Mutagenetix > Incidental Mutation

Incidental Mutation 'R6445:Synm'

519161

Institutional Source

Beutler Lab

Gene Symbol

Synm

Ensembl Gene

ENSMUSG00000030554

Gene Name

synemin, intermediate filament protein

Synonyms

Synemin, 4930412K21Rik, Dmn

MMRRC Submission

044388-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6445 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

67379909-67409490 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 67383393 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 1423 (V1423A)

Ref Sequence

ENSEMBL: ENSMUSP00000073855 (fasta)

Gene Model

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

AlphaFold

Q70IV5

Predicted Effect

probably benign
Transcript: ENSMUST00000051389

SMART Domains

Protein: ENSMUSP00000050987
Gene: ENSMUSG00000030554

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: V1423A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000073855
Gene: ENSMUSG00000030554
AA Change: V1423A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000208231

Predicted Effect

probably benign
Transcript: ENSMUST00000208764

Predicted Effect

probably benign
Transcript: ENSMUST00000208815

Coding Region Coverage

1x: 100.0%
3x: 99.7%
10x: 98.2%
20x: 93.9%

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: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
BC061237	C	A	14: 44,738,731 (GRCm39)	D43E	probably benign	Het
Cdh22	T	C	2: 165,012,612 (GRCm39)	I158V	probably damaging	Het
Cntrl	A	G	2: 35,052,860 (GRCm39)	I1676V	probably benign	Het
Crem	T	C	18: 3,309,671 (GRCm39)	Y18C	probably benign	Het
Cyp2b9	A	G	7: 25,886,412 (GRCm39)	I146V	probably benign	Het
Efcab14	C	A	4: 115,613,668 (GRCm39)	H205Q	possibly damaging	Het
Efcab6	T	C	15: 83,752,558 (GRCm39)	Y1437C	probably damaging	Het
Gm3055	T	A	10: 81,945,506 (GRCm39)	N375K	possibly damaging	Het
Gm36864	A	T	7: 43,886,842 (GRCm39)	Q245L	possibly damaging	Het
Gna11	A	T	10: 81,369,167 (GRCm39)	I132N	probably damaging	Het
Ikzf4	C	A	10: 128,472,424 (GRCm39)		probably null	Het
Il9r	C	T	11: 32,141,000 (GRCm39)	G346D	possibly damaging	Het
Krt71	C	T	15: 101,648,775 (GRCm39)	R190Q	probably benign	Het
Mfsd8	T	C	3: 40,791,553 (GRCm39)	I54V	probably damaging	Het
Nktr	G	T	9: 121,577,480 (GRCm39)		probably benign	Het
Or51f23c-ps1	T	C	7: 102,431,465 (GRCm39)	S261P	probably benign	Het
Or5ac17	A	T	16: 59,036,472 (GRCm39)	F168Y	probably damaging	Het
Peli2	T	C	14: 48,493,905 (GRCm39)	S376P	possibly damaging	Het
Pik3r2	C	T	8: 71,224,670 (GRCm39)	A202T	probably benign	Het
Pms1	A	T	1: 53,231,353 (GRCm39)	I832K	possibly damaging	Het
Reln	T	C	5: 22,124,212 (GRCm39)	K2765E	probably benign	Het
Rp1	A	T	1: 4,296,840 (GRCm39)	N744K	unknown	Het
Smcr8	T	C	11: 60,669,841 (GRCm39)	Y330H	possibly damaging	Het
Sned1	A	T	1: 93,211,318 (GRCm39)	R281S	possibly damaging	Het
Syt10	G	A	15: 89,698,471 (GRCm39)	T291I	probably damaging	Het
Ttn	T	C	2: 76,744,880 (GRCm39)		probably benign	Het
Wdr3	T	C	3: 100,063,719 (GRCm39)	T186A	possibly damaging	Het
Zfp451	A	C	1: 33,812,092 (GRCm39)	D874E	probably damaging	Het

Other mutations in Synm

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00161:Synm	APN	7	67,384,663 (GRCm39)	missense	probably benign	0.01
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
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

Predicted Primers

PCR Primer
(F):5'- GTGTGCAATTCTCCAGCCAC -3'
(R):5'- TCCAGGCCACTCACAATTTC -3'

Sequencing Primer
(F):5'- ATTCTCCAGCCACCACGGTG -3'
(R):5'- GAACACATTCCAGAGGGTCATTTCTG -3'

Posted On

2018-05-24