Incidental Mutation 'IGL03133:Dmwd'
ID |
410412 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Dmwd
|
Ensembl Gene |
ENSMUSG00000030410 |
Gene Name |
dystrophia myotonica-containing WD repeat motif |
Synonyms |
Dm9, DMR-N9, 59 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.181)
|
Stock # |
IGL03133
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
18810152-18816701 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 18810562 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Aspartic acid
at position 123
(V123D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000104119
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032570]
[ENSMUST00000035521]
[ENSMUST00000076887]
[ENSMUST00000108479]
|
AlphaFold |
Q08274 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000032570
AA Change: V123D
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000032570 Gene: ENSMUSG00000030410 AA Change: V123D
Domain | Start | End | E-Value | Type |
low complexity region
|
1 |
17 |
N/A |
INTRINSIC |
low complexity region
|
44 |
92 |
N/A |
INTRINSIC |
WD40
|
203 |
239 |
4.11e1 |
SMART |
WD40
|
270 |
309 |
3.5e-4 |
SMART |
WD40
|
312 |
351 |
2.01e-4 |
SMART |
WD40
|
354 |
436 |
8.36e-2 |
SMART |
low complexity region
|
450 |
471 |
N/A |
INTRINSIC |
low complexity region
|
477 |
503 |
N/A |
INTRINSIC |
Blast:WD40
|
509 |
620 |
1e-43 |
BLAST |
low complexity region
|
653 |
662 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000035521
|
SMART Domains |
Protein: ENSMUSP00000046526 Gene: ENSMUSG00000040866
Domain | Start | End | E-Value | Type |
low complexity region
|
42 |
56 |
N/A |
INTRINSIC |
Pfam:Radial_spoke
|
191 |
685 |
2.3e-200 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000076887
|
SMART Domains |
Protein: ENSMUSP00000076153 Gene: ENSMUSG00000040866
Domain | Start | End | E-Value | Type |
low complexity region
|
42 |
56 |
N/A |
INTRINSIC |
Pfam:Radial_spoke
|
188 |
287 |
3e-18 |
PFAM |
Pfam:Radial_spoke
|
285 |
433 |
4.6e-53 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000108479
AA Change: V123D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000104119 Gene: ENSMUSG00000030410 AA Change: V123D
Domain | Start | End | E-Value | Type |
low complexity region
|
1 |
17 |
N/A |
INTRINSIC |
low complexity region
|
44 |
92 |
N/A |
INTRINSIC |
WD40
|
203 |
239 |
4.11e1 |
SMART |
WD40
|
270 |
309 |
3.5e-4 |
SMART |
WD40
|
312 |
351 |
2.01e-4 |
SMART |
WD40
|
354 |
436 |
8.36e-2 |
SMART |
low complexity region
|
450 |
471 |
N/A |
INTRINSIC |
low complexity region
|
477 |
503 |
N/A |
INTRINSIC |
Blast:WD40
|
509 |
620 |
1e-43 |
BLAST |
low complexity region
|
628 |
637 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138997
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146429
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 27 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adarb1 |
T |
C |
10: 77,161,730 (GRCm39) |
|
probably benign |
Het |
Ano5 |
C |
T |
7: 51,226,260 (GRCm39) |
R505* |
probably null |
Het |
Asphd1 |
A |
G |
7: 126,547,452 (GRCm39) |
C284R |
possibly damaging |
Het |
Cep192 |
T |
A |
18: 67,943,176 (GRCm39) |
W158R |
probably benign |
Het |
Ces2h |
T |
A |
8: 105,743,411 (GRCm39) |
D188E |
probably damaging |
Het |
Dab1 |
G |
A |
4: 104,584,777 (GRCm39) |
V306I |
probably benign |
Het |
Dcc |
A |
G |
18: 71,396,026 (GRCm39) |
|
probably benign |
Het |
Dennd6b |
T |
A |
15: 89,072,726 (GRCm39) |
|
probably null |
Het |
Eno1 |
A |
G |
4: 150,329,801 (GRCm39) |
|
probably benign |
Het |
Fat2 |
G |
A |
11: 55,176,869 (GRCm39) |
T1542I |
probably benign |
Het |
Fcrl1 |
T |
C |
3: 87,296,699 (GRCm39) |
S274P |
probably benign |
Het |
Gmpr |
T |
C |
13: 45,670,494 (GRCm39) |
V72A |
probably benign |
Het |
Kank2 |
T |
C |
9: 21,706,937 (GRCm39) |
E27G |
probably null |
Het |
Mtor |
G |
T |
4: 148,568,776 (GRCm39) |
A1099S |
probably benign |
Het |
Ofcc1 |
T |
C |
13: 40,226,244 (GRCm39) |
I763V |
probably benign |
Het |
Or5m10 |
G |
T |
2: 85,717,478 (GRCm39) |
E111D |
probably damaging |
Het |
Or5p63 |
G |
T |
7: 107,811,594 (GRCm39) |
S47R |
possibly damaging |
Het |
Or8b12i |
T |
A |
9: 20,082,009 (GRCm39) |
N286I |
probably damaging |
Het |
Or8k27 |
A |
G |
2: 86,276,002 (GRCm39) |
I108T |
probably damaging |
Het |
Piwil1 |
C |
A |
5: 128,819,093 (GRCm39) |
H201N |
probably benign |
Het |
Slc26a7 |
C |
T |
4: 14,532,576 (GRCm39) |
V433M |
possibly damaging |
Het |
Spata31d1c |
T |
C |
13: 65,182,799 (GRCm39) |
Y114H |
probably benign |
Het |
Stx7 |
A |
T |
10: 24,060,936 (GRCm39) |
N221I |
probably damaging |
Het |
Tbc1d31 |
A |
T |
15: 57,805,855 (GRCm39) |
|
probably benign |
Het |
Ubxn7 |
T |
G |
16: 32,200,599 (GRCm39) |
L393R |
probably damaging |
Het |
Vit |
A |
T |
17: 78,873,500 (GRCm39) |
M59L |
probably benign |
Het |
Vmn1r5 |
T |
A |
6: 56,962,600 (GRCm39) |
C92S |
probably benign |
Het |
|
Other mutations in Dmwd |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01620:Dmwd
|
APN |
7 |
18,815,159 (GRCm39) |
splice site |
probably null |
|
IGL01668:Dmwd
|
APN |
7 |
18,815,080 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02705:Dmwd
|
APN |
7 |
18,814,769 (GRCm39) |
missense |
probably benign |
0.02 |
IGL03036:Dmwd
|
APN |
7 |
18,815,054 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4305001:Dmwd
|
UTSW |
7 |
18,814,643 (GRCm39) |
missense |
probably damaging |
0.99 |
R0172:Dmwd
|
UTSW |
7 |
18,814,267 (GRCm39) |
missense |
probably damaging |
1.00 |
R1619:Dmwd
|
UTSW |
7 |
18,814,959 (GRCm39) |
unclassified |
probably benign |
|
R2055:Dmwd
|
UTSW |
7 |
18,810,610 (GRCm39) |
missense |
probably benign |
0.34 |
R2058:Dmwd
|
UTSW |
7 |
18,814,652 (GRCm39) |
missense |
probably damaging |
1.00 |
R2403:Dmwd
|
UTSW |
7 |
18,815,084 (GRCm39) |
missense |
possibly damaging |
0.94 |
R2922:Dmwd
|
UTSW |
7 |
18,810,270 (GRCm39) |
missense |
probably damaging |
1.00 |
R3122:Dmwd
|
UTSW |
7 |
18,814,620 (GRCm39) |
missense |
probably damaging |
1.00 |
R4876:Dmwd
|
UTSW |
7 |
18,814,472 (GRCm39) |
missense |
probably damaging |
1.00 |
R4937:Dmwd
|
UTSW |
7 |
18,815,228 (GRCm39) |
critical splice donor site |
probably null |
|
R5018:Dmwd
|
UTSW |
7 |
18,812,044 (GRCm39) |
missense |
probably damaging |
0.99 |
R5034:Dmwd
|
UTSW |
7 |
18,814,219 (GRCm39) |
missense |
probably damaging |
1.00 |
R5165:Dmwd
|
UTSW |
7 |
18,811,960 (GRCm39) |
intron |
probably benign |
|
R5265:Dmwd
|
UTSW |
7 |
18,814,206 (GRCm39) |
missense |
possibly damaging |
0.89 |
R5559:Dmwd
|
UTSW |
7 |
18,814,363 (GRCm39) |
missense |
probably damaging |
0.99 |
R6695:Dmwd
|
UTSW |
7 |
18,814,652 (GRCm39) |
missense |
probably damaging |
1.00 |
R7106:Dmwd
|
UTSW |
7 |
18,814,454 (GRCm39) |
missense |
probably damaging |
1.00 |
R7208:Dmwd
|
UTSW |
7 |
18,814,234 (GRCm39) |
missense |
probably benign |
0.05 |
R7681:Dmwd
|
UTSW |
7 |
18,815,007 (GRCm39) |
missense |
probably benign |
0.23 |
R7683:Dmwd
|
UTSW |
7 |
18,814,660 (GRCm39) |
missense |
probably damaging |
1.00 |
R7760:Dmwd
|
UTSW |
7 |
18,814,660 (GRCm39) |
missense |
probably damaging |
1.00 |
R7763:Dmwd
|
UTSW |
7 |
18,814,265 (GRCm39) |
missense |
probably damaging |
1.00 |
R7814:Dmwd
|
UTSW |
7 |
18,814,768 (GRCm39) |
missense |
probably benign |
0.02 |
R8000:Dmwd
|
UTSW |
7 |
18,814,660 (GRCm39) |
missense |
probably damaging |
1.00 |
R8697:Dmwd
|
UTSW |
7 |
18,812,113 (GRCm39) |
missense |
probably damaging |
1.00 |
R8868:Dmwd
|
UTSW |
7 |
18,814,694 (GRCm39) |
missense |
probably damaging |
1.00 |
R8971:Dmwd
|
UTSW |
7 |
18,814,973 (GRCm39) |
missense |
probably damaging |
1.00 |
R9089:Dmwd
|
UTSW |
7 |
18,811,980 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Posted On |
2016-08-02 |