Incidental Mutation 'R0919:Synm'
ID |
82778 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Synm
|
Ensembl Gene |
ENSMUSG00000030554 |
Gene Name |
synemin, intermediate filament protein |
Synonyms |
Synemin, 4930412K21Rik, Dmn |
MMRRC Submission |
039069-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0919 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
67379909-67409490 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 67385095 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 414
(I414V)
|
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: I856V
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000050987 Gene: ENSMUSG00000030554 AA Change: I856V
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: I856V
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000073855 Gene: ENSMUSG00000030554 AA Change: I856V
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: I414V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000208231
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000208764
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000208815
|
Meta Mutation Damage Score |
0.1302 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.6%
|
Validation Efficiency |
96% (43/45) |
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: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Alpk2 |
C |
A |
18: 65,440,544 (GRCm39) |
C283F |
probably benign |
Het |
Anapc1 |
T |
C |
2: 128,459,651 (GRCm39) |
R1803G |
probably benign |
Het |
Anapc4 |
T |
C |
5: 53,012,979 (GRCm39) |
V423A |
probably benign |
Het |
Arfgef3 |
A |
G |
10: 18,465,483 (GRCm39) |
I2120T |
possibly damaging |
Het |
Btaf1 |
T |
A |
19: 36,968,143 (GRCm39) |
H1109Q |
probably benign |
Het |
Cfap418 |
A |
G |
4: 10,882,462 (GRCm39) |
T124A |
probably benign |
Het |
Cfap70 |
G |
A |
14: 20,454,232 (GRCm39) |
P851S |
probably benign |
Het |
Clcf1 |
T |
A |
19: 4,272,252 (GRCm39) |
L103Q |
probably damaging |
Het |
Col11a2 |
T |
A |
17: 34,278,124 (GRCm39) |
V1032E |
possibly damaging |
Het |
Cyp2c38 |
T |
G |
19: 39,393,113 (GRCm39) |
D318A |
probably benign |
Het |
Dbpht2 |
A |
G |
12: 74,345,774 (GRCm39) |
|
noncoding transcript |
Het |
Dhx34 |
A |
C |
7: 15,935,883 (GRCm39) |
V893G |
probably damaging |
Het |
Fsip2 |
T |
A |
2: 82,815,828 (GRCm39) |
C3854S |
possibly damaging |
Het |
Htr1a |
T |
C |
13: 105,581,344 (GRCm39) |
Y195H |
probably damaging |
Het |
Insr |
A |
G |
8: 3,208,769 (GRCm39) |
S1231P |
probably damaging |
Het |
Itga10 |
C |
T |
3: 96,559,054 (GRCm39) |
|
probably benign |
Het |
Kpna4 |
A |
T |
3: 68,993,161 (GRCm39) |
|
probably benign |
Het |
Or52d13 |
A |
G |
7: 103,110,019 (GRCm39) |
I132T |
probably damaging |
Het |
Or52e8 |
A |
T |
7: 104,624,519 (GRCm39) |
Y228* |
probably null |
Het |
Or5m3 |
A |
G |
2: 85,838,984 (GRCm39) |
Y288C |
possibly damaging |
Het |
Osbpl7 |
G |
A |
11: 96,946,927 (GRCm39) |
R239H |
possibly damaging |
Het |
Prkce |
G |
A |
17: 86,937,588 (GRCm39) |
V674I |
probably benign |
Het |
Prkrip1 |
T |
C |
5: 136,226,685 (GRCm39) |
M52V |
possibly damaging |
Het |
Sash1 |
A |
G |
10: 8,605,843 (GRCm39) |
M849T |
probably benign |
Het |
Scaf8 |
T |
C |
17: 3,247,395 (GRCm39) |
L906S |
probably damaging |
Het |
Sfmbt2 |
T |
C |
2: 10,582,382 (GRCm39) |
L676P |
probably benign |
Het |
Sgsm1 |
C |
T |
5: 113,406,708 (GRCm39) |
V923I |
probably damaging |
Het |
Slc38a3 |
A |
T |
9: 107,533,158 (GRCm39) |
L305Q |
probably damaging |
Het |
Slc44a5 |
A |
G |
3: 153,949,223 (GRCm39) |
Y232C |
probably damaging |
Het |
Spag17 |
A |
T |
3: 99,979,259 (GRCm39) |
|
probably benign |
Het |
Tbc1d12 |
C |
T |
19: 38,902,493 (GRCm39) |
H551Y |
possibly damaging |
Het |
Timm21 |
G |
C |
18: 84,967,387 (GRCm39) |
L130V |
probably damaging |
Het |
Trpc7 |
C |
T |
13: 56,970,462 (GRCm39) |
|
probably benign |
Het |
Trpm7 |
G |
A |
2: 126,673,158 (GRCm39) |
R532C |
probably damaging |
Het |
Ttn |
T |
A |
2: 76,777,086 (GRCm39) |
K1485* |
probably null |
Het |
Txn2 |
T |
C |
15: 77,811,949 (GRCm39) |
D69G |
probably damaging |
Het |
U2af2 |
C |
T |
7: 5,072,433 (GRCm39) |
|
probably benign |
Het |
Ubn1 |
T |
C |
16: 4,882,255 (GRCm39) |
Y239H |
probably damaging |
Het |
Ubtf |
A |
G |
11: 102,200,603 (GRCm39) |
|
probably benign |
Het |
Usp49 |
T |
A |
17: 47,983,376 (GRCm39) |
V127D |
probably benign |
Het |
Washc2 |
C |
T |
6: 116,185,225 (GRCm39) |
R20W |
probably damaging |
Het |
Zscan10 |
T |
C |
17: 23,828,981 (GRCm39) |
S476P |
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 |
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'- AGAAACGCTCCCTGACTCTCCTTG -3'
(R):5'- TTCTCAATGCGTCCACATCAGACC -3'
Sequencing Primer
(F):5'- CAATGACTGTGGGTTCAGCAC -3'
(R):5'- CAAACAGCCCCAGGGGAC -3'
|
Posted On |
2013-11-08 |