Incidental Mutation 'R8473:Wdr20rt'
| ID |
657135 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Wdr20rt
|
| Ensembl Gene |
ENSMUSG00000035560 |
| Gene Name |
WD repeat domain 20, retrogene |
| Synonyms |
4921538B03Rik, Wdr20b, 4930427E19Rik |
| MMRRC Submission |
067917-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.403)
|
| Stock # |
R8473 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
65272291-65275228 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 65273380 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 180
(D180G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152487
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046331]
[ENSMUST00000221658]
[ENSMUST00000221980]
[ENSMUST00000222822]
|
| AlphaFold |
Q9D5R2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000046331
AA Change: D281G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000036682
Gene: ENSMUSG00000035560
AA Change: D281G
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
140 |
178 |
1.33e1 |
SMART |
|
WD40
|
205 |
246 |
1.38e-2 |
SMART |
|
WD40
|
249 |
288 |
1.57e-6 |
SMART |
|
WD40
|
291 |
380 |
8.29e-1 |
SMART |
|
low complexity region
|
465 |
478 |
N/A |
INTRINSIC |
|
Blast:WD40
|
480 |
557 |
1e-29 |
BLAST |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000221658
AA Change: D281G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000221980
AA Change: D108G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000222822
AA Change: D180G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Meta Mutation Damage Score |
0.9641 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
100% (33/33) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930583I09Rik |
T |
C |
17: 65,141,513 (GRCm39) |
D30G |
unknown |
Het |
| Acad12 |
T |
C |
5: 121,745,538 (GRCm39) |
D251G |
probably damaging |
Het |
| Adamts15 |
T |
A |
9: 30,816,085 (GRCm39) |
T625S |
probably damaging |
Het |
| Atg13 |
A |
T |
2: 91,518,993 (GRCm39) |
L151M |
probably damaging |
Het |
| Atp5f1a |
T |
C |
18: 77,867,625 (GRCm39) |
F250L |
probably damaging |
Het |
| Blnk |
T |
C |
19: 40,940,854 (GRCm39) |
E183G |
possibly damaging |
Het |
| Csf3 |
T |
C |
11: 98,592,928 (GRCm39) |
L97P |
probably damaging |
Het |
| Derl2 |
A |
G |
11: 70,910,035 (GRCm39) |
Y10H |
probably damaging |
Het |
| Dgkb |
A |
G |
12: 38,234,939 (GRCm39) |
N435D |
probably damaging |
Het |
| Dpy19l2 |
C |
A |
9: 24,492,526 (GRCm39) |
V691L |
probably benign |
Het |
| Exoc5 |
T |
C |
14: 49,256,860 (GRCm39) |
S509G |
probably null |
Het |
| Fancg |
A |
G |
4: 43,004,963 (GRCm39) |
I410T |
probably damaging |
Het |
| Fsip2 |
G |
A |
2: 82,777,336 (GRCm39) |
G121D |
probably damaging |
Het |
| Gfm1 |
T |
C |
3: 67,361,051 (GRCm39) |
S458P |
possibly damaging |
Het |
| Gm6882 |
A |
T |
7: 21,161,440 (GRCm39) |
Y143N |
probably damaging |
Het |
| Grm5 |
T |
A |
7: 87,252,278 (GRCm39) |
M176K |
probably damaging |
Het |
| Herc6 |
T |
A |
6: 57,624,099 (GRCm39) |
V623D |
probably damaging |
Het |
| Hmcn1 |
G |
T |
1: 150,479,551 (GRCm39) |
P4638T |
possibly damaging |
Het |
| Il27ra |
A |
G |
8: 84,768,735 (GRCm39) |
Y62H |
probably benign |
Het |
| Kcnh8 |
A |
T |
17: 53,285,320 (GRCm39) |
S1097C |
probably benign |
Het |
| Kif19a |
T |
G |
11: 114,678,377 (GRCm39) |
S677A |
probably damaging |
Het |
| Lrrc37 |
T |
C |
11: 103,434,266 (GRCm39) |
T792A |
unknown |
Het |
| Or8d4 |
T |
C |
9: 40,038,506 (GRCm39) |
I250M |
probably benign |
Het |
| Pcdhgb7 |
T |
A |
18: 37,886,852 (GRCm39) |
V674D |
probably benign |
Het |
| Pik3r6 |
A |
G |
11: 68,417,207 (GRCm39) |
S50G |
probably benign |
Het |
| Ptpn12 |
T |
C |
5: 21,203,357 (GRCm39) |
T474A |
probably benign |
Het |
| Rbbp6 |
T |
C |
7: 122,600,421 (GRCm39) |
|
probably benign |
Het |
| Scaper |
T |
C |
9: 55,458,131 (GRCm39) |
Y880C |
probably damaging |
Het |
| Smc5 |
A |
T |
19: 23,221,446 (GRCm39) |
V361D |
probably benign |
Het |
| Stag1 |
T |
A |
9: 100,762,840 (GRCm39) |
H480Q |
probably damaging |
Het |
| Tdpoz2 |
T |
C |
3: 93,559,153 (GRCm39) |
E273G |
probably damaging |
Het |
| Tdpoz3 |
T |
A |
3: 93,733,870 (GRCm39) |
W182R |
possibly damaging |
Het |
| Tmx4 |
T |
C |
2: 134,451,444 (GRCm39) |
T170A |
probably benign |
Het |
| Vmn1r59 |
A |
T |
7: 5,457,064 (GRCm39) |
M232K |
possibly damaging |
Het |
|
| Other mutations in Wdr20rt |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00488:Wdr20rt
|
APN |
12 |
65,272,744 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02142:Wdr20rt
|
APN |
12 |
65,274,039 (GRCm39) |
missense |
probably benign |
0.22 |
|
IGL02938:Wdr20rt
|
APN |
12 |
65,272,692 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0501:Wdr20rt
|
UTSW |
12 |
65,272,581 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0548:Wdr20rt
|
UTSW |
12 |
65,274,089 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0652:Wdr20rt
|
UTSW |
12 |
65,272,689 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1715:Wdr20rt
|
UTSW |
12 |
65,274,088 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1733:Wdr20rt
|
UTSW |
12 |
65,274,055 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R1851:Wdr20rt
|
UTSW |
12 |
65,273,925 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R2010:Wdr20rt
|
UTSW |
12 |
65,273,988 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R2214:Wdr20rt
|
UTSW |
12 |
65,274,187 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2254:Wdr20rt
|
UTSW |
12 |
65,273,007 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4793:Wdr20rt
|
UTSW |
12 |
65,273,395 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5169:Wdr20rt
|
UTSW |
12 |
65,274,184 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6238:Wdr20rt
|
UTSW |
12 |
65,272,964 (GRCm39) |
start gained |
probably benign |
|
|
R7018:Wdr20rt
|
UTSW |
12 |
65,272,536 (GRCm39) |
splice site |
probably null |
|
|
R7143:Wdr20rt
|
UTSW |
12 |
65,272,692 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7707:Wdr20rt
|
UTSW |
12 |
65,272,981 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8436:Wdr20rt
|
UTSW |
12 |
65,273,035 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8556:Wdr20rt
|
UTSW |
12 |
65,273,739 (GRCm39) |
missense |
probably benign |
0.10 |
|
R9071:Wdr20rt
|
UTSW |
12 |
65,274,222 (GRCm39) |
missense |
probably benign |
0.09 |
|
R9159:Wdr20rt
|
UTSW |
12 |
65,272,918 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9513:Wdr20rt
|
UTSW |
12 |
65,272,825 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9655:Wdr20rt
|
UTSW |
12 |
65,273,707 (GRCm39) |
missense |
probably benign |
|
|
R9659:Wdr20rt
|
UTSW |
12 |
65,273,343 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCACAAGGGACCTTAAGTGG -3'
(R):5'- GCTCGATCTCTGCCAAAATG -3'
Sequencing Primer
(F):5'- ACCTTAAGTGGACGGTGGGC -3'
(R):5'- CTCTGCCAAAATGAAGAAGGTCCTG -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation