Incidental Mutation 'R8177:Synm'
ID |
634414 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Synm
|
Ensembl Gene |
ENSMUSG00000030554 |
Gene Name |
synemin, intermediate filament protein |
Synonyms |
Synemin, 4930412K21Rik, Dmn |
MMRRC Submission |
067602-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8177 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
67379909-67409490 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 67383813 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 1283
(D1283G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000073855
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051389]
[ENSMUST00000074233]
[ENSMUST00000207102]
[ENSMUST00000208231]
[ENSMUST00000208815]
|
AlphaFold |
Q70IV5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000051389
|
SMART Domains |
Protein: ENSMUSP00000050987 Gene: ENSMUSG00000030554
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 benign
Transcript: ENSMUST00000074233
AA Change: D1283G
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000073855 Gene: ENSMUSG00000030554 AA Change: D1283G
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
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000208231
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000208764
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000208815
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
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: 71 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9830107B12Rik |
A |
T |
17: 48,439,174 (GRCm39) |
Y127* |
probably null |
Het |
Abcb5 |
C |
T |
12: 118,836,525 (GRCm39) |
V1129I |
possibly damaging |
Het |
Abcc2 |
A |
G |
19: 43,795,519 (GRCm39) |
D425G |
probably damaging |
Het |
Adamts15 |
T |
A |
9: 30,833,322 (GRCm39) |
D71V |
probably damaging |
Het |
Add1 |
A |
G |
5: 34,774,049 (GRCm39) |
H435R |
possibly damaging |
Het |
Akr1c19 |
A |
G |
13: 4,292,591 (GRCm39) |
N204S |
probably benign |
Het |
Ankub1 |
C |
A |
3: 57,597,837 (GRCm39) |
R44S |
possibly damaging |
Het |
Ano3 |
T |
A |
2: 110,496,801 (GRCm39) |
N783Y |
probably damaging |
Het |
Bbs9 |
A |
G |
9: 22,425,359 (GRCm39) |
M138V |
probably benign |
Het |
Ccdc18 |
G |
A |
5: 108,345,661 (GRCm39) |
E936K |
possibly damaging |
Het |
Cit |
T |
G |
5: 116,126,218 (GRCm39) |
L1604V |
probably benign |
Het |
Col2a1 |
T |
A |
15: 97,874,654 (GRCm39) |
S1396C |
unknown |
Het |
Col3a1 |
G |
C |
1: 45,374,924 (GRCm39) |
G653R |
unknown |
Het |
Col6a1 |
T |
C |
10: 76,560,863 (GRCm39) |
E45G |
probably damaging |
Het |
Col9a3 |
T |
A |
2: 180,249,450 (GRCm39) |
F271I |
probably damaging |
Het |
Cyp2g1 |
C |
A |
7: 26,518,578 (GRCm39) |
D364E |
probably damaging |
Het |
Dmbt1 |
T |
A |
7: 130,708,162 (GRCm39) |
V1457D |
possibly damaging |
Het |
Dnah17 |
A |
T |
11: 118,019,753 (GRCm39) |
I98N |
possibly damaging |
Het |
Dyrk1b |
T |
A |
7: 27,882,601 (GRCm39) |
M222K |
possibly damaging |
Het |
Epha8 |
T |
C |
4: 136,672,974 (GRCm39) |
D270G |
probably benign |
Het |
Fbxw17 |
T |
C |
13: 50,579,660 (GRCm39) |
L159P |
probably damaging |
Het |
Fgl2 |
G |
A |
5: 21,578,307 (GRCm39) |
|
probably null |
Het |
Fmnl1 |
A |
T |
11: 103,080,785 (GRCm39) |
M309L |
probably damaging |
Het |
Fn1 |
T |
C |
1: 71,648,746 (GRCm39) |
I1479V |
probably benign |
Het |
Gm11939 |
A |
T |
11: 99,450,124 (GRCm39) |
S57T |
possibly damaging |
Het |
Gm9195 |
C |
T |
14: 72,697,977 (GRCm39) |
A1268T |
possibly damaging |
Het |
Gnpda1 |
A |
G |
18: 38,466,348 (GRCm39) |
W90R |
possibly damaging |
Het |
Igkv5-43 |
T |
A |
6: 69,800,445 (GRCm39) |
R81W |
probably damaging |
Het |
Mapk3 |
T |
A |
7: 126,362,937 (GRCm39) |
W230R |
probably null |
Het |
Mplkip |
A |
G |
13: 17,870,205 (GRCm39) |
S46G |
probably benign |
Het |
Mrs2 |
T |
C |
13: 25,188,961 (GRCm39) |
T118A |
probably benign |
Het |
Mst1r |
T |
A |
9: 107,784,784 (GRCm39) |
H147Q |
probably damaging |
Het |
Muc5ac |
G |
C |
7: 141,361,068 (GRCm39) |
G1460R |
probably damaging |
Het |
Myorg |
G |
T |
4: 41,497,568 (GRCm39) |
Y687* |
probably null |
Het |
Naip1 |
T |
C |
13: 100,563,911 (GRCm39) |
H418R |
probably benign |
Het |
Ncapg |
A |
G |
5: 45,851,095 (GRCm39) |
T763A |
probably benign |
Het |
Nr6a1 |
T |
C |
2: 38,619,510 (GRCm39) |
I462V |
probably benign |
Het |
Nudcd3 |
T |
C |
11: 6,143,460 (GRCm39) |
D70G |
possibly damaging |
Het |
Nup210 |
A |
G |
6: 90,991,470 (GRCm39) |
S1858P |
probably benign |
Het |
Or12e13 |
T |
A |
2: 87,663,512 (GRCm39) |
I43N |
probably benign |
Het |
Or5aq1 |
C |
A |
2: 86,966,294 (GRCm39) |
V124L |
possibly damaging |
Het |
Or6a2 |
G |
C |
7: 106,600,663 (GRCm39) |
L135V |
probably damaging |
Het |
Or6c205 |
A |
G |
10: 129,086,790 (GRCm39) |
H129R |
probably benign |
Het |
Or8k33 |
T |
A |
2: 86,383,623 (GRCm39) |
I282F |
noncoding transcript |
Het |
Pde4dip |
T |
C |
3: 97,674,848 (GRCm39) |
T23A |
probably damaging |
Het |
Pex6 |
A |
G |
17: 47,024,988 (GRCm39) |
Q347R |
probably benign |
Het |
Rbm27 |
A |
G |
18: 42,457,175 (GRCm39) |
K694R |
probably damaging |
Het |
Rnf40 |
T |
G |
7: 127,195,322 (GRCm39) |
D549E |
probably benign |
Het |
Rpl22 |
A |
G |
4: 152,411,968 (GRCm39) |
K15E |
probably damaging |
Het |
Rsph6a |
T |
A |
7: 18,808,164 (GRCm39) |
D697E |
unknown |
Het |
Sec23b |
C |
T |
2: 144,427,543 (GRCm39) |
P590L |
probably benign |
Het |
Semp2l1 |
T |
C |
1: 32,585,457 (GRCm39) |
E151G |
probably benign |
Het |
Slc17a7 |
T |
A |
7: 44,824,356 (GRCm39) |
M524K |
probably benign |
Het |
Slc28a1 |
G |
A |
7: 80,814,164 (GRCm39) |
D454N |
probably benign |
Het |
Slc6a13 |
C |
T |
6: 121,301,987 (GRCm39) |
R190* |
probably null |
Het |
Slc7a9 |
G |
A |
7: 35,155,558 (GRCm39) |
V257I |
probably benign |
Het |
Slco1a6 |
T |
A |
6: 142,047,460 (GRCm39) |
M377L |
probably damaging |
Het |
Slit3 |
A |
G |
11: 35,469,919 (GRCm39) |
E307G |
probably damaging |
Het |
Smchd1 |
A |
G |
17: 71,697,448 (GRCm39) |
M1164T |
probably benign |
Het |
Stk4 |
T |
C |
2: 163,930,777 (GRCm39) |
I126T |
probably damaging |
Het |
Syndig1 |
A |
T |
2: 149,741,788 (GRCm39) |
S125C |
probably damaging |
Het |
Tmprss6 |
T |
C |
15: 78,349,327 (GRCm39) |
M73V |
probably benign |
Het |
Tmprss9 |
A |
G |
10: 80,730,882 (GRCm39) |
I803V |
probably benign |
Het |
Tmx4 |
A |
T |
2: 134,485,822 (GRCm39) |
V35E |
probably damaging |
Het |
Topbp1 |
T |
G |
9: 103,197,740 (GRCm39) |
S440A |
probably benign |
Het |
Twf1 |
T |
C |
15: 94,482,276 (GRCm39) |
I157V |
possibly damaging |
Het |
Vmn1r205 |
T |
C |
13: 22,776,415 (GRCm39) |
N229S |
probably benign |
Het |
Vmn1r27 |
T |
A |
6: 58,192,759 (GRCm39) |
I82L |
probably benign |
Het |
Vmn2r112 |
A |
G |
17: 22,822,594 (GRCm39) |
N424S |
possibly damaging |
Het |
Vmn2r68 |
A |
T |
7: 84,871,422 (GRCm39) |
Y620* |
probably null |
Het |
Zfp51 |
A |
G |
17: 21,684,129 (GRCm39) |
D248G |
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 |
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 |
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'- ATTGTGCCTGCTGAACCTTC -3'
(R):5'- TGTGGGAGCTGACATCTCAG -3'
Sequencing Primer
(F):5'- CCACCATAACCATGTCTTCTGAG -3'
(R):5'- TCTGAGCGGTCTCACACTGAG -3'
|
Posted On |
2020-07-13 |