Incidental Mutation 'R0847:Synm'
ID |
77017 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Synm
|
Ensembl Gene |
ENSMUSG00000030554 |
Gene Name |
synemin, intermediate filament protein |
Synonyms |
Synemin, 4930412K21Rik, Dmn |
MMRRC Submission |
039026-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0847 (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 67384804 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 511
(I511V)
|
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: I953V
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000050987 Gene: ENSMUSG00000030554 AA Change: I953V
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: I953V
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000073855 Gene: ENSMUSG00000030554 AA Change: I953V
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: I511V
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
|
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.4%
- 20x: 95.2%
|
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: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb1b |
T |
C |
5: 8,895,764 (GRCm39) |
I899T |
probably damaging |
Het |
Ahnak |
C |
T |
19: 8,983,797 (GRCm39) |
Q1694* |
probably null |
Het |
Cblc |
A |
T |
7: 19,524,459 (GRCm39) |
Y260* |
probably null |
Het |
Ccn4 |
T |
G |
15: 66,791,124 (GRCm39) |
C309G |
probably damaging |
Het |
Ceacam5 |
A |
G |
7: 17,491,762 (GRCm39) |
T711A |
possibly damaging |
Het |
Cep63 |
A |
G |
9: 102,465,957 (GRCm39) |
S690P |
probably benign |
Het |
Chia1 |
A |
T |
3: 106,039,253 (GRCm39) |
I448F |
probably benign |
Het |
Dmxl2 |
A |
T |
9: 54,313,112 (GRCm39) |
F1712I |
probably damaging |
Het |
Ecpas |
G |
A |
4: 58,841,439 (GRCm39) |
T645I |
probably benign |
Het |
Exosc3 |
A |
G |
4: 45,319,695 (GRCm39) |
V109A |
probably damaging |
Het |
Fxyd7 |
A |
G |
7: 30,744,029 (GRCm39) |
C60R |
probably damaging |
Het |
Gm17349 |
C |
A |
15: 99,600,289 (GRCm39) |
|
probably benign |
Het |
Gpn2 |
A |
G |
4: 133,315,906 (GRCm39) |
N199D |
probably benign |
Het |
Ints12 |
C |
T |
3: 132,814,603 (GRCm39) |
T270M |
possibly damaging |
Het |
Kdm4a |
C |
T |
4: 118,021,695 (GRCm39) |
E266K |
probably damaging |
Het |
Kremen2 |
G |
T |
17: 23,963,634 (GRCm39) |
T50N |
probably damaging |
Het |
Macf1 |
A |
T |
4: 123,293,159 (GRCm39) |
D1249E |
probably benign |
Het |
Mdga2 |
T |
A |
12: 66,769,854 (GRCm39) |
K146N |
probably damaging |
Het |
Med20 |
G |
A |
17: 47,922,618 (GRCm39) |
|
probably null |
Het |
Myo18b |
T |
C |
5: 113,022,354 (GRCm39) |
|
probably benign |
Het |
Nav3 |
T |
A |
10: 109,739,718 (GRCm39) |
T84S |
possibly damaging |
Het |
Olfm2 |
A |
G |
9: 20,579,953 (GRCm39) |
V266A |
probably damaging |
Het |
Or5b101 |
A |
T |
19: 13,005,095 (GRCm39) |
Y199* |
probably null |
Het |
Or5b123 |
C |
T |
19: 13,596,915 (GRCm39) |
H87Y |
probably benign |
Het |
Or6c69b |
T |
A |
10: 129,627,327 (GRCm39) |
I44F |
probably damaging |
Het |
Pthlh |
A |
T |
6: 147,164,766 (GRCm39) |
|
probably null |
Het |
Rpap3 |
C |
T |
15: 97,601,082 (GRCm39) |
|
probably null |
Het |
Rprd2 |
A |
G |
3: 95,672,725 (GRCm39) |
S893P |
probably benign |
Het |
Sacm1l |
G |
A |
9: 123,377,927 (GRCm39) |
G69D |
probably damaging |
Het |
Slc27a4 |
T |
C |
2: 29,701,261 (GRCm39) |
S351P |
probably benign |
Het |
Sobp |
C |
G |
10: 42,898,415 (GRCm39) |
R390P |
probably damaging |
Het |
Spata7 |
T |
A |
12: 98,614,689 (GRCm39) |
M107K |
possibly damaging |
Het |
Sri |
G |
A |
5: 8,113,755 (GRCm39) |
|
probably null |
Het |
Stab2 |
T |
C |
10: 86,805,735 (GRCm39) |
I204V |
probably benign |
Het |
Tbr1 |
T |
C |
2: 61,635,373 (GRCm39) |
S108P |
probably benign |
Het |
Tln1 |
A |
G |
4: 43,555,333 (GRCm39) |
F197S |
probably damaging |
Het |
Tmem167b |
C |
T |
3: 108,467,537 (GRCm39) |
G46R |
probably benign |
Het |
Tmprss11g |
T |
C |
5: 86,638,585 (GRCm39) |
K301R |
probably benign |
Het |
Tnfrsf21 |
C |
T |
17: 43,349,104 (GRCm39) |
H239Y |
probably benign |
Het |
Trpm2 |
C |
T |
10: 77,765,122 (GRCm39) |
V960M |
possibly damaging |
Het |
Ube3a |
G |
A |
7: 58,926,334 (GRCm39) |
D371N |
possibly damaging |
Het |
Vmn2r57 |
A |
T |
7: 41,078,225 (GRCm39) |
F78I |
probably benign |
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 |
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'- TTGACCTCAGCCATCAAAGTCACAG -3'
(R):5'- TTCTCAATGCGTCCACATCAGACC -3'
Sequencing Primer
(F):5'- GTCACAGAACCACCAGCAG -3'
(R):5'- ATCCGGTACTCATGGCAAG -3'
|
Posted On |
2013-10-16 |