Incidental Mutation 'PIT4354001:Sync'
ID |
554812 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sync
|
Ensembl Gene |
ENSMUSG00000001333 |
Gene Name |
syncoilin |
Synonyms |
SNIP4, 1110057H03Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.092)
|
Stock # |
PIT4354001 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
129181410-129202352 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 129200447 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Leucine
at position 451
(Q451L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000099659
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102598]
[ENSMUST00000102599]
|
AlphaFold |
Q9EPM5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000102598
|
SMART Domains |
Protein: ENSMUSP00000099658 Gene: ENSMUSG00000057236
Domain | Start | End | E-Value | Type |
Pfam:CAF1C_H4-bd
|
19 |
88 |
1.3e-28 |
PFAM |
WD40
|
112 |
153 |
8.25e0 |
SMART |
WD40
|
166 |
206 |
2.07e-6 |
SMART |
WD40
|
216 |
256 |
4.48e-2 |
SMART |
WD40
|
262 |
302 |
5.81e-10 |
SMART |
WD40
|
306 |
346 |
3.93e-7 |
SMART |
WD40
|
363 |
403 |
1.08e-4 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000102599
AA Change: Q451L
PolyPhen 2
Score 0.712 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000099659 Gene: ENSMUSG00000001333 AA Change: Q451L
Domain | Start | End | E-Value | Type |
low complexity region
|
65 |
75 |
N/A |
INTRINSIC |
Filament
|
156 |
453 |
1.2e-2 |
SMART |
|
Coding Region Coverage |
- 1x: 92.5%
- 3x: 90.1%
- 10x: 83.2%
- 20x: 69.0%
|
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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arap2 |
A |
T |
5: 62,811,392 (GRCm39) |
Y1140N |
probably damaging |
Het |
Ccdc83 |
A |
T |
7: 89,873,182 (GRCm39) |
M391K |
probably benign |
Het |
Cntnap1 |
A |
T |
11: 101,072,123 (GRCm39) |
I459F |
probably damaging |
Het |
Cr2 |
T |
A |
1: 194,848,617 (GRCm39) |
Y302F |
probably damaging |
Het |
Ctu2 |
A |
T |
8: 123,205,714 (GRCm39) |
D179V |
probably damaging |
Het |
Cubn |
G |
A |
2: 13,473,663 (GRCm39) |
Q427* |
probably null |
Het |
Depdc7 |
A |
G |
2: 104,558,533 (GRCm39) |
S163P |
probably benign |
Het |
Eif2s3y |
C |
T |
Y: 1,020,126 (GRCm39) |
R385C |
probably benign |
Het |
Gigyf1 |
A |
G |
5: 137,522,366 (GRCm39) |
K728R |
unknown |
Het |
Gm1587 |
G |
A |
14: 78,034,473 (GRCm39) |
R32* |
probably null |
Het |
Hjv |
T |
C |
3: 96,435,761 (GRCm39) |
C340R |
probably damaging |
Het |
Isy1 |
A |
G |
6: 87,810,653 (GRCm39) |
I53T |
possibly damaging |
Het |
Myh8 |
A |
T |
11: 67,180,456 (GRCm39) |
N564I |
probably benign |
Het |
Neb |
A |
T |
2: 52,135,330 (GRCm39) |
I3260N |
probably damaging |
Het |
Npc1 |
C |
T |
18: 12,344,592 (GRCm39) |
G426E |
probably benign |
Het |
Nrdc |
G |
A |
4: 108,911,222 (GRCm39) |
|
probably null |
Het |
Or2v1 |
G |
A |
11: 49,025,132 (GRCm39) |
V38M |
probably damaging |
Het |
Or4c10b |
T |
A |
2: 89,711,852 (GRCm39) |
S227R |
probably benign |
Het |
Or4c116 |
C |
A |
2: 88,942,830 (GRCm39) |
E9* |
probably null |
Het |
Pate8 |
T |
A |
9: 36,492,597 (GRCm39) |
S103C |
possibly damaging |
Het |
Prss51 |
T |
A |
14: 64,334,546 (GRCm39) |
V91D |
probably damaging |
Het |
Qpct |
A |
C |
17: 79,389,188 (GRCm39) |
Y280S |
probably benign |
Het |
Rbpms |
A |
G |
8: 34,296,866 (GRCm39) |
V137A |
possibly damaging |
Het |
Rgl2 |
T |
A |
17: 34,152,914 (GRCm39) |
M441K |
possibly damaging |
Het |
Sdhaf3 |
A |
T |
6: 6,956,072 (GRCm39) |
I16F |
possibly damaging |
Het |
Slc38a3 |
T |
G |
9: 107,534,848 (GRCm39) |
N176H |
probably benign |
Het |
Sos1 |
T |
C |
17: 80,756,785 (GRCm39) |
S256G |
possibly damaging |
Het |
Spg11 |
A |
T |
2: 121,918,666 (GRCm39) |
C988S |
probably damaging |
Het |
Tbc1d31 |
A |
G |
15: 57,831,329 (GRCm39) |
Y929C |
probably benign |
Het |
Thbs2 |
G |
A |
17: 14,910,230 (GRCm39) |
T123I |
probably damaging |
Het |
Thsd7a |
A |
C |
6: 12,331,926 (GRCm39) |
|
probably null |
Het |
Tnfrsf11a |
T |
C |
1: 105,749,242 (GRCm39) |
L220P |
probably damaging |
Het |
Trbv13-2 |
G |
A |
6: 41,098,752 (GRCm39) |
C109Y |
probably damaging |
Het |
Ugt3a1 |
G |
A |
15: 9,306,446 (GRCm39) |
W198* |
probably null |
Het |
Usp14 |
G |
A |
18: 9,996,189 (GRCm39) |
R464W |
probably damaging |
Het |
Vmn1r2 |
C |
T |
4: 3,172,162 (GRCm39) |
S27L |
probably benign |
Het |
Vmn1r68 |
T |
A |
7: 10,261,958 (GRCm39) |
N47Y |
probably benign |
Het |
Zfc3h1 |
T |
A |
10: 115,262,944 (GRCm39) |
Y1719* |
probably null |
Het |
|
Other mutations in Sync |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02629:Sync
|
APN |
4 |
129,187,744 (GRCm39) |
missense |
probably damaging |
0.99 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- AGTGTTCTCTGCTTCCCAAG -3'
(R):5'- ACCAGCCAGTAGATGATGTAGC -3'
Sequencing Primer
(F):5'- GTCTCTCAAATCTAAAACTCAGAGG -3'
(R):5'- CTAAAAGTTCTTAGCTGGGCAG -3'
|
Posted On |
2019-06-07 |