Mutagenetix > Incidental Mutations

Incidental Mutation 'R1715:Synm'

190930

Institutional Source

Beutler Lab

Gene Symbol

Synm

Ensembl Gene

ENSMUSG00000030554

Gene Name

synemin, intermediate filament protein

Synonyms

4930412K21Rik, Dmn, Synemin

MMRRC Submission

039748-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1715 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

67730160-67759742 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 67736303 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 95 (N95S)

Ref Sequence

ENSEMBL: ENSMUSP00000146510 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000051389
AA Change: N537S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000050987
Gene: ENSMUSG00000030554
AA Change: N537S

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 damaging
Transcript: ENSMUST00000074233
AA Change: N537S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000073855
Gene: ENSMUSG00000030554
AA Change: N537S

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 damaging
Transcript: ENSMUST00000207102
AA Change: N95S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000208231

Predicted Effect

probably benign
Transcript: ENSMUST00000208764

Predicted Effect

probably damaging
Transcript: ENSMUST00000208815
AA Change: N537S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.1%

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700023F06Rik	T	C	11: 103,199,824		probably null	Het
2210010C04Rik	A	G	6: 41,032,936		probably null	Het
2410089E03Rik	T	A	15: 8,226,900		probably null	Het
Abca8a	G	A	11: 110,091,580	T12M	probably damaging	Het
Alms1	T	A	6: 85,629,052	Y2561*	probably null	Het
Atp10a	G	A	7: 58,786,505	V348I	probably damaging	Het
Best2	T	C	8: 85,011,223	Y181C	probably benign	Het
Btaf1	T	A	19: 36,969,121	D442E	probably damaging	Het
C330027C09Rik	C	T	16: 49,005,719	T383I	probably benign	Het
Carmil3	T	G	14: 55,504,532	V1153G	probably benign	Het
Cc2d2a	A	G	5: 43,718,661	I993M	probably damaging	Het
Ccng1	G	A	11: 40,752,114	P169S	probably benign	Het
Cmtr2	T	C	8: 110,222,798	L580P	probably damaging	Het
Col22a1	T	C	15: 72,006,981	E109G	possibly damaging	Het
Crispld2	G	T	8: 120,023,649	W264L	possibly damaging	Het
Cyp2c38	T	C	19: 39,404,795	H276R	probably benign	Het
Dag1	A	T	9: 108,208,715	V409E	possibly damaging	Het
Emc8	T	C	8: 120,658,555	N146S	probably benign	Het
Glt8d1	T	C	14: 31,011,521	V321A	possibly damaging	Het
Gm5174	C	T	10: 86,656,912		noncoding transcript	Het
Hdac10	G	T	15: 89,126,709		probably null	Het
Hectd4	A	G	5: 121,344,818	D3144G	possibly damaging	Het
Ifna11	C	T	4: 88,820,236	S93L	probably damaging	Het
Il16	T	C	7: 83,648,728	N431S	probably benign	Het
Irf8	A	T	8: 120,754,388	E237V	probably damaging	Het
Lrp1b	A	G	2: 41,185,981	Y1769H	probably damaging	Het
Lrrc9	A	G	12: 72,477,299	N761D	probably damaging	Het
Mbtps1	T	C	8: 119,542,730	Y207C	probably benign	Het
Myo9a	A	G	9: 59,832,300	E765G	probably damaging	Het
Nlrp3	A	G	11: 59,543,351	D80G	probably damaging	Het
Olfr361	G	A	2: 37,085,176	P191S	probably damaging	Het
Olfr697	G	C	7: 106,741,548	P129A	probably damaging	Het
Olfr830	A	T	9: 18,875,794	I156F	probably benign	Het
Pcyt2	T	A	11: 120,615,851		probably null	Het
Plxnd1	T	C	6: 115,968,681	T944A	probably benign	Het
Psd4	A	T	2: 24,405,332	I833F	probably damaging	Het
Psmd7	A	G	8: 107,581,185	I222T	probably benign	Het
Rap2b	A	G	3: 61,365,190	E45G	probably damaging	Het
Rbm22	T	C	18: 60,560,844	S7P	possibly damaging	Het
Rbpms2	ACTGCTGCTGCTGCTGC	ACTGCTGCTGCTGCTGCTGC	9: 65,651,666		probably benign	Het
Rfx4	A	G	10: 84,844,280	N107S	probably damaging	Het
Ripk2	T	A	4: 16,155,192		probably null	Het
Rpgrip1	T	A	14: 52,140,691	C499S	possibly damaging	Het
Scarf1	T	C	11: 75,524,044	S515P	probably damaging	Het
Sgip1	T	C	4: 102,915,059	V215A	probably benign	Het
Sis	T	C	3: 72,889,010	I1813V	possibly damaging	Het
Slc17a3	A	T	13: 23,856,741	T317S	probably benign	Het
Slc35e1	T	C	8: 72,483,977	N340S	probably benign	Het
Smg6	A	G	11: 74,929,430	I176V	probably benign	Het
Smim17	T	C	7: 6,429,326	L89S	probably damaging	Het
Tdrd9	A	G	12: 112,036,439	K841E	possibly damaging	Het
Tep1	G	T	14: 50,854,567	F570L	possibly damaging	Het
Tgm3	G	A	2: 130,026,814		probably null	Het
Tra2b	T	C	16: 22,252,746	Y128C	possibly damaging	Het
Vmn2r17	T	C	5: 109,428,244	V327A	probably benign	Het
Wdr20rt	A	T	12: 65,227,314	D344V	probably damaging	Het
Zfp940	A	G	7: 29,844,938	C515R	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
IGL01870:Synm	APN	7	67736118	missense	possibly damaging	0.86
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
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
R7733:Synm	UTSW	7	67735945	splice site	probably null
R7782:Synm	UTSW	7	67734966	missense	probably damaging	1.00
R7826:Synm	UTSW	7	67735589	missense	probably damaging	1.00
R7971:Synm	UTSW	7	67735235	missense	possibly damaging	0.74
R8177:Synm	UTSW	7	67734065	missense	probably benign	0.00
R8190:Synm	UTSW	7	67733906	missense	probably benign
R8225:Synm	UTSW	7	67759049	missense	probably benign	0.16
R8414:Synm	UTSW	7	67733763	missense	probably benign	0.12
Z1088:Synm	UTSW	7	67751886	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCAGGTGACTGCAAGTGTATGGTG -3'
(R):5'- TCAGCAGCCGAGCCAATTTAAGAC -3'

Sequencing Primer
(F):5'- CAAGTGTATGGTGGACACCTC -3'
(R):5'- GGCTACAGAGTCTGTTATTACCAGAG -3'

Posted On

2014-05-14