Incidental Mutation 'R0714:Dmd'
| ID |
85936 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dmd
|
| Ensembl Gene |
ENSMUSG00000045103 |
| Gene Name |
dystrophin, muscular dystrophy |
| Synonyms |
Duchenne muscular dystrophy, pke, dys, Dp71, Dp427, X-linked muscular dystrophy, mdx |
| MMRRC Submission |
038897-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.829)
|
| Stock # |
R0714 (G1)
|
| Quality Score |
222 |
|
Status
|
Validated
|
| Chromosome |
X |
| Chromosomal Location |
81992476-84249747 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 83353503 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 2240
(L2240P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109633
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000114000]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114000
AA Change: L2240P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000109633
Gene: ENSMUSG00000045103
AA Change: L2240P
| Domain | Start | End | E-Value | Type |
|---|
|
CH
|
17 |
117 |
5.94e-27 |
SMART |
|
CH
|
136 |
235 |
3.83e-21 |
SMART |
|
SPEC
|
344 |
448 |
7.39e-17 |
SMART |
|
SPEC
|
453 |
557 |
6.49e-13 |
SMART |
|
SPEC
|
564 |
668 |
9.73e-2 |
SMART |
|
low complexity region
|
672 |
695 |
N/A |
INTRINSIC |
|
SPEC
|
724 |
829 |
9.18e-13 |
SMART |
|
SPEC
|
835 |
935 |
2.28e-1 |
SMART |
|
SPEC
|
944 |
1046 |
9.34e-2 |
SMART |
|
SPEC
|
1053 |
1155 |
7.99e-13 |
SMART |
|
SPEC
|
1162 |
1264 |
7.52e-9 |
SMART |
|
SPEC
|
1271 |
1368 |
5.53e-7 |
SMART |
|
SPEC
|
1470 |
1569 |
7.29e-7 |
SMART |
|
SPEC
|
1576 |
1677 |
8.29e-1 |
SMART |
|
SPEC
|
1684 |
1781 |
1.82e-1 |
SMART |
|
SPEC
|
1786 |
1875 |
3.48e0 |
SMART |
|
SPEC
|
1882 |
1972 |
6.69e-2 |
SMART |
|
SPEC
|
2000 |
2102 |
1.45e0 |
SMART |
|
SPEC
|
2109 |
2209 |
6.15e-14 |
SMART |
|
SPEC
|
2216 |
2317 |
8.9e-11 |
SMART |
|
low complexity region
|
2325 |
2337 |
N/A |
INTRINSIC |
|
low complexity region
|
2432 |
2444 |
N/A |
INTRINSIC |
|
SPEC
|
2466 |
2569 |
1.65e-14 |
SMART |
|
SPEC
|
2576 |
2678 |
1.2e-7 |
SMART |
|
SPEC
|
2685 |
2794 |
9.84e-13 |
SMART |
|
SPEC
|
2801 |
2923 |
8.38e-7 |
SMART |
|
SPEC
|
2930 |
3032 |
1.21e-12 |
SMART |
|
WW
|
3049 |
3081 |
1.36e-10 |
SMART |
|
Pfam:EF-hand_2
|
3082 |
3200 |
1.7e-42 |
PFAM |
|
Pfam:EF-hand_3
|
3204 |
3295 |
6.6e-41 |
PFAM |
|
ZnF_ZZ
|
3300 |
3345 |
7.39e-18 |
SMART |
|
coiled coil region
|
3488 |
3598 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139998
|
| Meta Mutation Damage Score |
0.0830 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.6%
- 20x: 95.5%
|
| Validation Efficiency |
100% (52/52) |
| MGI Phenotype |
FUNCTION: This gene encodes a large, rod-like cytoskeletal protein which is found at the inner surface of muscle fibers in skeletal and cardiac muscles. The encoded protein, dystrophin, is part of the dystrophin-glycoprotein complex, which bridges the inner cytoskeleton (F-actin) and the extra-cellular matrix. This protein is required for proper development and organization of myofibers as contractile units in striated muscles. Mutations in the human gene cause Duchenne and Becker Muscular Dystrophies and a form of heart disease called DMD-associated dilated cardiomyopathy. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Sep 2015]
PHENOTYPE: Mutations in this gene cause muscular dystrophy. Phenotypic variation has been observed in different backgrounds. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd17b |
G |
A |
19: 21,655,973 (GRCm39) |
R85H |
probably damaging |
Het |
| Adamts13 |
A |
G |
2: 26,876,997 (GRCm39) |
|
probably benign |
Het |
| Alb |
T |
C |
5: 90,610,665 (GRCm39) |
S82P |
possibly damaging |
Het |
| Arhgap10 |
G |
A |
8: 78,078,316 (GRCm39) |
|
probably benign |
Het |
| Aspscr1 |
T |
A |
11: 120,594,493 (GRCm39) |
|
probably null |
Het |
| Capn3 |
A |
T |
2: 120,322,361 (GRCm39) |
Q359L |
probably benign |
Het |
| Ccdc110 |
A |
T |
8: 46,396,047 (GRCm39) |
D646V |
possibly damaging |
Het |
| Ccr2 |
G |
A |
9: 123,905,966 (GRCm39) |
G82D |
probably benign |
Het |
| Col6a4 |
A |
G |
9: 105,895,102 (GRCm39) |
|
probably benign |
Het |
| Dhx29 |
T |
C |
13: 113,064,499 (GRCm39) |
V58A |
possibly damaging |
Het |
| Dhx35 |
C |
A |
2: 158,686,103 (GRCm39) |
Q593K |
probably benign |
Het |
| Emc7 |
A |
G |
2: 112,293,277 (GRCm39) |
N162S |
possibly damaging |
Het |
| Exoc7 |
A |
T |
11: 116,184,120 (GRCm39) |
N483K |
probably benign |
Het |
| Fbxo34 |
T |
C |
14: 47,767,486 (GRCm39) |
V282A |
probably damaging |
Het |
| Fndc3c1 |
A |
T |
X: 105,468,972 (GRCm39) |
Y1087* |
probably null |
Het |
| Kat2a |
A |
G |
11: 100,602,178 (GRCm39) |
V192A |
probably damaging |
Het |
| Larp7 |
T |
C |
3: 127,340,833 (GRCm39) |
D64G |
probably damaging |
Het |
| Lnx1 |
A |
G |
5: 74,768,570 (GRCm39) |
|
probably benign |
Het |
| Mib2 |
C |
T |
4: 155,743,917 (GRCm39) |
G42S |
probably damaging |
Het |
| Nckipsd |
C |
A |
9: 108,691,333 (GRCm39) |
|
probably benign |
Het |
| Ndufab1 |
A |
G |
7: 121,695,960 (GRCm39) |
|
probably benign |
Het |
| Nedd4 |
G |
A |
9: 72,638,728 (GRCm39) |
|
probably benign |
Het |
| Nrsn2 |
G |
A |
2: 152,216,042 (GRCm39) |
R54* |
probably null |
Het |
| Nt5dc3 |
T |
A |
10: 86,648,238 (GRCm39) |
V171E |
probably damaging |
Het |
| Nudt8 |
A |
G |
19: 4,052,023 (GRCm39) |
*211W |
probably null |
Het |
| Nxph4 |
A |
G |
10: 127,362,808 (GRCm39) |
S28P |
probably damaging |
Het |
| Or4f14b |
A |
G |
2: 111,774,898 (GRCm39) |
V301A |
probably benign |
Het |
| Or8k17 |
A |
C |
2: 86,066,498 (GRCm39) |
L227R |
probably damaging |
Het |
| Or9g4b |
A |
G |
2: 85,616,743 (GRCm39) |
D296G |
probably damaging |
Het |
| Pcdhb15 |
A |
G |
18: 37,607,674 (GRCm39) |
Y302C |
probably damaging |
Het |
| Pkdrej |
A |
G |
15: 85,699,712 (GRCm39) |
S2075P |
possibly damaging |
Het |
| Sdhc |
A |
T |
1: 170,957,488 (GRCm39) |
|
probably benign |
Het |
| Sidt2 |
A |
G |
9: 45,858,358 (GRCm39) |
|
probably benign |
Het |
| Sik2 |
T |
C |
9: 50,818,736 (GRCm39) |
M413V |
probably benign |
Het |
| Slc5a4b |
A |
G |
10: 75,917,341 (GRCm39) |
F232L |
probably benign |
Het |
| Slx1b |
A |
T |
7: 126,291,620 (GRCm39) |
I148N |
probably damaging |
Het |
| Spag17 |
C |
G |
3: 99,987,472 (GRCm39) |
S1587R |
probably damaging |
Het |
| St13 |
T |
C |
15: 81,267,228 (GRCm39) |
D74G |
probably benign |
Het |
| St7l |
G |
A |
3: 104,782,244 (GRCm39) |
R207H |
probably benign |
Het |
| Syne2 |
AGAGTGAG |
AGAGTGAGTGAG |
12: 76,144,734 (GRCm39) |
|
probably null |
Het |
| Tacc3 |
T |
C |
5: 33,828,741 (GRCm39) |
|
probably benign |
Het |
| Tbx22 |
G |
A |
X: 106,728,731 (GRCm39) |
V421I |
probably benign |
Het |
| Tmc3 |
G |
A |
7: 83,265,969 (GRCm39) |
A705T |
possibly damaging |
Het |
| Tmem130 |
C |
T |
5: 144,674,619 (GRCm39) |
V369M |
probably damaging |
Het |
| Tonsl |
T |
C |
15: 76,517,921 (GRCm39) |
|
probably benign |
Het |
| Trpm6 |
T |
A |
19: 18,815,451 (GRCm39) |
I1179N |
possibly damaging |
Het |
| Ttc13 |
A |
T |
8: 125,401,105 (GRCm39) |
S624T |
probably damaging |
Het |
| Utp23 |
T |
G |
15: 51,745,665 (GRCm39) |
V55G |
possibly damaging |
Het |
| Vps11 |
A |
G |
9: 44,270,953 (GRCm39) |
V143A |
possibly damaging |
Het |
| Vps50 |
G |
T |
6: 3,571,105 (GRCm39) |
V618F |
probably benign |
Het |
|
| Other mutations in Dmd |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00771:Dmd
|
APN |
X |
82,951,978 (GRCm39) |
splice site |
probably null |
|
|
IGL00823:Dmd
|
APN |
X |
83,469,419 (GRCm39) |
splice site |
probably null |
|
|
IGL01160:Dmd
|
APN |
X |
82,968,567 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01285:Dmd
|
APN |
X |
84,153,590 (GRCm39) |
nonsense |
probably null |
|
|
IGL01294:Dmd
|
APN |
X |
83,475,604 (GRCm39) |
splice site |
probably null |
|
|
IGL02426:Dmd
|
APN |
X |
83,892,342 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02610:Dmd
|
APN |
X |
82,707,762 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02887:Dmd
|
APN |
X |
82,922,110 (GRCm39) |
missense |
probably benign |
0.44 |
|
IGL03268:Dmd
|
APN |
X |
82,849,814 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03301:Dmd
|
APN |
X |
82,952,120 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0480:Dmd
|
UTSW |
X |
83,469,344 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1296:Dmd
|
UTSW |
X |
82,922,126 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1448:Dmd
|
UTSW |
X |
83,892,306 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1678:Dmd
|
UTSW |
X |
84,018,368 (GRCm39) |
missense |
probably benign |
0.43 |
|
R1714:Dmd
|
UTSW |
X |
83,008,356 (GRCm39) |
missense |
probably benign |
0.17 |
|
R1951:Dmd
|
UTSW |
X |
82,874,123 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1952:Dmd
|
UTSW |
X |
82,874,123 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1953:Dmd
|
UTSW |
X |
82,874,123 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1955:Dmd
|
UTSW |
X |
82,922,163 (GRCm39) |
missense |
probably benign |
0.10 |
|
R2072:Dmd
|
UTSW |
X |
83,356,089 (GRCm39) |
missense |
probably benign |
0.33 |
|
R2073:Dmd
|
UTSW |
X |
83,356,089 (GRCm39) |
missense |
probably benign |
0.33 |
|
R2074:Dmd
|
UTSW |
X |
83,356,089 (GRCm39) |
missense |
probably benign |
0.33 |
|
R2075:Dmd
|
UTSW |
X |
83,356,089 (GRCm39) |
missense |
probably benign |
0.33 |
|
R2118:Dmd
|
UTSW |
X |
83,356,089 (GRCm39) |
missense |
probably benign |
0.33 |
|
R2119:Dmd
|
UTSW |
X |
83,356,089 (GRCm39) |
missense |
probably benign |
0.33 |
|
R2120:Dmd
|
UTSW |
X |
83,356,089 (GRCm39) |
missense |
probably benign |
0.33 |
|
R2122:Dmd
|
UTSW |
X |
83,356,089 (GRCm39) |
missense |
probably benign |
0.33 |
|
R4398:Dmd
|
UTSW |
X |
82,765,624 (GRCm39) |
missense |
probably benign |
0.01 |
|
X0025:Dmd
|
UTSW |
X |
83,690,800 (GRCm39) |
missense |
probably benign |
|
|
Z1088:Dmd
|
UTSW |
X |
83,619,366 (GRCm39) |
missense |
probably benign |
0.05 |
|
Z1088:Dmd
|
UTSW |
X |
82,922,101 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
Z1176:Dmd
|
UTSW |
X |
82,922,090 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
Z1176:Dmd
|
UTSW |
X |
82,670,892 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Dmd
|
UTSW |
X |
82,670,877 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AACAACTGTTCAAAGCGGATGAAACAAA -3'
(R):5'- AGCAGATTGCAAAGTTCTTCCCACTTA -3'
Sequencing Primer
(F):5'- acccctcccccttctcc -3'
(R):5'- AAACaactggtaggcagtttg -3'
|
| Posted On |
2013-11-18 |
Incidental Mutation