Incidental Mutation 'R1382:Wdr75'
| ID |
163074 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Wdr75
|
| Ensembl Gene |
ENSMUSG00000025995 |
| Gene Name |
WD repeat domain 75 |
| Synonyms |
1300003A18Rik, 2410118I19Rik |
| MMRRC Submission |
039444-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.954)
|
| Stock # |
R1382 (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 45856471 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 498
(Y498C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027139
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027139]
|
| AlphaFold |
Q3U821 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000027139
AA Change: Y498C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000027139
Gene: ENSMUSG00000025995
AA Change: Y498C
| 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: 98.9%
- 3x: 97.9%
- 10x: 95.0%
- 20x: 88.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ago2 |
C |
T |
15: 72,998,889 (GRCm39) |
C236Y |
probably benign |
Het |
| Arhgef6 |
T |
C |
X: 56,383,922 (GRCm39) |
M5V |
probably benign |
Het |
| Asap2 |
A |
G |
12: 21,315,955 (GRCm39) |
T916A |
probably damaging |
Het |
| Ceacam5 |
T |
C |
7: 17,486,090 (GRCm39) |
V529A |
probably benign |
Het |
| Cep192 |
G |
A |
18: 67,989,370 (GRCm39) |
R1839Q |
possibly damaging |
Het |
| Cope |
A |
G |
8: 70,765,513 (GRCm39) |
N295S |
probably benign |
Het |
| Crocc2 |
G |
A |
1: 93,144,815 (GRCm39) |
|
probably null |
Het |
| Cuedc1 |
C |
T |
11: 88,068,189 (GRCm39) |
P146S |
probably benign |
Het |
| Ddc |
T |
C |
11: 11,774,856 (GRCm39) |
D345G |
possibly damaging |
Het |
| Dsg4 |
T |
A |
18: 20,598,181 (GRCm39) |
C700S |
probably benign |
Het |
| Dst |
A |
T |
1: 34,307,914 (GRCm39) |
E6224D |
probably damaging |
Het |
| Exo1 |
A |
G |
1: 175,721,362 (GRCm39) |
T334A |
probably damaging |
Het |
| Gjb3 |
G |
A |
4: 127,220,224 (GRCm39) |
R103W |
probably damaging |
Het |
| Glyr1 |
GCTGCC |
G |
16: 4,839,209 (GRCm39) |
|
probably null |
Het |
| Gtf3c3 |
C |
T |
1: 54,456,937 (GRCm39) |
A488T |
probably damaging |
Het |
| Lemd3 |
A |
T |
10: 120,767,641 (GRCm39) |
I711K |
probably damaging |
Het |
| Lrrc8b |
A |
G |
5: 105,628,749 (GRCm39) |
D365G |
probably damaging |
Het |
| Mdga2 |
A |
T |
12: 66,517,690 (GRCm39) |
I48K |
possibly damaging |
Het |
| Or51q1c |
G |
T |
7: 103,652,927 (GRCm39) |
L148F |
probably benign |
Het |
| Pate7 |
T |
A |
9: 35,689,390 (GRCm39) |
|
probably benign |
Het |
| Pdzph1 |
A |
G |
17: 59,281,742 (GRCm39) |
V180A |
probably benign |
Het |
| Phactr1 |
T |
C |
13: 43,286,451 (GRCm39) |
F584S |
probably damaging |
Het |
| Ppan |
A |
G |
9: 20,803,214 (GRCm39) |
K429E |
probably benign |
Het |
| Prkd3 |
A |
G |
17: 79,264,674 (GRCm39) |
V647A |
probably damaging |
Het |
| Prl2c2 |
G |
C |
13: 13,176,786 (GRCm39) |
T47R |
probably damaging |
Het |
| Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
| Ptpru |
A |
G |
4: 131,535,540 (GRCm39) |
F407S |
probably damaging |
Het |
| Rab3gap1 |
A |
T |
1: 127,870,333 (GRCm39) |
T985S |
probably damaging |
Het |
| Slc5a2 |
G |
C |
7: 127,869,803 (GRCm39) |
R412P |
probably damaging |
Het |
| Sned1 |
G |
A |
1: 93,209,376 (GRCm39) |
V830M |
possibly damaging |
Het |
| Tet2 |
C |
T |
3: 133,182,376 (GRCm39) |
G1196D |
probably damaging |
Het |
| Tub |
G |
A |
7: 108,629,360 (GRCm39) |
V426I |
probably damaging |
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 |
|
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 |
|
R2968:Wdr75
|
UTSW |
1 |
45,856,501 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- TGCAGCATAAAGGGTTCCTGCC -3'
(R):5'- AACTCACGGGTTACAGCTTCTCAAC -3'
Sequencing Primer
(F):5'- TTCTCCTCCACTAGAGGGAGC -3'
(R):5'- GGGTTACAGCTTCTCAACATTTTG -3'
|
| Posted On |
2014-03-17 |
Incidental Mutation