Incidental Mutation 'R0963:Wdr75'
ID |
81336 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Wdr75
|
Ensembl Gene |
ENSMUSG00000025995 |
Gene Name |
WD repeat domain 75 |
Synonyms |
1300003A18Rik, 2410118I19Rik |
MMRRC Submission |
039092-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.944)
|
Stock # |
R0963 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
45834326-45862779 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 45856470 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 498
(Y498H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000027139
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027139]
|
AlphaFold |
Q3U821 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000027139
AA Change: Y498H
PolyPhen 2
Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000027139 Gene: ENSMUSG00000025995 AA Change: Y498H
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: 99.4%
- 3x: 98.8%
- 10x: 97.1%
- 20x: 94.3%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adarb2 |
A |
G |
13: 8,722,451 (GRCm39) |
D369G |
probably damaging |
Het |
Adcy7 |
T |
C |
8: 89,038,893 (GRCm39) |
V303A |
probably damaging |
Het |
Afap1l1 |
A |
T |
18: 61,870,001 (GRCm39) |
Y610N |
probably damaging |
Het |
Agr3 |
T |
A |
12: 35,984,433 (GRCm39) |
H53Q |
probably benign |
Het |
Akr1d1 |
A |
G |
6: 37,507,209 (GRCm39) |
I10M |
probably damaging |
Het |
Atp4b |
G |
T |
8: 13,440,014 (GRCm39) |
H111N |
probably benign |
Het |
Bbs7 |
G |
T |
3: 36,667,412 (GRCm39) |
A8E |
probably benign |
Het |
Bsn |
C |
T |
9: 107,989,006 (GRCm39) |
V2249M |
possibly damaging |
Het |
Cpt1a |
T |
C |
19: 3,431,634 (GRCm39) |
S685P |
probably damaging |
Het |
Dhx57 |
A |
T |
17: 80,582,956 (GRCm39) |
H163Q |
probably benign |
Het |
Duox2 |
A |
C |
2: 122,117,653 (GRCm39) |
C894G |
probably benign |
Het |
Ecm1 |
T |
C |
3: 95,643,900 (GRCm39) |
T209A |
possibly damaging |
Het |
Glo1 |
T |
C |
17: 30,819,085 (GRCm39) |
N79S |
probably benign |
Het |
Htra1 |
T |
A |
7: 130,584,009 (GRCm39) |
M388K |
possibly damaging |
Het |
Iqca1 |
C |
A |
1: 90,070,453 (GRCm39) |
G133V |
probably null |
Het |
Jag2 |
C |
T |
12: 112,878,934 (GRCm39) |
E496K |
probably damaging |
Het |
Kcnh2 |
C |
T |
5: 24,527,670 (GRCm39) |
R894H |
probably damaging |
Het |
Khdc1c |
A |
G |
1: 21,439,833 (GRCm39) |
N128S |
probably benign |
Het |
Lamc1 |
T |
C |
1: 153,119,132 (GRCm39) |
N829S |
probably benign |
Het |
Leprotl1 |
T |
C |
8: 34,606,189 (GRCm39) |
Y33C |
probably damaging |
Het |
Lypd11 |
A |
T |
7: 24,423,047 (GRCm39) |
D90E |
probably benign |
Het |
Map3k3 |
T |
A |
11: 106,014,618 (GRCm39) |
S130T |
probably benign |
Het |
Mip |
C |
T |
10: 128,061,854 (GRCm39) |
A35V |
probably benign |
Het |
Ms4a19 |
T |
C |
19: 11,118,921 (GRCm39) |
T63A |
possibly damaging |
Het |
Myh15 |
A |
G |
16: 48,952,512 (GRCm39) |
R861G |
probably damaging |
Het |
Myom1 |
A |
C |
17: 71,384,762 (GRCm39) |
I718L |
possibly damaging |
Het |
Naip6 |
C |
T |
13: 100,452,983 (GRCm39) |
R26H |
probably benign |
Het |
Or52e4 |
G |
A |
7: 104,706,179 (GRCm39) |
C242Y |
probably damaging |
Het |
Pde6b |
A |
G |
5: 108,578,534 (GRCm39) |
E824G |
probably benign |
Het |
Pramel24 |
T |
A |
4: 143,453,678 (GRCm39) |
I262N |
possibly damaging |
Het |
Rbm19 |
T |
G |
5: 120,268,799 (GRCm39) |
S476A |
possibly damaging |
Het |
Rpl39l |
T |
A |
16: 9,992,162 (GRCm39) |
|
probably null |
Het |
Sec24b |
A |
G |
3: 129,834,554 (GRCm39) |
S79P |
probably benign |
Het |
Slc15a2 |
G |
A |
16: 36,594,935 (GRCm39) |
A146V |
probably damaging |
Het |
Slmap |
T |
C |
14: 26,189,675 (GRCm39) |
Y161C |
probably damaging |
Het |
Smc4 |
T |
A |
3: 68,933,259 (GRCm39) |
C652S |
probably damaging |
Het |
Stab1 |
A |
G |
14: 30,869,231 (GRCm39) |
I1499T |
probably damaging |
Het |
Tnnt1 |
A |
G |
7: 4,510,594 (GRCm39) |
L209P |
probably damaging |
Het |
Trim52 |
T |
G |
14: 106,344,973 (GRCm39) |
S210R |
probably benign |
Het |
Tsc22d1 |
T |
A |
14: 76,656,039 (GRCm39) |
N82K |
possibly damaging |
Het |
Zfp955a |
C |
T |
17: 33,462,726 (GRCm39) |
S56N |
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 |
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 |
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 |
2013-11-07 |