Incidental Mutation 'R0005:Wdr48'
ID |
201306 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Wdr48
|
Ensembl Gene |
ENSMUSG00000032512 |
Gene Name |
WD repeat domain 48 |
Synonyms |
Uaf1, 8430408H12Rik |
MMRRC Submission |
038301-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R0005 (G1)
|
Quality Score |
72 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
119723961-119755652 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 119738500 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 53
(D53E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000149793
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036561]
[ENSMUST00000177637]
[ENSMUST00000215167]
[ENSMUST00000215307]
[ENSMUST00000217472]
|
AlphaFold |
Q8BH57 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000036561
AA Change: D252E
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000042509 Gene: ENSMUSG00000032512 AA Change: D252E
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
AA Change: D53E
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000215307
AA Change: D252E
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000217472
AA Change: D252E
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217555
|
Meta Mutation Damage Score |
0.0602 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.3%
|
Validation Efficiency |
98% (63/64) |
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: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Atxn2l |
A |
G |
7: 126,097,446 (GRCm39) |
F201L |
probably damaging |
Het |
Camsap3 |
T |
A |
8: 3,654,288 (GRCm39) |
F653I |
probably damaging |
Het |
Cemip2 |
A |
G |
19: 21,789,584 (GRCm39) |
T595A |
probably damaging |
Het |
Col11a2 |
C |
T |
17: 34,281,853 (GRCm39) |
|
probably benign |
Het |
Col27a1 |
A |
G |
4: 63,143,637 (GRCm39) |
T442A |
probably benign |
Het |
Cpsf1 |
A |
G |
15: 76,484,880 (GRCm39) |
|
probably null |
Het |
Enpp4 |
T |
C |
17: 44,413,066 (GRCm39) |
N156S |
probably benign |
Het |
Fat3 |
T |
A |
9: 15,874,162 (GRCm39) |
N3485I |
probably damaging |
Het |
Gabra2 |
C |
T |
5: 71,130,779 (GRCm39) |
V350I |
probably benign |
Het |
H2-T5 |
G |
T |
17: 36,473,084 (GRCm39) |
|
probably benign |
Het |
Hivep2 |
A |
G |
10: 14,004,493 (GRCm39) |
T364A |
probably damaging |
Het |
Kif1b |
A |
T |
4: 149,266,384 (GRCm39) |
V402E |
probably damaging |
Het |
Lamc3 |
A |
G |
2: 31,812,440 (GRCm39) |
D959G |
probably benign |
Het |
Mag |
T |
A |
7: 30,607,779 (GRCm39) |
|
probably benign |
Het |
Map3k1 |
A |
G |
13: 111,892,238 (GRCm39) |
F1006L |
probably benign |
Het |
Mapre2 |
G |
A |
18: 23,986,750 (GRCm39) |
G54D |
probably damaging |
Het |
Muc6 |
G |
T |
7: 141,218,685 (GRCm39) |
T1996N |
possibly damaging |
Het |
Myadm |
C |
T |
7: 3,346,080 (GRCm39) |
Q281* |
probably null |
Het |
Mylk3 |
A |
T |
8: 86,053,832 (GRCm39) |
V625D |
possibly damaging |
Het |
Nlrp9a |
T |
C |
7: 26,273,213 (GRCm39) |
|
probably benign |
Het |
Or8d6 |
A |
G |
9: 39,854,252 (GRCm39) |
D232G |
probably benign |
Het |
Plcz1 |
T |
A |
6: 139,986,290 (GRCm39) |
|
probably benign |
Het |
Plekhg5 |
TCCCCC |
TCC |
4: 152,197,108 (GRCm39) |
|
probably benign |
Het |
Plekhh2 |
A |
C |
17: 84,893,861 (GRCm39) |
D892A |
probably benign |
Het |
Ppih |
A |
G |
4: 119,175,798 (GRCm39) |
|
probably benign |
Het |
Pramel13 |
G |
T |
4: 144,122,423 (GRCm39) |
F40L |
probably damaging |
Het |
Rtn4ip1 |
A |
T |
10: 43,808,474 (GRCm39) |
M84L |
probably benign |
Het |
Slc35f4 |
G |
A |
14: 49,559,943 (GRCm39) |
|
probably benign |
Het |
Spocd1 |
G |
T |
4: 129,850,571 (GRCm39) |
D866Y |
possibly damaging |
Het |
Stxbp4 |
C |
T |
11: 90,439,743 (GRCm39) |
R365Q |
possibly damaging |
Het |
Tmed4 |
C |
T |
11: 6,221,781 (GRCm39) |
R185H |
probably damaging |
Het |
Tnfsf9 |
T |
C |
17: 57,414,236 (GRCm39) |
V221A |
possibly damaging |
Het |
Trappc14 |
T |
C |
5: 138,260,916 (GRCm39) |
|
probably null |
Het |
Vsx2 |
C |
A |
12: 84,617,015 (GRCm39) |
P100Q |
possibly damaging |
Het |
Zfp335 |
T |
A |
2: 164,751,222 (GRCm39) |
S115C |
possibly damaging |
Het |
Zfp608 |
G |
A |
18: 55,028,592 (GRCm39) |
P1274S |
possibly 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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- AGTGTTTACAGAACCAGCAGGCAG -3'
(R):5'- AGGAAGTTATCCATGCCCCAGAGAG -3'
Sequencing Primer
(F):5'- CAAGGGCATGTTGGCTCTG -3'
(R):5'- GATTCTGCTGTACATACCCAAAG -3'
|
Posted On |
2014-05-28 |