Incidental Mutation 'R7208:Synm'
ID |
560870 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Synm
|
Ensembl Gene |
ENSMUSG00000030554 |
Gene Name |
synemin, intermediate filament protein |
Synonyms |
Synemin, 4930412K21Rik, Dmn |
MMRRC Submission |
045285-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7208 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
67379909-67409490 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 67384663 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Valine
at position 558
(M558V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000146510
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051389]
[ENSMUST00000074233]
[ENSMUST00000207102]
[ENSMUST00000208231]
[ENSMUST00000208815]
|
AlphaFold |
Q70IV5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000051389
AA Change: M1000V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000050987 Gene: ENSMUSG00000030554 AA Change: M1000V
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: M1000V
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000073855 Gene: ENSMUSG00000030554 AA Change: M1000V
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: M558V
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000208231
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000208764
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000208815
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.4%
|
Validation Efficiency |
99% (76/77) |
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: 77 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aass |
T |
C |
6: 23,074,629 (GRCm39) |
K854E |
probably damaging |
Het |
Abcd2 |
G |
T |
15: 91,074,885 (GRCm39) |
Y309* |
probably null |
Het |
Ache |
G |
A |
5: 137,289,751 (GRCm39) |
G360D |
probably damaging |
Het |
Acot12 |
T |
C |
13: 91,929,361 (GRCm39) |
L396P |
probably benign |
Het |
Acox2 |
T |
G |
14: 8,241,303 (GRCm38) |
D603A |
probably benign |
Het |
Adam3 |
C |
A |
8: 25,201,417 (GRCm39) |
K245N |
probably damaging |
Het |
Ankhd1 |
T |
C |
18: 36,758,081 (GRCm39) |
I925T |
probably benign |
Het |
Arhgap27 |
C |
T |
11: 103,251,585 (GRCm39) |
V48M |
probably damaging |
Het |
Atm |
A |
T |
9: 53,423,308 (GRCm39) |
|
probably null |
Het |
B4galt4 |
T |
A |
16: 38,574,302 (GRCm39) |
F92Y |
probably damaging |
Het |
Brwd1 |
C |
T |
16: 95,837,159 (GRCm39) |
R891Q |
probably damaging |
Het |
Calcr |
T |
C |
6: 3,687,612 (GRCm39) |
Q462R |
probably benign |
Het |
Ccdc112 |
T |
C |
18: 46,420,698 (GRCm39) |
R351G |
probably damaging |
Het |
Ccdc80 |
T |
G |
16: 44,917,073 (GRCm39) |
S610A |
probably benign |
Het |
Cdh20 |
C |
A |
1: 104,881,796 (GRCm39) |
N420K |
possibly damaging |
Het |
Cntn3 |
G |
A |
6: 102,255,383 (GRCm39) |
R172* |
probably null |
Het |
Ctnnd1 |
G |
T |
2: 84,452,390 (GRCm39) |
Q78K |
possibly damaging |
Het |
D16Ertd472e |
A |
T |
16: 78,372,814 (GRCm39) |
L41H |
probably damaging |
Het |
Dclk2 |
A |
T |
3: 86,706,909 (GRCm39) |
|
probably null |
Het |
Dmwd |
C |
T |
7: 18,814,234 (GRCm39) |
H295Y |
probably benign |
Het |
Dnai2 |
T |
C |
11: 114,647,988 (GRCm39) |
V588A |
unknown |
Het |
Dnai4 |
T |
G |
4: 102,923,549 (GRCm39) |
I427L |
probably benign |
Het |
Dtx4 |
C |
T |
19: 12,459,437 (GRCm39) |
|
probably null |
Het |
Dync2h1 |
C |
A |
9: 7,141,059 (GRCm39) |
D1323Y |
probably damaging |
Het |
Fcgbp |
T |
A |
7: 27,803,446 (GRCm39) |
H1683Q |
probably benign |
Het |
Fndc3c1 |
G |
C |
X: 105,478,679 (GRCm39) |
L724V |
possibly damaging |
Het |
Gm9195 |
A |
G |
14: 72,689,192 (GRCm39) |
S1876P |
possibly damaging |
Het |
Grhl2 |
A |
C |
15: 37,335,980 (GRCm39) |
K431T |
probably damaging |
Het |
Grm7 |
T |
G |
6: 111,335,530 (GRCm39) |
I647S |
possibly damaging |
Het |
Gtf2ird1 |
T |
C |
5: 134,439,948 (GRCm39) |
N94S |
probably benign |
Het |
Gvin2 |
A |
C |
7: 105,551,386 (GRCm39) |
S555R |
possibly damaging |
Het |
Hmgcs1 |
G |
T |
13: 120,162,620 (GRCm39) |
G195W |
probably damaging |
Het |
Hrc |
A |
T |
7: 44,985,989 (GRCm39) |
Y380F |
possibly damaging |
Het |
Kcnu1 |
C |
T |
8: 26,409,665 (GRCm39) |
Q863* |
probably null |
Het |
Lemd2 |
G |
A |
17: 27,415,165 (GRCm39) |
P300L |
probably damaging |
Het |
Lnpep |
A |
T |
17: 17,773,172 (GRCm39) |
Y665* |
probably null |
Het |
Lrfn1 |
A |
G |
7: 28,166,564 (GRCm39) |
T653A |
probably benign |
Het |
Ly6g6c |
A |
G |
17: 35,286,387 (GRCm39) |
T8A |
unknown |
Het |
Mcm5 |
T |
C |
8: 75,848,344 (GRCm39) |
|
probably null |
Het |
Med28 |
A |
T |
5: 45,680,794 (GRCm39) |
D86V |
probably damaging |
Het |
Mup11 |
A |
G |
4: 60,615,725 (GRCm39) |
S171P |
possibly damaging |
Het |
Nckap1 |
A |
G |
2: 80,370,542 (GRCm39) |
F383L |
probably benign |
Het |
Nid1 |
G |
C |
13: 13,642,970 (GRCm39) |
G303R |
probably benign |
Het |
Nkain3 |
A |
G |
4: 20,282,892 (GRCm39) |
V147A |
probably benign |
Het |
Or12k8 |
A |
G |
2: 36,975,670 (GRCm39) |
V30A |
probably benign |
Het |
Pde9a |
G |
A |
17: 31,639,258 (GRCm39) |
V63I |
possibly damaging |
Het |
Pdlim2 |
T |
A |
14: 70,411,826 (GRCm39) |
I69F |
probably damaging |
Het |
Peg10 |
CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG |
CCACATCAGGATCCACATCAGGATGCACATCAG |
6: 4,756,398 (GRCm39) |
|
probably benign |
Het |
Phf20l1 |
T |
C |
15: 66,476,638 (GRCm39) |
I245T |
probably benign |
Het |
Prmt8 |
C |
T |
6: 127,666,792 (GRCm39) |
R394H |
possibly damaging |
Het |
Prorp |
A |
G |
12: 55,355,430 (GRCm39) |
|
probably null |
Het |
Prpf4b |
T |
A |
13: 35,067,994 (GRCm39) |
D274E |
unknown |
Het |
Psmd6 |
A |
T |
14: 14,112,225 (GRCm38) |
|
probably null |
Het |
Rgs16 |
T |
C |
1: 153,617,416 (GRCm39) |
L69P |
probably damaging |
Het |
Robo3 |
A |
T |
9: 37,336,020 (GRCm39) |
I482N |
probably damaging |
Het |
Scara3 |
C |
T |
14: 66,168,715 (GRCm39) |
V301I |
possibly damaging |
Het |
Serpina1b |
T |
A |
12: 103,694,553 (GRCm39) |
H397L |
probably benign |
Het |
Skint11 |
T |
A |
4: 114,088,944 (GRCm39) |
L246Q |
probably damaging |
Het |
Skint5 |
T |
A |
4: 113,396,536 (GRCm39) |
R1212S |
unknown |
Het |
Slc11a2 |
T |
C |
15: 100,300,213 (GRCm39) |
D348G |
probably benign |
Het |
Slc15a2 |
T |
C |
16: 36,576,643 (GRCm39) |
K495E |
probably benign |
Het |
Son |
T |
G |
16: 91,458,990 (GRCm39) |
D2072E |
unknown |
Het |
Stau1 |
A |
G |
2: 166,805,494 (GRCm39) |
V34A |
probably damaging |
Het |
Stk3 |
G |
T |
15: 35,073,262 (GRCm39) |
L153I |
possibly damaging |
Het |
Swi5 |
A |
T |
2: 32,177,922 (GRCm39) |
V13E |
probably benign |
Het |
Syne2 |
A |
T |
12: 76,078,172 (GRCm39) |
|
probably null |
Het |
Tep1 |
T |
A |
14: 51,062,013 (GRCm39) |
|
probably null |
Het |
Tmc6 |
A |
G |
11: 117,667,151 (GRCm39) |
V149A |
probably benign |
Het |
Tmem214 |
T |
A |
5: 31,028,065 (GRCm39) |
V95E |
possibly damaging |
Het |
Tnnt2 |
T |
A |
1: 135,778,114 (GRCm39) |
|
probably null |
Het |
Txlna |
A |
G |
4: 129,525,071 (GRCm39) |
|
probably null |
Het |
Vmn2r26 |
T |
C |
6: 124,038,948 (GRCm39) |
I841T |
probably damaging |
Het |
Wasf2 |
G |
A |
4: 132,923,045 (GRCm39) |
V452I |
probably damaging |
Het |
Wdr62 |
C |
T |
7: 29,951,761 (GRCm39) |
D673N |
probably damaging |
Het |
Wdr95 |
C |
T |
5: 149,518,836 (GRCm39) |
T559I |
probably benign |
Het |
Zbtb40 |
A |
T |
4: 136,726,937 (GRCm39) |
|
probably null |
Het |
Zfat |
T |
C |
15: 68,051,856 (GRCm39) |
E646G |
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 |
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'- CGCTTGAAGAGAATGCCAC -3'
(R):5'- ACACCTCCATCAAGGGTGTC -3'
Sequencing Primer
(F):5'- AGCAGGCACCTCCTCTC -3'
(R):5'- CATCAAGGGTGTCTTCTCCAGTGAG -3'
|
Posted On |
2019-06-26 |