Incidental Mutation 'R6722:Wdr75'
| ID |
529611 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Wdr75
|
| Ensembl Gene |
ENSMUSG00000025995 |
| Gene Name |
WD repeat domain 75 |
| Synonyms |
1300003A18Rik, 2410118I19Rik |
| MMRRC Submission |
044840-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.954)
|
| Stock # |
R6722 (G1)
|
| Quality Score |
193.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
45834326-45862779 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to A
at 45844512 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027139
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027139]
[ENSMUST00000147308]
|
| AlphaFold |
Q3U821 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000027139
|
| SMART Domains |
Protein: ENSMUSP00000027139
Gene: ENSMUSG00000025995
| 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: ENSMUST00000142145
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143737
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146602
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000147308
|
| SMART Domains |
Protein: ENSMUSP00000117363
Gene: ENSMUSG00000025995
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
4 |
42 |
3.82e1 |
SMART |
|
WD40
|
45 |
85 |
1.25e-9 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154436
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 95.0%
|
| Validation Efficiency |
96% (52/54) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam4 |
T |
G |
12: 81,468,228 (GRCm39) |
D131A |
probably damaging |
Het |
| Ank3 |
T |
C |
10: 69,826,074 (GRCm39) |
|
probably benign |
Het |
| Atp1a4 |
T |
C |
1: 172,085,617 (GRCm39) |
|
probably benign |
Het |
| Bmal2 |
T |
A |
6: 146,720,398 (GRCm39) |
D187E |
probably damaging |
Het |
| Castor2 |
T |
C |
5: 134,164,458 (GRCm39) |
S140P |
probably benign |
Het |
| Ccdc162 |
T |
C |
10: 41,520,637 (GRCm39) |
N673S |
probably benign |
Het |
| Cd84 |
G |
A |
1: 171,700,344 (GRCm39) |
V154M |
probably damaging |
Het |
| Celsr1 |
C |
A |
15: 85,790,115 (GRCm39) |
|
probably null |
Het |
| Cfap57 |
A |
C |
4: 118,441,914 (GRCm39) |
L718R |
probably damaging |
Het |
| Cntnap5b |
G |
A |
1: 100,406,211 (GRCm39) |
V803M |
probably damaging |
Het |
| Col6a2 |
C |
T |
10: 76,450,392 (GRCm39) |
V180I |
probably damaging |
Het |
| Coq4 |
A |
T |
2: 29,678,297 (GRCm39) |
|
probably benign |
Het |
| Cyp2a4 |
A |
G |
7: 26,012,983 (GRCm39) |
T389A |
probably benign |
Het |
| Dennd1c |
T |
C |
17: 57,373,802 (GRCm39) |
D587G |
probably benign |
Het |
| Dnaja4 |
A |
G |
9: 54,607,038 (GRCm39) |
D9G |
probably damaging |
Het |
| Hes2 |
T |
G |
4: 152,244,834 (GRCm39) |
L101R |
probably damaging |
Het |
| Icam2 |
A |
G |
11: 106,273,307 (GRCm39) |
S2P |
probably damaging |
Het |
| Krt31 |
A |
G |
11: 99,939,254 (GRCm39) |
L221P |
probably damaging |
Het |
| Lipm |
A |
T |
19: 34,098,665 (GRCm39) |
N380Y |
probably benign |
Het |
| Lrp2bp |
G |
A |
8: 46,473,600 (GRCm39) |
|
probably null |
Het |
| Mbd2 |
T |
A |
18: 70,713,819 (GRCm39) |
M216K |
probably damaging |
Het |
| Mrps33 |
T |
C |
6: 39,782,599 (GRCm39) |
|
probably benign |
Het |
| Nbeal2 |
T |
C |
9: 110,462,060 (GRCm39) |
D1459G |
probably damaging |
Het |
| Ncapd3 |
T |
C |
9: 26,998,852 (GRCm39) |
S1281P |
probably benign |
Het |
| Nt5c1b |
T |
A |
12: 10,422,874 (GRCm39) |
Y56N |
possibly damaging |
Het |
| Nthl1 |
A |
G |
17: 24,853,008 (GRCm39) |
K71E |
probably benign |
Het |
| Or4f62 |
T |
A |
2: 111,987,227 (GRCm39) |
N310K |
probably benign |
Het |
| Parvb |
C |
T |
15: 84,182,180 (GRCm39) |
R237W |
probably damaging |
Het |
| Pde4a |
G |
A |
9: 21,122,521 (GRCm39) |
A806T |
probably damaging |
Het |
| Pde4d |
C |
A |
13: 109,769,432 (GRCm39) |
S40* |
probably null |
Het |
| Pde4dip |
G |
A |
3: 97,625,555 (GRCm39) |
R1348* |
probably null |
Het |
| Pdx1 |
C |
T |
5: 147,207,310 (GRCm39) |
P88S |
probably damaging |
Het |
| Pnisr |
T |
A |
4: 21,859,165 (GRCm39) |
V120D |
probably damaging |
Het |
| Prss51 |
G |
T |
14: 64,332,508 (GRCm39) |
C65F |
probably damaging |
Het |
| Pus10 |
G |
A |
11: 23,652,975 (GRCm39) |
E195K |
possibly damaging |
Het |
| Pzp |
T |
A |
6: 128,464,917 (GRCm39) |
Q1319L |
probably damaging |
Het |
| Rbpms |
G |
T |
8: 34,324,421 (GRCm39) |
T101K |
probably damaging |
Het |
| Rundc3a |
A |
G |
11: 102,290,775 (GRCm39) |
N281S |
possibly damaging |
Het |
| Scml4 |
C |
T |
10: 42,736,728 (GRCm39) |
|
probably benign |
Het |
| Sez6 |
T |
C |
11: 77,844,528 (GRCm39) |
V117A |
probably damaging |
Het |
| Sgsm2 |
A |
C |
11: 74,756,250 (GRCm39) |
C366W |
probably damaging |
Het |
| Slc12a4 |
T |
C |
8: 106,670,882 (GRCm39) |
|
probably null |
Het |
| Smg5 |
C |
T |
3: 88,260,332 (GRCm39) |
R641C |
probably damaging |
Het |
| Stxbp3 |
A |
G |
3: 108,723,762 (GRCm39) |
Y150H |
probably benign |
Het |
| Thoc2l |
T |
A |
5: 104,668,145 (GRCm39) |
M889K |
probably damaging |
Het |
| Tkt |
T |
C |
14: 30,291,041 (GRCm39) |
F351S |
probably damaging |
Het |
| Tln1 |
A |
G |
4: 43,547,618 (GRCm39) |
L781P |
probably damaging |
Het |
| Triobp |
G |
A |
15: 78,885,765 (GRCm39) |
E1823K |
probably damaging |
Het |
| Ttll4 |
T |
C |
1: 74,720,948 (GRCm39) |
V538A |
possibly damaging |
Het |
| Uba52rt |
A |
G |
4: 3,973,386 (GRCm39) |
Y59H |
probably benign |
Het |
| Vmn1r61 |
T |
A |
7: 5,613,687 (GRCm39) |
N209I |
possibly damaging |
Het |
| Zfp985 |
T |
C |
4: 147,667,528 (GRCm39) |
V132A |
probably benign |
Het |
| Zswim3 |
T |
A |
2: 164,662,544 (GRCm39) |
|
probably null |
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 |
|
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 |
|
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'- TCAGAAGAATGTGTTGAGCTACAG -3'
(R):5'- GAACTTCTACAGGATGGTCCAC -3'
Sequencing Primer
(F):5'- TGACTAAATAGGGAGTGTGCATTC -3'
(R):5'- GGTCCACTTTTTGAAAGAAGACACC -3'
|
| Posted On |
2018-08-01 |
Incidental Mutation