Incidental Mutation 'R1117:Wdr43'
| ID |
97462 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Wdr43
|
| Ensembl Gene |
ENSMUSG00000041057 |
| Gene Name |
WD repeat domain 43 |
| Synonyms |
2610318G08Rik |
| MMRRC Submission |
039190-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.964)
|
| Stock # |
R1117 (G1)
|
| Quality Score |
148 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
71923175-71966026 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 71923382 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 43
(T43A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000048337
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047086]
|
| AlphaFold |
Q6ZQL4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000047086
AA Change: T43A
PolyPhen 2
Score 0.353 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000048337
Gene: ENSMUSG00000041057
AA Change: T43A
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
8 |
42 |
4.42e1 |
SMART |
|
WD40
|
45 |
110 |
2.2e2 |
SMART |
|
WD40
|
113 |
154 |
7.85e-7 |
SMART |
|
WD40
|
157 |
194 |
1.24e-4 |
SMART |
|
WD40
|
197 |
249 |
5.52e0 |
SMART |
|
Blast:WD40
|
256 |
299 |
1e-18 |
BLAST |
|
low complexity region
|
320 |
334 |
N/A |
INTRINSIC |
|
Pfam:Utp12
|
472 |
575 |
2.3e-23 |
PFAM |
|
coiled coil region
|
635 |
663 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.6%
- 20x: 90.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(36) : Gene trapped(36)
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh1l2 |
G |
A |
10: 83,344,487 (GRCm39) |
T353I |
probably benign |
Het |
| Arpc1b |
T |
C |
5: 145,062,564 (GRCm39) |
V226A |
possibly damaging |
Het |
| Casz1 |
C |
A |
4: 149,019,052 (GRCm39) |
T451K |
probably damaging |
Het |
| Ccr4 |
C |
T |
9: 114,321,085 (GRCm39) |
V327M |
probably benign |
Het |
| Cntrl |
A |
G |
2: 35,017,985 (GRCm39) |
E465G |
probably damaging |
Het |
| Cpa1 |
A |
G |
6: 30,645,260 (GRCm39) |
D412G |
probably benign |
Het |
| Crispld1 |
T |
A |
1: 17,819,846 (GRCm39) |
N281K |
probably benign |
Het |
| Cul3 |
T |
C |
1: 80,258,641 (GRCm39) |
Q465R |
probably damaging |
Het |
| Cyp2c68 |
G |
A |
19: 39,700,903 (GRCm39) |
T305M |
probably damaging |
Het |
| Elp4 |
T |
C |
2: 105,672,656 (GRCm39) |
D143G |
probably benign |
Het |
| Etnppl |
A |
G |
3: 130,428,212 (GRCm39) |
I462M |
probably benign |
Het |
| Fmo4 |
A |
G |
1: 162,631,232 (GRCm39) |
V245A |
probably benign |
Het |
| Gm4076 |
A |
G |
13: 85,275,437 (GRCm39) |
|
noncoding transcript |
Het |
| Gtf3c3 |
C |
T |
1: 54,456,937 (GRCm39) |
A488T |
probably damaging |
Het |
| Kcnj15 |
G |
A |
16: 95,096,484 (GRCm39) |
M8I |
probably benign |
Het |
| Klk1b22 |
A |
T |
7: 43,766,283 (GRCm39) |
M255L |
probably benign |
Het |
| Mmrn1 |
T |
A |
6: 60,953,309 (GRCm39) |
I530K |
possibly damaging |
Het |
| Muc21 |
T |
C |
17: 35,930,920 (GRCm39) |
|
probably benign |
Het |
| Nid2 |
A |
C |
14: 19,813,732 (GRCm39) |
|
probably null |
Het |
| Or10g6 |
T |
C |
9: 39,934,058 (GRCm39) |
F123S |
probably damaging |
Het |
| Or10h28 |
C |
T |
17: 33,487,940 (GRCm39) |
R81* |
probably null |
Het |
| Or9e1 |
A |
G |
11: 58,732,641 (GRCm39) |
K234E |
possibly damaging |
Het |
| Peak1 |
G |
A |
9: 56,165,702 (GRCm39) |
T742M |
probably benign |
Het |
| Sel1l3 |
T |
A |
5: 53,329,949 (GRCm39) |
T469S |
probably benign |
Het |
| Sez6 |
A |
G |
11: 77,865,340 (GRCm39) |
Y659C |
probably damaging |
Het |
| Slc19a2 |
A |
T |
1: 164,091,025 (GRCm39) |
I278F |
possibly damaging |
Het |
| Slc36a3 |
T |
C |
11: 55,037,006 (GRCm39) |
I100V |
possibly damaging |
Het |
| Tcerg1 |
A |
G |
18: 42,707,717 (GRCm39) |
D1079G |
probably damaging |
Het |
| Trim43c |
T |
C |
9: 88,727,030 (GRCm39) |
S286P |
probably benign |
Het |
| Umod |
T |
C |
7: 119,076,529 (GRCm39) |
N79S |
possibly damaging |
Het |
|
| Other mutations in Wdr43 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00231:Wdr43
|
APN |
17 |
71,959,809 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02077:Wdr43
|
APN |
17 |
71,947,286 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02114:Wdr43
|
APN |
17 |
71,959,843 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02252:Wdr43
|
APN |
17 |
71,933,845 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02352:Wdr43
|
APN |
17 |
71,939,043 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL02359:Wdr43
|
APN |
17 |
71,939,043 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL03082:Wdr43
|
APN |
17 |
71,945,336 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03095:Wdr43
|
APN |
17 |
71,948,282 (GRCm39) |
missense |
probably benign |
0.28 |
|
IGL02837:Wdr43
|
UTSW |
17 |
71,949,731 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0039:Wdr43
|
UTSW |
17 |
71,960,487 (GRCm39) |
nonsense |
probably null |
|
|
R0164:Wdr43
|
UTSW |
17 |
71,938,992 (GRCm39) |
splice site |
probably benign |
|
|
R0271:Wdr43
|
UTSW |
17 |
71,933,820 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1873:Wdr43
|
UTSW |
17 |
71,940,647 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1973:Wdr43
|
UTSW |
17 |
71,947,235 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3620:Wdr43
|
UTSW |
17 |
71,957,601 (GRCm39) |
missense |
probably benign |
0.13 |
|
R3922:Wdr43
|
UTSW |
17 |
71,945,296 (GRCm39) |
splice site |
probably benign |
|
|
R4097:Wdr43
|
UTSW |
17 |
71,964,532 (GRCm39) |
missense |
probably benign |
|
|
R5067:Wdr43
|
UTSW |
17 |
71,933,849 (GRCm39) |
missense |
probably benign |
|
|
R5282:Wdr43
|
UTSW |
17 |
71,955,772 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6251:Wdr43
|
UTSW |
17 |
71,957,048 (GRCm39) |
splice site |
probably null |
|
|
R6364:Wdr43
|
UTSW |
17 |
71,964,649 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7086:Wdr43
|
UTSW |
17 |
71,923,434 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7725:Wdr43
|
UTSW |
17 |
71,923,338 (GRCm39) |
missense |
probably benign |
0.27 |
|
R8104:Wdr43
|
UTSW |
17 |
71,923,350 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8901:Wdr43
|
UTSW |
17 |
71,932,461 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9648:Wdr43
|
UTSW |
17 |
71,960,494 (GRCm39) |
missense |
probably benign |
0.04 |
|
| Predicted Primers |
PCR Primer
(F):5'- CGTCACGACCAGCCACTTCTTG -3'
(R):5'- TTCGATGAACATGGCGGCCCAG -3'
Sequencing Primer
(F):5'- ACTTCTTGGGCTCTCAGCG -3'
(R):5'- tccgcgccTCCTCTCTC -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation