Incidental Mutation 'R6612:Synm'
| ID |
523671 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Synm
|
| Ensembl Gene |
ENSMUSG00000030554 |
| Gene Name |
synemin, intermediate filament protein |
| Synonyms |
Synemin, 4930412K21Rik, Dmn |
| MMRRC Submission |
044735-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6612 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
67379909-67409490 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to C
at 67383264 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 1466
(T1466S)
|
| 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: T1164S
PolyPhen 2
Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000050987
Gene: ENSMUSG00000030554
AA Change: T1164S
| 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: T1466S
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000073855
Gene: ENSMUSG00000030554
AA Change: T1466S
| 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: T722S
PolyPhen 2
Score 0.078 (Sensitivity: 0.93; Specificity: 0.85)
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000208231
AA Change: D348E
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208764
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208815
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.4%
|
| Validation Efficiency |
95% (59/62) |
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930523C07Rik |
A |
C |
1: 159,902,804 (GRCm39) |
N25H |
probably damaging |
Het |
| Akr1c14 |
A |
T |
13: 4,115,331 (GRCm39) |
S87C |
probably benign |
Het |
| Arhgef37 |
T |
C |
18: 61,627,952 (GRCm39) |
T664A |
probably benign |
Het |
| Arsi |
A |
G |
18: 61,045,528 (GRCm39) |
T73A |
probably benign |
Het |
| Cacnb2 |
A |
T |
2: 14,979,960 (GRCm39) |
T274S |
probably benign |
Het |
| Cd244a |
A |
G |
1: 171,401,672 (GRCm39) |
T133A |
probably benign |
Het |
| Cep20 |
TTGTG |
TTG |
16: 14,118,009 (GRCm39) |
|
probably null |
Het |
| Ciz1 |
T |
A |
2: 32,267,323 (GRCm39) |
S720T |
possibly damaging |
Het |
| Cxcr6 |
T |
A |
9: 123,639,785 (GRCm39) |
I262N |
probably damaging |
Het |
| Cyp2a4 |
T |
A |
7: 26,008,072 (GRCm39) |
F160I |
probably benign |
Het |
| Esrra |
T |
C |
19: 6,889,220 (GRCm39) |
T390A |
probably benign |
Het |
| Gm17079 |
T |
A |
14: 51,931,833 (GRCm39) |
Q91L |
possibly damaging |
Het |
| Gm17079 |
C |
A |
14: 51,931,832 (GRCm39) |
Q91H |
probably damaging |
Het |
| Got1 |
A |
G |
19: 43,493,242 (GRCm39) |
S256P |
probably damaging |
Het |
| Gria4 |
C |
T |
9: 4,472,206 (GRCm39) |
V428I |
possibly damaging |
Het |
| Grin2b |
A |
G |
6: 135,717,996 (GRCm39) |
Y699H |
probably damaging |
Het |
| Hipk2 |
T |
C |
6: 38,795,808 (GRCm39) |
I154V |
probably benign |
Het |
| Hkdc1 |
T |
C |
10: 62,231,220 (GRCm39) |
E628G |
possibly damaging |
Het |
| Hmcn1 |
C |
G |
1: 150,470,869 (GRCm39) |
|
probably null |
Het |
| Hspbap1 |
T |
G |
16: 35,621,961 (GRCm39) |
L102W |
probably damaging |
Het |
| Iqcb1 |
G |
A |
16: 36,692,023 (GRCm39) |
|
probably benign |
Het |
| Itga7 |
A |
G |
10: 128,784,862 (GRCm39) |
Y763C |
possibly damaging |
Het |
| Itgb4 |
A |
T |
11: 115,874,897 (GRCm39) |
D418V |
probably benign |
Het |
| Jakmip2 |
T |
C |
18: 43,690,432 (GRCm39) |
D631G |
probably damaging |
Het |
| Kcnc2 |
G |
C |
10: 112,107,761 (GRCm39) |
G51R |
probably benign |
Het |
| Kcnu1 |
A |
G |
8: 26,408,344 (GRCm39) |
I52V |
probably benign |
Het |
| Kdm5a |
T |
C |
6: 120,407,189 (GRCm39) |
I1468T |
probably damaging |
Het |
| Kmt2d |
A |
G |
15: 98,743,739 (GRCm39) |
|
probably benign |
Het |
| Mab21l3 |
A |
G |
3: 101,725,961 (GRCm39) |
V345A |
possibly damaging |
Het |
| Marchf10 |
A |
T |
11: 105,287,904 (GRCm39) |
S133T |
probably damaging |
Het |
| Mccc1 |
T |
C |
3: 36,048,079 (GRCm39) |
S115G |
probably benign |
Het |
| Mchr1 |
G |
A |
15: 81,122,071 (GRCm39) |
V274M |
probably damaging |
Het |
| Mrgpra3 |
T |
A |
7: 47,239,783 (GRCm39) |
I48F |
probably benign |
Het |
| Myo9a |
T |
A |
9: 59,734,479 (GRCm39) |
F687Y |
probably damaging |
Het |
| Nfrkb |
T |
A |
9: 31,308,302 (GRCm39) |
L216* |
probably null |
Het |
| Nrxn3 |
A |
T |
12: 89,780,102 (GRCm39) |
|
probably benign |
Het |
| Olig2 |
T |
A |
16: 91,023,769 (GRCm39) |
M161K |
probably damaging |
Het |
| Or11h7 |
A |
T |
14: 50,891,090 (GRCm39) |
Y132F |
probably damaging |
Het |
| Pcdh15 |
T |
A |
10: 74,021,210 (GRCm39) |
N141K |
probably damaging |
Het |
| Pcdha4 |
T |
C |
18: 37,088,031 (GRCm39) |
V738A |
probably benign |
Het |
| Pdgfra |
T |
C |
5: 75,328,503 (GRCm39) |
S212P |
probably benign |
Het |
| Plk3 |
G |
A |
4: 116,989,934 (GRCm39) |
Q194* |
probably null |
Het |
| Ppp1r36 |
T |
C |
12: 76,484,378 (GRCm39) |
I216T |
possibly damaging |
Het |
| Ptprz1 |
T |
A |
6: 23,052,081 (GRCm39) |
N2303K |
probably damaging |
Het |
| Rab25 |
G |
A |
3: 88,450,710 (GRCm39) |
T117M |
probably damaging |
Het |
| Relch |
T |
A |
1: 105,619,732 (GRCm39) |
D320E |
possibly damaging |
Het |
| Slc25a47 |
T |
C |
12: 108,821,904 (GRCm39) |
V231A |
probably benign |
Het |
| Slx4 |
G |
A |
16: 3,803,140 (GRCm39) |
H1225Y |
probably damaging |
Het |
| Snx13 |
C |
T |
12: 35,156,758 (GRCm39) |
A470V |
probably benign |
Het |
| Spa17 |
A |
G |
9: 37,517,090 (GRCm39) |
F101S |
probably benign |
Het |
| Ssh1 |
C |
T |
5: 114,096,791 (GRCm39) |
A217T |
probably benign |
Het |
| Stimate |
T |
A |
14: 30,593,521 (GRCm39) |
|
probably null |
Het |
| Tbc1d19 |
A |
G |
5: 53,967,187 (GRCm39) |
E29G |
possibly damaging |
Het |
| Teddm2 |
T |
A |
1: 153,726,191 (GRCm39) |
T175S |
probably benign |
Het |
| Tet2 |
T |
A |
3: 133,193,096 (GRCm39) |
H446L |
possibly damaging |
Het |
| Tpm3-rs7 |
G |
T |
14: 113,552,268 (GRCm39) |
R54L |
probably benign |
Het |
| Ttc5 |
T |
A |
14: 51,022,926 (GRCm39) |
|
probably null |
Het |
| Tyk2 |
G |
T |
9: 21,019,312 (GRCm39) |
Q1014K |
probably benign |
Het |
| Ush2a |
T |
C |
1: 188,643,594 (GRCm39) |
S4319P |
possibly damaging |
Het |
| Zbtb10 |
C |
A |
3: 9,317,125 (GRCm39) |
H312Q |
possibly damaging |
Het |
| Zfp462 |
A |
T |
4: 55,012,324 (GRCm39) |
|
probably null |
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 |
|
R6526:Synm
|
UTSW |
7 |
67,385,331 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
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'- TGTCAAATCCAGCCTGCTCC -3'
(R):5'- AGGTCCTTTCGGCACATTC -3'
Sequencing Primer
(F):5'- CGTGCCTTTCTCTCCAGGGG -3'
(R):5'- CTGAATACTTTGTCACCGGGAGAC -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation