Incidental Mutation 'R8880:Synm'
| ID |
676844 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Synm
|
| Ensembl Gene |
ENSMUSG00000030554 |
| Gene Name |
synemin, intermediate filament protein |
| Synonyms |
Synemin, 4930412K21Rik, Dmn |
| MMRRC Submission |
068748-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8880 (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 67386456 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 402
(R402H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000073855
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051389]
[ENSMUST00000074233]
[ENSMUST00000207102]
[ENSMUST00000208231]
[ENSMUST00000208815]
|
| AlphaFold |
Q70IV5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000051389
AA Change: R402H
PolyPhen 2
Score 0.545 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000050987
Gene: ENSMUSG00000030554
AA Change: R402H
| 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: R402H
PolyPhen 2
Score 0.843 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000073855
Gene: ENSMUSG00000030554
AA Change: R402H
| 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 |
possibly damaging
Transcript: ENSMUST00000208815
AA Change: R402H
PolyPhen 2
Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
100% (82/82) |
| 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 |
|---|
| 3425401B19Rik |
C |
T |
14: 32,382,837 (GRCm39) |
V1043I |
probably benign |
Het |
| 5031439G07Rik |
T |
A |
15: 84,839,867 (GRCm39) |
I176F |
possibly damaging |
Het |
| Adam6b |
T |
A |
12: 113,454,764 (GRCm39) |
M527K |
probably benign |
Het |
| Atp10b |
C |
T |
11: 43,106,811 (GRCm39) |
T615I |
probably benign |
Het |
| Atxn2 |
A |
G |
5: 121,948,973 (GRCm39) |
T1117A |
probably benign |
Het |
| AU021092 |
A |
T |
16: 5,032,585 (GRCm39) |
|
probably benign |
Het |
| Bcam |
C |
T |
7: 19,492,671 (GRCm39) |
V505M |
probably damaging |
Het |
| Bco2 |
A |
T |
9: 50,461,962 (GRCm39) |
L14Q |
probably damaging |
Het |
| Caps2 |
T |
G |
10: 112,030,824 (GRCm39) |
|
probably benign |
Het |
| Cblb |
T |
C |
16: 51,986,368 (GRCm39) |
V537A |
probably benign |
Het |
| Ccdc141 |
A |
T |
2: 76,845,556 (GRCm39) |
N1170K |
probably benign |
Het |
| Ccdc154 |
T |
G |
17: 25,389,129 (GRCm39) |
D442E |
probably benign |
Het |
| Col24a1 |
A |
G |
3: 145,019,798 (GRCm39) |
I60V |
probably null |
Het |
| Crb1 |
A |
T |
1: 139,164,886 (GRCm39) |
N1140K |
probably benign |
Het |
| Ddhd1 |
G |
A |
14: 45,846,430 (GRCm39) |
P621S |
probably benign |
Het |
| Ddx46 |
A |
T |
13: 55,814,033 (GRCm39) |
N663I |
probably benign |
Het |
| Dgki |
C |
T |
6: 37,011,652 (GRCm39) |
|
probably benign |
Het |
| Disp2 |
T |
C |
2: 118,621,239 (GRCm39) |
F657S |
probably damaging |
Het |
| Dnajc2 |
T |
C |
5: 21,973,670 (GRCm39) |
E262G |
probably damaging |
Het |
| Dvl2 |
T |
A |
11: 69,898,761 (GRCm39) |
L408Q |
possibly damaging |
Het |
| Egflam |
T |
C |
15: 7,267,249 (GRCm39) |
D712G |
probably damaging |
Het |
| Entpd7 |
A |
G |
19: 43,692,846 (GRCm39) |
|
probably benign |
Het |
| Epb41 |
A |
T |
4: 131,695,104 (GRCm39) |
W28R |
|
Het |
| Fabp9 |
C |
T |
3: 10,262,231 (GRCm39) |
|
probably benign |
Het |
| Fkbp15 |
T |
A |
4: 62,232,602 (GRCm39) |
M657L |
probably benign |
Het |
| Gfy |
A |
C |
7: 44,827,784 (GRCm39) |
L104R |
possibly damaging |
Het |
| Gm4884 |
A |
T |
7: 40,693,911 (GRCm39) |
I627F |
probably damaging |
Het |
| Gm9195 |
A |
T |
14: 72,691,320 (GRCm39) |
S1643T |
unknown |
Het |
| Gpsm2 |
C |
T |
3: 108,610,335 (GRCm39) |
A42T |
possibly damaging |
Het |
| Gvin2 |
T |
C |
7: 105,551,120 (GRCm39) |
K644R |
probably benign |
Het |
| Gys2 |
T |
C |
6: 142,402,113 (GRCm39) |
Y242C |
probably damaging |
Het |
| Hbs1l |
A |
G |
10: 21,185,868 (GRCm39) |
N430S |
probably damaging |
Het |
| Idh3b |
A |
T |
2: 130,126,004 (GRCm39) |
|
probably benign |
Het |
| Igdcc3 |
C |
T |
9: 65,088,550 (GRCm39) |
A384V |
probably benign |
Het |
| Ighv3-4 |
C |
T |
12: 114,217,535 (GRCm39) |
D19N |
possibly damaging |
Het |
| Igkv19-93 |
G |
T |
6: 68,713,494 (GRCm39) |
A45E |
probably damaging |
Het |
| Il10ra |
G |
A |
9: 45,175,631 (GRCm39) |
T230M |
probably damaging |
Het |
| Kalrn |
A |
G |
16: 34,038,305 (GRCm39) |
V1009A |
probably damaging |
Het |
| Kcnma1 |
G |
T |
14: 23,417,718 (GRCm39) |
A837D |
probably damaging |
Het |
| Kif7 |
T |
A |
7: 79,348,650 (GRCm39) |
R1231S |
probably benign |
Het |
| Klhdc1 |
A |
G |
12: 69,298,817 (GRCm39) |
D134G |
possibly damaging |
Het |
| Klk14 |
T |
C |
7: 43,343,459 (GRCm39) |
V97A |
probably damaging |
Het |
| Lamb3 |
G |
A |
1: 193,003,363 (GRCm39) |
V101M |
possibly damaging |
Het |
| Lrrc7 |
C |
T |
3: 157,867,381 (GRCm39) |
E787K |
probably damaging |
Het |
| Mep1a |
A |
G |
17: 43,808,808 (GRCm39) |
I94T |
possibly damaging |
Het |
| Mtrex |
T |
A |
13: 113,051,034 (GRCm39) |
K180N |
probably benign |
Het |
| Ncr1 |
C |
T |
7: 4,341,336 (GRCm39) |
S109L |
probably benign |
Het |
| Nell2 |
A |
T |
15: 95,129,329 (GRCm39) |
M678K |
probably damaging |
Het |
| Or12j5 |
C |
A |
7: 140,084,172 (GRCm39) |
A67S |
probably benign |
Het |
| Or14c42-ps1 |
G |
A |
7: 86,211,549 (GRCm39) |
C203Y |
unknown |
Het |
| Or2m13 |
A |
T |
16: 19,226,396 (GRCm39) |
Y123* |
probably null |
Het |
| Or8g19 |
T |
A |
9: 39,055,899 (GRCm39) |
F168I |
probably damaging |
Het |
| Pnpla1 |
A |
C |
17: 29,098,438 (GRCm39) |
Y248S |
probably damaging |
Het |
| Pramel27 |
T |
C |
4: 143,573,140 (GRCm39) |
|
probably null |
Het |
| Prdm10 |
T |
C |
9: 31,264,742 (GRCm39) |
F726L |
probably damaging |
Het |
| Prdm16 |
T |
C |
4: 154,613,370 (GRCm39) |
N19S |
probably damaging |
Het |
| Prss44 |
A |
G |
9: 110,643,263 (GRCm39) |
R53G |
probably benign |
Het |
| Rasgrp1 |
C |
T |
2: 117,115,425 (GRCm39) |
R721Q |
probably benign |
Het |
| Rassf1 |
A |
T |
9: 107,434,740 (GRCm39) |
N149I |
probably damaging |
Het |
| Rbp3 |
A |
C |
14: 33,678,796 (GRCm39) |
T915P |
probably benign |
Het |
| Reg3g |
A |
T |
6: 78,444,788 (GRCm39) |
D63E |
probably benign |
Het |
| Relch |
T |
C |
1: 105,592,220 (GRCm39) |
Y130H |
probably damaging |
Het |
| Rgs3 |
C |
A |
4: 62,543,373 (GRCm39) |
T236K |
probably damaging |
Het |
| Rin2 |
T |
C |
2: 145,690,772 (GRCm39) |
F147L |
probably damaging |
Het |
| Slc17a1 |
T |
C |
13: 24,062,732 (GRCm39) |
I266T |
probably benign |
Het |
| Slc34a3 |
A |
T |
2: 25,119,267 (GRCm39) |
N534K |
probably benign |
Het |
| Smc2 |
A |
T |
4: 52,462,856 (GRCm39) |
E615D |
probably benign |
Het |
| Snx16 |
A |
C |
3: 10,484,193 (GRCm39) |
D343E |
probably benign |
Het |
| St18 |
T |
A |
1: 6,865,619 (GRCm39) |
Y32* |
probably null |
Het |
| Svep1 |
C |
T |
4: 58,064,204 (GRCm39) |
V3260I |
possibly damaging |
Het |
| Tacc2 |
A |
T |
7: 130,318,564 (GRCm39) |
E67V |
possibly damaging |
Het |
| Tarbp1 |
G |
T |
8: 127,198,044 (GRCm39) |
N302K |
probably damaging |
Het |
| Tenm2 |
A |
G |
11: 35,942,788 (GRCm39) |
S1294P |
probably damaging |
Het |
| Ttk |
T |
C |
9: 83,751,304 (GRCm39) |
S794P |
probably damaging |
Het |
| Ulk1 |
G |
A |
5: 110,934,288 (GRCm39) |
A999V |
probably damaging |
Het |
| Upf2 |
A |
G |
2: 6,030,983 (GRCm39) |
I808V |
unknown |
Het |
| Ush2a |
A |
G |
1: 188,460,733 (GRCm39) |
T2665A |
probably benign |
Het |
| Usp8 |
A |
G |
2: 126,590,229 (GRCm39) |
K672E |
probably damaging |
Het |
| Vmn2r105 |
T |
A |
17: 20,429,229 (GRCm39) |
I616F |
probably damaging |
Het |
| Vps33a |
T |
C |
5: 123,707,506 (GRCm39) |
M154V |
probably damaging |
Het |
| Wdfy4 |
A |
C |
14: 32,795,492 (GRCm39) |
Y2083* |
probably null |
Het |
| Zc3hav1 |
A |
G |
6: 38,288,212 (GRCm39) |
F875L |
probably benign |
Het |
| Zfp979 |
T |
C |
4: 147,697,836 (GRCm39) |
N291S |
probably benign |
Het |
| Zp2 |
T |
A |
7: 119,742,835 (GRCm39) |
Y99F |
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 |
|
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 |
|
| Posted On |
2021-07-15 |
Incidental Mutation