Incidental Mutation 'R9281:Synm'
ID |
703627 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Synm
|
Ensembl Gene |
ENSMUSG00000030554 |
Gene Name |
synemin, intermediate filament protein |
Synonyms |
Synemin, 4930412K21Rik, Dmn |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R9281 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
67379909-67409490 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
A to T
at 67386048 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Stop codon
at position 538
(L538*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000073855
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051389]
[ENSMUST00000074233]
[ENSMUST00000207102]
[ENSMUST00000208231]
[ENSMUST00000208815]
|
AlphaFold |
Q70IV5 |
Predicted Effect |
probably null
Transcript: ENSMUST00000051389
AA Change: L538*
|
SMART Domains |
Protein: ENSMUSP00000050987 Gene: ENSMUSG00000030554 AA Change: L538*
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 null
Transcript: ENSMUST00000074233
AA Change: L538*
|
SMART Domains |
Protein: ENSMUSP00000073855 Gene: ENSMUSG00000030554 AA Change: L538*
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 null
Transcript: ENSMUST00000207102
AA Change: L96*
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000208231
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000208764
|
Predicted Effect |
probably null
Transcript: ENSMUST00000208815
AA Change: L538*
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 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: 72 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2610021A01Rik |
A |
G |
7: 41,274,184 (GRCm39) |
I102M |
possibly damaging |
Het |
2700049A03Rik |
G |
A |
12: 71,205,687 (GRCm39) |
V444I |
possibly damaging |
Het |
Afdn |
T |
A |
17: 14,024,270 (GRCm39) |
C59S |
probably damaging |
Het |
Ano1 |
A |
T |
7: 144,149,318 (GRCm39) |
Y848N |
probably damaging |
Het |
Arap2 |
C |
T |
5: 62,906,848 (GRCm39) |
R57H |
probably damaging |
Het |
Atp10b |
C |
T |
11: 43,116,458 (GRCm39) |
T935I |
probably benign |
Het |
Bcl11b |
A |
G |
12: 107,882,257 (GRCm39) |
L686P |
possibly damaging |
Het |
Bmp5 |
T |
C |
9: 75,683,856 (GRCm39) |
V161A |
probably benign |
Het |
C1qtnf3 |
A |
G |
15: 10,978,607 (GRCm39) |
E196G |
probably benign |
Het |
Cacng8 |
T |
A |
7: 3,460,608 (GRCm39) |
F130L |
probably damaging |
Het |
Cap1 |
A |
G |
4: 122,766,226 (GRCm39) |
M4T |
probably benign |
Het |
Ccdc57 |
T |
C |
11: 120,751,413 (GRCm39) |
K886E |
probably benign |
Het |
Cdhr2 |
A |
C |
13: 54,881,703 (GRCm39) |
T1112P |
possibly damaging |
Het |
Clcn4 |
A |
T |
7: 7,294,813 (GRCm39) |
M316K |
probably benign |
Het |
Col22a1 |
A |
T |
15: 71,732,920 (GRCm39) |
D1099E |
unknown |
Het |
Csmd3 |
A |
C |
15: 47,460,272 (GRCm39) |
N2595K |
|
Het |
Ctdspl2 |
A |
G |
2: 121,841,063 (GRCm39) |
H451R |
probably benign |
Het |
Cybrd1 |
A |
T |
2: 70,968,735 (GRCm39) |
T203S |
probably benign |
Het |
Dhx29 |
A |
G |
13: 113,078,240 (GRCm39) |
N312S |
possibly damaging |
Het |
Dhx30 |
A |
T |
9: 109,929,983 (GRCm39) |
S38T |
probably benign |
Het |
Dync2i1 |
G |
A |
12: 116,211,677 (GRCm39) |
R277* |
probably null |
Het |
Ercc8 |
G |
T |
13: 108,320,364 (GRCm39) |
A317S |
probably benign |
Het |
Fndc3a |
T |
C |
14: 72,799,097 (GRCm39) |
T629A |
probably benign |
Het |
Frmpd1 |
G |
T |
4: 45,284,127 (GRCm39) |
A983S |
probably benign |
Het |
Gm14325 |
T |
A |
2: 177,473,597 (GRCm39) |
Y495F |
probably damaging |
Het |
Gm5773 |
A |
T |
3: 93,680,891 (GRCm39) |
T188S |
probably benign |
Het |
Gpsm1 |
C |
A |
2: 26,214,488 (GRCm39) |
N243K |
probably damaging |
Het |
Inpp4a |
C |
G |
1: 37,410,850 (GRCm39) |
H339Q |
probably damaging |
Het |
Kat2b |
A |
G |
17: 53,931,425 (GRCm39) |
D141G |
probably benign |
Het |
Kdm4a |
A |
G |
4: 117,995,728 (GRCm39) |
V1003A |
probably damaging |
Het |
Lrrc25 |
T |
A |
8: 71,073,246 (GRCm39) |
M276K |
probably benign |
Het |
Ltbp2 |
G |
A |
12: 84,837,864 (GRCm39) |
P1192L |
probably benign |
Het |
Mcmdc2 |
G |
A |
1: 9,994,425 (GRCm39) |
G406D |
probably damaging |
Het |
Mfhas1 |
G |
T |
8: 36,057,951 (GRCm39) |
A809S |
probably benign |
Het |
Mier2 |
A |
T |
10: 79,378,294 (GRCm39) |
D376E |
probably benign |
Het |
Mllt3 |
A |
C |
4: 87,707,566 (GRCm39) |
H464Q |
probably benign |
Het |
Mtrex |
A |
T |
13: 113,046,443 (GRCm39) |
C302* |
probably null |
Het |
Myo6 |
T |
A |
9: 80,162,164 (GRCm39) |
Y300* |
probably null |
Het |
Myzap |
T |
C |
9: 71,493,482 (GRCm39) |
D31G |
unknown |
Het |
Nfatc1 |
T |
C |
18: 80,741,190 (GRCm39) |
Y270C |
probably damaging |
Het |
Nsd3 |
T |
C |
8: 26,152,961 (GRCm39) |
S434P |
probably benign |
Het |
Or13p3 |
A |
G |
4: 118,566,592 (GRCm39) |
|
probably benign |
Het |
Or1e26 |
T |
A |
11: 73,480,133 (GRCm39) |
M144L |
probably benign |
Het |
Osbp2 |
T |
A |
11: 3,813,375 (GRCm39) |
T165S |
probably benign |
Het |
Plxna1 |
A |
G |
6: 89,300,313 (GRCm39) |
V1590A |
probably damaging |
Het |
Pramel7 |
A |
G |
2: 87,321,495 (GRCm39) |
L180P |
probably damaging |
Het |
Prkd1 |
C |
T |
12: 50,536,758 (GRCm39) |
D109N |
probably benign |
Het |
Ptger3 |
A |
G |
3: 157,273,090 (GRCm39) |
M146V |
probably benign |
Het |
Pts |
A |
G |
9: 50,433,853 (GRCm39) |
V96A |
probably damaging |
Het |
Rab11fip5 |
T |
C |
6: 85,318,834 (GRCm39) |
E685G |
probably benign |
Het |
Rab27a |
C |
T |
9: 72,992,278 (GRCm39) |
T102I |
probably damaging |
Het |
Reln |
A |
G |
5: 22,153,545 (GRCm39) |
L2253P |
probably damaging |
Het |
Rock1 |
C |
T |
18: 10,080,479 (GRCm39) |
A1022T |
probably benign |
Het |
Rspry1 |
T |
A |
8: 95,363,259 (GRCm39) |
N259K |
probably damaging |
Het |
Sdha |
A |
T |
13: 74,472,056 (GRCm39) |
Y604* |
probably null |
Het |
Slc12a6 |
A |
G |
2: 112,164,754 (GRCm39) |
N151S |
probably benign |
Het |
Slc26a5 |
T |
A |
5: 22,019,051 (GRCm39) |
D596V |
probably benign |
Het |
Snrpa |
A |
G |
7: 26,891,051 (GRCm39) |
V140A |
probably benign |
Het |
Spta1 |
T |
G |
1: 174,047,444 (GRCm39) |
V1696G |
probably damaging |
Het |
St13 |
A |
T |
15: 81,261,927 (GRCm39) |
D179E |
probably damaging |
Het |
Stpg4 |
T |
C |
17: 87,702,671 (GRCm39) |
D182G |
probably benign |
Het |
Tigar |
A |
T |
6: 127,068,157 (GRCm39) |
L87H |
probably damaging |
Het |
Tmem67 |
C |
A |
4: 12,079,962 (GRCm39) |
V110F |
possibly damaging |
Het |
Trav6n-5 |
T |
A |
14: 53,342,744 (GRCm39) |
L94* |
probably null |
Het |
Ttf1 |
A |
G |
2: 28,955,902 (GRCm39) |
H422R |
probably benign |
Het |
Ttn |
A |
G |
2: 76,619,926 (GRCm39) |
V15914A |
probably damaging |
Het |
Vmn2r13 |
C |
A |
5: 109,303,953 (GRCm39) |
C826F |
probably damaging |
Het |
Wwc1 |
C |
G |
11: 35,780,211 (GRCm39) |
G248A |
probably benign |
Het |
Zfp120 |
G |
A |
2: 149,959,615 (GRCm39) |
H258Y |
probably damaging |
Het |
Zfp142 |
A |
G |
1: 74,607,731 (GRCm39) |
Y1681H |
probably damaging |
Het |
Zkscan3 |
A |
G |
13: 21,579,045 (GRCm39) |
L150P |
possibly damaging |
Het |
Zscan4-ps1 |
G |
T |
7: 10,799,589 (GRCm39) |
F433L |
possibly 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 |
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 |
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'- CTGCAAGTGTATGGTGGACAC -3'
(R):5'- CGGGCTACAGAGTCTGTTATTAC -3'
Sequencing Primer
(F):5'- GTGGACACCTCTGCTCTGCTG -3'
(R):5'- GGCTACAGAGTCTGTTATTACCAGAG -3'
|
Posted On |
2022-03-25 |