Incidental Mutation 'IGL02416:Wdr48'
| ID |
292447 |
| 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 # |
IGL02416
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
119723961-119755652 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 119753826 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 649
(S649G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149478
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035099]
[ENSMUST00000036561]
[ENSMUST00000177637]
[ENSMUST00000215167]
[ENSMUST00000215307]
[ENSMUST00000217472]
|
| AlphaFold |
Q8BH57 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000035099
|
| SMART Domains |
Protein: ENSMUSP00000035099
Gene: ENSMUSG00000032513
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GRASP55_65
|
2 |
99 |
2.6e-22 |
PFAM |
|
Pfam:GRASP55_65
|
68 |
204 |
4e-60 |
PFAM |
|
low complexity region
|
212 |
224 |
N/A |
INTRINSIC |
|
low complexity region
|
329 |
361 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000036561
AA Change: S663G
PolyPhen 2
Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000042509
Gene: ENSMUSG00000032512
AA Change: S663G
| 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 benign
Transcript: ENSMUST00000215167
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000215307
AA Change: S649G
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216349
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217472
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217492
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217429
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamdec1 |
T |
C |
14: 68,810,282 (GRCm39) |
N227S |
probably null |
Het |
| Adgrf5 |
T |
G |
17: 43,755,871 (GRCm39) |
|
probably null |
Het |
| Arid2 |
G |
A |
15: 96,247,936 (GRCm39) |
G116D |
possibly damaging |
Het |
| Arsa |
T |
A |
15: 89,358,991 (GRCm39) |
H225L |
probably damaging |
Het |
| Atf6 |
T |
A |
1: 170,574,726 (GRCm39) |
K571* |
probably null |
Het |
| Bicdl1 |
A |
C |
5: 115,801,944 (GRCm39) |
L38R |
probably damaging |
Het |
| Cct4 |
T |
C |
11: 22,952,868 (GRCm39) |
S515P |
probably damaging |
Het |
| Celsr3 |
A |
C |
9: 108,709,318 (GRCm39) |
D1388A |
probably damaging |
Het |
| Clca3a2 |
T |
C |
3: 144,790,777 (GRCm39) |
T432A |
probably benign |
Het |
| Des |
T |
A |
1: 75,339,372 (GRCm39) |
|
probably null |
Het |
| Dock11 |
T |
A |
X: 35,283,739 (GRCm39) |
V1119E |
probably damaging |
Het |
| Dysf |
A |
G |
6: 84,169,896 (GRCm39) |
N1763S |
possibly damaging |
Het |
| Emilin1 |
A |
G |
5: 31,075,132 (GRCm39) |
S458G |
possibly damaging |
Het |
| Fhdc1 |
T |
G |
3: 84,352,535 (GRCm39) |
M897L |
probably benign |
Het |
| Foxj1 |
T |
C |
11: 116,222,829 (GRCm39) |
S325G |
probably benign |
Het |
| Gm5407 |
A |
G |
16: 49,117,250 (GRCm39) |
|
noncoding transcript |
Het |
| Gm6576 |
T |
C |
15: 27,026,073 (GRCm39) |
|
noncoding transcript |
Het |
| Hells |
G |
A |
19: 38,953,071 (GRCm39) |
S743N |
probably benign |
Het |
| Ighv2-9-1 |
A |
T |
12: 113,733,731 (GRCm39) |
L30Q |
probably damaging |
Het |
| Iqgap1 |
A |
T |
7: 80,375,786 (GRCm39) |
L1363H |
probably damaging |
Het |
| Lrp2 |
T |
C |
2: 69,299,977 (GRCm39) |
D3025G |
probably damaging |
Het |
| Mef2d |
C |
T |
3: 88,063,809 (GRCm39) |
R79C |
probably damaging |
Het |
| Mical1 |
G |
T |
10: 41,360,806 (GRCm39) |
|
probably null |
Het |
| Micu2 |
A |
T |
14: 58,161,422 (GRCm39) |
V300E |
probably damaging |
Het |
| Mmgt2 |
T |
C |
11: 62,555,703 (GRCm39) |
L17P |
probably damaging |
Het |
| Or4p21 |
A |
G |
2: 88,277,174 (GRCm39) |
I36T |
probably benign |
Het |
| Or7c19 |
T |
A |
8: 85,957,662 (GRCm39) |
C179* |
probably null |
Het |
| Or7e177 |
A |
T |
9: 20,211,541 (GRCm39) |
E15V |
probably benign |
Het |
| Pigb |
A |
G |
9: 72,924,714 (GRCm39) |
S482P |
probably benign |
Het |
| Pkd1l2 |
T |
A |
8: 117,767,574 (GRCm39) |
T1239S |
possibly damaging |
Het |
| Pou1f1 |
T |
C |
16: 65,328,842 (GRCm39) |
I187T |
probably damaging |
Het |
| Prox1 |
C |
T |
1: 189,893,327 (GRCm39) |
A373T |
probably benign |
Het |
| Rabgap1 |
T |
C |
2: 37,451,962 (GRCm39) |
I954T |
probably benign |
Het |
| Scube3 |
T |
G |
17: 28,383,110 (GRCm39) |
C429W |
probably damaging |
Het |
| Slco6b1 |
T |
A |
1: 96,852,058 (GRCm39) |
|
noncoding transcript |
Het |
| Strc |
A |
T |
2: 121,199,539 (GRCm39) |
I1300N |
probably damaging |
Het |
| Tdrd6 |
T |
A |
17: 43,935,629 (GRCm39) |
R1806S |
probably benign |
Het |
| Trpm8 |
T |
A |
1: 88,288,438 (GRCm39) |
L860Q |
probably damaging |
Het |
| Vmn1r8 |
A |
G |
6: 57,013,605 (GRCm39) |
R219G |
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 |
|
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 |
2015-04-16 |
Incidental Mutation