Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02264:Synm'

286857

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 #

IGL02264

Quality Score

Status

Chromosome

Chromosomal Location

67379909-67409490 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 67384144 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 1173 (T1173A)

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 damaging
Transcript: ENSMUST00000074233
AA Change: T1173A

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000073855
Gene: ENSMUSG00000030554
AA Change: T1173A

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

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: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921504E06Rik	A	G	2: 19,547,180 (GRCm39)		probably null	Het
Abhd17b	T	C	19: 21,655,796 (GRCm39)	L26P	probably damaging	Het
Abtb1	A	G	6: 88,813,517 (GRCm39)	V407A	probably benign	Het
Adamts17	C	A	7: 66,697,207 (GRCm39)		probably null	Het
Arhgap21	G	T	2: 20,864,850 (GRCm39)		probably null	Het
Brwd1	T	C	16: 95,820,656 (GRCm39)	D1290G	probably damaging	Het
Btbd6	A	G	12: 112,940,589 (GRCm39)	T49A	probably damaging	Het
Carmil1	C	T	13: 24,259,699 (GRCm39)	V702I	possibly damaging	Het
Cts8	T	A	13: 61,398,772 (GRCm39)	I245F	probably damaging	Het
Dclre1a	T	A	19: 56,532,725 (GRCm39)	N623I	possibly damaging	Het
Dnah9	A	T	11: 65,971,314 (GRCm39)		probably benign	Het
Emc1	T	C	4: 139,102,775 (GRCm39)	F978S	probably damaging	Het
Fam185a	G	A	5: 21,685,392 (GRCm39)	V363I	possibly damaging	Het
Iglc2	G	T	16: 19,017,397 (GRCm39)	S69R	probably damaging	Het
Ints5	T	C	19: 8,873,076 (GRCm39)	V345A	probably benign	Het
Kif21b	T	A	1: 136,087,495 (GRCm39)	L937Q	probably damaging	Het
Lrba	A	G	3: 86,687,569 (GRCm39)	R2825G	probably damaging	Het
Map1a	A	G	2: 121,137,794 (GRCm39)	E2870G	probably damaging	Het
Or4c125	G	T	2: 89,170,028 (GRCm39)	T206K	probably benign	Het
Or4k41	A	G	2: 111,280,207 (GRCm39)	T241A	probably benign	Het
Or5aq7	C	T	2: 86,937,785 (GRCm39)		probably benign	Het
Or8b48	C	T	9: 38,492,809 (GRCm39)	P79S	probably damaging	Het
Pcsk1	C	A	13: 75,254,078 (GRCm39)	T210K	probably damaging	Het
Phaf1	C	T	8: 105,961,178 (GRCm39)	A71V	possibly damaging	Het
Slco5a1	A	G	1: 12,942,219 (GRCm39)	V809A	probably benign	Het
Tbc1d9b	T	C	11: 50,040,584 (GRCm39)	I367T	probably damaging	Het
Tmem169	T	A	1: 72,340,114 (GRCm39)	Y181*	probably null	Het
Trp73	G	T	4: 154,148,885 (GRCm39)	F289L	probably null	Het
Ttll9	A	G	2: 152,842,055 (GRCm39)	Y303C	probably damaging	Het
Ubr4	G	T	4: 139,182,939 (GRCm39)	E3577*	probably null	Het
Zbtb3	T	G	19: 8,780,729 (GRCm39)	V114G	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
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

2015-04-16