Incidental Mutation 'R0060:Wdr75'
| ID |
18105 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Wdr75
|
| Ensembl Gene |
ENSMUSG00000025995 |
| Gene Name |
WD repeat domain 75 |
| Synonyms |
2410118I19Rik, 1300003A18Rik |
| MMRRC Submission |
038353-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.949)
|
| Stock # |
R0060 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
45795166-45823619 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 45816617 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 476
(D476G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027139
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027139]
|
| AlphaFold |
Q3U821 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027139
AA Change: D476G
PolyPhen 2
Score 0.163 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000027139
Gene: ENSMUSG00000025995
AA Change: D476G
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
4 |
42 |
3.82e1 |
SMART |
|
WD40
|
45 |
85 |
1.25e-9 |
SMART |
|
WD40
|
185 |
230 |
1.61e-3 |
SMART |
|
WD40
|
239 |
275 |
4.44e0 |
SMART |
|
WD40
|
278 |
317 |
7.67e0 |
SMART |
|
low complexity region
|
405 |
417 |
N/A |
INTRINSIC |
|
WD40
|
431 |
473 |
7.67e0 |
SMART |
|
WD40
|
486 |
524 |
3.08e0 |
SMART |
|
WD40
|
527 |
568 |
3.96e1 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135662
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143737
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154436
|
| Meta Mutation Damage Score |
0.0659 |
| Coding Region Coverage |
- 1x: 90.4%
- 3x: 88.3%
- 10x: 83.8%
- 20x: 78.1%
|
| Validation Efficiency |
94% (74/79) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810011H11Rik |
C |
A |
14: 32,806,769 (GRCm38) |
|
probably benign |
Het |
| 1810065E05Rik |
A |
C |
11: 58,422,182 (GRCm38) |
|
probably benign |
Het |
| 4930432E11Rik |
A |
G |
7: 29,574,170 (GRCm38) |
|
noncoding transcript |
Het |
| A630091E08Rik |
A |
G |
7: 98,543,668 (GRCm38) |
|
noncoding transcript |
Het |
| Abca8a |
T |
C |
11: 110,070,480 (GRCm38) |
T539A |
probably damaging |
Het |
| Adam34 |
A |
T |
8: 43,675,883 (GRCm38) |
|
probably benign |
Het |
| Ankrd60 |
A |
T |
2: 173,572,613 (GRCm38) |
M1K |
probably null |
Het |
| Cald1 |
T |
C |
6: 34,715,459 (GRCm38) |
|
probably benign |
Het |
| Capn7 |
T |
C |
14: 31,365,604 (GRCm38) |
|
probably benign |
Het |
| Cd109 |
G |
A |
9: 78,703,107 (GRCm38) |
E1145K |
probably damaging |
Het |
| Celsr1 |
A |
T |
15: 85,922,198 (GRCm38) |
V2353D |
probably damaging |
Het |
| Cep135 |
A |
T |
5: 76,621,350 (GRCm38) |
I616F |
probably benign |
Het |
| Cep162 |
T |
A |
9: 87,237,825 (GRCm38) |
|
probably benign |
Het |
| Cep350 |
C |
T |
1: 155,928,626 (GRCm38) |
D904N |
probably damaging |
Het |
| Cep85 |
T |
C |
4: 134,167,300 (GRCm38) |
D65G |
probably damaging |
Het |
| Cfdp1 |
T |
C |
8: 111,840,354 (GRCm38) |
|
probably benign |
Het |
| Chl1 |
T |
A |
6: 103,711,058 (GRCm38) |
|
probably benign |
Het |
| Colec10 |
G |
A |
15: 54,439,146 (GRCm38) |
|
probably benign |
Het |
| Crxos |
A |
G |
7: 15,898,523 (GRCm38) |
T40A |
possibly damaging |
Het |
| Dnhd1 |
A |
G |
7: 105,668,514 (GRCm38) |
D472G |
probably damaging |
Het |
| Dpp6 |
C |
A |
5: 27,598,819 (GRCm38) |
N254K |
probably damaging |
Het |
| Eps8l3 |
T |
C |
3: 107,879,541 (GRCm38) |
L11S |
probably damaging |
Het |
| Flad1 |
G |
A |
3: 89,402,245 (GRCm38) |
R515* |
probably null |
Het |
| Fzd5 |
T |
C |
1: 64,735,676 (GRCm38) |
T309A |
probably benign |
Het |
| Gm19685 |
T |
C |
17: 60,768,423 (GRCm38) |
|
|
Het |
| Gsdme |
A |
G |
6: 50,221,029 (GRCm38) |
I317T |
possibly damaging |
Het |
| Hist1h2ba |
A |
T |
13: 23,933,945 (GRCm38) |
I71N |
possibly damaging |
Het |
| Incenp |
A |
G |
19: 9,885,459 (GRCm38) |
|
probably benign |
Het |
| Itgad |
T |
C |
7: 128,202,986 (GRCm38) |
S979P |
probably damaging |
Het |
| Kat2b |
T |
C |
17: 53,654,543 (GRCm38) |
V557A |
probably damaging |
Het |
| Lamc1 |
A |
T |
1: 153,241,868 (GRCm38) |
|
probably benign |
Het |
| Lgi4 |
G |
A |
7: 31,063,571 (GRCm38) |
G157D |
probably damaging |
Het |
| Mga |
T |
C |
2: 119,960,961 (GRCm38) |
|
probably null |
Het |
| Nubpl |
T |
C |
12: 52,310,687 (GRCm38) |
|
probably benign |
Het |
| Olfr1105 |
T |
C |
2: 87,033,774 (GRCm38) |
Y149C |
probably damaging |
Het |
| Olfr124 |
T |
C |
17: 37,806,000 (GRCm38) |
L285P |
probably damaging |
Het |
| Olfr898 |
C |
T |
9: 38,349,512 (GRCm38) |
S143F |
probably benign |
Het |
| Peak1 |
A |
T |
9: 56,227,823 (GRCm38) |
I78K |
probably damaging |
Het |
| Prune2 |
T |
A |
19: 17,003,733 (GRCm38) |
F85I |
probably damaging |
Het |
| Rbm11 |
G |
T |
16: 75,598,779 (GRCm38) |
D113Y |
probably damaging |
Het |
| Rif1 |
C |
T |
2: 52,111,117 (GRCm38) |
R1528C |
probably damaging |
Het |
| Sema4d |
A |
G |
13: 51,705,257 (GRCm38) |
|
probably benign |
Het |
| Slc30a4 |
T |
A |
2: 122,685,184 (GRCm38) |
T381S |
probably benign |
Het |
| Slf2 |
G |
T |
19: 44,948,004 (GRCm38) |
G696V |
probably damaging |
Het |
| Suv39h2 |
T |
C |
2: 3,464,916 (GRCm38) |
Y134C |
probably damaging |
Het |
| Tmem89 |
T |
A |
9: 108,915,417 (GRCm38) |
V126D |
probably damaging |
Het |
| Trf |
T |
C |
9: 103,220,922 (GRCm38) |
T46A |
probably benign |
Het |
| Trmt6 |
C |
T |
2: 132,806,769 (GRCm38) |
R415Q |
possibly damaging |
Het |
| Trp53bp1 |
T |
C |
2: 121,204,525 (GRCm38) |
K1625E |
probably damaging |
Het |
| Usp6nl |
T |
A |
2: 6,440,890 (GRCm38) |
D559E |
probably benign |
Het |
| Wrap53 |
A |
C |
11: 69,563,430 (GRCm38) |
L261V |
possibly damaging |
Het |
| Zcchc4 |
T |
A |
5: 52,807,078 (GRCm38) |
I292N |
possibly damaging |
Het |
|
| Other mutations in Wdr75 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00467:Wdr75
|
APN |
1 |
45,802,075 (GRCm38) |
missense |
probably benign |
0.02 |
|
IGL00711:Wdr75
|
APN |
1 |
45,823,381 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL01350:Wdr75
|
APN |
1 |
45,818,260 (GRCm38) |
nonsense |
probably null |
|
|
IGL02135:Wdr75
|
APN |
1 |
45,817,448 (GRCm38) |
splice site |
probably null |
|
|
IGL02135:Wdr75
|
APN |
1 |
45,814,563 (GRCm38) |
missense |
probably damaging |
1.00 |
|
BB008:Wdr75
|
UTSW |
1 |
45,819,635 (GRCm38) |
missense |
probably benign |
0.00 |
|
BB018:Wdr75
|
UTSW |
1 |
45,819,635 (GRCm38) |
missense |
probably benign |
0.00 |
|
FR4976:Wdr75
|
UTSW |
1 |
45,823,404 (GRCm38) |
utr 3 prime |
probably benign |
|
|
PIT4378001:Wdr75
|
UTSW |
1 |
45,820,173 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R0463:Wdr75
|
UTSW |
1 |
45,819,602 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0963:Wdr75
|
UTSW |
1 |
45,817,310 (GRCm38) |
missense |
probably benign |
0.07 |
|
R1364:Wdr75
|
UTSW |
1 |
45,799,062 (GRCm38) |
missense |
probably benign |
0.01 |
|
R1382:Wdr75
|
UTSW |
1 |
45,817,311 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1562:Wdr75
|
UTSW |
1 |
45,803,870 (GRCm38) |
splice site |
probably null |
|
|
R1909:Wdr75
|
UTSW |
1 |
45,823,403 (GRCm38) |
missense |
probably benign |
0.00 |
|
R2968:Wdr75
|
UTSW |
1 |
45,817,341 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3972:Wdr75
|
UTSW |
1 |
45,822,554 (GRCm38) |
missense |
probably benign |
0.01 |
|
R4372:Wdr75
|
UTSW |
1 |
45,806,673 (GRCm38) |
unclassified |
probably benign |
|
|
R4720:Wdr75
|
UTSW |
1 |
45,822,485 (GRCm38) |
missense |
probably benign |
0.05 |
|
R4922:Wdr75
|
UTSW |
1 |
45,816,478 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5201:Wdr75
|
UTSW |
1 |
45,823,359 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5242:Wdr75
|
UTSW |
1 |
45,817,327 (GRCm38) |
nonsense |
probably null |
|
|
R5255:Wdr75
|
UTSW |
1 |
45,799,117 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5320:Wdr75
|
UTSW |
1 |
45,799,051 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R5450:Wdr75
|
UTSW |
1 |
45,812,164 (GRCm38) |
missense |
probably benign |
0.26 |
|
R6072:Wdr75
|
UTSW |
1 |
45,799,051 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R6147:Wdr75
|
UTSW |
1 |
45,819,538 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6341:Wdr75
|
UTSW |
1 |
45,802,131 (GRCm38) |
critical splice donor site |
probably null |
|
|
R6629:Wdr75
|
UTSW |
1 |
45,812,056 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6646:Wdr75
|
UTSW |
1 |
45,799,087 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6722:Wdr75
|
UTSW |
1 |
45,805,352 (GRCm38) |
splice site |
probably null |
|
|
R6750:Wdr75
|
UTSW |
1 |
45,817,379 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6850:Wdr75
|
UTSW |
1 |
45,814,598 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6851:Wdr75
|
UTSW |
1 |
45,823,427 (GRCm38) |
missense |
probably benign |
|
|
R7172:Wdr75
|
UTSW |
1 |
45,799,134 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7248:Wdr75
|
UTSW |
1 |
45,817,400 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7809:Wdr75
|
UTSW |
1 |
45,823,436 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7931:Wdr75
|
UTSW |
1 |
45,819,635 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7937:Wdr75
|
UTSW |
1 |
45,819,639 (GRCm38) |
missense |
probably benign |
0.17 |
|
R8171:Wdr75
|
UTSW |
1 |
45,822,546 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8218:Wdr75
|
UTSW |
1 |
45,818,182 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8724:Wdr75
|
UTSW |
1 |
45,817,400 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8900:Wdr75
|
UTSW |
1 |
45,799,127 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9400:Wdr75
|
UTSW |
1 |
45,803,904 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9665:Wdr75
|
UTSW |
1 |
45,803,853 (GRCm38) |
missense |
unknown |
|
|
| Posted On |
2013-03-25 |
Incidental Mutation