Incidental Mutation 'R0846:Sync'
| ID |
77365 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sync
|
| Ensembl Gene |
ENSMUSG00000001333 |
| Gene Name |
syncoilin |
| Synonyms |
SNIP4, 1110057H03Rik |
| MMRRC Submission |
039025-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.092)
|
| Stock # |
R0846 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
129181410-129202352 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 129187897 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 310
(S310G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099659
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102599]
|
| AlphaFold |
Q9EPM5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102599
AA Change: S310G
PolyPhen 2
Score 0.131 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000099659
Gene: ENSMUSG00000001333
AA Change: S310G
| 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 |
- 1x: 99.6%
- 3x: 98.8%
- 10x: 96.2%
- 20x: 90.2%
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aak1 |
T |
C |
6: 86,936,071 (GRCm39) |
|
probably benign |
Het |
| Adgrv1 |
G |
A |
13: 81,627,861 (GRCm39) |
R3667* |
probably null |
Het |
| Adh5 |
T |
G |
3: 138,156,835 (GRCm39) |
C174G |
probably damaging |
Het |
| Cap1 |
A |
C |
4: 122,756,692 (GRCm39) |
|
probably null |
Het |
| Caps2 |
G |
A |
10: 112,051,490 (GRCm39) |
R587H |
probably damaging |
Het |
| Ccn1 |
T |
A |
3: 145,353,525 (GRCm39) |
M346L |
possibly damaging |
Het |
| Cdo1 |
A |
G |
18: 46,848,812 (GRCm39) |
V142A |
probably damaging |
Het |
| Chuk |
T |
C |
19: 44,079,467 (GRCm39) |
T345A |
probably damaging |
Het |
| Cobll1 |
T |
C |
2: 64,932,409 (GRCm39) |
|
probably null |
Het |
| Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
| Cop1 |
T |
C |
1: 159,147,386 (GRCm39) |
Y571H |
probably benign |
Het |
| Cstpp1 |
T |
A |
2: 91,214,182 (GRCm39) |
T58S |
probably damaging |
Het |
| Dcc |
A |
G |
18: 71,959,283 (GRCm39) |
V163A |
probably benign |
Het |
| Dnah11 |
G |
T |
12: 117,897,585 (GRCm39) |
N3548K |
probably damaging |
Het |
| Ehhadh |
G |
T |
16: 21,592,247 (GRCm39) |
S152* |
probably null |
Het |
| Fitm2 |
T |
C |
2: 163,311,734 (GRCm39) |
T160A |
probably benign |
Het |
| Fos |
C |
T |
12: 85,522,457 (GRCm39) |
T162I |
probably damaging |
Het |
| Fsd2 |
T |
C |
7: 81,190,145 (GRCm39) |
I546V |
probably benign |
Het |
| Gal3st2c |
T |
C |
1: 93,934,669 (GRCm39) |
V19A |
possibly damaging |
Het |
| Gorasp2 |
T |
A |
2: 70,521,298 (GRCm39) |
S443T |
probably benign |
Het |
| Klf4 |
G |
A |
4: 55,530,191 (GRCm39) |
H307Y |
probably damaging |
Het |
| Ldc1 |
A |
C |
4: 130,115,417 (GRCm39) |
S44A |
probably benign |
Het |
| Mark3 |
A |
G |
12: 111,593,658 (GRCm39) |
D230G |
possibly damaging |
Het |
| Mnat1 |
T |
G |
12: 73,170,706 (GRCm39) |
|
probably null |
Het |
| Or5m9b |
T |
C |
2: 85,905,510 (GRCm39) |
L142P |
possibly damaging |
Het |
| Otogl |
T |
G |
10: 107,608,157 (GRCm39) |
T2073P |
probably benign |
Het |
| Pdxdc1 |
A |
C |
16: 13,672,257 (GRCm39) |
|
probably null |
Het |
| Pkhd1l1 |
T |
C |
15: 44,358,993 (GRCm39) |
S401P |
probably damaging |
Het |
| Polr1a |
T |
C |
6: 71,901,627 (GRCm39) |
Y262H |
probably damaging |
Het |
| Pramel19 |
A |
T |
4: 101,798,447 (GRCm39) |
K139N |
probably benign |
Het |
| Scamp4 |
T |
C |
10: 80,450,537 (GRCm39) |
F205L |
probably benign |
Het |
| Scn1a |
C |
T |
2: 66,155,099 (GRCm39) |
S620N |
probably benign |
Het |
| Scn7a |
C |
T |
2: 66,527,944 (GRCm39) |
D849N |
possibly damaging |
Het |
| Slc17a8 |
T |
C |
10: 89,442,596 (GRCm39) |
D79G |
possibly damaging |
Het |
| Tbc1d9b |
A |
C |
11: 50,062,148 (GRCm39) |
I1219L |
probably benign |
Het |
| Vmn1r47 |
T |
A |
6: 89,999,657 (GRCm39) |
M263K |
probably benign |
Het |
| Zfp773 |
A |
T |
7: 7,135,691 (GRCm39) |
C302S |
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 |
|
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'- GCTGTTCAAGGTGACCAAGGAATGC -3'
(R):5'- TCCTGTTCTGAAGTTGGAGCTGCC -3'
Sequencing Primer
(F):5'- TGCGTGGCTTACCAATACCAG -3'
(R):5'- TCTGCTTCCAGGGGTCG -3'
|
| Posted On |
2013-10-16 |
Incidental Mutation