Incidental Mutation 'R0017:Sync'
| ID |
8310 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sync
|
| Ensembl Gene |
ENSMUSG00000001333 |
| Gene Name |
syncoilin |
| Synonyms |
SNIP4, 1110057H03Rik |
| MMRRC Submission |
038312-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.092)
|
| Stock # |
R0017 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
129181410-129202352 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 129187537 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 190
(V190M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099659
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102599]
|
| AlphaFold |
Q9EPM5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000102599
AA Change: V190M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099659
Gene: ENSMUSG00000001333
AA Change: V190M
| 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
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 79.1%
- 3x: 69.1%
- 10x: 41.8%
- 20x: 21.2%
|
| Validation Efficiency |
93% (76/82) |
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700010I14Rik |
G |
T |
17: 9,226,938 (GRCm39) |
|
probably benign |
Het |
| Adgrv1 |
T |
C |
13: 81,727,065 (GRCm39) |
N429S |
probably benign |
Het |
| Cdca8 |
T |
C |
4: 124,814,168 (GRCm39) |
T208A |
probably benign |
Het |
| Dcdc5 |
G |
A |
2: 106,187,541 (GRCm39) |
|
noncoding transcript |
Het |
| Fig4 |
A |
G |
10: 41,149,003 (GRCm39) |
Y150H |
possibly damaging |
Het |
| Fsip2 |
G |
A |
2: 82,822,416 (GRCm39) |
V6050M |
probably damaging |
Het |
| Gpld1 |
A |
G |
13: 25,174,101 (GRCm39) |
D842G |
probably damaging |
Het |
| Hmgcr |
A |
G |
13: 96,788,597 (GRCm39) |
|
probably benign |
Het |
| Ifit2 |
A |
T |
19: 34,550,973 (GRCm39) |
N171I |
probably damaging |
Het |
| Ipo11 |
T |
A |
13: 107,023,238 (GRCm39) |
I416L |
probably benign |
Het |
| Kcnab1 |
G |
A |
3: 65,264,527 (GRCm39) |
V259M |
probably damaging |
Het |
| Kif5c |
A |
G |
2: 49,622,725 (GRCm39) |
T526A |
probably benign |
Het |
| Nucb2 |
A |
G |
7: 116,132,386 (GRCm39) |
D331G |
probably benign |
Het |
| Pfdn6 |
T |
C |
17: 34,158,538 (GRCm39) |
R79G |
probably damaging |
Het |
| Pkd1 |
G |
T |
17: 24,797,513 (GRCm39) |
|
probably null |
Het |
| Ptpro |
T |
C |
6: 137,393,825 (GRCm39) |
V831A |
probably benign |
Het |
| Reg3b |
T |
A |
6: 78,349,844 (GRCm39) |
M128K |
possibly damaging |
Het |
| Rif1 |
A |
G |
2: 52,006,686 (GRCm39) |
T2207A |
probably benign |
Het |
| Rpa1 |
A |
C |
11: 75,205,687 (GRCm39) |
N223K |
probably null |
Het |
| Rras2 |
T |
C |
7: 113,647,490 (GRCm39) |
|
probably benign |
Het |
| Scyl3 |
T |
A |
1: 163,767,538 (GRCm39) |
I204N |
possibly damaging |
Het |
| Slc45a1 |
C |
A |
4: 150,714,023 (GRCm39) |
D741Y |
possibly damaging |
Het |
| Slco1a5 |
A |
T |
6: 142,182,061 (GRCm39) |
|
probably benign |
Het |
| Smg5 |
G |
T |
3: 88,258,412 (GRCm39) |
R461L |
probably damaging |
Het |
| Tshr |
A |
T |
12: 91,504,660 (GRCm39) |
I533F |
possibly damaging |
Het |
| Tsn |
T |
C |
1: 118,228,589 (GRCm39) |
D211G |
probably damaging |
Het |
| Ttn |
G |
A |
2: 76,621,988 (GRCm39) |
T15518I |
probably benign |
Het |
| Vapb |
A |
G |
2: 173,613,397 (GRCm39) |
T99A |
probably benign |
Het |
| Zfp280d |
A |
T |
9: 72,246,292 (GRCm39) |
|
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 |
|
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 |
|
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 |
2012-11-21 |
Incidental Mutation