Incidental Mutation 'R2968:Wdr75'
ID |
263305 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Wdr75
|
Ensembl Gene |
ENSMUSG00000025995 |
Gene Name |
WD repeat domain 75 |
Synonyms |
1300003A18Rik, 2410118I19Rik |
MMRRC Submission |
040524-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.944)
|
Stock # |
R2968 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
45834326-45862779 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 45856501 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 508
(D508G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000027139
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027139]
|
AlphaFold |
Q3U821 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000027139
AA Change: D508G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000027139 Gene: ENSMUSG00000025995 AA Change: D508G
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
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000186308
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 22 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb1b |
T |
A |
5: 8,911,485 (GRCm39) |
I1113N |
probably damaging |
Het |
Arhgap12 |
A |
T |
18: 6,111,732 (GRCm39) |
S211T |
probably damaging |
Het |
Celsr3 |
G |
T |
9: 108,709,390 (GRCm39) |
C1412F |
probably damaging |
Het |
Cnga3 |
A |
G |
1: 37,300,159 (GRCm39) |
Y331C |
probably damaging |
Het |
Cntln |
T |
A |
4: 84,875,504 (GRCm39) |
S313T |
probably benign |
Het |
Ddx54 |
T |
A |
5: 120,756,694 (GRCm39) |
D134E |
probably damaging |
Het |
Dennd4c |
A |
G |
4: 86,699,881 (GRCm39) |
D244G |
possibly damaging |
Het |
Dsg3 |
A |
T |
18: 20,658,282 (GRCm39) |
T298S |
possibly damaging |
Het |
Dusp1 |
A |
T |
17: 26,726,679 (GRCm39) |
F128I |
probably damaging |
Het |
Fam83g |
T |
A |
11: 61,594,304 (GRCm39) |
S613T |
probably damaging |
Het |
Gm10608 |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
9: 118,989,784 (GRCm39) |
|
probably benign |
Het |
Grep1 |
A |
G |
17: 23,934,785 (GRCm39) |
F149S |
possibly damaging |
Het |
Ighv8-12 |
C |
T |
12: 115,611,570 (GRCm39) |
R118Q |
probably benign |
Het |
Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
Mrgprb5 |
T |
A |
7: 47,818,317 (GRCm39) |
R139S |
probably damaging |
Het |
Or51b6 |
T |
C |
7: 103,556,519 (GRCm39) |
V291A |
probably benign |
Het |
Pcbp1 |
C |
T |
6: 86,502,471 (GRCm39) |
E143K |
probably damaging |
Het |
Plxna1 |
A |
G |
6: 89,319,590 (GRCm39) |
S572P |
probably damaging |
Het |
Serpina3n |
C |
T |
12: 104,375,333 (GRCm39) |
T135M |
probably benign |
Het |
Spink11 |
A |
T |
18: 44,328,777 (GRCm39) |
F24I |
possibly damaging |
Het |
Tes |
A |
G |
6: 17,096,233 (GRCm39) |
T74A |
probably benign |
Het |
Vipas39 |
T |
C |
12: 87,289,345 (GRCm39) |
N373S |
probably benign |
Het |
|
Other mutations in Wdr75 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00467:Wdr75
|
APN |
1 |
45,841,235 (GRCm39) |
missense |
probably benign |
0.02 |
IGL00711:Wdr75
|
APN |
1 |
45,862,541 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01350:Wdr75
|
APN |
1 |
45,857,420 (GRCm39) |
nonsense |
probably null |
|
IGL02135:Wdr75
|
APN |
1 |
45,856,608 (GRCm39) |
splice site |
probably null |
|
IGL02135:Wdr75
|
APN |
1 |
45,853,723 (GRCm39) |
missense |
probably damaging |
1.00 |
BB008:Wdr75
|
UTSW |
1 |
45,858,795 (GRCm39) |
missense |
probably benign |
0.00 |
BB018:Wdr75
|
UTSW |
1 |
45,858,795 (GRCm39) |
missense |
probably benign |
0.00 |
FR4976:Wdr75
|
UTSW |
1 |
45,862,564 (GRCm39) |
utr 3 prime |
probably benign |
|
PIT4378001:Wdr75
|
UTSW |
1 |
45,859,333 (GRCm39) |
missense |
probably damaging |
0.98 |
R0060:Wdr75
|
UTSW |
1 |
45,855,777 (GRCm39) |
missense |
probably benign |
0.16 |
R0463:Wdr75
|
UTSW |
1 |
45,858,762 (GRCm39) |
missense |
probably damaging |
1.00 |
R0963:Wdr75
|
UTSW |
1 |
45,856,470 (GRCm39) |
missense |
probably benign |
0.07 |
R1364:Wdr75
|
UTSW |
1 |
45,838,222 (GRCm39) |
missense |
probably benign |
0.01 |
R1382:Wdr75
|
UTSW |
1 |
45,856,471 (GRCm39) |
missense |
probably damaging |
1.00 |
R1562:Wdr75
|
UTSW |
1 |
45,843,030 (GRCm39) |
splice site |
probably null |
|
R1909:Wdr75
|
UTSW |
1 |
45,862,563 (GRCm39) |
missense |
probably benign |
0.00 |
R3972:Wdr75
|
UTSW |
1 |
45,861,714 (GRCm39) |
missense |
probably benign |
0.01 |
R4372:Wdr75
|
UTSW |
1 |
45,845,833 (GRCm39) |
unclassified |
probably benign |
|
R4720:Wdr75
|
UTSW |
1 |
45,861,645 (GRCm39) |
missense |
probably benign |
0.05 |
R4922:Wdr75
|
UTSW |
1 |
45,855,638 (GRCm39) |
missense |
probably damaging |
1.00 |
R5201:Wdr75
|
UTSW |
1 |
45,862,519 (GRCm39) |
missense |
probably benign |
0.00 |
R5242:Wdr75
|
UTSW |
1 |
45,856,487 (GRCm39) |
nonsense |
probably null |
|
R5255:Wdr75
|
UTSW |
1 |
45,838,277 (GRCm39) |
missense |
probably damaging |
1.00 |
R5320:Wdr75
|
UTSW |
1 |
45,838,211 (GRCm39) |
missense |
probably damaging |
0.96 |
R5450:Wdr75
|
UTSW |
1 |
45,851,324 (GRCm39) |
missense |
probably benign |
0.26 |
R6072:Wdr75
|
UTSW |
1 |
45,838,211 (GRCm39) |
missense |
probably damaging |
0.96 |
R6147:Wdr75
|
UTSW |
1 |
45,858,698 (GRCm39) |
missense |
probably benign |
0.00 |
R6341:Wdr75
|
UTSW |
1 |
45,841,291 (GRCm39) |
critical splice donor site |
probably null |
|
R6629:Wdr75
|
UTSW |
1 |
45,851,216 (GRCm39) |
missense |
probably damaging |
1.00 |
R6646:Wdr75
|
UTSW |
1 |
45,838,247 (GRCm39) |
missense |
probably damaging |
1.00 |
R6722:Wdr75
|
UTSW |
1 |
45,844,512 (GRCm39) |
splice site |
probably null |
|
R6750:Wdr75
|
UTSW |
1 |
45,856,539 (GRCm39) |
missense |
probably damaging |
1.00 |
R6850:Wdr75
|
UTSW |
1 |
45,853,758 (GRCm39) |
missense |
probably benign |
0.00 |
R6851:Wdr75
|
UTSW |
1 |
45,862,587 (GRCm39) |
missense |
probably benign |
|
R7172:Wdr75
|
UTSW |
1 |
45,838,294 (GRCm39) |
missense |
probably damaging |
1.00 |
R7248:Wdr75
|
UTSW |
1 |
45,856,560 (GRCm39) |
missense |
probably damaging |
1.00 |
R7809:Wdr75
|
UTSW |
1 |
45,862,596 (GRCm39) |
missense |
probably benign |
0.00 |
R7931:Wdr75
|
UTSW |
1 |
45,858,795 (GRCm39) |
missense |
probably benign |
0.00 |
R7937:Wdr75
|
UTSW |
1 |
45,858,799 (GRCm39) |
missense |
probably benign |
0.17 |
R8171:Wdr75
|
UTSW |
1 |
45,861,706 (GRCm39) |
missense |
probably benign |
0.00 |
R8218:Wdr75
|
UTSW |
1 |
45,857,342 (GRCm39) |
missense |
probably damaging |
1.00 |
R8724:Wdr75
|
UTSW |
1 |
45,856,560 (GRCm39) |
missense |
probably damaging |
1.00 |
R8900:Wdr75
|
UTSW |
1 |
45,838,287 (GRCm39) |
missense |
probably damaging |
0.99 |
R9400:Wdr75
|
UTSW |
1 |
45,843,064 (GRCm39) |
missense |
probably damaging |
1.00 |
R9665:Wdr75
|
UTSW |
1 |
45,843,013 (GRCm39) |
missense |
unknown |
|
|
Predicted Primers |
PCR Primer
(F):5'- AACAGTTGTGGGGAATCTGG -3'
(R):5'- ACGGGTTACAGCTTCTCAAC -3'
Sequencing Primer
(F):5'- CAGTTGTGGGGAATCTGGGATTTTG -3'
(R):5'- ACGGGTTACAGCTTCTCAACATTTTG -3'
|
Posted On |
2015-02-05 |