Incidental Mutation 'R0109:Wdr48'
ID17819
Institutional Source Beutler Lab
Gene Symbol Wdr48
Ensembl Gene ENSMUSG00000032512
Gene NameWD repeat domain 48
SynonymsUaf1, 8430408H12Rik
MMRRC Submission 038395-MU
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R0109 (G1)
Quality Score
Status Validated
Chromosome9
Chromosomal Location119894878-119926587 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) G to A at 119918568 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000150321 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036561] [ENSMUST00000177637] [ENSMUST00000215167] [ENSMUST00000215307] [ENSMUST00000217472]
Predicted Effect probably benign
Transcript: ENSMUST00000036561
SMART Domains Protein: ENSMUSP00000042509
Gene: ENSMUSG00000032512

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
Pfam:7tm_1 49 294 3.5e-50 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213230
Predicted Effect probably benign
Transcript: ENSMUST00000215167
Predicted Effect probably benign
Transcript: ENSMUST00000215307
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216349
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217429
Predicted Effect probably benign
Transcript: ENSMUST00000217472
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217492
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217555
Coding Region Coverage
  • 1x: 90.6%
  • 3x: 88.5%
  • 10x: 83.8%
  • 20x: 77.5%
Validation Efficiency 90% (95/106)
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m C A 6: 121,659,303 H710Q probably benign Het
Abca14 A T 7: 120,318,762 K1496* probably null Het
Anapc1 C A 2: 128,634,693 R1335L probably damaging Het
Arhgef10l A T 4: 140,578,294 S203T probably benign Het
Astn1 C T 1: 158,664,104 T41I possibly damaging Het
Atrnl1 T A 19: 57,755,517 Y1184N possibly damaging Het
Avil A G 10: 127,013,644 N603S probably benign Het
Brca1 T C 11: 101,531,090 D149G possibly damaging Het
Car14 C A 3: 95,899,451 A234S probably benign Het
Cep164 A C 9: 45,771,587 L935R probably damaging Het
Cps1 T C 1: 67,229,418 V1435A possibly damaging Het
Csmd2 T G 4: 128,544,743 S3038R probably benign Het
Cyp2j6 A T 4: 96,518,157 I459N probably damaging Het
Cyth1 T C 11: 118,182,306 E242G probably damaging Het
Dclk3 T G 9: 111,467,670 L94R possibly damaging Het
Disp2 T C 2: 118,791,816 S1010P probably damaging Het
Dlec1 G A 9: 119,105,824 R145H probably damaging Het
Dsg3 T C 18: 20,540,134 V954A probably damaging Het
Dync2h1 T A 9: 7,111,487 D309V probably damaging Het
Fam13b A G 18: 34,451,308 I601T probably benign Het
Fgd5 T A 6: 91,988,235 M325K possibly damaging Het
Frmpd1 A T 4: 45,279,340 E688D probably benign Het
Gabrb1 C T 5: 72,121,946 probably benign Het
Gm10130 A T 2: 150,323,841 probably benign Het
Gm6590 A T 6: 130,484,906 noncoding transcript Het
Gse1 T A 8: 120,567,785 S284T probably damaging Het
Ipo13 C T 4: 117,905,016 R387Q possibly damaging Het
Kctd16 A G 18: 40,259,151 E264G probably benign Het
Krt73 A T 15: 101,796,395 L352* probably null Het
Mapk15 A T 15: 75,996,077 K153* probably null Het
Mcemp1 C A 8: 3,667,055 Y65* probably null Het
Mcoln2 C G 3: 146,175,718 R210G probably damaging Het
Miox G A 15: 89,335,581 V91I probably benign Het
Myh7b A G 2: 155,611,674 E6G possibly damaging Het
Ncapg A G 5: 45,693,748 probably null Het
Nfyb G A 10: 82,755,002 A65V possibly damaging Het
Olfr1241 A G 2: 89,482,803 F111L probably benign Het
Olfr1442 C A 19: 12,674,860 F218L probably benign Het
Olfr646 T C 7: 104,106,605 S109P probably damaging Het
Osbp2 A C 11: 3,711,791 S754A probably benign Het
Pard3 C T 8: 127,398,666 R712C probably damaging Het
Parp9 T C 16: 35,948,341 I64T probably damaging Het
Pcm1 T A 8: 41,257,937 H81Q possibly damaging Het
Pcnt G A 10: 76,389,196 P1825S probably benign Het
Pfkfb4 T C 9: 108,998,889 V43A probably benign Het
Pgap1 A T 1: 54,494,825 V643E probably damaging Het
Pip5k1a T C 3: 95,065,442 T433A probably benign Het
Pip5k1b T A 19: 24,379,047 M176L probably benign Het
Polg2 T C 11: 106,777,132 probably benign Het
Pomp T A 5: 147,875,513 H136Q probably benign Het
Ppfia4 A T 1: 134,324,217 probably null Het
Prdx2 G A 8: 84,970,251 G4S probably benign Het
Rbm28 C T 6: 29,160,105 G70D probably benign Het
Rdh10 T A 1: 16,106,265 I83N probably damaging Het
Rin3 A G 12: 102,313,081 I50V possibly damaging Het
Rnf122 T C 8: 31,124,849 probably benign Het
Sik2 A G 9: 50,899,475 M447T possibly damaging Het
Sla2 A G 2: 156,883,587 probably null Het
Slc51a T A 16: 32,477,607 I192L probably benign Het
Sorcs1 T C 19: 50,378,891 probably benign Het
Spata16 T A 3: 26,913,267 F389I probably damaging Het
Srebf1 G A 11: 60,201,804 A793V probably benign Het
Tbc1d9b T C 11: 50,158,434 V736A probably benign Het
Tbx15 C A 3: 99,351,866 T351N possibly damaging Het
Tep1 A G 14: 50,851,916 probably null Het
Tmed11 T A 5: 108,777,412 D178V probably damaging Het
Traf7 A G 17: 24,513,926 F110L probably benign Het
Ubqlnl C T 7: 104,150,192 V33M probably damaging Het
Vcan A T 13: 89,678,073 probably null Het
Vmn1r194 A G 13: 22,245,047 Y278C probably damaging Het
Vmn1r46 T C 6: 89,977,062 F298L probably benign Het
Vps13b A G 15: 35,572,119 T961A probably benign Het
Wwp1 G A 4: 19,641,725 probably benign Het
Zfp217 C T 2: 170,115,462 A539T probably benign Het
Zfp839 G A 12: 110,860,874 E400K possibly damaging Het
Other mutations in Wdr48
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00479:Wdr48 APN 9 119905390 missense probably damaging 1.00
IGL02005:Wdr48 APN 9 119905389 missense probably damaging 1.00
IGL02097:Wdr48 APN 9 119924263 missense probably damaging 1.00
IGL02217:Wdr48 APN 9 119909535 missense probably benign 0.01
IGL02416:Wdr48 APN 9 119924760 missense probably damaging 0.98
IGL03198:Wdr48 APN 9 119912413 missense probably benign 0.01
R0005:Wdr48 UTSW 9 119909434 missense probably benign 0.01
R1753:Wdr48 UTSW 9 119924247 nonsense probably null
R1829:Wdr48 UTSW 9 119904330 missense probably benign 0.03
R1837:Wdr48 UTSW 9 119905416 missense probably damaging 0.99
R1881:Wdr48 UTSW 9 119909540 missense probably benign 0.00
R1916:Wdr48 UTSW 9 119912417 missense probably benign 0.01
R2039:Wdr48 UTSW 9 119909387 missense probably damaging 1.00
R2421:Wdr48 UTSW 9 119902404 missense probably damaging 1.00
R3031:Wdr48 UTSW 9 119924110 missense probably benign 0.02
R3719:Wdr48 UTSW 9 119907131 missense probably damaging 1.00
R6014:Wdr48 UTSW 9 119924709 missense probably damaging 1.00
R6054:Wdr48 UTSW 9 119907777 missense probably damaging 1.00
R6182:Wdr48 UTSW 9 119924766 missense probably damaging 1.00
R6285:Wdr48 UTSW 9 119920610 missense probably damaging 1.00
R6434:Wdr48 UTSW 9 119916813 missense possibly damaging 0.94
R7167:Wdr48 UTSW 9 119907789 critical splice donor site probably null
R7282:Wdr48 UTSW 9 119911081 missense probably damaging 1.00
R7567:Wdr48 UTSW 9 119916828 missense possibly damaging 0.66
R7912:Wdr48 UTSW 9 119904339 missense probably damaging 1.00
R8373:Wdr48 UTSW 9 119905494 missense probably damaging 1.00
Posted On2013-03-25