Incidental Mutation 'R6526:Synm'
| ID |
521854 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Synm
|
| Ensembl Gene |
ENSMUSG00000030554 |
| Gene Name |
synemin, intermediate filament protein |
| Synonyms |
Synemin, 4930412K21Rik, Dmn |
| MMRRC Submission |
044652-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6526 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
67379909-67409490 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 67385331 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 777
(V777A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000073855
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051389]
[ENSMUST00000074233]
[ENSMUST00000207102]
[ENSMUST00000208231]
[ENSMUST00000208815]
|
| AlphaFold |
Q70IV5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000051389
AA Change: V777A
PolyPhen 2
Score 0.620 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000050987
Gene: ENSMUSG00000030554
AA Change: V777A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Filament
|
10 |
321 |
2.7e-38 |
PFAM |
|
low complexity region
|
1248 |
1257 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000074233
AA Change: V777A
PolyPhen 2
Score 0.620 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000073855
Gene: ENSMUSG00000030554
AA Change: V777A
| 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 |
possibly damaging
Transcript: ENSMUST00000207102
AA Change: V335A
PolyPhen 2
Score 0.492 (Sensitivity: 0.88; Specificity: 0.90)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208231
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208764
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208815
|
| Meta Mutation Damage Score |
0.0653 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.4%
- 20x: 91.5%
|
| Validation Efficiency |
100% (72/72) |
| 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: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aamp |
A |
G |
1: 74,323,331 (GRCm39) |
|
probably null |
Het |
| Abcc3 |
C |
T |
11: 94,250,198 (GRCm39) |
G975D |
probably benign |
Het |
| Abhd13 |
G |
A |
8: 10,037,777 (GRCm39) |
G125S |
probably damaging |
Het |
| Ache |
T |
A |
5: 137,288,906 (GRCm39) |
L204Q |
probably damaging |
Het |
| Acnat2 |
A |
G |
4: 49,383,497 (GRCm39) |
S19P |
probably benign |
Het |
| Adprh |
A |
G |
16: 38,267,638 (GRCm39) |
Y216H |
probably benign |
Het |
| Anapc1 |
T |
A |
2: 128,514,055 (GRCm39) |
K429* |
probably null |
Het |
| Anxa13 |
T |
C |
15: 58,208,353 (GRCm39) |
|
noncoding transcript |
Het |
| Aprt |
A |
C |
8: 123,303,555 (GRCm39) |
L6W |
probably damaging |
Het |
| Arhgef15 |
T |
C |
11: 68,840,820 (GRCm39) |
T569A |
probably damaging |
Het |
| Atp11a |
T |
C |
8: 12,914,999 (GRCm39) |
L1139P |
probably benign |
Het |
| Atp2b4 |
A |
G |
1: 133,639,467 (GRCm39) |
S1136P |
probably damaging |
Het |
| B9d1 |
T |
A |
11: 61,399,923 (GRCm39) |
Y90* |
probably null |
Het |
| Btla |
G |
A |
16: 45,059,457 (GRCm39) |
A54T |
probably damaging |
Het |
| Cd63 |
T |
C |
10: 128,747,358 (GRCm39) |
V35A |
probably benign |
Het |
| Chek2 |
T |
C |
5: 110,996,556 (GRCm39) |
F173L |
probably damaging |
Het |
| Cntnap3 |
T |
A |
13: 64,929,702 (GRCm39) |
N499I |
possibly damaging |
Het |
| Cog4 |
T |
C |
8: 111,608,418 (GRCm39) |
L738P |
probably damaging |
Het |
| Cops6 |
T |
C |
5: 138,162,162 (GRCm39) |
|
probably null |
Het |
| Cpeb1 |
T |
A |
7: 81,011,417 (GRCm39) |
I175F |
probably benign |
Het |
| Cyp3a16 |
C |
T |
5: 145,392,705 (GRCm39) |
D174N |
probably benign |
Het |
| Dnah6 |
T |
G |
6: 73,051,687 (GRCm39) |
I2984L |
probably benign |
Het |
| Dock10 |
A |
T |
1: 80,564,068 (GRCm39) |
I540N |
probably damaging |
Het |
| Elf5 |
A |
G |
2: 103,269,578 (GRCm39) |
Y53C |
probably damaging |
Het |
| Elmod2 |
T |
C |
8: 84,046,086 (GRCm39) |
T164A |
probably damaging |
Het |
| Elp1 |
T |
C |
4: 56,798,812 (GRCm39) |
|
probably null |
Het |
| Epn3 |
A |
G |
11: 94,385,758 (GRCm39) |
|
probably null |
Het |
| Fam151a |
A |
T |
4: 106,591,201 (GRCm39) |
I15F |
possibly damaging |
Het |
| Gm11115 |
T |
A |
5: 88,301,909 (GRCm39) |
|
probably null |
Het |
| Golga3 |
T |
A |
5: 110,352,761 (GRCm39) |
I884N |
probably damaging |
Het |
| Gria2 |
A |
T |
3: 80,599,776 (GRCm39) |
F703I |
probably damaging |
Het |
| Gtf2h3 |
C |
T |
5: 124,722,360 (GRCm39) |
T121I |
probably benign |
Het |
| Gtpbp2 |
A |
T |
17: 46,475,037 (GRCm39) |
|
probably null |
Het |
| Herc2 |
T |
C |
7: 55,807,078 (GRCm39) |
S2419P |
probably damaging |
Het |
| Inpp5d |
T |
C |
1: 87,603,972 (GRCm39) |
|
probably benign |
Het |
| Kdm2b |
C |
A |
5: 123,099,532 (GRCm39) |
V136F |
probably damaging |
Het |
| Klra2 |
T |
A |
6: 131,198,839 (GRCm39) |
D234V |
probably benign |
Het |
| Lct |
A |
T |
1: 128,228,215 (GRCm39) |
S1093T |
probably benign |
Het |
| Marchf9 |
A |
G |
10: 126,892,558 (GRCm39) |
L310P |
probably benign |
Het |
| Morc1 |
G |
T |
16: 48,407,487 (GRCm39) |
E668* |
probably null |
Het |
| Nbas |
A |
T |
12: 13,455,426 (GRCm39) |
L1213F |
probably damaging |
Het |
| Neto1 |
A |
G |
18: 86,516,873 (GRCm39) |
T397A |
possibly damaging |
Het |
| Oit3 |
A |
G |
10: 59,265,462 (GRCm39) |
C268R |
probably damaging |
Het |
| Or5p55 |
A |
G |
7: 107,566,669 (GRCm39) |
T22A |
probably benign |
Het |
| Pcx |
T |
C |
19: 4,654,523 (GRCm39) |
F312L |
probably benign |
Het |
| Pitx2 |
T |
C |
3: 129,008,432 (GRCm39) |
|
probably null |
Het |
| Pkhd1l1 |
G |
A |
15: 44,361,485 (GRCm39) |
|
probably null |
Het |
| Polr1a |
C |
A |
6: 71,906,427 (GRCm39) |
D414E |
possibly damaging |
Het |
| Pramel27 |
A |
G |
4: 143,579,384 (GRCm39) |
D323G |
probably damaging |
Het |
| Prkch |
T |
C |
12: 73,749,549 (GRCm39) |
Y381H |
probably damaging |
Het |
| Ptger3 |
T |
A |
3: 157,273,139 (GRCm39) |
V162E |
probably damaging |
Het |
| Ptgr2 |
T |
G |
12: 84,360,726 (GRCm39) |
M332R |
probably damaging |
Het |
| Ptprq |
G |
T |
10: 107,378,514 (GRCm39) |
S2009* |
probably null |
Het |
| Pwwp3a |
A |
G |
10: 80,068,113 (GRCm39) |
T86A |
probably benign |
Het |
| Rangrf |
C |
T |
11: 68,864,514 (GRCm39) |
G11R |
probably damaging |
Het |
| Rbl2 |
A |
T |
8: 91,823,467 (GRCm39) |
Q465L |
probably benign |
Het |
| Rhbdd1 |
A |
T |
1: 82,318,380 (GRCm39) |
M88L |
probably benign |
Het |
| Setd2 |
G |
A |
9: 110,361,785 (GRCm39) |
M13I |
probably benign |
Het |
| Sirpb1a |
T |
C |
3: 15,444,080 (GRCm39) |
Y384C |
probably damaging |
Het |
| Slc13a1 |
C |
T |
6: 24,097,611 (GRCm39) |
G439S |
probably damaging |
Het |
| Slc41a1 |
T |
A |
1: 131,768,887 (GRCm39) |
I239N |
probably damaging |
Het |
| Slit2 |
T |
A |
5: 48,461,509 (GRCm39) |
C1502S |
probably damaging |
Het |
| Slit3 |
G |
A |
11: 35,552,119 (GRCm39) |
E888K |
probably benign |
Het |
| Srrm3 |
G |
T |
5: 135,864,088 (GRCm39) |
R62L |
probably damaging |
Het |
| Trmt13 |
T |
A |
3: 116,385,864 (GRCm39) |
N31I |
probably damaging |
Het |
| Trpm8 |
G |
A |
1: 88,289,720 (GRCm39) |
E893K |
probably damaging |
Het |
| Uqcc1 |
A |
G |
2: 155,693,343 (GRCm39) |
F197S |
probably damaging |
Het |
| Vmn1r67 |
T |
A |
7: 10,181,598 (GRCm39) |
N287K |
probably benign |
Het |
| Vmn2r44 |
A |
T |
7: 8,381,098 (GRCm39) |
M265K |
probably benign |
Het |
| Wwc1 |
C |
T |
11: 35,744,264 (GRCm39) |
E853K |
probably benign |
Het |
| Xdh |
C |
A |
17: 74,207,546 (GRCm39) |
C937F |
probably damaging |
Het |
| Zfp846 |
T |
A |
9: 20,505,167 (GRCm39) |
N342K |
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 |
|
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 |
|
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'- GGGTAGACACAAAATAGCTCTGC -3'
(R):5'- TTCTGATGAAGCAGGCCTGG -3'
Sequencing Primer
(F):5'- AAAATAGCTCTGCTCCCCCTCTG -3'
(R):5'- GGACTACCTTCTAAGCAAGGATGTC -3'
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| Posted On |
2018-06-06 |
Incidental Mutation