Incidental Mutation 'R6182:Wdr48'
ID 487041
Institutional Source Beutler Lab
Gene Symbol Wdr48
Ensembl Gene ENSMUSG00000032512
Gene Name WD repeat domain 48
Synonyms Uaf1, 8430408H12Rik
MMRRC Submission 044324-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6182 (G1)
Quality Score 225.009
Status Not validated
Chromosome 9
Chromosomal Location 119723961-119755652 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 119753832 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Tryptophan at position 665 (G665W)
Ref Sequence ENSEMBL: ENSMUSP00000042509 (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

DomainStartEndE-ValueType
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 probably damaging
Transcript: ENSMUST00000036561
AA Change: G665W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000042509
Gene: ENSMUSG00000032512
AA Change: G665W

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 damaging
Transcript: ENSMUST00000215307
AA Change: G651W

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217492
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216349
Predicted Effect probably benign
Transcript: ENSMUST00000217472
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217429
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.4%
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts7 T C 9: 90,074,489 (GRCm39) S884P probably benign Het
Akap13 C A 7: 75,236,028 (GRCm39) A201E probably benign Het
Ces1f T G 8: 93,983,124 (GRCm39) E540A probably benign Het
Chid1 T A 7: 141,108,415 (GRCm39) M137L probably benign Het
Chsy3 A G 18: 59,312,414 (GRCm39) T296A probably benign Het
Clec4f A G 6: 83,622,284 (GRCm39) V519A probably benign Het
Clk4 T A 11: 51,159,009 (GRCm39) F41I possibly damaging Het
Cntnap5c A G 17: 58,183,390 (GRCm39) D32G probably benign Het
Ctsl T C 13: 64,515,786 (GRCm39) Y95C probably damaging Het
Cyp2c54 T C 19: 40,036,005 (GRCm39) M302V probably benign Het
Cyp2c65 C G 19: 39,049,606 (GRCm39) L45V probably benign Het
Cyp2j6 G C 4: 96,424,323 (GRCm39) L145V probably damaging Het
Daam1 C T 12: 72,006,661 (GRCm39) Q693* probably null Het
Dgcr8 A T 16: 18,098,172 (GRCm39) D406E probably benign Het
Dock2 G T 11: 34,179,476 (GRCm39) P1760Q probably damaging Het
Epb41l2 G A 10: 25,383,715 (GRCm39) R940H probably damaging Het
Erc2 A C 14: 28,039,210 (GRCm39) D951A probably damaging Het
Fbxw7 T C 3: 84,723,078 (GRCm39) probably null Het
Frem2 T A 3: 53,555,390 (GRCm39) I1716F probably damaging Het
Fus A G 7: 127,576,465 (GRCm39) D295G probably damaging Het
Gm5093 A G 17: 46,750,568 (GRCm39) I153T probably benign Het
Gnptab T C 10: 88,265,342 (GRCm39) V318A possibly damaging Het
Gpc2 T C 5: 138,276,676 (GRCm39) D150G probably benign Het
Gsc2 A G 16: 17,731,483 (GRCm39) *215R probably null Het
Hectd3 T C 4: 116,857,476 (GRCm39) S552P probably damaging Het
Katnal1 C A 5: 148,841,407 (GRCm39) K152N possibly damaging Het
Kcnh1 A T 1: 191,873,361 (GRCm39) T16S probably damaging Het
Lrrc71 T C 3: 87,653,101 (GRCm39) D105G probably benign Het
Mon2 T C 10: 122,874,564 (GRCm39) probably null Het
Mroh9 G A 1: 162,893,612 (GRCm39) Q188* probably null Het
Mtmr14 A G 6: 113,246,469 (GRCm39) S81G possibly damaging Het
Nrap T A 19: 56,350,130 (GRCm39) M628L probably benign Het
Odad3 A G 9: 21,901,698 (GRCm39) F553S probably damaging Het
Or1o1 T A 17: 37,716,883 (GRCm39) I148K possibly damaging Het
Or5k1 A G 16: 58,617,655 (GRCm39) Y185H probably damaging Het
Pals2 A G 6: 50,175,206 (GRCm39) I506V probably benign Het
Pate4 A T 9: 35,519,586 (GRCm39) S35T possibly damaging Het
Pkd1l1 T C 11: 8,815,555 (GRCm39) E1452G probably benign Het
Pld5 T C 1: 175,872,420 (GRCm39) D239G probably benign Het
Ppef2 C T 5: 92,374,925 (GRCm39) V728M probably damaging Het
Rasip1 TGCCGCCGCCGCCGCCGCCGCCGC TGCCGCCGCCGCCGCCGCCGC 7: 45,277,879 (GRCm39) probably benign Het
Rsf1 G A 7: 97,229,117 (GRCm39) probably benign Het
Serpina3c C A 12: 104,115,690 (GRCm39) V285L probably benign Het
Serpinb9f T C 13: 33,518,405 (GRCm39) S302P probably damaging Het
Sis C T 3: 72,811,626 (GRCm39) V1642I probably benign Het
Slc12a4 G A 8: 106,674,531 (GRCm39) L601F probably damaging Het
Slc39a6 G T 18: 24,734,013 (GRCm39) N225K probably benign Het
Snrnp70 G A 7: 45,026,497 (GRCm39) R291* probably null Het
Spin1 C T 13: 51,298,374 (GRCm39) T131I probably benign Het
St18 T G 1: 6,914,342 (GRCm39) probably null Het
Stox1 A G 10: 62,500,721 (GRCm39) L613P probably damaging Het
Tgm3 T G 2: 129,867,221 (GRCm39) Y155* probably null Het
Tmem67 T C 4: 12,051,402 (GRCm39) I809V probably benign Het
Tnc T A 4: 63,927,033 (GRCm39) D831V probably damaging Het
Ttll13 A T 7: 79,909,981 (GRCm39) E762D probably benign Het
Unc5b A T 10: 60,601,015 (GRCm39) V937E probably damaging Het
Vmn1r34 A G 6: 66,614,312 (GRCm39) I142T probably damaging Het
Vmn2r104 A G 17: 20,250,507 (GRCm39) M588T probably benign Het
Vmn2r77 T C 7: 86,460,957 (GRCm39) V761A probably damaging Het
Xpot T A 10: 121,442,163 (GRCm39) R550S probably damaging Het
Ydjc A G 16: 16,964,943 (GRCm39) T33A probably benign Het
Zfc3h1 A G 10: 115,226,764 (GRCm39) T274A probably benign Het
Zfp202 G A 9: 40,118,638 (GRCm39) G17E probably damaging Het
Zfp788 T A 7: 41,299,940 (GRCm39) C859S probably damaging Het
Zscan4c T C 7: 10,740,709 (GRCm39) M76T probably benign 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
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
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'- CCGCAGAGGTACACATTTCAG -3'
(R):5'- ATGCATGGAGCCTGGTTTC -3'

Sequencing Primer
(F):5'- GCAGAGGTACACATTTCAGATTCC -3'
(R):5'- GCATGGAGCCTGGTTTCTATATTAC -3'
Posted On 2017-10-10