Incidental Mutation 'R0345:Synm'
| ID |
38388 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Synm
|
| Ensembl Gene |
ENSMUSG00000030554 |
| Gene Name |
synemin, intermediate filament protein |
| Synonyms |
Synemin, 4930412K21Rik, Dmn |
| MMRRC Submission |
038552-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0345 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
67379909-67409490 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 67385569 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 256
(V256I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146510
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051389]
[ENSMUST00000074233]
[ENSMUST00000207102]
[ENSMUST00000208231]
[ENSMUST00000208815]
|
| AlphaFold |
Q70IV5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000051389
AA Change: V698I
PolyPhen 2
Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000050987
Gene: ENSMUSG00000030554
AA Change: V698I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Filament
|
10 |
321 |
2.7e-38 |
PFAM |
|
low complexity region
|
1248 |
1257 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000074233
AA Change: V698I
PolyPhen 2
Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000073855
Gene: ENSMUSG00000030554
AA Change: V698I
| Domain | Start | End | E-Value | Type |
|---|
|
Filament
|
10 |
321 |
6.4e-38 |
SMART |
|
internal_repeat_1
|
1089 |
1185 |
3.03e-7 |
PROSPERO |
|
internal_repeat_1
|
1351 |
1454 |
3.03e-7 |
PROSPERO |
|
low complexity region
|
1550 |
1559 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207102
AA Change: V256I
PolyPhen 2
Score 0.125 (Sensitivity: 0.93; Specificity: 0.86)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208231
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208764
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208815
|
| Meta Mutation Damage Score |
0.0620 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 94.1%
|
| Validation Efficiency |
100% (58/58) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an intermediate filament (IF) family member. IF proteins are cytoskeletal proteins that confer resistance to mechanical stress and are encoded by a dispersed multigene family. This protein has been found to form a linkage between desmin, which is a subunit of the IF network, and the extracellular matrix, and provides an important structural support in muscle. Two alternatively spliced variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit a mild skeletal muscle phenotype characterized by abnormal muscle fiber morphology and increased sarcolemmal deformability and susceptibility to injury. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700129C05Rik |
T |
C |
14: 59,377,079 (GRCm39) |
N105D |
possibly damaging |
Het |
| A2m |
T |
C |
6: 121,615,231 (GRCm39) |
|
probably benign |
Het |
| Adgrb1 |
A |
G |
15: 74,415,198 (GRCm39) |
N641S |
probably damaging |
Het |
| Aff4 |
T |
A |
11: 53,263,708 (GRCm39) |
S243T |
probably benign |
Het |
| Agap2 |
A |
G |
10: 126,923,764 (GRCm39) |
H713R |
unknown |
Het |
| Ap2a2 |
T |
A |
7: 141,211,206 (GRCm39) |
M914K |
probably damaging |
Het |
| Bcl7c |
A |
T |
7: 127,307,635 (GRCm39) |
M22K |
possibly damaging |
Het |
| Cacna1i |
A |
T |
15: 80,256,663 (GRCm39) |
D1019V |
probably damaging |
Het |
| Cd7 |
T |
C |
11: 120,929,012 (GRCm39) |
T80A |
probably benign |
Het |
| Chia1 |
T |
C |
3: 106,029,755 (GRCm39) |
Y130H |
probably damaging |
Het |
| Chmp6 |
T |
C |
11: 119,808,872 (GRCm39) |
|
probably benign |
Het |
| Chrnb4 |
A |
G |
9: 54,942,878 (GRCm39) |
V132A |
probably benign |
Het |
| Ctnna3 |
A |
G |
10: 63,402,619 (GRCm39) |
D110G |
probably benign |
Het |
| Cyp2d37-ps |
A |
T |
15: 82,573,975 (GRCm39) |
|
noncoding transcript |
Het |
| Dnah6 |
T |
C |
6: 72,998,240 (GRCm39) |
M4061V |
probably benign |
Het |
| Dydc2 |
C |
A |
14: 40,783,903 (GRCm39) |
M73I |
probably benign |
Het |
| Egflam |
G |
T |
15: 7,319,475 (GRCm39) |
|
probably null |
Het |
| Fam228b |
C |
T |
12: 4,798,351 (GRCm39) |
V151I |
possibly damaging |
Het |
| Fanca |
C |
T |
8: 124,031,552 (GRCm39) |
V380I |
probably damaging |
Het |
| Gbp2b |
T |
C |
3: 142,313,944 (GRCm39) |
L408S |
probably damaging |
Het |
| Kcnh4 |
T |
C |
11: 100,648,507 (GRCm39) |
S66G |
probably benign |
Het |
| Kcnq3 |
A |
T |
15: 65,892,154 (GRCm39) |
V407D |
possibly damaging |
Het |
| Kif24 |
A |
T |
4: 41,428,413 (GRCm39) |
D182E |
probably benign |
Het |
| Llgl2 |
A |
G |
11: 115,740,818 (GRCm39) |
|
probably benign |
Het |
| Lmo7 |
T |
A |
14: 102,114,313 (GRCm39) |
N140K |
probably damaging |
Het |
| Myo5c |
A |
G |
9: 75,204,701 (GRCm39) |
E1518G |
probably damaging |
Het |
| Myof |
A |
T |
19: 38,012,793 (GRCm39) |
N47K |
probably damaging |
Het |
| Nckap1 |
G |
T |
2: 80,375,321 (GRCm39) |
|
probably benign |
Het |
| Nlrp1a |
C |
A |
11: 71,014,501 (GRCm39) |
G250W |
probably damaging |
Het |
| Nol4l |
T |
A |
2: 153,253,672 (GRCm39) |
S390C |
probably benign |
Het |
| Or2ag2b |
T |
C |
7: 106,417,908 (GRCm39) |
F206S |
probably benign |
Het |
| Or52e18 |
T |
A |
7: 104,609,388 (GRCm39) |
M184L |
probably damaging |
Het |
| Or5ak22 |
T |
C |
2: 85,230,685 (GRCm39) |
Q64R |
possibly damaging |
Het |
| Or5h26 |
G |
A |
16: 58,988,269 (GRCm39) |
P79L |
possibly damaging |
Het |
| Plec |
G |
T |
15: 76,061,367 (GRCm39) |
P2886T |
probably damaging |
Het |
| Prdm16 |
T |
C |
4: 154,425,568 (GRCm39) |
Y738C |
probably benign |
Het |
| Ptprz1 |
A |
G |
6: 23,016,164 (GRCm39) |
Y820C |
probably damaging |
Het |
| Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
| Sgce |
G |
A |
6: 4,718,019 (GRCm39) |
P98S |
probably damaging |
Het |
| Siglecf |
T |
C |
7: 43,001,368 (GRCm39) |
F112S |
probably damaging |
Het |
| Slc6a16 |
C |
T |
7: 44,908,672 (GRCm39) |
A84V |
possibly damaging |
Het |
| Sntb2 |
T |
C |
8: 107,728,170 (GRCm39) |
S373P |
probably damaging |
Het |
| Sorcs2 |
C |
T |
5: 36,185,218 (GRCm39) |
V953I |
probably benign |
Het |
| Spata31f1a |
T |
C |
4: 42,851,116 (GRCm39) |
I347V |
probably benign |
Het |
| St7l |
T |
C |
3: 104,803,125 (GRCm39) |
|
probably benign |
Het |
| Stap2 |
A |
G |
17: 56,307,097 (GRCm39) |
V217A |
probably damaging |
Het |
| Stxbp5l |
A |
T |
16: 37,108,670 (GRCm39) |
D215E |
probably damaging |
Het |
| Syt13 |
A |
C |
2: 92,776,412 (GRCm39) |
E233A |
possibly damaging |
Het |
| Tecta |
T |
A |
9: 42,295,514 (GRCm39) |
E327V |
probably damaging |
Het |
| Tent5b |
A |
T |
4: 133,213,522 (GRCm39) |
Q131L |
probably benign |
Het |
| Themis3 |
A |
T |
17: 66,866,540 (GRCm39) |
|
probably null |
Het |
| Ttll13 |
T |
A |
7: 79,897,084 (GRCm39) |
D14E |
probably benign |
Het |
| Tubb2a |
A |
C |
13: 34,260,620 (GRCm39) |
D26E |
probably benign |
Het |
| Ubr1 |
T |
C |
2: 120,734,584 (GRCm39) |
|
probably null |
Het |
| Vps13d |
A |
T |
4: 144,844,195 (GRCm39) |
V2537E |
possibly damaging |
Het |
| Zscan10 |
T |
A |
17: 23,829,056 (GRCm39) |
F456I |
probably damaging |
Het |
| Zyg11b |
A |
G |
4: 108,123,604 (GRCm39) |
I121T |
probably damaging |
Het |
|
| Other mutations in Synm |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00161:Synm
|
APN |
7 |
67,384,663 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01567:Synm
|
APN |
7 |
67,384,980 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01867:Synm
|
APN |
7 |
67,383,222 (GRCm39) |
missense |
probably benign |
0.13 |
|
IGL01870:Synm
|
APN |
7 |
67,385,866 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
IGL01951:Synm
|
APN |
7 |
67,388,885 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02264:Synm
|
APN |
7 |
67,384,144 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02892:Synm
|
APN |
7 |
67,384,804 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4449001:Synm
|
UTSW |
7 |
67,385,025 (GRCm39) |
missense |
probably benign |
|
|
R0032:Synm
|
UTSW |
7 |
67,383,675 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R0194:Synm
|
UTSW |
7 |
67,384,672 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0453:Synm
|
UTSW |
7 |
67,386,630 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0646:Synm
|
UTSW |
7 |
67,408,916 (GRCm39) |
missense |
probably benign |
0.07 |
|
R0847:Synm
|
UTSW |
7 |
67,384,804 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0919:Synm
|
UTSW |
7 |
67,385,095 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1484:Synm
|
UTSW |
7 |
67,386,080 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1700:Synm
|
UTSW |
7 |
67,409,376 (GRCm39) |
start codon destroyed |
probably null |
0.98 |
|
R1715:Synm
|
UTSW |
7 |
67,386,051 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1796:Synm
|
UTSW |
7 |
67,383,748 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R1799:Synm
|
UTSW |
7 |
67,385,707 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2116:Synm
|
UTSW |
7 |
67,383,343 (GRCm39) |
missense |
probably benign |
0.18 |
|
R2979:Synm
|
UTSW |
7 |
67,386,008 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4116:Synm
|
UTSW |
7 |
67,384,405 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R4172:Synm
|
UTSW |
7 |
67,385,109 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4981:Synm
|
UTSW |
7 |
67,384,235 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5114:Synm
|
UTSW |
7 |
67,385,406 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5276:Synm
|
UTSW |
7 |
67,384,437 (GRCm39) |
missense |
probably benign |
0.08 |
|
R5446:Synm
|
UTSW |
7 |
67,385,722 (GRCm39) |
missense |
probably benign |
0.17 |
|
R5592:Synm
|
UTSW |
7 |
67,409,264 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5960:Synm
|
UTSW |
7 |
67,385,494 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6025:Synm
|
UTSW |
7 |
67,384,686 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R6034:Synm
|
UTSW |
7 |
67,384,653 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6034:Synm
|
UTSW |
7 |
67,384,653 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6445:Synm
|
UTSW |
7 |
67,383,393 (GRCm39) |
missense |
probably benign |
|
|
R6446:Synm
|
UTSW |
7 |
67,384,714 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6492:Synm
|
UTSW |
7 |
67,385,809 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6526:Synm
|
UTSW |
7 |
67,385,331 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R6612:Synm
|
UTSW |
7 |
67,383,264 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6646:Synm
|
UTSW |
7 |
67,384,875 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6708:Synm
|
UTSW |
7 |
67,382,994 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R6957:Synm
|
UTSW |
7 |
67,385,848 (GRCm39) |
missense |
probably benign |
0.28 |
|
R6988:Synm
|
UTSW |
7 |
67,383,406 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7208:Synm
|
UTSW |
7 |
67,384,663 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7320:Synm
|
UTSW |
7 |
67,385,128 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7417:Synm
|
UTSW |
7 |
67,382,954 (GRCm39) |
makesense |
probably null |
|
|
R7425:Synm
|
UTSW |
7 |
67,383,194 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7468:Synm
|
UTSW |
7 |
67,382,971 (GRCm39) |
missense |
unknown |
|
|
R7733:Synm
|
UTSW |
7 |
67,385,693 (GRCm39) |
splice site |
probably null |
|
|
R7782:Synm
|
UTSW |
7 |
67,384,714 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7826:Synm
|
UTSW |
7 |
67,385,337 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7971:Synm
|
UTSW |
7 |
67,384,983 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R8177:Synm
|
UTSW |
7 |
67,383,813 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8190:Synm
|
UTSW |
7 |
67,383,654 (GRCm39) |
missense |
probably benign |
|
|
R8225:Synm
|
UTSW |
7 |
67,408,797 (GRCm39) |
missense |
probably benign |
0.16 |
|
R8414:Synm
|
UTSW |
7 |
67,383,511 (GRCm39) |
missense |
probably benign |
0.12 |
|
R8880:Synm
|
UTSW |
7 |
67,386,456 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R8978:Synm
|
UTSW |
7 |
67,384,672 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9027:Synm
|
UTSW |
7 |
67,384,440 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9089:Synm
|
UTSW |
7 |
67,408,766 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9281:Synm
|
UTSW |
7 |
67,386,048 (GRCm39) |
nonsense |
probably null |
|
|
R9430:Synm
|
UTSW |
7 |
67,383,181 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9732:Synm
|
UTSW |
7 |
67,385,652 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Synm
|
UTSW |
7 |
67,401,634 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAATCTGCCCATACACTGAGCCATC -3'
(R):5'- GCTCTCTGCAAAGTGACTCAACGAC -3'
Sequencing Primer
(F):5'- GTACTCATCTGGGGTAGACAC -3'
(R):5'- AGAAACCATAGCCGAAAGCATTG -3'
|
| Posted On |
2013-05-23 |
Incidental Mutation