Mutagenetix > Incidental Mutation

Incidental Mutation 'R0453:Synm'

39772

Institutional Source

Beutler Lab

Gene Symbol

Synm

Ensembl Gene

ENSMUSG00000030554

Gene Name

synemin, intermediate filament protein

Synonyms

Synemin, 4930412K21Rik, Dmn

MMRRC Submission

038653-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0453 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

67379909-67409490 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 67386630 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 344 (Y344C)

Ref Sequence

ENSEMBL: ENSMUSP00000147111 (fasta)

Gene Model

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

AlphaFold

Q70IV5

Predicted Effect

probably benign
Transcript: ENSMUST00000051389
AA Change: Y344C

PolyPhen 2 Score 0.122 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000050987
Gene: ENSMUSG00000030554
AA Change: Y344C

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: Y344C

PolyPhen 2 Score 0.122 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000073855
Gene: ENSMUSG00000030554
AA Change: Y344C

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

possibly damaging
Transcript: ENSMUST00000208815
AA Change: Y344C

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)

Meta Mutation Damage Score

0.2182

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.4%
20x: 93.6%

Validation Efficiency

99% (97/98)

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: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad10	T	A	5: 121,765,445 (GRCm39)	K843*	probably null	Het
Adam26b	T	C	8: 43,973,387 (GRCm39)	I538M	probably benign	Het
Adamtsl1	T	C	4: 86,150,852 (GRCm39)	Y337H	probably damaging	Het
Ak7	T	C	12: 105,682,307 (GRCm39)	M156T	probably damaging	Het
Aldh3a1	A	G	11: 61,106,338 (GRCm39)	M238V	probably benign	Het
Asic4	T	A	1: 75,450,155 (GRCm39)		probably benign	Het
AW551984	A	G	9: 39,511,937 (GRCm39)	S25P	probably damaging	Het
Bbs7	T	A	3: 36,661,818 (GRCm39)	Y127F	possibly damaging	Het
Bco1	G	A	8: 117,835,516 (GRCm39)	E156K	possibly damaging	Het
Becn1	T	C	11: 101,181,275 (GRCm39)	D342G	probably damaging	Het
Birc6	T	A	17: 74,956,749 (GRCm39)	I3575N	probably damaging	Het
Brd10	T	C	19: 29,731,068 (GRCm39)	Y715C	probably damaging	Het
Cc2d2a	A	T	5: 43,860,636 (GRCm39)	M522L	probably benign	Het
Cerkl	A	G	2: 79,172,795 (GRCm39)	F293L	probably benign	Het
Chil3	T	G	3: 106,056,221 (GRCm39)	N311T	probably benign	Het
Cpeb2	T	A	5: 43,443,056 (GRCm39)		probably benign	Het
Cpxm2	A	G	7: 131,730,134 (GRCm39)	S162P	probably damaging	Het
Cracr2b	A	C	7: 141,044,176 (GRCm39)	E136A	probably damaging	Het
Cyp2a4	T	A	7: 26,012,258 (GRCm39)	M347K	probably benign	Het
Dicer1	C	A	12: 104,668,889 (GRCm39)	R1264S	probably benign	Het
Dlgap1	T	A	17: 71,068,341 (GRCm39)	N609K	probably benign	Het
Dnhd1	A	G	7: 105,323,651 (GRCm39)	T641A	probably benign	Het
Egfl8	T	C	17: 34,833,856 (GRCm39)	Y74C	probably damaging	Het
Esyt1	A	G	10: 128,348,078 (GRCm39)	S901P	probably benign	Het
Fam83e	A	T	7: 45,373,372 (GRCm39)	D246V	probably damaging	Het
Galnt2	T	C	8: 125,065,323 (GRCm39)		probably benign	Het
Hdc	A	G	2: 126,436,871 (GRCm39)		probably benign	Het
Herc1	A	C	9: 66,307,054 (GRCm39)	Q958P	probably benign	Het
Iqcg	T	A	16: 32,870,213 (GRCm39)		probably benign	Het
Iqub	A	T	6: 24,450,829 (GRCm39)	F590Y	probably damaging	Het
Jak2	T	C	19: 29,289,238 (GRCm39)	I1130T	probably benign	Het
Kbtbd11	G	A	8: 15,077,499 (GRCm39)	A33T	probably benign	Het
Kcnip4	A	G	5: 48,667,054 (GRCm39)	L37P	probably damaging	Het
Klk6	A	G	7: 43,477,963 (GRCm39)	N112D	probably damaging	Het
Kmt2c	G	A	5: 25,559,745 (GRCm39)	T1011I	probably damaging	Het
Knl1	A	T	2: 118,898,869 (GRCm39)	K190M	probably damaging	Het
Lama3	T	A	18: 12,598,535 (GRCm39)	S981T	possibly damaging	Het
Lrrc18	T	C	14: 32,730,608 (GRCm39)	L49P	probably damaging	Het
Lrrc31	T	C	3: 30,741,674 (GRCm39)	E245G	probably damaging	Het
Lypd10	T	A	7: 24,413,712 (GRCm39)	S243T	probably benign	Het
Macf1	T	C	4: 123,338,737 (GRCm39)	I2456M	probably benign	Het
Mcm6	T	A	1: 128,261,292 (GRCm39)	T771S	probably benign	Het
Met	A	C	6: 17,534,197 (GRCm39)	Y680S	possibly damaging	Het
Mixl1	T	A	1: 180,524,211 (GRCm39)	T123S	probably damaging	Het
Myh8	A	T	11: 67,183,731 (GRCm39)	I787F	probably benign	Het
Myocd	A	G	11: 65,087,051 (GRCm39)	F292S	probably damaging	Het
Neb	T	C	2: 52,203,902 (GRCm39)		probably null	Het
Nfe2l1	A	G	11: 96,718,194 (GRCm39)	S114P	probably damaging	Het
Nrxn2	T	C	19: 6,541,551 (GRCm39)	S986P	probably damaging	Het
Oprl1	T	C	2: 181,360,527 (GRCm39)		probably null	Het
Or11h6	T	C	14: 50,880,461 (GRCm39)	V241A	possibly damaging	Het
Or4a73	A	T	2: 89,421,095 (GRCm39)	Y121*	probably null	Het
Or5b101	T	G	19: 13,005,295 (GRCm39)	T133P	probably damaging	Het
Or6c8	A	G	10: 128,915,640 (GRCm39)	F64S	probably damaging	Het
Or8b53	G	A	9: 38,667,425 (GRCm39)	G147D	probably damaging	Het
Or8c9	A	T	9: 38,241,467 (GRCm39)	T195S	probably benign	Het
Panx2	T	A	15: 88,952,610 (GRCm39)	I359N	probably damaging	Het
Pik3c2b	T	A	1: 133,005,134 (GRCm39)	V545E	probably damaging	Het
Piwil4	T	C	9: 14,638,748 (GRCm39)	N259S	probably benign	Het
Plcxd2	A	T	16: 45,800,919 (GRCm39)	F102I	probably damaging	Het
Pld5	A	T	1: 175,917,522 (GRCm39)	M75K	possibly damaging	Het
Pmp22	T	A	11: 63,041,929 (GRCm39)		probably benign	Het
Polr2a	A	G	11: 69,631,845 (GRCm39)	S1074P	possibly damaging	Het
Pop1	T	A	15: 34,526,352 (GRCm39)	V649E	possibly damaging	Het
Prc1	A	G	7: 79,962,850 (GRCm39)	N548S	probably damaging	Het
Prss51	T	C	14: 64,334,588 (GRCm39)	L202P	probably damaging	Het
Rhpn1	T	C	15: 75,585,428 (GRCm39)	S576P	possibly damaging	Het
Rictor	A	G	15: 6,738,123 (GRCm39)	D20G	probably benign	Het
Rpl13a-ps1	A	T	19: 50,018,645 (GRCm39)	L177*	probably null	Het
Rpl23a-ps1	T	G	1: 46,021,087 (GRCm39)		noncoding transcript	Het
Saa2	A	G	7: 46,402,902 (GRCm39)	D51G	probably damaging	Het
Sec31a	A	T	5: 100,551,977 (GRCm39)		probably benign	Het
Secisbp2	G	A	13: 51,837,361 (GRCm39)	E841K	possibly damaging	Het
Serinc1	A	G	10: 57,393,306 (GRCm39)	Y437H	probably damaging	Het
Slc39a12	A	T	2: 14,440,492 (GRCm39)	H481L	probably benign	Het
Suz12	T	A	11: 79,920,859 (GRCm39)	N586K	probably damaging	Het
Tas2r104	A	G	6: 131,662,304 (GRCm39)	V135A	probably benign	Het
Tdrd9	T	C	12: 112,034,673 (GRCm39)	S1371P	probably benign	Het
Tg	T	A	15: 66,700,382 (GRCm39)	D893E	probably benign	Het
Thoc5	C	A	11: 4,868,217 (GRCm39)	D423E	possibly damaging	Het
Trim11	G	A	11: 58,881,361 (GRCm39)	R418H	probably damaging	Het
Trim52	T	G	14: 106,344,399 (GRCm39)	V19G	probably damaging	Het
Tuba4a	C	A	1: 75,192,502 (GRCm39)	V371L	probably damaging	Het
Ugt8a	A	G	3: 125,708,606 (GRCm39)	V168A	probably benign	Het
Ulk1	C	T	5: 110,938,951 (GRCm39)	G496R	probably damaging	Het
Usp40	A	G	1: 87,874,320 (GRCm39)	*1236Q	probably null	Het
Vmn2r100	C	A	17: 19,742,382 (GRCm39)	P252Q	possibly damaging	Het
Vmn2r24	A	G	6: 123,757,350 (GRCm39)		probably null	Het
Vmn2r53	A	G	7: 12,316,338 (GRCm39)	Y494H	probably damaging	Het
Vmn2r65	T	A	7: 84,595,442 (GRCm39)	D414V	probably benign	Het
Wdr26	A	T	1: 181,010,444 (GRCm39)	L519*	probably null	Het
Wnk1	A	G	6: 119,940,112 (GRCm39)	V173A	probably damaging	Het
Zfp217	C	T	2: 169,957,382 (GRCm39)	A539T	probably benign	Het
Zfp318	T	C	17: 46,707,634 (GRCm39)	S231P	probably damaging	Het
Zfp398	T	C	6: 47,842,782 (GRCm39)	V146A	probably benign	Het
Zfp410	T	C	12: 84,378,486 (GRCm39)	M270T	probably damaging	Het
Zfp445	A	T	9: 122,682,578 (GRCm39)	H454Q	possibly 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
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

Predicted Primers

PCR Primer
(F):5'- AAATTGGCTCGGCTGCTGATGG -3'
(R):5'- GGGGCGATATTTCACTGTGACAGG -3'

Sequencing Primer
(F):5'- CTGCTGATGGTTTTCTCCAGG -3'
(R):5'- CACTGTGACAGGAGTTCTAAAAC -3'

Posted On

2013-05-23