Incidental Mutation 'R2922:Dmwd'
ID |
255572 |
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 |
040507-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.181)
|
Stock # |
R2922 (G1)
|
Quality Score |
84 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
18810152-18816701 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 18810270 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 26
(F26L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000104119
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032570]
[ENSMUST00000035521]
[ENSMUST00000076887]
[ENSMUST00000108479]
|
AlphaFold |
Q08274 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000032570
AA Change: F26L
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000032570 Gene: ENSMUSG00000030410 AA Change: F26L
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: ENSMUST00000035521
|
SMART Domains |
Protein: ENSMUSP00000046526 Gene: ENSMUSG00000040866
Domain | Start | End | E-Value | Type |
low complexity region
|
42 |
56 |
N/A |
INTRINSIC |
Pfam:Radial_spoke
|
191 |
685 |
2.3e-200 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000076887
|
SMART Domains |
Protein: ENSMUSP00000076153 Gene: ENSMUSG00000040866
Domain | Start | End | E-Value | Type |
low complexity region
|
42 |
56 |
N/A |
INTRINSIC |
Pfam:Radial_spoke
|
188 |
287 |
3e-18 |
PFAM |
Pfam:Radial_spoke
|
285 |
433 |
4.6e-53 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000108479
AA Change: F26L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000104119 Gene: ENSMUSG00000030410 AA Change: F26L
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 |
noncoding transcript
Transcript: ENSMUST00000138997
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146429
|
Meta Mutation Damage Score |
0.3888 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
Validation Efficiency |
100% (43/43) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts3 |
T |
C |
5: 90,009,393 (GRCm39) |
D90G |
possibly damaging |
Het |
Atp6v0a2 |
C |
T |
5: 124,794,981 (GRCm39) |
T656M |
possibly damaging |
Het |
Baz2a |
AGCGGCGGTACTTGCGGG |
AG |
10: 127,960,946 (GRCm39) |
|
probably null |
Het |
Bsn |
C |
T |
9: 107,985,385 (GRCm39) |
V2890M |
unknown |
Het |
Bsn |
T |
C |
9: 107,992,668 (GRCm39) |
E1028G |
probably damaging |
Het |
Ccdc116 |
T |
C |
16: 16,960,307 (GRCm39) |
H170R |
probably benign |
Het |
Cdk11b |
CAGAAGAAG |
CAGAAG |
4: 155,725,201 (GRCm39) |
|
probably benign |
Het |
Cemip2 |
A |
G |
19: 21,795,303 (GRCm39) |
D732G |
possibly damaging |
Het |
Clpb |
A |
G |
7: 101,372,035 (GRCm39) |
D257G |
probably benign |
Het |
Crygs |
C |
T |
16: 22,624,301 (GRCm39) |
G102D |
possibly damaging |
Het |
Dlgap5 |
A |
G |
14: 47,627,898 (GRCm39) |
|
probably null |
Het |
Eif5b |
T |
C |
1: 38,057,100 (GRCm39) |
|
probably benign |
Het |
Flii |
A |
G |
11: 60,609,742 (GRCm39) |
Y622H |
probably damaging |
Het |
Gbp7 |
A |
T |
3: 142,240,333 (GRCm39) |
E17V |
probably benign |
Het |
Ghrh |
T |
C |
2: 157,173,797 (GRCm39) |
|
probably null |
Het |
Gm20939 |
T |
A |
17: 95,184,721 (GRCm39) |
H456Q |
probably damaging |
Het |
Golga4 |
T |
A |
9: 118,388,411 (GRCm39) |
S1844R |
possibly damaging |
Het |
Hgd |
T |
C |
16: 37,439,330 (GRCm39) |
F213L |
probably damaging |
Het |
Hoxb1 |
T |
C |
11: 96,257,119 (GRCm39) |
L156P |
probably benign |
Het |
Itga11 |
A |
G |
9: 62,675,912 (GRCm39) |
|
probably benign |
Het |
Kcnn3 |
T |
C |
3: 89,428,329 (GRCm39) |
V185A |
probably damaging |
Het |
Lrriq1 |
T |
C |
10: 103,050,536 (GRCm39) |
T739A |
probably benign |
Het |
Mib1 |
C |
T |
18: 10,760,831 (GRCm39) |
Q374* |
probably null |
Het |
Myh9 |
A |
G |
15: 77,697,384 (GRCm39) |
L10P |
probably damaging |
Het |
Ncor2 |
A |
G |
5: 125,132,855 (GRCm39) |
F44S |
probably damaging |
Het |
Nr3c1 |
C |
A |
18: 39,620,156 (GRCm39) |
A44S |
possibly damaging |
Het |
Or10n1 |
G |
A |
9: 39,525,060 (GRCm39) |
V66I |
probably benign |
Het |
Or51a43 |
A |
G |
7: 103,717,794 (GRCm39) |
V148A |
probably benign |
Het |
Ovch2 |
A |
G |
7: 107,389,596 (GRCm39) |
L317P |
possibly damaging |
Het |
Pcolce2 |
T |
A |
9: 95,576,767 (GRCm39) |
L346Q |
probably damaging |
Het |
Rdm1 |
T |
A |
11: 101,521,716 (GRCm39) |
L157H |
possibly damaging |
Het |
Rptn |
A |
G |
3: 93,306,015 (GRCm39) |
Y1116C |
possibly damaging |
Het |
Scn7a |
A |
G |
2: 66,530,551 (GRCm39) |
|
probably benign |
Het |
Slc24a2 |
A |
G |
4: 86,909,591 (GRCm39) |
V660A |
possibly damaging |
Het |
Tet3 |
A |
G |
6: 83,345,494 (GRCm39) |
S1648P |
probably damaging |
Het |
Tmem198b |
G |
A |
10: 128,638,062 (GRCm39) |
T167I |
probably damaging |
Het |
Tmx1 |
T |
A |
12: 70,512,895 (GRCm39) |
C268S |
probably benign |
Het |
Ubr4 |
A |
G |
4: 139,206,811 (GRCm39) |
N4886S |
possibly damaging |
Het |
Usp47 |
A |
G |
7: 111,692,405 (GRCm39) |
S956G |
probably damaging |
Het |
Vmn2r60 |
T |
A |
7: 41,790,459 (GRCm39) |
V482E |
probably damaging |
Het |
Zfhx4 |
C |
T |
3: 5,468,724 (GRCm39) |
P2986S |
probably damaging |
Het |
Zfp507 |
T |
C |
7: 35,494,224 (GRCm39) |
E273G |
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 |
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'- TCTGGGTGCCAATCGTAGAG -3'
(R):5'- TAGAAATAAAGCTCCCGGCC -3'
Sequencing Primer
(F):5'- AATCGTAGAGGCGTCACCC -3'
(R):5'- TTGAAGCAGACGCGGTCTC -3'
|
Posted On |
2014-12-29 |