Incidental Mutation 'R5559:Dmwd'
| ID |
436456 |
| 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 |
043116-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.181)
|
| Stock # |
R5559 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
18810152-18816701 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 18814363 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 338
(V338M)
|
| 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: V338M
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000032570
Gene: ENSMUSG00000030410
AA Change: V338M
| 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: V338M
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000104119
Gene: ENSMUSG00000030410
AA Change: V338M
| 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: ENSMUST00000138997
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146429
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149188
|
| 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 |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.3%
- 20x: 94.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310034C09Rik |
G |
T |
16: 88,555,981 (GRCm39) |
R65L |
unknown |
Het |
| Abcc5 |
A |
T |
16: 20,157,636 (GRCm39) |
M1307K |
probably damaging |
Het |
| Anapc1 |
A |
T |
2: 128,522,354 (GRCm39) |
C129* |
probably null |
Het |
| Brd10 |
A |
C |
19: 29,694,363 (GRCm39) |
F1710C |
possibly damaging |
Het |
| Brox |
A |
T |
1: 183,073,552 (GRCm39) |
S39R |
possibly damaging |
Het |
| Ccdc168 |
C |
G |
1: 44,097,675 (GRCm39) |
R1141T |
possibly damaging |
Het |
| Cd109 |
T |
C |
9: 78,568,250 (GRCm39) |
V310A |
probably benign |
Het |
| Chd9 |
G |
A |
8: 91,742,553 (GRCm39) |
|
probably null |
Het |
| Chmp2b |
A |
T |
16: 65,337,316 (GRCm39) |
I170N |
probably damaging |
Het |
| Cnp |
G |
T |
11: 100,467,243 (GRCm39) |
G62V |
probably damaging |
Het |
| Dcp2 |
C |
A |
18: 44,538,554 (GRCm39) |
P206T |
probably damaging |
Het |
| Dhx57 |
A |
T |
17: 80,561,808 (GRCm39) |
V902E |
possibly damaging |
Het |
| Eva1c |
A |
G |
16: 90,701,139 (GRCm39) |
D258G |
probably benign |
Het |
| Flvcr2 |
T |
A |
12: 85,851,181 (GRCm39) |
F448L |
probably benign |
Het |
| Garin5b |
A |
G |
7: 4,761,449 (GRCm39) |
V421A |
probably damaging |
Het |
| Gchfr |
C |
T |
2: 119,000,187 (GRCm39) |
H23Y |
probably benign |
Het |
| Helz2 |
T |
A |
2: 180,871,919 (GRCm39) |
M2617L |
probably damaging |
Het |
| Ighv5-9-1 |
A |
T |
12: 113,699,745 (GRCm39) |
Y122* |
probably null |
Het |
| Lrrtm3 |
A |
G |
10: 63,766,045 (GRCm39) |
I514T |
probably benign |
Het |
| Nolc1 |
GAGCAGCAGCAGCAGCAGCAGCAGCAGC |
GAGCAGCAGCAGCAGCAGCAGCAGC |
19: 46,071,594 (GRCm39) |
|
probably benign |
Het |
| Obox5 |
A |
T |
7: 15,491,522 (GRCm39) |
I21F |
probably benign |
Het |
| Or51f1 |
C |
T |
7: 102,506,414 (GRCm39) |
G25D |
possibly damaging |
Het |
| P2rx2 |
T |
C |
5: 110,488,427 (GRCm39) |
I376V |
possibly damaging |
Het |
| Poli |
A |
G |
18: 70,642,356 (GRCm39) |
S529P |
probably benign |
Het |
| Ruvbl1 |
T |
C |
6: 88,450,078 (GRCm39) |
I83T |
possibly damaging |
Het |
| Rwdd2a |
T |
C |
9: 86,456,483 (GRCm39) |
S220P |
probably damaging |
Het |
| Serpinb9h |
T |
A |
13: 33,588,301 (GRCm39) |
D295E |
probably benign |
Het |
| Sf3b3 |
A |
T |
8: 111,564,847 (GRCm39) |
D320E |
probably benign |
Het |
| Slc6a21 |
C |
A |
7: 44,937,853 (GRCm39) |
L390I |
possibly damaging |
Het |
| Smarcd1 |
T |
G |
15: 99,601,176 (GRCm39) |
|
probably null |
Het |
| Sp1 |
T |
A |
15: 102,317,365 (GRCm39) |
S295T |
probably benign |
Het |
| Tas2r104 |
T |
A |
6: 131,662,094 (GRCm39) |
H205L |
probably damaging |
Het |
| Tmem69 |
C |
G |
4: 116,410,388 (GRCm39) |
G194A |
probably damaging |
Het |
| Unc5c |
G |
T |
3: 141,509,548 (GRCm39) |
C676F |
probably damaging |
Het |
| Unkl |
A |
G |
17: 25,424,687 (GRCm39) |
N52S |
probably benign |
Het |
| Vmn1r233 |
T |
C |
17: 21,214,839 (GRCm39) |
Y37C |
possibly damaging |
Het |
| Vmn1r57 |
A |
G |
7: 5,223,898 (GRCm39) |
N141S |
probably damaging |
Het |
| Vmn2r50 |
T |
C |
7: 9,771,253 (GRCm39) |
Y816C |
probably damaging |
Het |
| Vmn2r51 |
T |
A |
7: 9,826,128 (GRCm39) |
S540C |
probably damaging |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAACAGGGTGAGGGCTTTGC -3'
(R):5'- ACCACTGGGATCTCCATCAG -3'
Sequencing Primer
(F):5'- CTGTCTATGCAGCCAAAAGC -3'
(R):5'- ACTGGGATCTCCATCAGCACTG -3'
|
| Posted On |
2016-10-24 |
Incidental Mutation