Incidental Mutation 'R7320:Synm'
ID |
568136 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Synm
|
Ensembl Gene |
ENSMUSG00000030554 |
Gene Name |
synemin, intermediate filament protein |
Synonyms |
Synemin, 4930412K21Rik, Dmn |
MMRRC Submission |
045370-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7320 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
67379909-67409490 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 67385128 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Lysine
at position 845
(E845K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000073855
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051389]
[ENSMUST00000074233]
[ENSMUST00000207102]
[ENSMUST00000208231]
[ENSMUST00000208815]
|
AlphaFold |
Q70IV5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000051389
AA Change: E845K
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000050987 Gene: ENSMUSG00000030554 AA Change: E845K
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: E845K
PolyPhen 2
Score 0.891 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000073855 Gene: ENSMUSG00000030554 AA Change: E845K
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: E403K
PolyPhen 2
Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)
|
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: 98.8%
|
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: 84 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc3 |
A |
G |
11: 94,258,471 (GRCm39) |
I458T |
probably benign |
Het |
Adam29 |
A |
G |
8: 56,325,749 (GRCm39) |
I235T |
possibly damaging |
Het |
Afap1 |
G |
A |
5: 36,105,567 (GRCm39) |
V174I |
probably damaging |
Het |
Ak8 |
A |
T |
2: 28,703,004 (GRCm39) |
D456V |
probably damaging |
Het |
Alb |
T |
C |
5: 90,612,846 (GRCm39) |
|
probably null |
Het |
Alox12 |
C |
T |
11: 70,145,298 (GRCm39) |
A92T |
probably benign |
Het |
Arhgap23 |
T |
C |
11: 97,342,371 (GRCm39) |
S218P |
probably benign |
Het |
Blm |
G |
A |
7: 80,105,102 (GRCm39) |
Q1389* |
probably null |
Het |
C1ql4 |
A |
T |
15: 98,985,605 (GRCm39) |
V2E |
unknown |
Het |
Casp12 |
A |
G |
9: 5,348,897 (GRCm39) |
|
probably null |
Het |
Ccdc73 |
A |
T |
2: 104,829,521 (GRCm39) |
I1065F |
possibly damaging |
Het |
Ccdc83 |
C |
T |
7: 89,873,242 (GRCm39) |
G371D |
probably damaging |
Het |
Cfap65 |
A |
G |
1: 74,965,763 (GRCm39) |
S416P |
probably damaging |
Het |
Cftr |
T |
A |
6: 18,319,012 (GRCm39) |
C1351S |
probably damaging |
Het |
Clcn4 |
A |
T |
7: 7,294,827 (GRCm39) |
H311Q |
probably benign |
Het |
Cldn13 |
T |
G |
5: 134,943,874 (GRCm39) |
I104L |
probably benign |
Het |
Cul9 |
A |
G |
17: 46,821,835 (GRCm39) |
V1880A |
possibly damaging |
Het |
Ddx17 |
A |
T |
15: 79,416,105 (GRCm39) |
D407E |
probably damaging |
Het |
Ddx28 |
G |
A |
8: 106,737,957 (GRCm39) |
P34S |
probably damaging |
Het |
Dnah5 |
A |
T |
15: 28,270,616 (GRCm39) |
N973Y |
probably null |
Het |
Dnai4 |
A |
T |
4: 102,907,384 (GRCm39) |
I634N |
possibly damaging |
Het |
Dock10 |
A |
G |
1: 80,527,421 (GRCm39) |
|
probably null |
Het |
Dock3 |
T |
C |
9: 106,772,723 (GRCm39) |
D510G |
probably benign |
Het |
Dst |
T |
A |
1: 34,230,175 (GRCm39) |
D2589E |
probably benign |
Het |
E2f7 |
T |
C |
10: 110,599,991 (GRCm39) |
Y249H |
not run |
Het |
Eef2kmt |
T |
C |
16: 5,068,373 (GRCm39) |
Y69C |
possibly damaging |
Het |
Elapor1 |
T |
A |
3: 108,371,619 (GRCm39) |
K650* |
probably null |
Het |
Erlin1 |
T |
C |
19: 44,047,504 (GRCm39) |
Y139C |
probably damaging |
Het |
Exog |
G |
T |
9: 119,291,544 (GRCm39) |
V274L |
possibly damaging |
Het |
Fam83e |
G |
A |
7: 45,371,896 (GRCm39) |
V98M |
probably benign |
Het |
Fras1 |
C |
T |
5: 96,857,745 (GRCm39) |
T2013I |
probably benign |
Het |
Gart |
G |
T |
16: 91,418,569 (GRCm39) |
A970E |
probably benign |
Het |
Gga2 |
T |
A |
7: 121,601,326 (GRCm39) |
H259L |
probably benign |
Het |
Glis3 |
C |
A |
19: 28,508,998 (GRCm39) |
V329F |
probably damaging |
Het |
Gm6356 |
T |
A |
14: 6,972,923 (GRCm38) |
N53I |
probably damaging |
Het |
Golgb1 |
C |
A |
16: 36,736,313 (GRCm39) |
C1894* |
probably null |
Het |
Ifi203 |
T |
C |
1: 173,756,733 (GRCm39) |
N350S |
unknown |
Het |
Isy1 |
T |
A |
6: 87,810,688 (GRCm39) |
R55S |
unknown |
Het |
Itsn1 |
A |
T |
16: 91,636,587 (GRCm39) |
D678V |
unknown |
Het |
Lhcgr |
T |
A |
17: 89,049,506 (GRCm39) |
R673S |
probably benign |
Het |
Lnx2 |
C |
A |
5: 146,956,943 (GRCm39) |
R601L |
possibly damaging |
Het |
Map4 |
A |
G |
9: 109,910,585 (GRCm39) |
T1093A |
probably benign |
Het |
Minar1 |
A |
G |
9: 89,483,679 (GRCm39) |
S573P |
probably benign |
Het |
Mink1 |
A |
G |
11: 70,489,899 (GRCm39) |
K92E |
probably benign |
Het |
Moxd1 |
A |
G |
10: 24,177,363 (GRCm39) |
I560V |
probably benign |
Het |
Mrc2 |
C |
A |
11: 105,220,061 (GRCm39) |
D327E |
possibly damaging |
Het |
Notch2 |
A |
G |
3: 98,038,643 (GRCm39) |
E1262G |
possibly damaging |
Het |
Or2g1 |
T |
A |
17: 38,107,248 (GRCm39) |
N304K |
probably benign |
Het |
Or4k48 |
A |
G |
2: 111,476,297 (GRCm39) |
L15S |
probably benign |
Het |
Or52d3 |
C |
A |
7: 104,229,645 (GRCm39) |
S264* |
probably null |
Het |
Or5an1 |
G |
A |
19: 12,261,180 (GRCm39) |
G256D |
possibly damaging |
Het |
Or5b120 |
T |
A |
19: 13,480,544 (GRCm39) |
M279K |
possibly damaging |
Het |
Or5j3 |
GTACTTTTT |
GT |
2: 86,128,338 (GRCm39) |
|
probably null |
Het |
Or5m13 |
A |
T |
2: 85,748,718 (GRCm39) |
I150F |
probably benign |
Het |
Or6c5b |
A |
T |
10: 129,245,654 (GRCm39) |
T140S |
possibly damaging |
Het |
Pcbp2 |
T |
A |
15: 102,381,782 (GRCm39) |
V5E |
probably damaging |
Het |
Pcp4l1 |
G |
A |
1: 171,002,034 (GRCm39) |
A42V |
possibly damaging |
Het |
Pgghg |
A |
T |
7: 140,522,953 (GRCm39) |
Y104F |
probably benign |
Het |
Plscr2 |
T |
C |
9: 92,173,193 (GRCm39) |
|
probably null |
Het |
Ppfibp1 |
C |
T |
6: 146,879,551 (GRCm39) |
A25V |
probably damaging |
Het |
Ptgfr |
C |
T |
3: 151,541,034 (GRCm39) |
G158D |
probably benign |
Het |
Ptgs2 |
T |
C |
1: 149,978,446 (GRCm39) |
F186S |
probably damaging |
Het |
Ptpn14 |
A |
G |
1: 189,564,956 (GRCm39) |
E181G |
probably benign |
Het |
Rpgrip1 |
A |
G |
14: 52,368,673 (GRCm39) |
K291E |
possibly damaging |
Het |
Rtn4rl1 |
T |
C |
11: 75,085,122 (GRCm39) |
|
probably null |
Het |
Sema3b |
T |
A |
9: 107,478,141 (GRCm39) |
M415L |
probably benign |
Het |
Sh3bp4 |
A |
G |
1: 89,073,216 (GRCm39) |
E688G |
probably damaging |
Het |
Slco6c1 |
G |
A |
1: 97,055,887 (GRCm39) |
R5C |
possibly damaging |
Het |
Slmap |
A |
G |
14: 26,181,227 (GRCm39) |
F369L |
possibly damaging |
Het |
Sphk2 |
T |
C |
7: 45,361,894 (GRCm39) |
N181S |
possibly damaging |
Het |
Sqor |
A |
G |
2: 122,641,730 (GRCm39) |
T235A |
probably benign |
Het |
St13 |
A |
G |
15: 81,273,854 (GRCm39) |
L80P |
probably damaging |
Het |
St3gal6 |
A |
G |
16: 58,314,074 (GRCm39) |
Y20H |
probably benign |
Het |
Sun1 |
T |
G |
5: 139,234,239 (GRCm39) |
Y899D |
probably damaging |
Het |
Tg |
A |
T |
15: 66,566,633 (GRCm39) |
D1227V |
possibly damaging |
Het |
Thbs1 |
A |
G |
2: 117,945,438 (GRCm39) |
N306D |
possibly damaging |
Het |
Tmcc3 |
A |
T |
10: 94,414,357 (GRCm39) |
N51Y |
possibly damaging |
Het |
Usp4 |
A |
G |
9: 108,265,505 (GRCm39) |
D856G |
probably benign |
Het |
Vil1 |
G |
A |
1: 74,457,603 (GRCm39) |
A79T |
probably damaging |
Het |
Vmn1r119 |
T |
A |
7: 20,746,271 (GRCm39) |
H37L |
probably damaging |
Het |
Vmn2r110 |
A |
T |
17: 20,816,316 (GRCm39) |
M69K |
probably benign |
Het |
Ywhaq |
A |
G |
12: 21,444,982 (GRCm39) |
L221P |
probably damaging |
Het |
Zfp142 |
G |
A |
1: 74,609,167 (GRCm39) |
Q1543* |
probably null |
Het |
Zfp384 |
T |
A |
6: 125,001,793 (GRCm39) |
M146K |
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 |
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'- TTCAAGTGAGCAGAACCAATAGC -3'
(R):5'- AGAAGTCGACGACGTGTCTC -3'
Sequencing Primer
(F):5'- TAGCACCACCCAGGGAAAGTG -3'
(R):5'- CCCAAGGGCTTTGTGGAG -3'
|
Posted On |
2019-06-26 |