Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02629:Sync'

301220

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Sync

Ensembl Gene

ENSMUSG00000001333

Gene Name

syncoilin

Synonyms

SNIP4, 1110057H03Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.092) question?

Stock #

IGL02629

Quality Score

Status

Chromosome

Chromosomal Location

129181410-129202352 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 129187744 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 259 (F259L)

Ref Sequence

ENSEMBL: ENSMUSP00000099659 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000102599]

AlphaFold

Q9EPM5

Predicted Effect

probably damaging
Transcript: ENSMUST00000102599
AA Change: F259L

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000099659
Gene: ENSMUSG00000001333
AA Change: F259L

Domain	Start	End	E-Value	Type
low complexity region	65	75	N/A	INTRINSIC
Filament	156	453	1.2e-2	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146448

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the intermediate filament family which contains an N-terminal head domain, followed by a central coiled-coil region and a short C-terminal tail. The protein is highly expressed in skeletal and cardiac muscle. The protein links the dystrophin associated protein complex (DAPC) to desmin filaments in muscle and may have a structural role in striated muscle. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2009]
PHENOTYPE: Homozygotes for one knock-out allele show reduced generation of isometric stress in skeletal muscle but a normal response to eccentric contraction-induced injury. Homozygotes for another knock-out allele show impaired contractility and increased skeletalmuscle damage under a forced exercise regime. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017N19Rik	T	C	10: 100,445,006 (GRCm39)		probably benign	Het
Aadacl3	A	G	4: 144,190,199 (GRCm39)	I34T	possibly damaging	Het
Acan	T	A	7: 78,761,727 (GRCm39)	I1979N	possibly damaging	Het
Ankrd27	A	G	7: 35,325,121 (GRCm39)	D701G	probably benign	Het
Arhgap31	C	T	16: 38,429,526 (GRCm39)	G450S	probably benign	Het
Braf	T	C	6: 39,665,233 (GRCm39)	E45G	possibly damaging	Het
Btnl6	C	T	17: 34,733,442 (GRCm39)	V178M	probably damaging	Het
Capg	A	T	6: 72,532,737 (GRCm39)	Q67L	probably benign	Het
Carmil3	A	G	14: 55,736,525 (GRCm39)	N663S	probably damaging	Het
Casz1	T	A	4: 149,028,848 (GRCm39)	S1098T	probably benign	Het
Cd55b	A	T	1: 130,347,535 (GRCm39)		probably benign	Het
Cdc45	C	T	16: 18,617,479 (GRCm39)	M200I	probably benign	Het
Cenpf	A	G	1: 189,384,531 (GRCm39)	L2583P	probably damaging	Het
Clec4a1	A	C	6: 122,909,106 (GRCm39)		probably null	Het
Corin	T	C	5: 72,490,016 (GRCm39)	N653S	probably damaging	Het
Dhx36	T	C	3: 62,414,155 (GRCm39)	E69G	probably benign	Het
Dpy19l1	C	A	9: 24,350,009 (GRCm39)		probably benign	Het
Fam184a	T	C	10: 53,574,907 (GRCm39)	N234S	possibly damaging	Het
Foxg1	A	G	12: 49,432,331 (GRCm39)	S355G	probably benign	Het
Fsd1l	T	C	4: 53,686,417 (GRCm39)	S277P	probably damaging	Het
Hadh	T	A	3: 131,029,284 (GRCm39)	D245V	probably damaging	Het
Jag2	G	A	12: 112,878,134 (GRCm39)		probably benign	Het
Klhl18	A	T	9: 110,259,006 (GRCm39)		probably benign	Het
Lmx1a	G	T	1: 167,672,192 (GRCm39)		probably benign	Het
Mcoln2	A	G	3: 145,875,799 (GRCm39)	Y89C	probably benign	Het
Mug1	A	T	6: 121,817,024 (GRCm39)	Y31F	possibly damaging	Het
Ndufb5	A	G	3: 32,791,348 (GRCm39)	T32A	probably benign	Het
Nub1	C	T	5: 24,908,462 (GRCm39)	H404Y	possibly damaging	Het
Nudt6	A	G	3: 37,459,320 (GRCm39)	Y222H	probably benign	Het
Or4x6	A	T	2: 89,949,201 (GRCm39)	L247*	probably null	Het
Pla2g4c	A	T	7: 13,069,302 (GRCm39)	R159*	probably null	Het
Pnpla7	A	G	2: 24,940,957 (GRCm39)	D1103G	probably damaging	Het
Pof1b	T	G	X: 111,554,934 (GRCm39)		probably benign	Het
Prrg2	C	T	7: 44,706,166 (GRCm39)		probably null	Het
Rab3gap1	A	G	1: 127,837,600 (GRCm39)	T221A	probably benign	Het
Rfx7	A	G	9: 72,526,541 (GRCm39)	N1244D	probably damaging	Het
Rnf123	G	A	9: 107,945,501 (GRCm39)	R390*	probably null	Het
Rnf123	A	T	9: 107,947,988 (GRCm39)		probably benign	Het
Rnf44	T	G	13: 54,830,875 (GRCm39)	Q207P	possibly damaging	Het
Serpina3g	A	G	12: 104,207,437 (GRCm39)	D200G	probably damaging	Het
Slc5a4a	T	A	10: 75,983,413 (GRCm39)	S17T	unknown	Het
Smc4	G	T	3: 68,933,206 (GRCm39)	C609F	probably damaging	Het
Tas2r113	T	C	6: 132,870,299 (GRCm39)	L109P	probably damaging	Het
Tjp2	C	A	19: 24,099,743 (GRCm39)		probably benign	Het
Tmem30a	C	A	9: 79,683,531 (GRCm39)		probably benign	Het
Unc80	T	C	1: 66,522,476 (GRCm39)	V226A	possibly damaging	Het
Upk2	A	T	9: 44,365,436 (GRCm39)	L44Q	probably damaging	Het
Usp42	T	C	5: 143,708,909 (GRCm39)	Y203C	possibly damaging	Het
Vmn1r28	A	T	6: 58,242,801 (GRCm39)	I215F	probably benign	Het
Zswim2	A	G	2: 83,755,553 (GRCm39)	V116A	possibly damaging	Het

Other mutations in Sync

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
PIT4354001:Sync	UTSW	4	129,200,447 (GRCm39)	missense	possibly damaging	0.71
R0017:Sync	UTSW	4	129,187,537 (GRCm39)	missense	probably damaging	1.00
R0017:Sync	UTSW	4	129,187,537 (GRCm39)	missense	probably damaging	1.00
R0242:Sync	UTSW	4	129,187,514 (GRCm39)	missense	probably damaging	1.00
R0242:Sync	UTSW	4	129,187,514 (GRCm39)	missense	probably damaging	1.00
R0825:Sync	UTSW	4	129,187,190 (GRCm39)	missense	probably benign	0.04
R0846:Sync	UTSW	4	129,187,897 (GRCm39)	missense	probably benign	0.13
R3824:Sync	UTSW	4	129,188,156 (GRCm39)	missense	possibly damaging	0.95
R4151:Sync	UTSW	4	129,187,519 (GRCm39)	nonsense	probably null
R4166:Sync	UTSW	4	129,200,535 (GRCm39)	intron	probably benign
R4760:Sync	UTSW	4	129,187,232 (GRCm39)	missense	probably benign	0.01
R5753:Sync	UTSW	4	129,187,179 (GRCm39)	nonsense	probably null
R6120:Sync	UTSW	4	129,187,544 (GRCm39)	missense	probably damaging	1.00
R6578:Sync	UTSW	4	129,188,060 (GRCm39)	missense	probably damaging	1.00
R6860:Sync	UTSW	4	129,181,583 (GRCm39)	critical splice donor site	probably null
R7347:Sync	UTSW	4	129,188,099 (GRCm39)	missense	probably benign	0.22
R7612:Sync	UTSW	4	129,187,375 (GRCm39)	missense	probably benign	0.11
R9058:Sync	UTSW	4	129,187,217 (GRCm39)	missense	probably damaging	0.99
R9145:Sync	UTSW	4	129,187,618 (GRCm39)	missense
R9266:Sync	UTSW	4	129,187,179 (GRCm39)	nonsense	probably null

Posted On

2015-04-16