Incidental Mutation 'R9174:Wdr46'
| ID |
696596 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Wdr46
|
| Ensembl Gene |
ENSMUSG00000024312 |
| Gene Name |
WD repeat domain 46 |
| Synonyms |
2310007I04Rik, Bing4 |
| MMRRC Submission |
068977-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.969)
|
| Stock # |
R9174 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
34159634-34168671 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 34167668 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 493
(R493L)
|
| 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: R493L
PolyPhen 2
Score 0.522 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000025170
Gene: ENSMUSG00000024312
AA Change: R493L
| 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 |
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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (33/33) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap1 |
A |
G |
11: 88,725,991 (GRCm39) |
Y737H |
probably damaging |
Het |
| Arap2 |
A |
T |
5: 62,855,606 (GRCm39) |
V610E |
probably damaging |
Het |
| Arf1 |
G |
A |
11: 59,103,433 (GRCm39) |
T158I |
probably damaging |
Het |
| Atat1 |
T |
C |
17: 36,220,032 (GRCm39) |
K90R |
probably benign |
Het |
| Cfap70 |
C |
A |
14: 20,493,706 (GRCm39) |
G132W |
probably damaging |
Het |
| Cpne9 |
T |
A |
6: 113,279,032 (GRCm39) |
D475E |
probably damaging |
Het |
| Dapp1 |
T |
C |
3: 137,638,916 (GRCm39) |
D270G |
probably benign |
Het |
| Dnajc21 |
A |
T |
15: 10,462,076 (GRCm39) |
Y108* |
probably null |
Het |
| Etv4 |
A |
G |
11: 101,662,705 (GRCm39) |
|
probably null |
Het |
| Fes |
C |
A |
7: 80,030,631 (GRCm39) |
V555F |
probably damaging |
Het |
| Gm14496 |
A |
C |
2: 181,642,797 (GRCm39) |
I823L |
possibly damaging |
Het |
| H2-M9 |
A |
C |
17: 36,953,181 (GRCm39) |
L42R |
probably damaging |
Het |
| Ifitm2 |
A |
T |
7: 140,535,013 (GRCm39) |
I107N |
probably damaging |
Het |
| Impg1 |
T |
C |
9: 80,252,750 (GRCm39) |
T477A |
probably damaging |
Het |
| Inca1 |
G |
A |
11: 70,580,732 (GRCm39) |
P78S |
possibly damaging |
Het |
| Khk |
A |
G |
5: 31,085,819 (GRCm39) |
E126G |
probably benign |
Het |
| Klk15 |
C |
T |
7: 43,587,790 (GRCm39) |
H73Y |
possibly damaging |
Het |
| Mars1 |
A |
T |
10: 127,135,237 (GRCm39) |
I618N |
probably damaging |
Het |
| Mgl2 |
C |
A |
11: 70,026,606 (GRCm39) |
F110L |
probably benign |
Het |
| Mon1b |
A |
G |
8: 114,365,689 (GRCm39) |
D339G |
probably damaging |
Het |
| Pfdn2 |
G |
C |
1: 171,184,164 (GRCm39) |
E48Q |
probably damaging |
Het |
| Pilra |
A |
G |
5: 137,833,898 (GRCm39) |
I56T |
probably damaging |
Het |
| Ptpru |
A |
T |
4: 131,535,746 (GRCm39) |
N410K |
probably damaging |
Het |
| Sema3c |
T |
C |
5: 17,868,039 (GRCm39) |
|
probably null |
Het |
| Skic3 |
A |
G |
13: 76,295,893 (GRCm39) |
E1052G |
probably benign |
Het |
| Stau1 |
A |
G |
2: 166,791,269 (GRCm39) |
C495R |
probably damaging |
Het |
| Ubap1l |
T |
A |
9: 65,284,289 (GRCm39) |
H339Q |
probably benign |
Het |
| Urb2 |
A |
G |
8: 124,767,987 (GRCm39) |
D1411G |
possibly damaging |
Het |
| Ush2a |
T |
A |
1: 188,460,416 (GRCm39) |
I2559N |
probably damaging |
Het |
| Vipas39 |
A |
T |
12: 87,305,885 (GRCm39) |
S103T |
possibly damaging |
Het |
| Vrk1 |
G |
A |
12: 106,002,811 (GRCm39) |
R3H |
probably benign |
Het |
| Zbtb8a |
T |
C |
4: 129,254,125 (GRCm39) |
D123G |
probably 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 |
|
R6529:Wdr46
|
UTSW |
17 |
34,168,120 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTTCTGCCCCTTTGAAGACG -3'
(R):5'- GGGGTTCAAACAAATGAGCTC -3'
Sequencing Primer
(F):5'- ACAGTGGAGGCTTCACCAG -3'
(R):5'- CAAATGAGCTCTGCAGGTACCTG -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation