Incidental Mutation 'R0172:Dmwd'
| ID |
24273 |
| 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 |
038444-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.181)
|
| Stock # |
R0172 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
(trace)
|
| Chromosome |
7 |
| Chromosomal Location |
18810152-18816701 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 18814267 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 306
(R306C)
|
| 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: R306C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000032570
Gene: ENSMUSG00000030410
AA Change: R306C
| 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: R306C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000104119
Gene: ENSMUSG00000030410
AA Change: R306C
| 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 |
|
| Meta Mutation Damage Score |
0.9091 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.4%
- 20x: 93.4%
|
| Validation Efficiency |
82% (40/49) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A430033K04Rik |
T |
A |
5: 138,645,578 (GRCm39) |
C488S |
probably damaging |
Het |
| Abca12 |
T |
G |
1: 71,318,561 (GRCm39) |
D1814A |
probably damaging |
Het |
| Acp7 |
T |
C |
7: 28,314,549 (GRCm39) |
N272S |
possibly damaging |
Het |
| Ank3 |
T |
C |
10: 69,811,888 (GRCm39) |
V1145A |
probably damaging |
Het |
| Ap1m2 |
A |
T |
9: 21,209,628 (GRCm39) |
|
probably null |
Het |
| Atp12a |
T |
C |
14: 56,610,301 (GRCm39) |
V224A |
probably damaging |
Het |
| Cdh23 |
T |
C |
10: 60,155,411 (GRCm39) |
E2253G |
probably damaging |
Het |
| Cep350 |
T |
C |
1: 155,829,193 (GRCm39) |
N237S |
probably benign |
Het |
| Crispld2 |
T |
C |
8: 120,752,810 (GRCm39) |
V286A |
possibly damaging |
Het |
| Cyp2c65 |
G |
T |
19: 39,076,100 (GRCm39) |
V351L |
possibly damaging |
Het |
| D130043K22Rik |
T |
C |
13: 25,056,389 (GRCm39) |
F574L |
probably benign |
Het |
| Dag1 |
G |
A |
9: 108,086,031 (GRCm39) |
T370M |
possibly damaging |
Het |
| Dnah11 |
T |
C |
12: 117,951,188 (GRCm39) |
Y3040C |
probably damaging |
Het |
| Dst |
C |
A |
1: 34,309,935 (GRCm39) |
H1536Q |
probably damaging |
Het |
| Eif3j1 |
A |
G |
2: 121,882,246 (GRCm39) |
I202V |
probably benign |
Het |
| Epg5 |
T |
A |
18: 78,070,574 (GRCm39) |
V2283D |
probably benign |
Het |
| Evi5 |
T |
C |
5: 107,938,328 (GRCm39) |
N625S |
probably benign |
Het |
| Exosc10 |
T |
C |
4: 148,649,814 (GRCm39) |
S415P |
probably benign |
Het |
| F830016B08Rik |
G |
T |
18: 60,433,036 (GRCm39) |
D40Y |
possibly damaging |
Het |
| Fam118a |
A |
G |
15: 84,929,951 (GRCm39) |
I60V |
probably benign |
Het |
| Fam186a |
A |
T |
15: 99,852,768 (GRCm39) |
M150K |
unknown |
Het |
| Fam193a |
C |
T |
5: 34,622,957 (GRCm39) |
R1182W |
probably damaging |
Het |
| Fastkd2 |
T |
A |
1: 63,771,187 (GRCm39) |
I181K |
possibly damaging |
Het |
| Hip1r |
T |
A |
5: 124,135,003 (GRCm39) |
Y380N |
possibly damaging |
Het |
| Hivep2 |
C |
A |
10: 14,015,218 (GRCm39) |
P1795Q |
probably damaging |
Het |
| Hnrnpab |
T |
C |
11: 51,493,494 (GRCm39) |
E238G |
probably damaging |
Het |
| Kcnma1 |
C |
T |
14: 23,853,234 (GRCm39) |
A172T |
probably damaging |
Het |
| Lipg |
G |
T |
18: 75,081,245 (GRCm39) |
H279N |
possibly damaging |
Het |
| Lrrc9 |
A |
G |
12: 72,510,260 (GRCm39) |
D453G |
possibly damaging |
Het |
| Map1s |
T |
A |
8: 71,367,612 (GRCm39) |
M839K |
probably benign |
Het |
| Miox |
C |
T |
15: 89,220,477 (GRCm39) |
L189F |
possibly damaging |
Het |
| Myo1h |
T |
A |
5: 114,467,225 (GRCm39) |
|
probably null |
Het |
| Ncoa6 |
TGC |
TGCGC |
2: 155,250,211 (GRCm39) |
|
probably null |
Het |
| Nrn1 |
T |
C |
13: 36,914,544 (GRCm39) |
R19G |
probably benign |
Het |
| Nwd2 |
T |
C |
5: 63,963,712 (GRCm39) |
Y1099H |
probably benign |
Het |
| Nxpe2 |
G |
A |
9: 48,231,209 (GRCm39) |
R387C |
possibly damaging |
Het |
| Or2a25 |
T |
C |
6: 42,888,913 (GRCm39) |
V152A |
probably benign |
Het |
| Pappa2 |
C |
T |
1: 158,682,419 (GRCm39) |
|
probably null |
Het |
| Pcdhb13 |
A |
T |
18: 37,575,990 (GRCm39) |
I123L |
probably benign |
Het |
| Plcg2 |
A |
G |
8: 118,306,521 (GRCm39) |
T292A |
probably benign |
Het |
| Pnpla8 |
T |
A |
12: 44,358,111 (GRCm39) |
V469D |
probably damaging |
Het |
| Pop4 |
T |
C |
7: 37,962,679 (GRCm39) |
Y195C |
probably damaging |
Het |
| Rbsn |
A |
T |
6: 92,188,588 (GRCm39) |
D42E |
probably damaging |
Het |
| Sclt1 |
A |
T |
3: 41,672,222 (GRCm39) |
I123N |
possibly damaging |
Het |
| Slc22a27 |
C |
A |
19: 7,843,201 (GRCm39) |
G393* |
probably null |
Het |
| Smu1 |
C |
T |
4: 40,738,439 (GRCm39) |
V432I |
probably benign |
Het |
| Sohlh1 |
A |
G |
2: 25,736,215 (GRCm39) |
|
probably null |
Het |
| Spta1 |
T |
A |
1: 174,058,352 (GRCm39) |
I1940K |
probably damaging |
Het |
| Sufu |
G |
T |
19: 46,385,563 (GRCm39) |
V8F |
possibly damaging |
Het |
| Tmem144 |
G |
A |
3: 79,746,580 (GRCm39) |
|
probably benign |
Het |
| Tmem184b |
A |
G |
15: 79,262,740 (GRCm39) |
V39A |
possibly damaging |
Het |
| Tmem236 |
A |
G |
2: 14,223,694 (GRCm39) |
D161G |
probably benign |
Het |
| Ufl1 |
T |
C |
4: 25,280,685 (GRCm39) |
K54R |
probably benign |
Het |
| Vmn1r28 |
G |
A |
6: 58,242,702 (GRCm39) |
A182T |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCCTGAGTCAGAGAGTCTGTTCC -3'
(R):5'- TGAGCCAAAGCGGTACGTGATG -3'
Sequencing Primer
(F):5'- TGTACCTCTACAACGTCAGTCAC -3'
(R):5'- TCCATCAGCACTGGCTGAC -3'
|
| Posted On |
2013-04-16 |
Incidental Mutation