Incidental Mutation 'R1715:Synm'
ID |
190930 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Synm
|
Ensembl Gene |
ENSMUSG00000030554 |
Gene Name |
synemin, intermediate filament protein |
Synonyms |
Synemin, 4930412K21Rik, Dmn |
MMRRC Submission |
039748-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1715 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
67379909-67409490 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 67386051 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 95
(N95S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000146510
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051389]
[ENSMUST00000074233]
[ENSMUST00000207102]
[ENSMUST00000208231]
[ENSMUST00000208815]
|
AlphaFold |
Q70IV5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000051389
AA Change: N537S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000050987 Gene: ENSMUSG00000030554 AA Change: N537S
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 damaging
Transcript: ENSMUST00000074233
AA Change: N537S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000073855 Gene: ENSMUSG00000030554 AA Change: N537S
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 damaging
Transcript: ENSMUST00000207102
AA Change: N95S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000208231
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000208764
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000208815
AA Change: N537S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.1%
|
Validation Efficiency |
|
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 |
Abca8a |
G |
A |
11: 109,982,406 (GRCm39) |
T12M |
probably damaging |
Het |
Alms1 |
T |
A |
6: 85,606,034 (GRCm39) |
Y2561* |
probably null |
Het |
Atp10a |
G |
A |
7: 58,436,253 (GRCm39) |
V348I |
probably damaging |
Het |
Best2 |
T |
C |
8: 85,737,852 (GRCm39) |
Y181C |
probably benign |
Het |
Btaf1 |
T |
A |
19: 36,946,521 (GRCm39) |
D442E |
probably damaging |
Het |
Carmil3 |
T |
G |
14: 55,741,989 (GRCm39) |
V1153G |
probably benign |
Het |
Cc2d2a |
A |
G |
5: 43,876,003 (GRCm39) |
I993M |
probably damaging |
Het |
Ccng1 |
G |
A |
11: 40,642,941 (GRCm39) |
P169S |
probably benign |
Het |
Cip2a |
C |
T |
16: 48,826,082 (GRCm39) |
T383I |
probably benign |
Het |
Cmtr2 |
T |
C |
8: 110,949,430 (GRCm39) |
L580P |
probably damaging |
Het |
Col22a1 |
T |
C |
15: 71,878,830 (GRCm39) |
E109G |
possibly damaging |
Het |
Cplane1 |
T |
A |
15: 8,256,384 (GRCm39) |
|
probably null |
Het |
Crispld2 |
G |
T |
8: 120,750,388 (GRCm39) |
W264L |
possibly damaging |
Het |
Cyp2c38 |
T |
C |
19: 39,393,239 (GRCm39) |
H276R |
probably benign |
Het |
Dag1 |
A |
T |
9: 108,085,914 (GRCm39) |
V409E |
possibly damaging |
Het |
Efcab15 |
T |
C |
11: 103,090,650 (GRCm39) |
|
probably null |
Het |
Emc8 |
T |
C |
8: 121,385,294 (GRCm39) |
N146S |
probably benign |
Het |
Glt8d1 |
T |
C |
14: 30,733,478 (GRCm39) |
V321A |
possibly damaging |
Het |
Gm5174 |
C |
T |
10: 86,492,776 (GRCm39) |
|
noncoding transcript |
Het |
Hdac10 |
G |
T |
15: 89,010,912 (GRCm39) |
|
probably null |
Het |
Hectd4 |
A |
G |
5: 121,482,881 (GRCm39) |
D3144G |
possibly damaging |
Het |
Ifna11 |
C |
T |
4: 88,738,473 (GRCm39) |
S93L |
probably damaging |
Het |
Il16 |
T |
C |
7: 83,297,936 (GRCm39) |
N431S |
probably benign |
Het |
Irf8 |
A |
T |
8: 121,481,127 (GRCm39) |
E237V |
probably damaging |
Het |
Lrp1b |
A |
G |
2: 41,075,993 (GRCm39) |
Y1769H |
probably damaging |
Het |
Lrrc9 |
A |
G |
12: 72,524,073 (GRCm39) |
N761D |
probably damaging |
Het |
Mbtps1 |
T |
C |
8: 120,269,469 (GRCm39) |
Y207C |
probably benign |
Het |
Myo9a |
A |
G |
9: 59,739,583 (GRCm39) |
E765G |
probably damaging |
Het |
Nlrp3 |
A |
G |
11: 59,434,177 (GRCm39) |
D80G |
probably damaging |
Het |
Or12k8 |
G |
A |
2: 36,975,188 (GRCm39) |
P191S |
probably damaging |
Het |
Or2ag15 |
G |
C |
7: 106,340,755 (GRCm39) |
P129A |
probably damaging |
Het |
Or7g18 |
A |
T |
9: 18,787,090 (GRCm39) |
I156F |
probably benign |
Het |
Pcyt2 |
T |
A |
11: 120,506,677 (GRCm39) |
|
probably null |
Het |
Plxnd1 |
T |
C |
6: 115,945,642 (GRCm39) |
T944A |
probably benign |
Het |
Prss3b |
A |
G |
6: 41,009,870 (GRCm39) |
|
probably null |
Het |
Psd4 |
A |
T |
2: 24,295,344 (GRCm39) |
I833F |
probably damaging |
Het |
Psmd7 |
A |
G |
8: 108,307,817 (GRCm39) |
I222T |
probably benign |
Het |
Rap2b |
A |
G |
3: 61,272,611 (GRCm39) |
E45G |
probably damaging |
Het |
Rbm22 |
T |
C |
18: 60,693,916 (GRCm39) |
S7P |
possibly damaging |
Het |
Rbpms2 |
ACTGCTGCTGCTGCTGC |
ACTGCTGCTGCTGCTGCTGC |
9: 65,558,948 (GRCm39) |
|
probably benign |
Het |
Rfx4 |
A |
G |
10: 84,680,144 (GRCm39) |
N107S |
probably damaging |
Het |
Ripk2 |
T |
A |
4: 16,155,192 (GRCm39) |
|
probably null |
Het |
Rpgrip1 |
T |
A |
14: 52,378,148 (GRCm39) |
C499S |
possibly damaging |
Het |
Scarf1 |
T |
C |
11: 75,414,870 (GRCm39) |
S515P |
probably damaging |
Het |
Sgip1 |
T |
C |
4: 102,772,256 (GRCm39) |
V215A |
probably benign |
Het |
Sis |
T |
C |
3: 72,796,343 (GRCm39) |
I1813V |
possibly damaging |
Het |
Slc17a3 |
A |
T |
13: 24,040,724 (GRCm39) |
T317S |
probably benign |
Het |
Slc35e1 |
T |
C |
8: 73,237,821 (GRCm39) |
N340S |
probably benign |
Het |
Smg6 |
A |
G |
11: 74,820,256 (GRCm39) |
I176V |
probably benign |
Het |
Smim17 |
T |
C |
7: 6,432,325 (GRCm39) |
L89S |
probably damaging |
Het |
Tdrd9 |
A |
G |
12: 112,002,873 (GRCm39) |
K841E |
possibly damaging |
Het |
Tep1 |
G |
T |
14: 51,092,024 (GRCm39) |
F570L |
possibly damaging |
Het |
Tgm3 |
G |
A |
2: 129,868,734 (GRCm39) |
|
probably null |
Het |
Tra2b |
T |
C |
16: 22,071,496 (GRCm39) |
Y128C |
possibly damaging |
Het |
Vmn2r17 |
T |
C |
5: 109,576,110 (GRCm39) |
V327A |
probably benign |
Het |
Wdr20rt |
A |
T |
12: 65,274,088 (GRCm39) |
D344V |
probably damaging |
Het |
Zfp940 |
A |
G |
7: 29,544,363 (GRCm39) |
C515R |
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 |
R0345:Synm
|
UTSW |
7 |
67,385,569 (GRCm39) |
missense |
probably benign |
0.13 |
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 |
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'- CCAGGTGACTGCAAGTGTATGGTG -3'
(R):5'- TCAGCAGCCGAGCCAATTTAAGAC -3'
Sequencing Primer
(F):5'- CAAGTGTATGGTGGACACCTC -3'
(R):5'- GGCTACAGAGTCTGTTATTACCAGAG -3'
|
Posted On |
2014-05-14 |