Incidental Mutation 'IGL00479:Wdr48'
| ID |
6130 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Wdr48
|
| Ensembl Gene |
ENSMUSG00000032512 |
| Gene Name |
WD repeat domain 48 |
| Synonyms |
Uaf1, 8430408H12Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL00479
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
119723961-119755652 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 119734456 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 125
(Y125C)
|
| 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: Y125C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000042509
Gene: ENSMUSG00000032512
AA Change: Y125C
| 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: Y125C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000217472
AA Change: Y125C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agrn |
A |
C |
4: 156,255,029 (GRCm39) |
|
probably benign |
Het |
| Antkmt |
A |
G |
17: 26,010,418 (GRCm39) |
Y104H |
probably damaging |
Het |
| Arid4a |
A |
G |
12: 71,119,367 (GRCm39) |
K651E |
probably damaging |
Het |
| Atpaf2 |
A |
T |
11: 60,300,410 (GRCm39) |
|
probably null |
Het |
| Cd177 |
G |
T |
7: 24,457,440 (GRCm39) |
S200R |
probably benign |
Het |
| Cd209g |
A |
T |
8: 4,185,622 (GRCm39) |
T19S |
probably benign |
Het |
| Cxcr4 |
A |
G |
1: 128,516,792 (GRCm39) |
W290R |
probably damaging |
Het |
| D930020B18Rik |
T |
C |
10: 121,521,489 (GRCm39) |
L491P |
probably damaging |
Het |
| Dnah7a |
T |
C |
1: 53,458,843 (GRCm39) |
D3765G |
probably damaging |
Het |
| Dpy19l4 |
T |
G |
4: 11,290,411 (GRCm39) |
M327L |
probably benign |
Het |
| Eya3 |
G |
A |
4: 132,431,709 (GRCm39) |
G314D |
probably damaging |
Het |
| Fmo1 |
G |
A |
1: 162,657,632 (GRCm39) |
T503I |
probably benign |
Het |
| Galnt3 |
A |
G |
2: 65,925,628 (GRCm39) |
S370P |
probably damaging |
Het |
| Gm5431 |
A |
T |
11: 48,786,241 (GRCm39) |
S45T |
probably benign |
Het |
| Gnai3 |
A |
G |
3: 108,023,073 (GRCm39) |
|
probably benign |
Het |
| Gpat2 |
A |
G |
2: 127,276,381 (GRCm39) |
E637G |
probably damaging |
Het |
| Gpr84 |
T |
C |
15: 103,217,834 (GRCm39) |
Y81C |
probably damaging |
Het |
| Hnmt |
A |
T |
2: 23,893,896 (GRCm39) |
Y199* |
probably null |
Het |
| Homer1 |
G |
T |
13: 93,483,156 (GRCm39) |
R81L |
probably damaging |
Het |
| Hspa4 |
A |
T |
11: 53,171,544 (GRCm39) |
|
probably null |
Het |
| Marchf6 |
A |
G |
15: 31,475,909 (GRCm39) |
I649T |
probably benign |
Het |
| Mcm8 |
A |
G |
2: 132,659,094 (GRCm39) |
N26S |
probably benign |
Het |
| Mgat5 |
T |
C |
1: 127,315,204 (GRCm39) |
L310P |
probably damaging |
Het |
| Pah |
T |
C |
10: 87,414,755 (GRCm39) |
L369P |
probably benign |
Het |
| Parp4 |
A |
C |
14: 56,853,917 (GRCm39) |
K844N |
possibly damaging |
Het |
| Tlr5 |
A |
G |
1: 182,801,394 (GRCm39) |
T233A |
probably benign |
Het |
| Tsnaxip1 |
A |
G |
8: 106,568,055 (GRCm39) |
T274A |
probably benign |
Het |
|
| Other mutations in Wdr48 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
|
|
| Posted On |
2012-04-20 |
Incidental Mutation