Incidental Mutation 'R8978:Synm'
| ID |
683562 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Synm
|
| Ensembl Gene |
ENSMUSG00000030554 |
| Gene Name |
synemin, intermediate filament protein |
| Synonyms |
Synemin, 4930412K21Rik, Dmn |
| MMRRC Submission |
068811-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8978 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
67379909-67409490 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 67384672 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Leucine
at position 997
(V997L)
|
| 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: V997L
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000050987
Gene: ENSMUSG00000030554
AA Change: V997L
| 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: V997L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000073855
Gene: ENSMUSG00000030554
AA Change: V997L
| 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: V555L
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208231
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208764
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208815
|
| Meta Mutation Damage Score |
0.0647 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.8%
|
| Validation Efficiency |
99% (66/67) |
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg4 |
A |
G |
9: 44,192,395 (GRCm39) |
F224L |
probably benign |
Het |
| Adam39 |
A |
G |
8: 41,278,707 (GRCm39) |
D366G |
probably damaging |
Het |
| Adamts14 |
T |
A |
10: 61,038,795 (GRCm39) |
E902V |
probably damaging |
Het |
| Adamts6 |
T |
C |
13: 104,512,247 (GRCm39) |
C490R |
probably damaging |
Het |
| Btbd3 |
T |
C |
2: 138,126,055 (GRCm39) |
V413A |
possibly damaging |
Het |
| Card6 |
TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG |
TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG |
15: 5,128,173 (GRCm39) |
|
probably benign |
Het |
| Cdadc1 |
G |
T |
14: 59,813,197 (GRCm39) |
N403K |
probably damaging |
Het |
| Cdc27 |
C |
T |
11: 104,399,211 (GRCm39) |
V734I |
possibly damaging |
Het |
| Celf3 |
A |
G |
3: 94,392,667 (GRCm39) |
D122G |
probably benign |
Het |
| Chgb |
T |
C |
2: 132,634,498 (GRCm39) |
S147P |
probably benign |
Het |
| Col9a1 |
G |
A |
1: 24,278,396 (GRCm39) |
G808D |
probably damaging |
Het |
| Cpne7 |
A |
G |
8: 123,861,177 (GRCm39) |
|
probably null |
Het |
| Crhr1 |
T |
C |
11: 104,064,480 (GRCm39) |
F330S |
possibly damaging |
Het |
| Csmd1 |
A |
C |
8: 15,971,056 (GRCm39) |
N3086K |
probably benign |
Het |
| Ctnnb1 |
A |
G |
9: 120,786,650 (GRCm39) |
D624G |
probably damaging |
Het |
| Dcaf8 |
G |
A |
1: 172,022,124 (GRCm39) |
R554H |
probably benign |
Het |
| Dmbt1 |
T |
C |
7: 130,639,611 (GRCm39) |
Y50H |
possibly damaging |
Het |
| Dmxl1 |
T |
C |
18: 50,055,679 (GRCm39) |
L2573P |
probably benign |
Het |
| Ebf2 |
G |
A |
14: 67,661,548 (GRCm39) |
G559S |
probably benign |
Het |
| Fancd2 |
A |
G |
6: 113,562,507 (GRCm39) |
|
probably benign |
Het |
| Fkbp10 |
A |
T |
11: 100,313,936 (GRCm39) |
I427F |
probably benign |
Het |
| Gipc1 |
T |
C |
8: 84,389,046 (GRCm39) |
|
probably null |
Het |
| Gm1110 |
A |
T |
9: 26,807,095 (GRCm39) |
|
probably benign |
Het |
| Gsdmc3 |
A |
G |
15: 63,731,455 (GRCm39) |
L359P |
probably damaging |
Het |
| Hspg2 |
A |
G |
4: 137,291,341 (GRCm39) |
D3897G |
probably benign |
Het |
| Ift122 |
T |
A |
6: 115,902,769 (GRCm39) |
M1117K |
possibly damaging |
Het |
| Itgbl1 |
A |
T |
14: 124,209,617 (GRCm39) |
D456V |
probably damaging |
Het |
| Itprid2 |
T |
A |
2: 79,491,257 (GRCm39) |
L1014Q |
probably damaging |
Het |
| Kctd1 |
G |
T |
18: 15,119,491 (GRCm39) |
L675I |
|
Het |
| Kyat3 |
C |
T |
3: 142,443,596 (GRCm39) |
T403M |
probably benign |
Het |
| Ltbp2 |
T |
C |
12: 84,834,164 (GRCm39) |
T1442A |
probably benign |
Het |
| Mier2 |
A |
C |
10: 79,376,790 (GRCm39) |
S45R |
unknown |
Het |
| Mon2 |
T |
A |
10: 122,871,469 (GRCm39) |
K383* |
probably null |
Het |
| Mroh4 |
G |
T |
15: 74,499,473 (GRCm39) |
T136K |
probably benign |
Het |
| Mtif3 |
A |
T |
5: 146,895,846 (GRCm39) |
S80R |
probably benign |
Het |
| Myh2 |
A |
C |
11: 67,068,188 (GRCm39) |
E272A |
probably damaging |
Het |
| Myh2 |
A |
G |
11: 67,080,323 (GRCm39) |
Q1179R |
probably damaging |
Het |
| Nfatc3 |
G |
A |
8: 106,835,402 (GRCm39) |
C916Y |
probably benign |
Het |
| Or13a17 |
A |
T |
7: 140,271,642 (GRCm39) |
T275S |
probably benign |
Het |
| Or2w2 |
T |
A |
13: 21,758,279 (GRCm39) |
T116S |
probably benign |
Het |
| Or7g21 |
T |
A |
9: 19,032,582 (GRCm39) |
C107* |
probably null |
Het |
| Orc2 |
T |
C |
1: 58,511,499 (GRCm39) |
D370G |
possibly damaging |
Het |
| Pate7 |
A |
T |
9: 35,688,069 (GRCm39) |
|
probably benign |
Het |
| Pcdhga6 |
T |
A |
18: 37,840,716 (GRCm39) |
N145K |
probably benign |
Het |
| Pih1d2 |
A |
G |
9: 50,536,232 (GRCm39) |
M296V |
probably benign |
Het |
| Prickle4 |
A |
T |
17: 47,999,772 (GRCm39) |
|
probably benign |
Het |
| Rabl6 |
G |
A |
2: 25,477,541 (GRCm39) |
P303L |
probably damaging |
Het |
| Rara |
T |
G |
11: 98,862,595 (GRCm39) |
I332S |
probably damaging |
Het |
| Reln |
A |
G |
5: 22,090,512 (GRCm39) |
F3449L |
possibly damaging |
Het |
| Rhoq |
T |
C |
17: 87,271,767 (GRCm39) |
L61P |
|
Het |
| Rigi |
A |
G |
4: 40,239,650 (GRCm39) |
I16T |
probably damaging |
Het |
| Slc6a15 |
G |
A |
10: 103,230,953 (GRCm39) |
W226* |
probably null |
Het |
| Spef2 |
A |
T |
15: 9,725,263 (GRCm39) |
S165T |
possibly damaging |
Het |
| Stab2 |
T |
C |
10: 86,785,782 (GRCm39) |
N620S |
possibly damaging |
Het |
| Suds3 |
A |
G |
5: 117,232,973 (GRCm39) |
|
probably null |
Het |
| Sult1b1 |
A |
G |
5: 87,682,900 (GRCm39) |
I15T |
possibly damaging |
Het |
| Tgfbi |
C |
A |
13: 56,778,391 (GRCm39) |
D387E |
probably benign |
Het |
| Thrb |
T |
C |
14: 17,981,886 (GRCm38) |
C4R |
possibly damaging |
Het |
| Tk2 |
A |
G |
8: 104,957,809 (GRCm39) |
V179A |
possibly damaging |
Het |
| Trim25 |
T |
C |
11: 88,907,027 (GRCm39) |
V462A |
probably benign |
Het |
| Tub |
T |
C |
7: 108,629,393 (GRCm39) |
Y483H |
probably damaging |
Het |
| Vav1 |
A |
G |
17: 57,603,710 (GRCm39) |
T131A |
probably benign |
Het |
| Vav1 |
A |
G |
17: 57,631,650 (GRCm39) |
T781A |
probably benign |
Het |
| Zbtb34 |
A |
G |
2: 33,301,048 (GRCm39) |
S498P |
possibly damaging |
Het |
| Zfp568 |
T |
A |
7: 29,716,683 (GRCm39) |
H194Q |
probably benign |
Het |
| Zfp683 |
A |
T |
4: 133,781,239 (GRCm39) |
Q18L |
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 |
|
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 |
|
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'- AGCGCTTGAAGAGAATGCCAC -3'
(R):5'- ACCTCCATCAAGGGTGTCTTC -3'
Sequencing Primer
(F):5'- AGCAGGCACCTCCTCTC -3'
(R):5'- CATCAAGGGTGTCTTCTCCAGTGAG -3'
|
| Posted On |
2021-10-11 |
Incidental Mutation