Incidental Mutation 'R4383:Des'
| ID |
325398 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Des
|
| Ensembl Gene |
ENSMUSG00000026208 |
| Gene Name |
desmin |
| Synonyms |
|
| MMRRC Submission |
041123-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.642)
|
| Stock # |
R4383 (G1)
|
| Quality Score |
169 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
75336973-75345223 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 75337413 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 118
(F118L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027409
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027409]
|
| AlphaFold |
P31001 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000027409
AA Change: F118L
PolyPhen 2
Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000027409
Gene: ENSMUSG00000026208
AA Change: F118L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Filament_head
|
9 |
105 |
1.3e-25 |
PFAM |
|
Filament
|
106 |
414 |
7.41e-148 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125948
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144894
|
| Meta Mutation Damage Score |
0.2193 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.5%
|
| Validation Efficiency |
89% (32/36) |
| MGI Phenotype |
FUNCTION: This gene encodes a muscle-specific class III intermediate filament. Homopolymers of this protein form a stable intracytoplasmic filamentous network connecting myofibrils to each other and to the plasma membrane and are essential for maintaining the strength and integrity of skeletal, cardiac and smooth muscle fibers. Mutations in this gene affect assembly of intermediate filaments. Mice lacking this gene are able to develop and reproduce but exhibit abnormal muscle fibers. Mutations in the human gene are associated with myofibrillar myopathy, dilated cardiomyopathy, neurogenic scapuloperoneal syndrome and autosomal recessive limb-girdle muscular dystrophy, type 2R. [provided by RefSeq, Jan 2014]
PHENOTYPE: Homozygotes for targeted null mutations exhibit histologically detectable defects of cardiac, skeletal, and smooth muscle. Defects in the heart are most severe, and lead to calcification, progressive degeneration, and necrosis of the myocardium. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam23 |
T |
C |
1: 63,605,787 (GRCm39) |
Y624H |
probably damaging |
Het |
| Arih2 |
T |
G |
9: 108,521,476 (GRCm39) |
M1L |
probably benign |
Het |
| Asic3 |
A |
G |
5: 24,618,932 (GRCm39) |
T75A |
probably damaging |
Het |
| Baat |
C |
T |
4: 49,499,731 (GRCm39) |
A192T |
probably damaging |
Het |
| Calr3 |
T |
A |
8: 73,182,008 (GRCm39) |
D120V |
probably damaging |
Het |
| Clca3a2 |
T |
C |
3: 144,512,081 (GRCm39) |
I552V |
probably benign |
Het |
| Cnot10 |
T |
A |
9: 114,460,949 (GRCm39) |
K74* |
probably null |
Het |
| Ermard |
T |
C |
17: 15,280,128 (GRCm39) |
S130P |
possibly damaging |
Het |
| Fbxl5 |
A |
G |
5: 43,920,305 (GRCm39) |
|
probably benign |
Het |
| Gad2 |
G |
A |
2: 22,575,422 (GRCm39) |
V509I |
probably benign |
Het |
| Inmt |
C |
A |
6: 55,148,203 (GRCm39) |
C142F |
probably damaging |
Het |
| Kcnh8 |
GAGACCAACGAGCAGCTGATGCTTCAGA |
GAGA |
17: 53,032,934 (GRCm39) |
74 |
probably benign |
Het |
| Kmt2c |
A |
T |
5: 25,556,060 (GRCm39) |
D1228E |
possibly damaging |
Het |
| Marf1 |
T |
A |
16: 13,960,505 (GRCm39) |
Y513F |
possibly damaging |
Het |
| Msh2 |
G |
A |
17: 87,996,566 (GRCm39) |
E425K |
probably benign |
Het |
| Or6n2 |
T |
C |
1: 173,897,043 (GRCm39) |
Y60H |
probably benign |
Het |
| Poc1b |
A |
G |
10: 98,992,161 (GRCm39) |
D326G |
probably damaging |
Het |
| Rbp3 |
G |
C |
14: 33,677,253 (GRCm39) |
E400D |
probably benign |
Het |
| Rsf1 |
A |
G |
7: 97,334,683 (GRCm39) |
K1272R |
possibly damaging |
Het |
| Sec24c |
G |
A |
14: 20,740,841 (GRCm39) |
V620M |
probably damaging |
Het |
| Trim3 |
C |
T |
7: 105,267,606 (GRCm39) |
A264T |
probably damaging |
Het |
| Ubr2 |
G |
C |
17: 47,250,313 (GRCm39) |
H1545D |
probably benign |
Het |
| Vps13a |
A |
T |
19: 16,678,529 (GRCm39) |
C1151S |
probably damaging |
Het |
| Zap70 |
C |
T |
1: 36,820,042 (GRCm39) |
R471W |
probably damaging |
Het |
| Zfp329 |
G |
A |
7: 12,545,584 (GRCm39) |
|
probably benign |
Het |
| Zfp606 |
A |
T |
7: 12,227,928 (GRCm39) |
Y625F |
probably damaging |
Het |
|
| Other mutations in Des |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01285:Des
|
APN |
1 |
75,339,227 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02416:Des
|
APN |
1 |
75,339,372 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02953:Des
|
APN |
1 |
75,340,288 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL03156:Des
|
APN |
1 |
75,339,640 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03288:Des
|
APN |
1 |
75,338,985 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R0032:Des
|
UTSW |
1 |
75,338,810 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R0849:Des
|
UTSW |
1 |
75,337,272 (GRCm39) |
missense |
probably benign |
|
|
R0885:Des
|
UTSW |
1 |
75,337,374 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1271:Des
|
UTSW |
1 |
75,337,290 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1452:Des
|
UTSW |
1 |
75,340,121 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1559:Des
|
UTSW |
1 |
75,337,230 (GRCm39) |
missense |
probably benign |
0.11 |
|
R1929:Des
|
UTSW |
1 |
75,340,137 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2144:Des
|
UTSW |
1 |
75,343,448 (GRCm39) |
missense |
probably benign |
0.45 |
|
R2145:Des
|
UTSW |
1 |
75,340,108 (GRCm39) |
splice site |
probably benign |
|
|
R2271:Des
|
UTSW |
1 |
75,340,137 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4182:Des
|
UTSW |
1 |
75,339,228 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4184:Des
|
UTSW |
1 |
75,339,228 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5268:Des
|
UTSW |
1 |
75,339,572 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R5787:Des
|
UTSW |
1 |
75,340,290 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5974:Des
|
UTSW |
1 |
75,339,628 (GRCm39) |
missense |
probably benign |
0.10 |
|
R6044:Des
|
UTSW |
1 |
75,340,113 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R6985:Des
|
UTSW |
1 |
75,343,431 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R7359:Des
|
UTSW |
1 |
75,337,596 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7467:Des
|
UTSW |
1 |
75,339,605 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R7798:Des
|
UTSW |
1 |
75,339,003 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8878:Des
|
UTSW |
1 |
75,337,137 (GRCm39) |
missense |
unknown |
|
|
R8957:Des
|
UTSW |
1 |
75,340,295 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9245:Des
|
UTSW |
1 |
75,343,406 (GRCm39) |
missense |
probably benign |
0.17 |
|
R9258:Des
|
UTSW |
1 |
75,340,289 (GRCm39) |
missense |
probably benign |
0.21 |
|
R9507:Des
|
UTSW |
1 |
75,343,434 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9707:Des
|
UTSW |
1 |
75,337,533 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
| Predicted Primers |
PCR Primer
(F):5'- AATGACATCCCGCGTGTAC -3'
(R):5'- GTCTATCAGGTTGTCACGCTC -3'
Sequencing Primer
(F):5'- ATCCCGCGTGTACCAGGTG -3'
(R):5'- CTCCACGTCGACCCGGG -3'
|
| Posted On |
2015-07-06 |
Incidental Mutation