Incidental Mutation 'R4480:Wdr73'
| ID |
331427 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Wdr73
|
| Ensembl Gene |
ENSMUSG00000025722 |
| Gene Name |
WD repeat domain 73 |
| Synonyms |
1200011I23Rik, 2410008B13Rik |
| MMRRC Submission |
041737-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.268)
|
| Stock # |
R4480 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
80540471-80551017 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 80542969 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 213
(E213G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000026816
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026816]
|
| AlphaFold |
Q9CWR1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000026816
AA Change: E213G
PolyPhen 2
Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000026816
Gene: ENSMUSG00000025722
AA Change: E213G
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
67 |
112 |
8.52e1 |
SMART |
|
Blast:WD40
|
162 |
204 |
3e-6 |
BLAST |
|
Blast:WD40
|
208 |
254 |
3e-17 |
BLAST |
|
WD40
|
263 |
304 |
2.57e0 |
SMART |
|
WD40
|
314 |
364 |
8.91e-1 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131651
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133979
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135905
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139990
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000146402
AA Change: E186G
|
| SMART Domains |
Protein: ENSMUSP00000119974
Gene: ENSMUSG00000025722
AA Change: E186G
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:WD40
|
66 |
111 |
3e-26 |
BLAST |
|
Blast:WD40
|
182 |
228 |
4e-18 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147154
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147589
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152518
|
| Meta Mutation Damage Score |
0.2193 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.8%
|
| Validation Efficiency |
95% (40/42) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is thought to contain multiple WD40 repeats. WD40 repeats are motifs that contain 40-60 amino acids, and usually end with Trp-Asp (WD). This protein is found in the cytoplasm during interphase, but accumulates at the spindle poles and astral microtubules during mitosis. Reduced expression of this gene results in abnormalities in the size and morphology of the nucleus. Mutations in this gene have been associated with Galloway-Mowat syndrome PMID: 25466283), which is a rare autosomal recessive disorder that affects both the central nervous system and kidneys. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2015]
|
| Allele List at MGI |
All alleles(10) : Gene trapped(10) |
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc6 |
T |
C |
7: 45,654,663 (GRCm39) |
T553A |
possibly damaging |
Het |
| Adgrb3 |
A |
T |
1: 25,150,829 (GRCm39) |
F1135I |
probably damaging |
Het |
| Arfgef3 |
A |
T |
10: 18,476,348 (GRCm39) |
F1490L |
probably damaging |
Het |
| Begain |
A |
G |
12: 109,000,049 (GRCm39) |
Y446H |
probably damaging |
Het |
| Cdh15 |
A |
G |
8: 123,591,415 (GRCm39) |
H517R |
probably benign |
Het |
| Cemip2 |
A |
G |
19: 21,792,853 (GRCm39) |
Q703R |
probably benign |
Het |
| D130040H23Rik |
C |
A |
8: 69,755,155 (GRCm39) |
H187N |
possibly damaging |
Het |
| Dip2b |
C |
T |
15: 100,084,182 (GRCm39) |
T935M |
probably damaging |
Het |
| Eif2s2 |
T |
C |
2: 154,730,190 (GRCm39) |
T36A |
probably benign |
Het |
| Eif4g1 |
G |
T |
16: 20,497,593 (GRCm39) |
|
probably benign |
Het |
| Fat3 |
G |
A |
9: 15,909,567 (GRCm39) |
S2145F |
probably damaging |
Het |
| Fbxo10 |
T |
C |
4: 45,048,470 (GRCm39) |
Y555C |
probably damaging |
Het |
| Fpr2 |
C |
T |
17: 18,114,015 (GRCm39) |
T337I |
probably benign |
Het |
| Frem3 |
A |
T |
8: 81,337,986 (GRCm39) |
Q93L |
probably benign |
Het |
| Gapdh |
A |
G |
6: 125,140,145 (GRCm39) |
V119A |
possibly damaging |
Het |
| Gm3159 |
T |
C |
14: 4,398,584 (GRCm38) |
Y92H |
probably damaging |
Het |
| Hkdc1 |
T |
C |
10: 62,227,151 (GRCm39) |
I769V |
probably benign |
Het |
| Ifne |
T |
C |
4: 88,797,838 (GRCm39) |
*193W |
probably null |
Het |
| Katna1 |
T |
C |
10: 7,614,594 (GRCm39) |
V32A |
probably damaging |
Het |
| Nup107 |
T |
C |
10: 117,597,237 (GRCm39) |
I673V |
probably benign |
Het |
| Nup188 |
T |
A |
2: 30,212,141 (GRCm39) |
|
probably benign |
Het |
| Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
| Or10g1 |
G |
A |
14: 52,647,765 (GRCm39) |
A188V |
probably damaging |
Het |
| Or2t48 |
G |
T |
11: 58,420,627 (GRCm39) |
P62T |
probably damaging |
Het |
| Pcdhb5 |
T |
A |
18: 37,453,805 (GRCm39) |
S62T |
probably benign |
Het |
| Plekha5 |
T |
C |
6: 140,472,205 (GRCm39) |
V44A |
probably damaging |
Het |
| Psg18 |
C |
T |
7: 18,084,787 (GRCm39) |
S103N |
probably benign |
Het |
| Ptprcap |
A |
G |
19: 4,206,223 (GRCm39) |
E102G |
probably benign |
Het |
| Ptprs |
A |
G |
17: 56,733,404 (GRCm39) |
V804A |
possibly damaging |
Het |
| Rab35 |
C |
A |
5: 115,775,823 (GRCm39) |
S34* |
probably null |
Het |
| Slco6d1 |
T |
A |
1: 98,435,299 (GRCm39) |
Y671* |
probably null |
Het |
| Sostdc1 |
A |
G |
12: 36,367,165 (GRCm39) |
I114V |
probably damaging |
Het |
| Tecta |
A |
G |
9: 42,284,529 (GRCm39) |
F852S |
possibly damaging |
Het |
| Tmem179 |
T |
C |
12: 112,469,737 (GRCm39) |
E21G |
probably benign |
Het |
| Usp17la |
T |
A |
7: 104,509,897 (GRCm39) |
H167Q |
probably benign |
Het |
| Vps8 |
A |
T |
16: 21,363,986 (GRCm39) |
|
probably benign |
Het |
| Wdr17 |
A |
G |
8: 55,117,999 (GRCm39) |
|
probably null |
Het |
| Zfp985 |
A |
G |
4: 147,668,536 (GRCm39) |
D468G |
probably benign |
Het |
|
| Other mutations in Wdr73 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00710:Wdr73
|
APN |
7 |
80,543,411 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02183:Wdr73
|
APN |
7 |
80,543,508 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03253:Wdr73
|
APN |
7 |
80,547,694 (GRCm39) |
missense |
probably benign |
0.00 |
|
3-1:Wdr73
|
UTSW |
7 |
80,547,707 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R0469:Wdr73
|
UTSW |
7 |
80,547,698 (GRCm39) |
nonsense |
probably null |
|
|
R0507:Wdr73
|
UTSW |
7 |
80,541,594 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R0510:Wdr73
|
UTSW |
7 |
80,547,698 (GRCm39) |
nonsense |
probably null |
|
|
R1349:Wdr73
|
UTSW |
7 |
80,543,000 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1782:Wdr73
|
UTSW |
7 |
80,541,526 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1917:Wdr73
|
UTSW |
7 |
80,543,081 (GRCm39) |
missense |
probably benign |
0.17 |
|
R3085:Wdr73
|
UTSW |
7 |
80,550,990 (GRCm39) |
unclassified |
probably benign |
|
|
R4478:Wdr73
|
UTSW |
7 |
80,542,969 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4479:Wdr73
|
UTSW |
7 |
80,542,969 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4910:Wdr73
|
UTSW |
7 |
80,541,456 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4925:Wdr73
|
UTSW |
7 |
80,542,943 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5046:Wdr73
|
UTSW |
7 |
80,542,173 (GRCm39) |
unclassified |
probably benign |
|
|
R5286:Wdr73
|
UTSW |
7 |
80,541,557 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5842:Wdr73
|
UTSW |
7 |
80,541,458 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6991:Wdr73
|
UTSW |
7 |
80,541,604 (GRCm39) |
missense |
probably benign |
0.17 |
|
R7182:Wdr73
|
UTSW |
7 |
80,543,426 (GRCm39) |
missense |
possibly damaging |
0.45 |
|
R7197:Wdr73
|
UTSW |
7 |
80,542,946 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7362:Wdr73
|
UTSW |
7 |
80,550,451 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7771:Wdr73
|
UTSW |
7 |
80,542,975 (GRCm39) |
missense |
probably benign |
0.13 |
|
R8558:Wdr73
|
UTSW |
7 |
80,548,254 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8950:Wdr73
|
UTSW |
7 |
80,550,131 (GRCm39) |
missense |
probably benign |
0.00 |
|
X0022:Wdr73
|
UTSW |
7 |
80,547,699 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTTGAACACCGGACACTGG -3'
(R):5'- CTCAGGGTTTCTGTGCCAGATG -3'
Sequencing Primer
(F):5'- GGCTGAGCTCACAGGATGAC -3'
(R):5'- CACCAGCAGAGCAGACTGG -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation