Incidental Mutation 'R3719:Wdr48'
| ID |
258825 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Wdr48
|
| Ensembl Gene |
ENSMUSG00000032512 |
| Gene Name |
WD repeat domain 48 |
| Synonyms |
Uaf1, 8430408H12Rik |
| MMRRC Submission |
042001-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3719 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
119723961-119755652 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 119736197 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Phenylalanine
at position 162
(S162F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150321
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036561]
[ENSMUST00000177637]
[ENSMUST00000215167]
[ENSMUST00000215307]
[ENSMUST00000217472]
|
| AlphaFold |
Q8BH57 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000036561
AA Change: S162F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000042509
Gene: ENSMUSG00000032512
AA Change: S162F
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
14 |
58 |
2.88e-1 |
SMART |
|
WD40
|
64 |
103 |
2.1e-7 |
SMART |
|
WD40
|
106 |
145 |
1.37e-6 |
SMART |
|
WD40
|
157 |
196 |
5.39e-5 |
SMART |
|
WD40
|
199 |
238 |
1.62e-8 |
SMART |
|
WD40
|
241 |
280 |
4.62e-4 |
SMART |
|
WD40
|
350 |
388 |
8.84e1 |
SMART |
|
low complexity region
|
460 |
471 |
N/A |
INTRINSIC |
|
Pfam:DUF3337
|
509 |
673 |
1.1e-49 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177637
|
| SMART Domains |
Protein: ENSMUSP00000136413
Gene: ENSMUSG00000052336
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
49 |
294 |
3.5e-50 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000214716
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215167
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000215307
AA Change: S162F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000217472
AA Change: S162F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Meta Mutation Damage Score |
0.1283 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 94.7%
|
| Validation Efficiency |
97% (35/36) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene has been shown to interact with ubiquitin specific peptidase 1 (USP1), activating the deubiquitinating activity of USP1 and allowing it to remove the ubiquitin moiety from monoubiquitinated FANCD2. FANCD2 is ubiquitinated in response to DNA damage. [provided by RefSeq, Sep 2016]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit embryonic lethality prior to E10.5 with reduced embryonic growth. Mice heterozygous for this allele exhibit reduced weight at birth, skeletal defects and reduced female and male fertility. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts20 |
G |
A |
15: 94,259,719 (GRCm39) |
R327C |
probably damaging |
Het |
| Atxn2l |
G |
A |
7: 126,097,302 (GRCm39) |
R335W |
probably damaging |
Het |
| Blk |
A |
G |
14: 63,621,451 (GRCm39) |
S93P |
probably damaging |
Het |
| Cdk11b |
A |
G |
4: 155,711,343 (GRCm39) |
D75G |
probably damaging |
Het |
| Chpf2 |
C |
T |
5: 24,795,310 (GRCm39) |
Q278* |
probably null |
Het |
| Cypt14-ps |
C |
T |
X: 38,952,128 (GRCm39) |
G52E |
probably damaging |
Het |
| Defb18 |
A |
G |
1: 18,306,813 (GRCm39) |
S48P |
possibly damaging |
Het |
| Dync2h1 |
A |
G |
9: 7,006,882 (GRCm39) |
|
probably benign |
Het |
| Ero1b |
T |
G |
13: 12,598,493 (GRCm39) |
|
probably null |
Het |
| Gcn1 |
T |
C |
5: 115,717,876 (GRCm39) |
S254P |
probably benign |
Het |
| Hivep1 |
T |
C |
13: 42,311,203 (GRCm39) |
S1148P |
probably benign |
Het |
| Kdm3b |
C |
T |
18: 34,941,724 (GRCm39) |
A405V |
probably damaging |
Het |
| Mcm7 |
G |
A |
5: 138,164,976 (GRCm39) |
Q550* |
probably null |
Het |
| Or9m1 |
G |
A |
2: 87,733,447 (GRCm39) |
T191I |
probably benign |
Het |
| Pcdh7 |
A |
G |
5: 58,286,374 (GRCm39) |
E1150G |
probably damaging |
Het |
| Pcdhac2 |
A |
G |
18: 37,279,288 (GRCm39) |
Y756C |
possibly damaging |
Het |
| Pclo |
A |
G |
5: 14,571,175 (GRCm39) |
T187A |
probably benign |
Het |
| Rbms3 |
C |
T |
9: 116,411,930 (GRCm39) |
V421I |
probably benign |
Het |
| Selenbp2 |
T |
C |
3: 94,606,924 (GRCm39) |
F190S |
probably damaging |
Het |
| Sema6a |
G |
A |
18: 47,382,144 (GRCm39) |
T801M |
probably damaging |
Het |
| Slc16a10 |
G |
C |
10: 39,932,620 (GRCm39) |
H314D |
possibly damaging |
Het |
| Spen |
G |
T |
4: 141,244,494 (GRCm39) |
H180Q |
unknown |
Het |
| Tenm4 |
A |
G |
7: 96,512,770 (GRCm39) |
K1339R |
possibly damaging |
Het |
| Trim30a |
C |
A |
7: 104,060,370 (GRCm39) |
D469Y |
probably benign |
Het |
| Trpm3 |
G |
A |
19: 22,964,354 (GRCm39) |
R1283H |
possibly damaging |
Het |
| Trpm6 |
A |
T |
19: 18,749,757 (GRCm39) |
R29* |
probably null |
Het |
| Ttc17 |
A |
G |
2: 94,194,672 (GRCm39) |
V567A |
probably benign |
Het |
| Vmn2r101 |
A |
G |
17: 19,809,811 (GRCm39) |
Y199C |
possibly damaging |
Het |
| Vmn2r73 |
A |
T |
7: 85,519,582 (GRCm39) |
Y459N |
probably damaging |
Het |
| Vmn2r79 |
A |
G |
7: 86,651,245 (GRCm39) |
I215V |
probably benign |
Het |
|
| Other mutations in Wdr48 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00479:Wdr48
|
APN |
9 |
119,734,456 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02005:Wdr48
|
APN |
9 |
119,734,455 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02097:Wdr48
|
APN |
9 |
119,753,329 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02217:Wdr48
|
APN |
9 |
119,738,601 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02416:Wdr48
|
APN |
9 |
119,753,826 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03198:Wdr48
|
APN |
9 |
119,741,479 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0005:Wdr48
|
UTSW |
9 |
119,738,500 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0109:Wdr48
|
UTSW |
9 |
119,747,634 (GRCm39) |
splice site |
probably benign |
|
|
R1753:Wdr48
|
UTSW |
9 |
119,753,313 (GRCm39) |
nonsense |
probably null |
|
|
R1829:Wdr48
|
UTSW |
9 |
119,733,396 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1837:Wdr48
|
UTSW |
9 |
119,734,482 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1881:Wdr48
|
UTSW |
9 |
119,738,606 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1916:Wdr48
|
UTSW |
9 |
119,741,483 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2039:Wdr48
|
UTSW |
9 |
119,738,453 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2421:Wdr48
|
UTSW |
9 |
119,731,470 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3031:Wdr48
|
UTSW |
9 |
119,753,176 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6014:Wdr48
|
UTSW |
9 |
119,753,775 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6054:Wdr48
|
UTSW |
9 |
119,736,843 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6182:Wdr48
|
UTSW |
9 |
119,753,832 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6285:Wdr48
|
UTSW |
9 |
119,749,676 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6434:Wdr48
|
UTSW |
9 |
119,745,879 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7167:Wdr48
|
UTSW |
9 |
119,736,855 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7282:Wdr48
|
UTSW |
9 |
119,740,147 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7567:Wdr48
|
UTSW |
9 |
119,745,894 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R7912:Wdr48
|
UTSW |
9 |
119,733,405 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8373:Wdr48
|
UTSW |
9 |
119,734,560 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8932:Wdr48
|
UTSW |
9 |
119,740,142 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9183:Wdr48
|
UTSW |
9 |
119,749,730 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R9390:Wdr48
|
UTSW |
9 |
119,746,245 (GRCm39) |
missense |
probably benign |
|
|
R9567:Wdr48
|
UTSW |
9 |
119,741,454 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGCACTTGCACATACTCAATTTCAG -3'
(R):5'- ACTCACTAGACAAAATGACTGGTG -3'
Sequencing Primer
(F):5'- AAACCCACTAATTTTGGTGATACTG -3'
(R):5'- TGCTGAGACTCTGCATGC -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation