Incidental Mutation 'R6578:Sync'
| ID |
523847 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sync
|
| Ensembl Gene |
ENSMUSG00000001333 |
| Gene Name |
syncoilin |
| Synonyms |
SNIP4, 1110057H03Rik |
| MMRRC Submission |
044702-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.092)
|
| Stock # |
R6578 (G1)
|
| Quality Score |
187.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
129181410-129202352 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 129188060 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 364
(L364P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099659
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102599]
|
| AlphaFold |
Q9EPM5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000102599
AA Change: L364P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099659
Gene: ENSMUSG00000001333
AA Change: L364P
| 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 |
0.4780 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.4%
- 10x: 96.8%
- 20x: 89.4%
|
| Validation Efficiency |
97% (37/38) |
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700034J05Rik |
G |
A |
6: 146,854,812 (GRCm39) |
R77* |
probably null |
Het |
| Aldh9a1 |
A |
G |
1: 167,183,328 (GRCm39) |
Y182C |
probably damaging |
Het |
| Alpk3 |
T |
A |
7: 80,728,432 (GRCm39) |
S521T |
probably benign |
Het |
| Ankzf1 |
A |
G |
1: 75,174,401 (GRCm39) |
R464G |
possibly damaging |
Het |
| Baz2b |
T |
C |
2: 59,799,623 (GRCm39) |
E232G |
possibly damaging |
Het |
| Bbs2 |
T |
C |
8: 94,803,669 (GRCm39) |
S524G |
probably null |
Het |
| Casp1 |
A |
G |
9: 5,304,280 (GRCm39) |
K318R |
probably benign |
Het |
| Clock |
T |
A |
5: 76,364,556 (GRCm39) |
Q853L |
unknown |
Het |
| Clstn3 |
A |
G |
6: 124,427,663 (GRCm39) |
|
probably null |
Het |
| Ebpl |
A |
C |
14: 61,597,769 (GRCm39) |
V24G |
probably benign |
Het |
| Erbb2 |
T |
C |
11: 98,319,014 (GRCm39) |
C568R |
probably damaging |
Het |
| Gcm2 |
A |
G |
13: 41,259,154 (GRCm39) |
I105T |
probably damaging |
Het |
| Gm7145 |
C |
T |
1: 117,913,525 (GRCm39) |
P136S |
probably damaging |
Het |
| Helb |
G |
T |
10: 119,947,086 (GRCm39) |
R76S |
probably damaging |
Het |
| Hipk4 |
T |
C |
7: 27,227,812 (GRCm39) |
I186T |
probably damaging |
Het |
| Igdcc3 |
A |
G |
9: 65,089,301 (GRCm39) |
D499G |
probably damaging |
Het |
| Krt26 |
T |
A |
11: 99,225,628 (GRCm39) |
Q284H |
probably damaging |
Het |
| Lama4 |
T |
C |
10: 38,893,361 (GRCm39) |
I156T |
probably benign |
Het |
| Mical2 |
T |
A |
7: 111,910,652 (GRCm39) |
F274Y |
probably damaging |
Het |
| Mug1 |
A |
T |
6: 121,864,411 (GRCm39) |
Q1436L |
probably benign |
Het |
| Nin |
A |
G |
12: 70,107,968 (GRCm39) |
V208A |
probably damaging |
Het |
| Or4p20 |
T |
C |
2: 88,253,488 (GRCm39) |
S294G |
probably benign |
Het |
| Pappa |
T |
A |
4: 65,074,374 (GRCm39) |
N309K |
possibly damaging |
Het |
| Pdcd11 |
T |
C |
19: 47,099,520 (GRCm39) |
V873A |
probably benign |
Het |
| Phf14 |
G |
A |
6: 11,991,996 (GRCm39) |
C724Y |
probably damaging |
Het |
| Pik3r2 |
T |
G |
8: 71,225,283 (GRCm39) |
I127L |
probably benign |
Het |
| Polr1a |
T |
A |
6: 71,953,025 (GRCm39) |
M1531K |
possibly damaging |
Het |
| Pwwp2b |
T |
C |
7: 138,836,028 (GRCm39) |
C490R |
probably damaging |
Het |
| Rax |
T |
C |
18: 66,071,738 (GRCm39) |
T50A |
probably benign |
Het |
| Rbm28 |
A |
T |
6: 29,137,639 (GRCm39) |
I438N |
probably damaging |
Het |
| Sema4c |
C |
T |
1: 36,589,834 (GRCm39) |
V507I |
probably benign |
Het |
| Skint8 |
C |
T |
4: 111,794,159 (GRCm39) |
T183I |
probably benign |
Het |
| Spata16 |
C |
T |
3: 26,721,697 (GRCm39) |
Q73* |
probably null |
Het |
| Syne1 |
T |
A |
10: 5,355,454 (GRCm39) |
K376* |
probably null |
Het |
| Tanc1 |
C |
T |
2: 59,626,298 (GRCm39) |
R552C |
probably damaging |
Het |
| Tdrd6 |
T |
C |
17: 43,939,852 (GRCm39) |
I399V |
possibly damaging |
Het |
| Vps13b |
T |
C |
15: 35,446,247 (GRCm39) |
C455R |
probably damaging |
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 |
|
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 |
|
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'- ATGGGCACTTTCTCCAGGAG -3'
(R):5'- TTCCCTTGAGCTAAAATATGTCCC -3'
Sequencing Primer
(F):5'- ACTTTCTCCAGGAGAGCCGAC -3'
(R):5'- GCTAAAATATGTCCCTTCAGCTGGG -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation