Incidental Mutation 'R6646:Wdr75'
| ID |
527960 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Wdr75
|
| Ensembl Gene |
ENSMUSG00000025995 |
| Gene Name |
WD repeat domain 75 |
| Synonyms |
1300003A18Rik, 2410118I19Rik |
| MMRRC Submission |
044767-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.954)
|
| Stock # |
R6646 (G1)
|
| Quality Score |
190.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
45834326-45862779 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 45838247 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 52
(L52Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117363
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027139]
[ENSMUST00000147308]
|
| AlphaFold |
Q3U821 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000027139
AA Change: L52Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000027139
Gene: ENSMUSG00000025995
AA Change: L52Q
| 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 damaging
Transcript: ENSMUST00000147308
AA Change: L52Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000117363
Gene: ENSMUSG00000025995
AA Change: L52Q
| 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
|
| Meta Mutation Damage Score |
0.9260 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.4%
|
| Validation Efficiency |
100% (41/41) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ada |
G |
T |
2: 163,577,343 (GRCm39) |
N48K |
probably benign |
Het |
| Aldh1a7 |
C |
T |
19: 20,677,275 (GRCm39) |
A449T |
possibly damaging |
Het |
| Arhgef28 |
A |
G |
13: 98,076,002 (GRCm39) |
V1344A |
probably benign |
Het |
| Carmil3 |
A |
T |
14: 55,745,387 (GRCm39) |
E1371D |
probably damaging |
Het |
| Crebbp |
C |
T |
16: 3,937,670 (GRCm39) |
A698T |
possibly damaging |
Het |
| Dedd2 |
T |
C |
7: 24,903,038 (GRCm39) |
D307G |
probably damaging |
Het |
| Dennd6b |
G |
T |
15: 89,070,387 (GRCm39) |
F427L |
probably damaging |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Homo |
| Doc2a |
G |
A |
7: 126,450,791 (GRCm39) |
|
probably null |
Het |
| Dst |
A |
G |
1: 34,307,888 (GRCm39) |
T6503A |
possibly damaging |
Het |
| Ehmt1 |
A |
T |
2: 24,696,322 (GRCm39) |
I922K |
probably damaging |
Het |
| Gbp9 |
A |
G |
5: 105,230,769 (GRCm39) |
I385T |
probably benign |
Het |
| Gipc2 |
A |
T |
3: 151,799,838 (GRCm39) |
D297E |
possibly damaging |
Het |
| Krt6b |
T |
A |
15: 101,585,649 (GRCm39) |
Q428L |
probably damaging |
Het |
| Loxl4 |
T |
C |
19: 42,587,220 (GRCm39) |
D625G |
probably damaging |
Het |
| Lrrn2 |
C |
T |
1: 132,866,794 (GRCm39) |
P620S |
probably benign |
Het |
| Msh6 |
T |
C |
17: 88,293,870 (GRCm39) |
V875A |
possibly damaging |
Het |
| Nebl |
T |
C |
2: 17,381,496 (GRCm39) |
T727A |
probably damaging |
Het |
| Obscn |
T |
C |
11: 58,973,544 (GRCm39) |
D1929G |
possibly damaging |
Het |
| Pard3b |
T |
C |
1: 62,200,280 (GRCm39) |
V273A |
probably benign |
Het |
| Pcdhb7 |
T |
A |
18: 37,477,027 (GRCm39) |
V721E |
possibly damaging |
Het |
| Plaa |
A |
T |
4: 94,478,215 (GRCm39) |
H82Q |
probably benign |
Het |
| Plcd1 |
T |
A |
9: 118,904,100 (GRCm39) |
Y278F |
probably damaging |
Het |
| Plxnb1 |
C |
A |
9: 108,937,895 (GRCm39) |
H1214N |
probably benign |
Het |
| Ptprg |
C |
A |
14: 11,962,714 (GRCm38) |
P171T |
probably damaging |
Het |
| Rela |
T |
G |
19: 5,697,132 (GRCm39) |
D446E |
probably damaging |
Het |
| Rpap1 |
T |
C |
2: 119,610,612 (GRCm39) |
I156V |
probably benign |
Het |
| Rpl15 |
T |
C |
14: 18,270,040 (GRCm38) |
Y59C |
probably damaging |
Het |
| Scx |
C |
A |
15: 76,342,121 (GRCm39) |
T107N |
probably damaging |
Het |
| Skint5 |
T |
A |
4: 113,797,974 (GRCm39) |
K203I |
possibly damaging |
Het |
| Slc16a6 |
C |
T |
11: 109,343,988 (GRCm39) |
M518I |
probably benign |
Het |
| Sorbs1 |
C |
T |
19: 40,313,993 (GRCm39) |
G940R |
probably damaging |
Het |
| Spata31h1 |
T |
A |
10: 82,132,664 (GRCm39) |
E115D |
unknown |
Het |
| Synm |
A |
T |
7: 67,384,875 (GRCm39) |
I487K |
probably damaging |
Het |
| Tcerg1l |
A |
T |
7: 137,996,912 (GRCm39) |
|
probably null |
Het |
| Vmn2r99 |
T |
G |
17: 19,600,293 (GRCm39) |
L439R |
probably damaging |
Het |
| Zswim2 |
T |
A |
2: 83,746,128 (GRCm39) |
R437* |
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 |
|
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'- CGTCTCATATCCTCATATGGTTGAC -3'
(R):5'- CCATGGGCAGTGTAGTTCTAG -3'
Sequencing Primer
(F):5'- CATTACAGATGGTTGTGAGCCACC -3'
(R):5'- CAGTGTAGTTCTAGGCTATGGACCTC -3'
|
| Posted On |
2018-07-24 |
Incidental Mutation