Incidental Mutation 'R6695:Dmwd'
ID |
528534 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dmwd
|
Ensembl Gene |
ENSMUSG00000030410 |
Gene Name |
dystrophia myotonica-containing WD repeat motif |
Synonyms |
Dm9, DMR-N9, 59 |
MMRRC Submission |
044813-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.181)
|
Stock # |
R6695 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
18810152-18816701 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 18814652 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Glutamine
at position 434
(L434Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000104119
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032568]
[ENSMUST00000032570]
[ENSMUST00000108473]
[ENSMUST00000108474]
[ENSMUST00000108479]
[ENSMUST00000122999]
[ENSMUST00000154199]
|
AlphaFold |
Q08274 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000032568
|
SMART Domains |
Protein: ENSMUSP00000032568 Gene: ENSMUSG00000030409
Domain | Start | End | E-Value | Type |
low complexity region
|
5 |
31 |
N/A |
INTRINSIC |
S_TKc
|
71 |
339 |
6.5e-87 |
SMART |
S_TK_X
|
340 |
407 |
3.6e-11 |
SMART |
Pfam:DMPK_coil
|
472 |
532 |
2.8e-25 |
PFAM |
low complexity region
|
590 |
613 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000032570
AA Change: L434Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000032570 Gene: ENSMUSG00000030410 AA Change: L434Q
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: ENSMUST00000108473
|
SMART Domains |
Protein: ENSMUSP00000104113 Gene: ENSMUSG00000030409
Domain | Start | End | E-Value | Type |
low complexity region
|
5 |
31 |
N/A |
INTRINSIC |
S_TKc
|
71 |
339 |
1.36e-84 |
SMART |
S_TK_X
|
340 |
407 |
7.5e-9 |
SMART |
Pfam:DMPK_coil
|
472 |
532 |
2.2e-28 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000108474
|
SMART Domains |
Protein: ENSMUSP00000104114 Gene: ENSMUSG00000030409
Domain | Start | End | E-Value | Type |
low complexity region
|
5 |
31 |
N/A |
INTRINSIC |
S_TKc
|
71 |
336 |
2.57e-76 |
SMART |
Pfam:DMPK_coil
|
446 |
506 |
2.4e-28 |
PFAM |
low complexity region
|
564 |
587 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000108479
AA Change: L434Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000104119 Gene: ENSMUSG00000030410 AA Change: L434Q
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 |
probably benign
Transcript: ENSMUST00000122999
|
SMART Domains |
Protein: ENSMUSP00000123516 Gene: ENSMUSG00000030409
Domain | Start | End | E-Value | Type |
low complexity region
|
5 |
31 |
N/A |
INTRINSIC |
PDB:2VD5|B
|
32 |
139 |
3e-62 |
PDB |
SCOP:d1koba_
|
44 |
139 |
3e-21 |
SMART |
Blast:S_TKc
|
71 |
139 |
7e-36 |
BLAST |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149188
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146429
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138997
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000154199
|
SMART Domains |
Protein: ENSMUSP00000118459 Gene: ENSMUSG00000030409
Domain | Start | End | E-Value | Type |
low complexity region
|
5 |
31 |
N/A |
INTRINSIC |
S_TKc
|
71 |
339 |
1.36e-84 |
SMART |
S_TK_X
|
340 |
402 |
5.3e-9 |
SMART |
Pfam:DMPK_coil
|
467 |
527 |
2.3e-28 |
PFAM |
|
Meta Mutation Damage Score |
0.8933 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.8%
|
Validation Efficiency |
98% (45/46) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ankrd9 |
A |
T |
12: 110,943,497 (GRCm39) |
L179H |
probably benign |
Het |
Cacna1h |
C |
A |
17: 25,612,714 (GRCm39) |
A370S |
probably damaging |
Het |
Cc2d2a |
A |
T |
5: 43,876,019 (GRCm39) |
I1053F |
probably damaging |
Het |
Csmd3 |
A |
G |
15: 47,721,230 (GRCm39) |
V1467A |
probably damaging |
Het |
Cyp4f15 |
T |
A |
17: 32,911,586 (GRCm39) |
L156* |
probably null |
Het |
Dtx4 |
T |
A |
19: 12,450,599 (GRCm39) |
R538* |
probably null |
Het |
Fcgbp |
T |
A |
7: 27,785,695 (GRCm39) |
C377* |
probably null |
Het |
Galntl6 |
G |
T |
8: 58,880,804 (GRCm39) |
H116Q |
probably damaging |
Het |
Herc1 |
T |
A |
9: 66,391,148 (GRCm39) |
|
probably null |
Het |
Hydin |
T |
G |
8: 111,053,092 (GRCm39) |
S255A |
probably benign |
Het |
Knstrn |
G |
A |
2: 118,644,723 (GRCm39) |
A48T |
probably damaging |
Het |
Lonrf2 |
T |
C |
1: 38,852,470 (GRCm39) |
D127G |
probably benign |
Het |
Luzp1 |
T |
C |
4: 136,272,609 (GRCm39) |
S12P |
possibly damaging |
Het |
Man2c1 |
A |
T |
9: 57,048,875 (GRCm39) |
H822L |
probably benign |
Het |
Map3k13 |
G |
T |
16: 21,741,028 (GRCm39) |
G785V |
probably benign |
Het |
Mia2 |
A |
G |
12: 59,219,366 (GRCm39) |
H454R |
probably damaging |
Het |
Mib2 |
G |
A |
4: 155,745,629 (GRCm39) |
R61C |
probably damaging |
Het |
Muc15 |
A |
T |
2: 110,561,616 (GRCm39) |
L17F |
probably damaging |
Het |
Myo1c |
C |
T |
11: 75,562,461 (GRCm39) |
P918S |
probably benign |
Het |
Nav2 |
A |
G |
7: 49,114,652 (GRCm39) |
I879V |
probably benign |
Het |
Nomo1 |
T |
A |
7: 45,715,885 (GRCm39) |
S751T |
probably benign |
Het |
Or1j10 |
A |
T |
2: 36,267,117 (GRCm39) |
S110C |
probably benign |
Het |
Or5b24 |
A |
T |
19: 12,912,764 (GRCm39) |
I221L |
possibly damaging |
Het |
Or5g27 |
A |
G |
2: 85,409,793 (GRCm39) |
D70G |
probably damaging |
Het |
Pcdhac2 |
A |
G |
18: 37,278,256 (GRCm39) |
N412S |
probably benign |
Het |
Plk5 |
T |
C |
10: 80,196,035 (GRCm39) |
S235P |
probably benign |
Het |
Ppm1j |
A |
G |
3: 104,692,802 (GRCm39) |
D437G |
probably damaging |
Het |
Rab11fip1 |
T |
C |
8: 27,633,262 (GRCm39) |
E1148G |
probably damaging |
Het |
Rad9b |
T |
C |
5: 122,489,754 (GRCm39) |
N43S |
probably damaging |
Het |
Rc3h2 |
A |
C |
2: 37,304,673 (GRCm39) |
I29S |
possibly damaging |
Het |
Rsf1 |
CG |
CGACGGCGGGG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Homo |
Spdl1 |
T |
A |
11: 34,713,830 (GRCm39) |
|
probably null |
Het |
Spta1 |
A |
T |
1: 174,071,608 (GRCm39) |
|
probably null |
Het |
Stk32c |
A |
T |
7: 138,702,880 (GRCm39) |
V53E |
probably damaging |
Het |
Strc |
A |
T |
2: 121,207,705 (GRCm39) |
F555L |
probably benign |
Het |
Sugct |
T |
G |
13: 17,497,815 (GRCm39) |
N286T |
possibly damaging |
Het |
Swsap1 |
A |
T |
9: 21,867,971 (GRCm39) |
|
probably null |
Het |
Thbs2 |
T |
A |
17: 14,894,426 (GRCm39) |
D807V |
possibly damaging |
Het |
Tnrc6b |
A |
G |
15: 80,763,974 (GRCm39) |
D492G |
probably damaging |
Het |
Tonsl |
A |
T |
15: 76,514,018 (GRCm39) |
S1184T |
possibly damaging |
Het |
Tpp2 |
T |
A |
1: 44,022,436 (GRCm39) |
Y945N |
probably benign |
Het |
Usp54 |
G |
T |
14: 20,610,937 (GRCm39) |
A1293D |
possibly damaging |
Het |
Vps52 |
A |
T |
17: 34,182,173 (GRCm39) |
K516* |
probably null |
Het |
Zbtb17 |
T |
A |
4: 141,189,110 (GRCm39) |
V10D |
probably damaging |
Het |
Zfp607b |
T |
C |
7: 27,403,464 (GRCm39) |
V640A |
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 |
IGL03133:Dmwd
|
APN |
7 |
18,810,562 (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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- ACGCTGTAGCCTTTGATCCC -3'
(R):5'- AGGCTCCATCGATGCACTAG -3'
Sequencing Primer
(F):5'- TGATCCCTACACCACTCGCG -3'
(R):5'- TCGATGCACTAGGCCCAC -3'
|
Posted On |
2018-07-24 |