Incidental Mutation 'R0109:Wdr48'
ID 17819
Institutional Source Beutler Lab
Gene Symbol Wdr48
Ensembl Gene ENSMUSG00000032512
Gene Name WD repeat domain 48
Synonyms Uaf1, 8430408H12Rik
MMRRC Submission 038395-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0109 (G1)
Quality Score
Status Validated
Chromosome 9
Chromosomal Location 119723961-119755652 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) G to A at 119747634 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000150321 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036561] [ENSMUST00000177637] [ENSMUST00000215167] [ENSMUST00000215307] [ENSMUST00000217472]
AlphaFold Q8BH57
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 probably benign
Transcript: ENSMUST00000217472
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217492
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217555
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217429
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: 121,636,262 (GRCm39) H710Q probably benign Het
Abca14 A T 7: 119,917,985 (GRCm39) K1496* probably null Het
Anapc1 C A 2: 128,476,613 (GRCm39) R1335L probably damaging Het
Arhgef10l A T 4: 140,305,605 (GRCm39) S203T probably benign Het
Astn1 C T 1: 158,491,674 (GRCm39) T41I possibly damaging Het
Atrnl1 T A 19: 57,743,949 (GRCm39) Y1184N possibly damaging Het
Avil A G 10: 126,849,513 (GRCm39) N603S probably benign Het
Brca1 T C 11: 101,421,916 (GRCm39) D149G possibly damaging Het
Car14 C A 3: 95,806,763 (GRCm39) A234S probably benign Het
Cep164 A C 9: 45,682,885 (GRCm39) L935R probably damaging Het
Cps1 T C 1: 67,268,577 (GRCm39) V1435A possibly damaging Het
Csmd2 T G 4: 128,438,536 (GRCm39) S3038R probably benign Het
Cyp2j6 A T 4: 96,406,394 (GRCm39) I459N probably damaging Het
Cyth1 T C 11: 118,073,132 (GRCm39) E242G probably damaging Het
Dclk3 T G 9: 111,296,738 (GRCm39) L94R possibly damaging Het
Disp2 T C 2: 118,622,297 (GRCm39) S1010P probably damaging Het
Dlec1 G A 9: 118,934,892 (GRCm39) R145H probably damaging Het
Dsg3 T C 18: 20,673,191 (GRCm39) V954A probably damaging Het
Dync2h1 T A 9: 7,111,487 (GRCm39) D309V probably damaging Het
Fam13b A G 18: 34,584,361 (GRCm39) I601T probably benign Het
Fgd5 T A 6: 91,965,216 (GRCm39) M325K possibly damaging Het
Frmpd1 A T 4: 45,279,340 (GRCm39) E688D probably benign Het
Gabrb1 C T 5: 72,279,289 (GRCm39) probably benign Het
Gm6590 A T 6: 130,461,869 (GRCm39) noncoding transcript Het
Gse1 T A 8: 121,294,524 (GRCm39) S284T probably damaging Het
Ipo13 C T 4: 117,762,213 (GRCm39) R387Q possibly damaging Het
Kctd16 A G 18: 40,392,204 (GRCm39) E264G probably benign Het
Krt73 A T 15: 101,704,830 (GRCm39) L352* probably null Het
Mapk15 A T 15: 75,867,926 (GRCm39) K153* probably null Het
Mcemp1 C A 8: 3,717,055 (GRCm39) Y65* probably null Het
Mcoln2 C G 3: 145,881,473 (GRCm39) R210G probably damaging Het
Miox G A 15: 89,219,784 (GRCm39) V91I probably benign Het
Myh7b A G 2: 155,453,594 (GRCm39) E6G possibly damaging Het
Ncapg A G 5: 45,851,090 (GRCm39) probably null Het
Nfyb G A 10: 82,590,836 (GRCm39) A65V possibly damaging Het
Or4a69 A G 2: 89,313,147 (GRCm39) F111L probably benign Het
Or52d1 T C 7: 103,755,812 (GRCm39) S109P probably damaging Het
Or5b94 C A 19: 12,652,224 (GRCm39) F218L probably benign Het
Osbp2 A C 11: 3,661,791 (GRCm39) S754A probably benign Het
Pard3 C T 8: 128,125,147 (GRCm39) R712C probably damaging Het
Parp9 T C 16: 35,768,711 (GRCm39) I64T probably damaging Het
Pcm1 T A 8: 41,710,974 (GRCm39) H81Q possibly damaging Het
Pcnt G A 10: 76,225,030 (GRCm39) P1825S probably benign Het
Pfkfb4 T C 9: 108,827,957 (GRCm39) V43A probably benign Het
Pgap1 A T 1: 54,533,984 (GRCm39) V643E probably damaging Het
Pip5k1a T C 3: 94,972,753 (GRCm39) T433A probably benign Het
Pip5k1b T A 19: 24,356,411 (GRCm39) M176L probably benign Het
Polg2 T C 11: 106,667,958 (GRCm39) probably benign Het
Pomp T A 5: 147,812,323 (GRCm39) H136Q probably benign Het
Ppfia4 A T 1: 134,251,955 (GRCm39) probably null Het
Prdx2 G A 8: 85,696,880 (GRCm39) G4S probably benign Het
Rbm28 C T 6: 29,160,104 (GRCm39) G70D probably benign Het
Rdh10 T A 1: 16,176,489 (GRCm39) I83N probably damaging Het
Rin3 A G 12: 102,279,340 (GRCm39) I50V possibly damaging Het
Rnf122 T C 8: 31,614,877 (GRCm39) probably benign Het
Sik2 A G 9: 50,810,775 (GRCm39) M447T possibly damaging Het
Sla2 A G 2: 156,725,507 (GRCm39) probably null Het
Slc51a T A 16: 32,296,425 (GRCm39) I192L probably benign Het
Sorcs1 T C 19: 50,367,329 (GRCm39) probably benign Het
Spata16 T A 3: 26,967,416 (GRCm39) F389I probably damaging Het
Srebf1 G A 11: 60,092,630 (GRCm39) A793V probably benign Het
Tbc1d9b T C 11: 50,049,261 (GRCm39) V736A probably benign Het
Tbx15 C A 3: 99,259,182 (GRCm39) T351N possibly damaging Het
Tep1 A G 14: 51,089,373 (GRCm39) probably null Het
Tmed11 T A 5: 108,925,278 (GRCm39) D178V probably damaging Het
Traf7 A G 17: 24,732,900 (GRCm39) F110L probably benign Het
Ubqlnl C T 7: 103,799,399 (GRCm39) V33M probably damaging Het
Vcan A T 13: 89,826,192 (GRCm39) probably null Het
Vmn1r194 A G 13: 22,429,217 (GRCm39) Y278C probably damaging Het
Vmn1r46 T C 6: 89,954,044 (GRCm39) F298L probably benign Het
Vps13b A G 15: 35,572,265 (GRCm39) T961A probably benign Het
Wwp1 G A 4: 19,641,725 (GRCm39) probably benign Het
Zfp1001 A T 2: 150,165,761 (GRCm39) probably benign Het
Zfp217 C T 2: 169,957,382 (GRCm39) A539T probably benign Het
Zfp839 G A 12: 110,827,308 (GRCm39) E400K possibly damaging Het
Other mutations in Wdr48
AlleleSourceChrCoordTypePredicted EffectPPH 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
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 2013-03-25