Incidental Mutation 'R6646:Synm'
ID |
527974 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Synm
|
Ensembl Gene |
ENSMUSG00000030554 |
Gene Name |
synemin, intermediate filament protein |
Synonyms |
Synemin, 4930412K21Rik, Dmn |
MMRRC Submission |
044767-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6646 (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 T
at 67384875 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Lysine
at position 487
(I487K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000146510
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051389]
[ENSMUST00000074233]
[ENSMUST00000207102]
[ENSMUST00000208231]
[ENSMUST00000208815]
|
AlphaFold |
Q70IV5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000051389
AA Change: I929K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000050987 Gene: ENSMUSG00000030554 AA Change: I929K
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: I929K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000073855 Gene: ENSMUSG00000030554 AA Change: I929K
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 damaging
Transcript: ENSMUST00000207102
AA Change: I487K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000208231
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000208764
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000208815
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.4%
|
Validation Efficiency |
100% (41/41) |
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: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ada |
G |
T |
2: 163,577,343 (GRCm39) |
N48K |
probably benign |
Het |
Aldh1a7 |
C |
T |
19: 20,677,275 (GRCm39) |
A449T |
possibly damaging |
Het |
Arhgef28 |
A |
G |
13: 98,076,002 (GRCm39) |
V1344A |
probably benign |
Het |
Carmil3 |
A |
T |
14: 55,745,387 (GRCm39) |
E1371D |
probably damaging |
Het |
Crebbp |
C |
T |
16: 3,937,670 (GRCm39) |
A698T |
possibly damaging |
Het |
Dedd2 |
T |
C |
7: 24,903,038 (GRCm39) |
D307G |
probably damaging |
Het |
Dennd6b |
G |
T |
15: 89,070,387 (GRCm39) |
F427L |
probably damaging |
Het |
Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Homo |
Doc2a |
G |
A |
7: 126,450,791 (GRCm39) |
|
probably null |
Het |
Dst |
A |
G |
1: 34,307,888 (GRCm39) |
T6503A |
possibly damaging |
Het |
Ehmt1 |
A |
T |
2: 24,696,322 (GRCm39) |
I922K |
probably damaging |
Het |
Gbp9 |
A |
G |
5: 105,230,769 (GRCm39) |
I385T |
probably benign |
Het |
Gipc2 |
A |
T |
3: 151,799,838 (GRCm39) |
D297E |
possibly damaging |
Het |
Krt6b |
T |
A |
15: 101,585,649 (GRCm39) |
Q428L |
probably damaging |
Het |
Loxl4 |
T |
C |
19: 42,587,220 (GRCm39) |
D625G |
probably damaging |
Het |
Lrrn2 |
C |
T |
1: 132,866,794 (GRCm39) |
P620S |
probably benign |
Het |
Msh6 |
T |
C |
17: 88,293,870 (GRCm39) |
V875A |
possibly damaging |
Het |
Nebl |
T |
C |
2: 17,381,496 (GRCm39) |
T727A |
probably damaging |
Het |
Obscn |
T |
C |
11: 58,973,544 (GRCm39) |
D1929G |
possibly damaging |
Het |
Pard3b |
T |
C |
1: 62,200,280 (GRCm39) |
V273A |
probably benign |
Het |
Pcdhb7 |
T |
A |
18: 37,477,027 (GRCm39) |
V721E |
possibly damaging |
Het |
Plaa |
A |
T |
4: 94,478,215 (GRCm39) |
H82Q |
probably benign |
Het |
Plcd1 |
T |
A |
9: 118,904,100 (GRCm39) |
Y278F |
probably damaging |
Het |
Plxnb1 |
C |
A |
9: 108,937,895 (GRCm39) |
H1214N |
probably benign |
Het |
Ptprg |
C |
A |
14: 11,962,714 (GRCm38) |
P171T |
probably damaging |
Het |
Rela |
T |
G |
19: 5,697,132 (GRCm39) |
D446E |
probably damaging |
Het |
Rpap1 |
T |
C |
2: 119,610,612 (GRCm39) |
I156V |
probably benign |
Het |
Rpl15 |
T |
C |
14: 18,270,040 (GRCm38) |
Y59C |
probably damaging |
Het |
Scx |
C |
A |
15: 76,342,121 (GRCm39) |
T107N |
probably damaging |
Het |
Skint5 |
T |
A |
4: 113,797,974 (GRCm39) |
K203I |
possibly damaging |
Het |
Slc16a6 |
C |
T |
11: 109,343,988 (GRCm39) |
M518I |
probably benign |
Het |
Sorbs1 |
C |
T |
19: 40,313,993 (GRCm39) |
G940R |
probably damaging |
Het |
Spata31h1 |
T |
A |
10: 82,132,664 (GRCm39) |
E115D |
unknown |
Het |
Tcerg1l |
A |
T |
7: 137,996,912 (GRCm39) |
|
probably null |
Het |
Vmn2r99 |
T |
G |
17: 19,600,293 (GRCm39) |
L439R |
probably damaging |
Het |
Wdr75 |
T |
A |
1: 45,838,247 (GRCm39) |
L52Q |
probably damaging |
Het |
Zswim2 |
T |
A |
2: 83,746,128 (GRCm39) |
R437* |
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 |
R6612:Synm
|
UTSW |
7 |
67,383,264 (GRCm39) |
missense |
probably damaging |
0.99 |
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'- AGCGCTCTGGACTTTCTTTACG -3'
(R):5'- GTCTACCATCCGGTACTCATGG -3'
Sequencing Primer
(F):5'- GGACTTTCTTTACGTCCACAGAAACG -3'
(R):5'- ATCCGGTACTCATGGCAAGACG -3'
|
Posted On |
2018-07-24 |