Incidental Mutation 'R6529:Wdr46'
| ID |
522229 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Wdr46
|
| Ensembl Gene |
ENSMUSG00000024312 |
| Gene Name |
WD repeat domain 46 |
| Synonyms |
2310007I04Rik, Bing4 |
| MMRRC Submission |
044655-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.968)
|
| Stock # |
R6529 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
34159634-34168671 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 34168120 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 564
(L564Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025170
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000008812]
[ENSMUST00000025170]
[ENSMUST00000087543]
[ENSMUST00000174609]
|
| AlphaFold |
Q9Z0H1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000008812
|
| SMART Domains |
Protein: ENSMUSP00000008812
Gene: ENSMUSG00000008668
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ribosomal_S13
|
14 |
142 |
2.2e-59 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000025170
AA Change: L564Q
PolyPhen 2
Score 0.783 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000025170
Gene: ENSMUSG00000024312
AA Change: L564Q
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
126 |
155 |
N/A |
INTRINSIC |
|
low complexity region
|
204 |
217 |
N/A |
INTRINSIC |
|
WD40
|
225 |
262 |
1.02e2 |
SMART |
|
WD40
|
267 |
302 |
3.3e1 |
SMART |
|
Blast:WD40
|
305 |
344 |
8e-19 |
BLAST |
|
WD40
|
347 |
386 |
9.52e-6 |
SMART |
|
Blast:WD40
|
392 |
426 |
3e-14 |
BLAST |
|
BING4CT
|
439 |
517 |
8.85e-53 |
SMART |
|
low complexity region
|
542 |
556 |
N/A |
INTRINSIC |
|
low complexity region
|
586 |
593 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000087543
|
| SMART Domains |
Protein: ENSMUSP00000084823
Gene: ENSMUSG00000067370
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
5 |
24 |
N/A |
INTRINSIC |
|
Pfam:Galactosyl_T
|
85 |
302 |
1.3e-66 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000172799
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173323
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174175
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174609
|
| SMART Domains |
Protein: ENSMUSP00000138296
Gene: ENSMUSG00000008668
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ribosomal_S13
|
14 |
107 |
2.1e-21 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174620
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174745
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174758
|
| Meta Mutation Damage Score |
0.0846 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.4%
- 20x: 91.6%
|
| Validation Efficiency |
98% (41/42) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acan |
A |
T |
7: 78,739,479 (GRCm39) |
M296L |
probably benign |
Het |
| Atxn2 |
T |
C |
5: 121,949,677 (GRCm39) |
|
probably null |
Het |
| B3galnt2 |
G |
T |
13: 14,170,377 (GRCm39) |
R242S |
probably benign |
Het |
| Bltp3a |
A |
G |
17: 28,098,750 (GRCm39) |
I218M |
possibly damaging |
Het |
| Casz1 |
G |
A |
4: 149,022,646 (GRCm39) |
E571K |
probably damaging |
Het |
| Ccdc163 |
A |
G |
4: 116,566,121 (GRCm39) |
|
probably null |
Het |
| Cd109 |
A |
G |
9: 78,619,907 (GRCm39) |
D1383G |
probably damaging |
Het |
| Cd200r1 |
A |
G |
16: 44,610,065 (GRCm39) |
T95A |
possibly damaging |
Het |
| Chd2 |
T |
C |
7: 73,153,191 (GRCm39) |
E219G |
possibly damaging |
Het |
| Cibar1 |
A |
G |
4: 12,168,978 (GRCm39) |
V175A |
probably damaging |
Het |
| Dnah14 |
T |
A |
1: 181,494,034 (GRCm39) |
V1730D |
probably damaging |
Het |
| Eps8 |
G |
A |
6: 137,491,335 (GRCm39) |
H348Y |
possibly damaging |
Het |
| Fbxo2 |
A |
T |
4: 148,249,511 (GRCm39) |
D187V |
probably damaging |
Het |
| Fsip2 |
A |
T |
2: 82,812,657 (GRCm39) |
Y2992F |
probably benign |
Het |
| Gle1 |
A |
T |
2: 29,825,539 (GRCm39) |
T10S |
possibly damaging |
Het |
| Got2 |
T |
C |
8: 96,615,013 (GRCm39) |
|
probably benign |
Het |
| Gtf3c6 |
T |
C |
10: 40,127,251 (GRCm39) |
T34A |
probably benign |
Het |
| H4c11 |
G |
T |
13: 21,919,476 (GRCm39) |
V71F |
possibly damaging |
Het |
| Klf15 |
C |
T |
6: 90,444,394 (GRCm39) |
T323I |
probably damaging |
Het |
| Krtap5-3 |
C |
A |
7: 141,756,079 (GRCm39) |
C305* |
probably null |
Het |
| Map2k6 |
A |
T |
11: 110,383,388 (GRCm39) |
D99V |
probably damaging |
Het |
| Nckap5l |
G |
T |
15: 99,324,475 (GRCm39) |
P676Q |
probably benign |
Het |
| Nup188 |
A |
T |
2: 30,216,466 (GRCm39) |
T757S |
possibly damaging |
Het |
| Or10ak13 |
C |
T |
4: 118,638,907 (GRCm39) |
V292I |
probably benign |
Het |
| Or51q1c |
T |
C |
7: 103,653,133 (GRCm39) |
V217A |
probably benign |
Het |
| Peg3 |
C |
A |
7: 6,711,071 (GRCm39) |
A1384S |
probably damaging |
Het |
| Plekho2 |
C |
T |
9: 65,480,383 (GRCm39) |
R14H |
probably benign |
Het |
| Qsox2 |
A |
T |
2: 26,107,753 (GRCm39) |
C247S |
probably damaging |
Het |
| Slc25a13 |
A |
G |
6: 6,073,451 (GRCm39) |
V469A |
probably benign |
Het |
| Slitrk3 |
T |
C |
3: 72,958,551 (GRCm39) |
T74A |
probably benign |
Het |
| Spmip7 |
T |
C |
11: 11,465,009 (GRCm39) |
F120S |
possibly damaging |
Het |
| Sult1a1 |
T |
C |
7: 126,274,310 (GRCm39) |
T91A |
probably benign |
Het |
| Sult3a2 |
T |
C |
10: 33,655,733 (GRCm39) |
Y82C |
probably damaging |
Het |
| Taf1b |
A |
T |
12: 24,606,650 (GRCm39) |
H490L |
possibly damaging |
Het |
| Trrap |
T |
A |
5: 144,771,014 (GRCm39) |
H2804Q |
probably benign |
Het |
| Usp8 |
A |
G |
2: 126,567,298 (GRCm39) |
I106V |
probably benign |
Het |
| Wdcp |
T |
A |
12: 4,901,143 (GRCm39) |
V333D |
probably damaging |
Het |
| Wrn |
T |
C |
8: 33,826,004 (GRCm39) |
|
probably null |
Het |
| Zfp664 |
C |
T |
5: 124,963,352 (GRCm39) |
H249Y |
probably damaging |
Het |
| Zfp975 |
A |
C |
7: 42,311,325 (GRCm39) |
H429Q |
possibly damaging |
Het |
|
| Other mutations in Wdr46 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0147:Wdr46
|
UTSW |
17 |
34,159,997 (GRCm39) |
missense |
probably benign |
|
|
R0148:Wdr46
|
UTSW |
17 |
34,159,997 (GRCm39) |
missense |
probably benign |
|
|
R1405:Wdr46
|
UTSW |
17 |
34,168,057 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1405:Wdr46
|
UTSW |
17 |
34,168,057 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2085:Wdr46
|
UTSW |
17 |
34,160,425 (GRCm39) |
nonsense |
probably null |
|
|
R4319:Wdr46
|
UTSW |
17 |
34,159,718 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4368:Wdr46
|
UTSW |
17 |
34,160,120 (GRCm39) |
unclassified |
probably benign |
|
|
R4831:Wdr46
|
UTSW |
17 |
34,168,373 (GRCm39) |
unclassified |
probably benign |
|
|
R4831:Wdr46
|
UTSW |
17 |
34,160,810 (GRCm39) |
missense |
probably benign |
0.17 |
|
R5118:Wdr46
|
UTSW |
17 |
34,167,811 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R6211:Wdr46
|
UTSW |
17 |
34,163,459 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6347:Wdr46
|
UTSW |
17 |
34,160,826 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7318:Wdr46
|
UTSW |
17 |
34,160,859 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8699:Wdr46
|
UTSW |
17 |
34,167,826 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8993:Wdr46
|
UTSW |
17 |
34,168,156 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9072:Wdr46
|
UTSW |
17 |
34,163,555 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9174:Wdr46
|
UTSW |
17 |
34,167,668 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGAGACTGGTATGGAGCCAC -3'
(R):5'- TCTATCCAGTGCAGAGGGAC -3'
Sequencing Primer
(F):5'- CCACCTGCTATGTGCGC -3'
(R):5'- GCATGGCCATATCCTGCTTTTTC -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation