense	probably damaging	0.99
R6646:Synm	UTSW	7	67735127	missense	probably damaging	1.00
R6708:Synm	UTSW	7	67733246	missense	possibly damaging	0.72
R6957:Synm	UTSW	7	67736100	missense	probably benign	0.28
R6988:Synm	UTSW	7	67733658	missense	probably damaging	1.00
R7208:Synm	UTSW	7	67734915	missense	probably benign	0.01
R7320:Synm	UTSW	7	67735380	missense	possibly damaging	0.89
R7417:Synm	UTSW	7	67733206	makesense	probably null
R7425:Synm	UTSW	7	67733446	missense	probably damaging	0.99
R7468:Synm	UTSW	7	67733223	missense	unknown
R7782:Synm	UTSW	7	67734966	missense	probably damaging	1.00
R7826:Synm	UTSW	7	67735589	missense	probably damaging	1.00
Z1088:Synm	UTSW	7	67751886	missense	probably damaging	1.00

Posted On

2014-05-07