Incidental Mutation 'R2039:Wdr48'
| ID |
225433 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Wdr48
|
| Ensembl Gene |
ENSMUSG00000032512 |
| Gene Name |
WD repeat domain 48 |
| Synonyms |
Uaf1, 8430408H12Rik |
| MMRRC Submission |
040046-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2039 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
119723961-119755652 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 119738453 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Arginine
at position 38
(W38R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149793
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036561]
[ENSMUST00000177637]
[ENSMUST00000215167]
[ENSMUST00000215307]
[ENSMUST00000217472]
|
| AlphaFold |
Q8BH57 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000036561
AA Change: W237R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000042509
Gene: ENSMUSG00000032512
AA Change: W237R
| 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: ENSMUST00000213230
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000215167
AA Change: W38R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000215307
AA Change: W237R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000217472
AA Change: W237R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217555
|
| Meta Mutation Damage Score |
0.9744 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.9%
|
| Validation Efficiency |
96% (45/47) |
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
C |
A |
6: 121,636,908 (GRCm39) |
T757K |
probably benign |
Het |
| Abca14 |
T |
C |
7: 119,911,487 (GRCm39) |
V1357A |
probably damaging |
Het |
| Abca5 |
A |
G |
11: 110,190,755 (GRCm39) |
F785S |
probably damaging |
Het |
| Bltp1 |
T |
A |
3: 37,058,027 (GRCm39) |
F3206I |
possibly damaging |
Het |
| Bmal1 |
T |
G |
7: 112,884,319 (GRCm39) |
L119R |
probably damaging |
Het |
| Cacna1h |
T |
C |
17: 25,610,819 (GRCm39) |
I554V |
probably benign |
Het |
| Cuzd1 |
A |
T |
7: 130,916,643 (GRCm39) |
|
probably benign |
Het |
| Cuzd1 |
T |
C |
7: 130,911,345 (GRCm39) |
S545G |
probably benign |
Het |
| Edrf1 |
T |
A |
7: 133,255,678 (GRCm39) |
Y574* |
probably null |
Het |
| Eef1d |
T |
C |
15: 75,767,618 (GRCm39) |
D252G |
probably damaging |
Het |
| Efna5 |
T |
G |
17: 63,188,061 (GRCm39) |
D22A |
probably benign |
Het |
| Esyt1 |
C |
T |
10: 128,347,820 (GRCm39) |
V957I |
probably benign |
Het |
| Etl4 |
T |
C |
2: 20,790,039 (GRCm39) |
S881P |
probably damaging |
Het |
| Exoc3 |
A |
G |
13: 74,341,096 (GRCm39) |
I236T |
probably benign |
Het |
| Far2 |
T |
C |
6: 148,067,075 (GRCm39) |
L320S |
probably benign |
Het |
| Fsd1l |
T |
A |
4: 53,679,972 (GRCm39) |
D223E |
probably benign |
Het |
| Fut1 |
C |
T |
7: 45,268,415 (GRCm39) |
A123V |
possibly damaging |
Het |
| Gap43 |
A |
T |
16: 42,112,715 (GRCm39) |
D15E |
possibly damaging |
Het |
| Gm12789 |
T |
C |
4: 101,846,183 (GRCm39) |
|
probably benign |
Het |
| Gm5114 |
T |
A |
7: 39,058,612 (GRCm39) |
T336S |
probably damaging |
Het |
| Hhla1 |
G |
A |
15: 65,808,226 (GRCm39) |
T273I |
possibly damaging |
Het |
| Hira |
A |
G |
16: 18,770,451 (GRCm39) |
H812R |
probably benign |
Het |
| Hsp90aa1 |
T |
C |
12: 110,660,216 (GRCm39) |
N360S |
probably damaging |
Het |
| Kmt2c |
A |
G |
5: 25,534,038 (GRCm39) |
L1463S |
possibly damaging |
Het |
| Lman2l |
A |
G |
1: 36,467,535 (GRCm39) |
F171S |
probably damaging |
Het |
| Lrfn5 |
T |
C |
12: 61,887,109 (GRCm39) |
L299S |
possibly damaging |
Het |
| Msr1 |
A |
T |
8: 40,042,418 (GRCm39) |
W386R |
probably damaging |
Het |
| Myo1e |
T |
C |
9: 70,227,415 (GRCm39) |
V162A |
possibly damaging |
Het |
| Npy6r |
A |
G |
18: 44,409,070 (GRCm39) |
T164A |
probably benign |
Het |
| Or52e4 |
T |
C |
7: 104,705,597 (GRCm39) |
L48P |
possibly damaging |
Het |
| Rbak |
C |
A |
5: 143,158,930 (GRCm39) |
V708L |
probably benign |
Het |
| Rev3l |
A |
G |
10: 39,700,440 (GRCm39) |
I1646V |
probably damaging |
Het |
| Rsrc1 |
A |
G |
3: 66,901,951 (GRCm39) |
T34A |
unknown |
Het |
| Septin9 |
G |
A |
11: 117,242,443 (GRCm39) |
V53I |
probably damaging |
Het |
| Snrnp200 |
G |
A |
2: 127,076,904 (GRCm39) |
A1646T |
probably benign |
Het |
| Spata31h1 |
A |
G |
10: 82,120,510 (GRCm39) |
S4167P |
probably damaging |
Het |
| Sqor |
G |
A |
2: 122,634,324 (GRCm39) |
|
probably null |
Het |
| St7 |
T |
C |
6: 17,886,111 (GRCm39) |
Y358H |
probably damaging |
Het |
| Tafa1 |
C |
A |
6: 96,631,725 (GRCm39) |
|
probably null |
Het |
| Tas2r126 |
T |
A |
6: 42,411,557 (GRCm39) |
M30K |
probably benign |
Het |
| Thsd7a |
G |
A |
6: 12,408,922 (GRCm39) |
T700I |
possibly damaging |
Het |
| Ttn |
T |
G |
2: 76,698,810 (GRCm39) |
|
probably benign |
Het |
| Ugt1a10 |
T |
G |
1: 87,983,703 (GRCm39) |
I167S |
probably benign |
Het |
| Uhmk1 |
T |
C |
1: 170,039,836 (GRCm39) |
D88G |
probably damaging |
Het |
| Washc2 |
T |
A |
6: 116,201,400 (GRCm39) |
F332Y |
probably damaging |
Het |
| Zfc3h1 |
A |
G |
10: 115,242,388 (GRCm39) |
D622G |
probably damaging |
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 |
|
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 |
|
R3719:Wdr48
|
UTSW |
9 |
119,736,197 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- TTTACAGAACCAGCAGGCAGC -3'
(R):5'- TGCTGTACATACCCAAAGCTC -3'
Sequencing Primer
(F):5'- GCAGGCAGCTGGATAGAG -3'
(R):5'- ACACCTTGAGAACTGGTGC -3'
|
| Posted On |
2014-08-25 |
Incidental Mutation