Mutagenetix > Incidental Mutation

Incidental Mutation 'R7468:Synm'

578950

Institutional Source

Beutler Lab

Gene Symbol

Synm

Ensembl Gene

ENSMUSG00000030554

Gene Name

synemin, intermediate filament protein

Synonyms

Synemin, 4930412K21Rik, Dmn

MMRRC Submission

045542-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7468 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

67379909-67409490 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 67382971 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Threonine at position 669 (N669T)

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

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

SMART Domains

Protein: ENSMUSP00000073855
Gene: ENSMUSG00000030554

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

unknown
Transcript: ENSMUST00000208815
AA Change: N669T

Meta Mutation Damage Score

0.0869

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

98% (86/88)

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: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abl2	T	G	1: 156,450,104 (GRCm39)	N90K	possibly damaging	Het
Acox1	T	C	11: 116,069,001 (GRCm39)	T415A	possibly damaging	Het
Acy1	T	C	9: 106,314,921 (GRCm39)	M1V	probably null	Het
Akap13	G	A	7: 75,380,213 (GRCm39)	R462H	probably damaging	Het
Alpk3	C	A	7: 80,750,746 (GRCm39)	Y1505*	probably null	Het
Ankrd17	T	C	5: 90,390,902 (GRCm39)	N2256S	probably benign	Het
Ankrd22	C	A	19: 34,126,692 (GRCm39)	C46F	possibly damaging	Het
Arhgef5	A	T	6: 43,257,605 (GRCm39)	K1291*	probably null	Het
Arl9	T	A	5: 77,158,276 (GRCm39)	Y119*	probably null	Het
Asb14	T	C	14: 26,622,805 (GRCm39)	V89A	probably benign	Het
Banp	T	G	8: 122,676,588 (GRCm39)		probably null	Het
Btn2a2	T	C	13: 23,666,933 (GRCm39)	N224S	probably benign	Het
C1ra	C	T	6: 124,499,403 (GRCm39)	Q530*	probably null	Het
C2cd6	A	C	1: 59,107,844 (GRCm39)	S273A	probably benign	Het
Cd1d2	A	T	3: 86,895,583 (GRCm39)		probably null	Het
Cdc42bpb	T	C	12: 111,306,307 (GRCm39)	D132G	probably damaging	Het
Cfap45	C	A	1: 172,362,877 (GRCm39)	Y289*	probably null	Het
Chrdl2	T	C	7: 99,659,332 (GRCm39)		probably null	Het
Cilk1	A	G	9: 78,065,221 (GRCm39)	K377R	probably benign	Het
Cst5	C	T	2: 149,247,496 (GRCm39)	L71F	probably benign	Het
Dcaf11	T	C	14: 55,802,966 (GRCm39)	F292L	possibly damaging	Het
Dgcr8	A	G	16: 18,077,487 (GRCm39)	F641S	probably damaging	Het
Dnm3	G	A	1: 162,149,198 (GRCm39)		probably null	Het
Efcab3	G	T	11: 104,640,526 (GRCm39)	S1088I	probably benign	Het
Eral1	T	C	11: 77,966,219 (GRCm39)	K320E	probably damaging	Het
Eva1a	A	G	6: 82,069,002 (GRCm39)	T110A	possibly damaging	Het
Fbxo42	A	G	4: 140,926,917 (GRCm39)	D399G	possibly damaging	Het
Frs2	T	C	10: 116,910,007 (GRCm39)	T452A	possibly damaging	Het
Git2	T	A	5: 114,871,958 (GRCm39)	D542V	probably damaging	Het
Grk2	T	A	19: 4,356,063 (GRCm39)		probably benign	Het
Gsg1l2	A	G	11: 67,676,110 (GRCm39)	N158S	possibly damaging	Het
Hc	T	C	2: 34,918,063 (GRCm39)	N740S	probably benign	Het
Hectd1	T	C	12: 51,791,588 (GRCm39)		probably null	Het
Hemk1	A	G	9: 107,208,288 (GRCm39)		probably null	Het
Hormad2	G	T	11: 4,362,245 (GRCm39)	Y126*	probably null	Het
Hr	A	G	14: 70,795,652 (GRCm39)	E399G	possibly damaging	Het
Ilf3	C	A	9: 21,314,707 (GRCm39)	H780N	unknown	Het
Inpp5e	A	T	2: 26,298,161 (GRCm39)	S147T	probably benign	Het
Irag2	C	A	6: 145,119,427 (GRCm39)		probably null	Het
Jmjd6	T	C	11: 116,733,275 (GRCm39)	D134G	probably damaging	Het
Kif23	G	T	9: 61,844,457 (GRCm39)	Y120*	probably null	Het
Klk12	T	A	7: 43,422,780 (GRCm39)	Y236N	probably damaging	Het
Kmt5b	C	A	19: 3,852,799 (GRCm39)	Y186*	probably null	Het
Krtap9-5	A	G	11: 99,840,132 (GRCm39)	T278A	unknown	Het
Lca5	T	A	9: 83,305,509 (GRCm39)	D99V	probably damaging	Het
Leng9	A	G	7: 4,151,800 (GRCm39)	V292A	probably benign	Het
Lime1	A	G	2: 181,025,135 (GRCm39)	R231G	probably benign	Het
Mctp2	T	A	7: 71,861,438 (GRCm39)	E402D	probably damaging	Het
Mrpl28	T	A	17: 26,343,589 (GRCm39)	S116R	probably damaging	Het
Muc15	A	T	2: 110,561,862 (GRCm39)	R99S	probably benign	Het
Myh2	G	A	11: 67,083,368 (GRCm39)	A1444T	probably benign	Het
Mynn	T	A	3: 30,657,825 (GRCm39)	Y48N	probably damaging	Het
Myo1b	A	T	1: 51,836,639 (GRCm39)	V274E	possibly damaging	Het
Nemp1	T	A	10: 127,528,923 (GRCm39)	M209K	possibly damaging	Het
Nlrc4	G	T	17: 74,752,507 (GRCm39)	D625E	probably benign	Het
Or10al6	C	T	17: 38,082,910 (GRCm39)	A122V	probably damaging	Het
Or11a4	T	C	17: 37,536,276 (GRCm39)	F87L	probably benign	Het
Or4p4	T	C	2: 88,482,622 (GRCm39)	L42P	probably damaging	Het
Otog	T	C	7: 45,913,543 (GRCm39)	V792A	probably benign	Het
Paqr8	T	C	1: 21,005,442 (GRCm39)	Y199H	probably damaging	Het
Popdc3	A	G	10: 45,191,117 (GRCm39)	D76G	probably damaging	Het
Ppme1	T	C	7: 99,991,069 (GRCm39)	N210D	probably benign	Het
Prdm15	A	C	16: 97,636,842 (GRCm39)	Y158*	probably null	Het
Prrg2	A	T	7: 44,709,687 (GRCm39)	L70Q	probably benign	Het
Psmg4	C	T	13: 34,361,966 (GRCm39)	R85W	probably damaging	Het
Rab11fip4	A	T	11: 79,580,478 (GRCm39)	T437S	probably benign	Het
Rap2a	T	A	14: 120,716,338 (GRCm39)	M67K	probably damaging	Het
Rnf123	A	T	9: 107,946,208 (GRCm39)	H322Q	probably benign	Het
Rxfp2	A	T	5: 149,990,801 (GRCm39)	T521S	possibly damaging	Het
Scrn2	T	G	11: 96,923,992 (GRCm39)	V292G	possibly damaging	Het
Serpina3n	C	A	12: 104,377,656 (GRCm39)	P303H	probably benign	Het
Spop	C	T	11: 95,376,727 (GRCm39)	T260M	probably damaging	Het
Surf2	G	A	2: 26,809,354 (GRCm39)	G224D	probably benign	Het
Tmprss13	T	C	9: 45,239,721 (GRCm39)	S10P	unknown	Het
Trav9d-1	T	A	14: 53,029,970 (GRCm39)	S25T	probably benign	Het
Trpc3	A	T	3: 36,678,565 (GRCm39)	I840K	probably damaging	Het
Tsbp1	T	A	17: 34,636,539 (GRCm39)		probably null	Het
Tssc4	C	A	7: 142,622,999 (GRCm39)		probably benign	Het
Ttc39d	G	T	17: 80,523,579 (GRCm39)	R79S	possibly damaging	Het
Txlnb	T	A	10: 17,675,082 (GRCm39)	S78R	probably damaging	Het
Vmn1r142	T	A	7: 21,862,784 (GRCm39)	Q226L	possibly damaging	Het
Vmn1r230	T	C	17: 21,067,146 (GRCm39)	S112P	probably damaging	Het
Wrnip1	T	C	13: 33,000,360 (GRCm39)	F456L	possibly damaging	Het
Zc3h8	G	T	2: 128,775,215 (GRCm39)	H148Q	probably benign	Het
Zcchc3	A	G	2: 152,256,615 (GRCm39)	V28A	probably benign	Het
Zdbf2	T	A	1: 63,346,669 (GRCm39)	C1683S	probably benign	Het
Zfp874a	T	C	13: 67,573,723 (GRCm39)		probably null	Het
Zmym4	A	G	4: 126,776,029 (GRCm39)	S1260P	probably benign	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
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
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'- TGTGAAAGTTCCACCTCAAATG -3'
(R):5'- TTGCACACAGTAGGGATGAGC -3'

Sequencing Primer
(F):5'- GTTCCACCTCAAATGTAAAATCTCC -3'
(R):5'- ATGAGCGAGTGGCCAGCAC -3'

Posted On

2019-10-07