Incidental Mutation 'R5265:Dmwd'
| ID |
401651 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dmwd
|
| Ensembl Gene |
ENSMUSG00000030410 |
| Gene Name |
dystrophia myotonica-containing WD repeat motif |
| Synonyms |
Dm9, 59, DMR-N9 |
| MMRRC Submission |
042833-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.178)
|
| Stock # |
R5265 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
19076227-19082776 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 19080281 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 285
(N285K)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000032570
AA Change: N285K
PolyPhen 2
Score 0.842 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000032570
Gene: ENSMUSG00000030410
AA Change: N285K
| 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 |
possibly damaging
Transcript: ENSMUST00000108479
AA Change: N285K
PolyPhen 2
Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000104119
Gene: ENSMUSG00000030410
AA Change: N285K
| 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 |
0.1795 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.7%
|
| Validation Efficiency |
100% (59/59) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700017B05Rik |
A |
G |
9: 57,258,894 (GRCm38) |
W66R |
probably damaging |
Het |
| Adamts3 |
A |
G |
5: 89,861,552 (GRCm38) |
V84A |
possibly damaging |
Het |
| Caap1 |
C |
A |
4: 94,501,228 (GRCm38) |
E290* |
probably null |
Het |
| Cant1 |
G |
A |
11: 118,408,050 (GRCm38) |
R296C |
probably damaging |
Het |
| Ccdc114 |
T |
A |
7: 45,947,435 (GRCm38) |
D395E |
probably damaging |
Het |
| Cdh5 |
A |
T |
8: 104,142,739 (GRCm38) |
H699L |
probably benign |
Het |
| Cfdp1 |
T |
C |
8: 111,830,985 (GRCm38) |
T175A |
probably benign |
Het |
| Col4a4 |
C |
T |
1: 82,493,591 (GRCm38) |
G681E |
unknown |
Het |
| Comtd1 |
G |
A |
14: 21,848,793 (GRCm38) |
T27I |
probably benign |
Het |
| Copg1 |
T |
A |
6: 87,892,270 (GRCm38) |
V155D |
probably damaging |
Het |
| Dag1 |
A |
G |
9: 108,207,699 (GRCm38) |
Y748H |
possibly damaging |
Het |
| Dsp |
A |
G |
13: 38,195,183 (GRCm38) |
E1968G |
possibly damaging |
Het |
| Ednra |
A |
G |
8: 77,667,375 (GRCm38) |
I364T |
probably damaging |
Het |
| Elovl3 |
C |
A |
19: 46,134,681 (GRCm38) |
T232K |
probably damaging |
Het |
| Ercc3 |
T |
A |
18: 32,254,243 (GRCm38) |
I503N |
probably damaging |
Het |
| Ercc6 |
C |
A |
14: 32,569,623 (GRCm38) |
A1008D |
probably benign |
Het |
| Gm10563 |
TTTC |
TTTCATTC |
4: 155,614,496 (GRCm38) |
|
probably null |
Het |
| H2-DMb2 |
G |
T |
17: 34,148,562 (GRCm38) |
V117F |
probably damaging |
Het |
| Helt |
A |
T |
8: 46,292,433 (GRCm38) |
W138R |
probably damaging |
Het |
| Itga11 |
A |
T |
9: 62,737,412 (GRCm38) |
H215L |
probably benign |
Het |
| Kcnn1 |
T |
A |
8: 70,854,653 (GRCm38) |
I156F |
probably benign |
Het |
| Kdm1b |
A |
G |
13: 47,062,969 (GRCm38) |
N272D |
probably benign |
Het |
| Kdm2b |
T |
C |
5: 122,878,588 (GRCm38) |
T1161A |
probably damaging |
Het |
| Lin54 |
A |
G |
5: 100,485,519 (GRCm38) |
L102P |
probably damaging |
Het |
| Mlh1 |
A |
C |
9: 111,271,523 (GRCm38) |
M1R |
probably null |
Het |
| Naip2 |
G |
A |
13: 100,152,560 (GRCm38) |
L1165F |
probably damaging |
Het |
| Nfkbiz |
A |
G |
16: 55,819,641 (GRCm38) |
S118P |
probably damaging |
Het |
| Nkx3-2 |
T |
A |
5: 41,761,848 (GRCm38) |
M266L |
probably benign |
Het |
| Npr1 |
T |
C |
3: 90,457,002 (GRCm38) |
E771G |
probably benign |
Het |
| Obox8 |
C |
T |
7: 14,332,029 (GRCm38) |
R188H |
probably benign |
Het |
| Olfr187 |
A |
T |
16: 59,036,143 (GRCm38) |
V198D |
possibly damaging |
Het |
| Olfr497 |
T |
A |
7: 108,423,402 (GRCm38) |
V277E |
possibly damaging |
Het |
| Palm3 |
T |
C |
8: 84,021,530 (GRCm38) |
|
probably null |
Het |
| Palmd |
A |
T |
3: 116,923,849 (GRCm38) |
V333D |
possibly damaging |
Het |
| Pikfyve |
A |
G |
1: 65,267,829 (GRCm38) |
E1747G |
possibly damaging |
Het |
| Polr3a |
T |
C |
14: 24,454,941 (GRCm38) |
I1084V |
possibly damaging |
Het |
| Ranbp3l |
T |
A |
15: 9,007,203 (GRCm38) |
F127I |
probably benign |
Het |
| Rsl1d1 |
A |
G |
16: 11,201,384 (GRCm38) |
F97L |
possibly damaging |
Het |
| Scaper |
A |
G |
9: 55,864,546 (GRCm38) |
V362A |
probably benign |
Het |
| Scg5 |
A |
T |
2: 113,776,865 (GRCm38) |
L192* |
probably null |
Het |
| Slc34a2 |
T |
C |
5: 53,061,434 (GRCm38) |
I198T |
probably damaging |
Het |
| Slc45a3 |
T |
A |
1: 131,978,194 (GRCm38) |
D318E |
possibly damaging |
Het |
| Sorl1 |
A |
G |
9: 42,106,516 (GRCm38) |
M105T |
possibly damaging |
Het |
| St3gal5 |
T |
A |
6: 72,149,131 (GRCm38) |
I320N |
probably damaging |
Het |
| Stx17 |
A |
G |
4: 48,183,470 (GRCm38) |
|
probably benign |
Het |
| Syt5 |
C |
T |
7: 4,541,075 (GRCm38) |
|
probably null |
Het |
| Thrap3 |
A |
G |
4: 126,167,640 (GRCm38) |
S774P |
probably damaging |
Het |
| Tnc |
A |
T |
4: 63,993,206 (GRCm38) |
M1376K |
probably benign |
Het |
| Tnks1bp1 |
T |
A |
2: 85,062,754 (GRCm38) |
D1008E |
probably benign |
Het |
| Trav7-1 |
G |
T |
14: 52,655,304 (GRCm38) |
A105S |
probably damaging |
Het |
| Vmn1r28 |
T |
A |
6: 58,265,964 (GRCm38) |
V264D |
probably damaging |
Het |
| Vmn1r44 |
T |
C |
6: 89,893,839 (GRCm38) |
V46A |
probably benign |
Het |
| Vmn2r10 |
A |
G |
5: 108,995,720 (GRCm38) |
I788T |
probably damaging |
Het |
| Vmn2r78 |
T |
A |
7: 86,920,124 (GRCm38) |
I75N |
probably damaging |
Het |
| Zfp821 |
T |
C |
8: 109,724,359 (GRCm38) |
M328T |
probably damaging |
Het |
| Zfp995 |
G |
A |
17: 21,880,623 (GRCm38) |
P210L |
possibly damaging |
Het |
|
| Other mutations in Dmwd |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01620:Dmwd
|
APN |
7 |
19,081,234 (GRCm38) |
splice site |
probably null |
|
|
IGL01668:Dmwd
|
APN |
7 |
19,081,155 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02705:Dmwd
|
APN |
7 |
19,080,844 (GRCm38) |
missense |
probably benign |
0.02 |
|
IGL03036:Dmwd
|
APN |
7 |
19,081,129 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03133:Dmwd
|
APN |
7 |
19,076,637 (GRCm38) |
missense |
probably damaging |
1.00 |
|
PIT4305001:Dmwd
|
UTSW |
7 |
19,080,718 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0172:Dmwd
|
UTSW |
7 |
19,080,342 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1619:Dmwd
|
UTSW |
7 |
19,081,034 (GRCm38) |
unclassified |
probably benign |
|
|
R2055:Dmwd
|
UTSW |
7 |
19,076,685 (GRCm38) |
missense |
probably benign |
0.34 |
|
R2058:Dmwd
|
UTSW |
7 |
19,080,727 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2403:Dmwd
|
UTSW |
7 |
19,081,159 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R2922:Dmwd
|
UTSW |
7 |
19,076,345 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3122:Dmwd
|
UTSW |
7 |
19,080,695 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4876:Dmwd
|
UTSW |
7 |
19,080,547 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4937:Dmwd
|
UTSW |
7 |
19,081,303 (GRCm38) |
critical splice donor site |
probably null |
|
|
R5018:Dmwd
|
UTSW |
7 |
19,078,119 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5034:Dmwd
|
UTSW |
7 |
19,080,294 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5165:Dmwd
|
UTSW |
7 |
19,078,035 (GRCm38) |
intron |
probably benign |
|
|
R5559:Dmwd
|
UTSW |
7 |
19,080,438 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6695:Dmwd
|
UTSW |
7 |
19,080,727 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7106:Dmwd
|
UTSW |
7 |
19,080,529 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7208:Dmwd
|
UTSW |
7 |
19,080,309 (GRCm38) |
missense |
probably benign |
0.05 |
|
R7681:Dmwd
|
UTSW |
7 |
19,081,082 (GRCm38) |
missense |
probably benign |
0.23 |
|
R7683:Dmwd
|
UTSW |
7 |
19,080,735 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7760:Dmwd
|
UTSW |
7 |
19,080,735 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7763:Dmwd
|
UTSW |
7 |
19,080,340 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7814:Dmwd
|
UTSW |
7 |
19,080,843 (GRCm38) |
missense |
probably benign |
0.02 |
|
R8000:Dmwd
|
UTSW |
7 |
19,080,735 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8697:Dmwd
|
UTSW |
7 |
19,078,188 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8868:Dmwd
|
UTSW |
7 |
19,080,769 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8971:Dmwd
|
UTSW |
7 |
19,081,048 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9089:Dmwd
|
UTSW |
7 |
19,078,055 (GRCm38) |
missense |
probably damaging |
0.98 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTGAAGTGGCTGCCTGAGTC -3'
(R):5'- CACAGTGACTAAGTCATCTTCCC -3'
Sequencing Primer
(F):5'- CCTGAGTCAGAGAGTCTGTTCC -3'
(R):5'- CCTCCTGTCACCACGTAGCG -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation