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, DMR-N9, 59 |
MMRRC Submission |
042833-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.181)
|
Stock # |
R5265 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
18810152-18816701 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 18814206 bp (GRCm39)
|
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: 57,166,177 (GRCm39) |
W66R |
probably damaging |
Het |
Adamts3 |
A |
G |
5: 90,009,411 (GRCm39) |
V84A |
possibly damaging |
Het |
Caap1 |
C |
A |
4: 94,389,465 (GRCm39) |
E290* |
probably null |
Het |
Cant1 |
G |
A |
11: 118,298,876 (GRCm39) |
R296C |
probably damaging |
Het |
Cdh5 |
A |
T |
8: 104,869,371 (GRCm39) |
H699L |
probably benign |
Het |
Cfdp1 |
T |
C |
8: 112,557,617 (GRCm39) |
T175A |
probably benign |
Het |
Col4a4 |
C |
T |
1: 82,471,312 (GRCm39) |
G681E |
unknown |
Het |
Comtd1 |
G |
A |
14: 21,898,861 (GRCm39) |
T27I |
probably benign |
Het |
Copg1 |
T |
A |
6: 87,869,252 (GRCm39) |
V155D |
probably damaging |
Het |
Dag1 |
A |
G |
9: 108,084,898 (GRCm39) |
Y748H |
possibly damaging |
Het |
Dsp |
A |
G |
13: 38,379,159 (GRCm39) |
E1968G |
possibly damaging |
Het |
Ednra |
A |
G |
8: 78,394,004 (GRCm39) |
I364T |
probably damaging |
Het |
Elovl3 |
C |
A |
19: 46,123,120 (GRCm39) |
T232K |
probably damaging |
Het |
Ercc3 |
T |
A |
18: 32,387,296 (GRCm39) |
I503N |
probably damaging |
Het |
Ercc6 |
C |
A |
14: 32,291,580 (GRCm39) |
A1008D |
probably benign |
Het |
Gm10563 |
TTTC |
TTTCATTC |
4: 155,698,953 (GRCm39) |
|
probably null |
Het |
H2-DMb2 |
G |
T |
17: 34,367,536 (GRCm39) |
V117F |
probably damaging |
Het |
Helt |
A |
T |
8: 46,745,470 (GRCm39) |
W138R |
probably damaging |
Het |
Itga11 |
A |
T |
9: 62,644,694 (GRCm39) |
H215L |
probably benign |
Het |
Kcnn1 |
T |
A |
8: 71,307,297 (GRCm39) |
I156F |
probably benign |
Het |
Kdm1b |
A |
G |
13: 47,216,445 (GRCm39) |
N272D |
probably benign |
Het |
Kdm2b |
T |
C |
5: 123,016,651 (GRCm39) |
T1161A |
probably damaging |
Het |
Lin54 |
A |
G |
5: 100,633,378 (GRCm39) |
L102P |
probably damaging |
Het |
Mlh1 |
A |
C |
9: 111,100,591 (GRCm39) |
M1R |
probably null |
Het |
Naip2 |
G |
A |
13: 100,289,068 (GRCm39) |
L1165F |
probably damaging |
Het |
Nfkbiz |
A |
G |
16: 55,640,004 (GRCm39) |
S118P |
probably damaging |
Het |
Nkx3-2 |
T |
A |
5: 41,919,191 (GRCm39) |
M266L |
probably benign |
Het |
Npr1 |
T |
C |
3: 90,364,309 (GRCm39) |
E771G |
probably benign |
Het |
Obox8 |
C |
T |
7: 14,065,954 (GRCm39) |
R188H |
probably benign |
Het |
Odad1 |
T |
A |
7: 45,596,859 (GRCm39) |
D395E |
probably damaging |
Het |
Or5h19 |
A |
T |
16: 58,856,506 (GRCm39) |
V198D |
possibly damaging |
Het |
Or5p72 |
T |
A |
7: 108,022,609 (GRCm39) |
V277E |
possibly damaging |
Het |
Palm3 |
T |
C |
8: 84,748,159 (GRCm39) |
|
probably null |
Het |
Palmd |
A |
T |
3: 116,717,498 (GRCm39) |
V333D |
possibly damaging |
Het |
Pikfyve |
A |
G |
1: 65,306,988 (GRCm39) |
E1747G |
possibly damaging |
Het |
Polr3a |
T |
C |
14: 24,505,009 (GRCm39) |
I1084V |
possibly damaging |
Het |
Ranbp3l |
T |
A |
15: 9,037,077 (GRCm39) |
F127I |
probably benign |
Het |
Rsl1d1 |
A |
G |
16: 11,019,248 (GRCm39) |
F97L |
possibly damaging |
Het |
Scaper |
A |
G |
9: 55,771,830 (GRCm39) |
V362A |
probably benign |
Het |
Scg5 |
A |
T |
2: 113,607,210 (GRCm39) |
L192* |
probably null |
Het |
Slc34a2 |
T |
C |
5: 53,218,776 (GRCm39) |
I198T |
probably damaging |
Het |
Slc45a3 |
T |
A |
1: 131,905,932 (GRCm39) |
D318E |
possibly damaging |
Het |
Sorl1 |
A |
G |
9: 42,017,812 (GRCm39) |
M105T |
possibly damaging |
Het |
St3gal5 |
T |
A |
6: 72,126,115 (GRCm39) |
I320N |
probably damaging |
Het |
Stx17 |
A |
G |
4: 48,183,470 (GRCm39) |
|
probably benign |
Het |
Syt5 |
C |
T |
7: 4,544,074 (GRCm39) |
|
probably null |
Het |
Thrap3 |
A |
G |
4: 126,061,433 (GRCm39) |
S774P |
probably damaging |
Het |
Tnc |
A |
T |
4: 63,911,443 (GRCm39) |
M1376K |
probably benign |
Het |
Tnks1bp1 |
T |
A |
2: 84,893,098 (GRCm39) |
D1008E |
probably benign |
Het |
Trav7-1 |
G |
T |
14: 52,892,761 (GRCm39) |
A105S |
probably damaging |
Het |
Vmn1r28 |
T |
A |
6: 58,242,949 (GRCm39) |
V264D |
probably damaging |
Het |
Vmn1r44 |
T |
C |
6: 89,870,821 (GRCm39) |
V46A |
probably benign |
Het |
Vmn2r10 |
A |
G |
5: 109,143,586 (GRCm39) |
I788T |
probably damaging |
Het |
Vmn2r78 |
T |
A |
7: 86,569,332 (GRCm39) |
I75N |
probably damaging |
Het |
Zfp821 |
T |
C |
8: 110,450,991 (GRCm39) |
M328T |
probably damaging |
Het |
Zfp995 |
G |
A |
17: 22,099,604 (GRCm39) |
P210L |
possibly 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 |
|
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'- TTGAAGTGGCTGCCTGAGTC -3'
(R):5'- CACAGTGACTAAGTCATCTTCCC -3'
Sequencing Primer
(F):5'- CCTGAGTCAGAGAGTCTGTTCC -3'
(R):5'- CCTCCTGTCACCACGTAGCG -3'
|
Posted On |
2016-07-06 |