Incidental Mutation 'R7912:Wdr48'
ID 610607
Institutional Source Beutler Lab
Gene Symbol Wdr48
Ensembl Gene ENSMUSG00000032512
Gene Name WD repeat domain 48
Synonyms Uaf1, 8430408H12Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7912 (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 A at 119733405 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Tyrosine at position 84 (C84Y)
Ref Sequence ENSEMBL: ENSMUSP00000042509 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036561] [ENSMUST00000177637] [ENSMUST00000215167] [ENSMUST00000215307] [ENSMUST00000217472]
AlphaFold Q8BH57
Predicted Effect probably damaging
Transcript: ENSMUST00000036561
AA Change: C84Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000042509
Gene: ENSMUSG00000032512
AA Change: C84Y

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 probably benign
Transcript: ENSMUST00000215167
Predicted Effect probably damaging
Transcript: ENSMUST00000215307
AA Change: C84Y

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000217472
AA Change: C84Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
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: 90 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310003L06Rik A G 5: 88,120,451 (GRCm39) T403A probably benign Het
Aco1 T C 4: 40,184,983 (GRCm39) L551S probably damaging Het
Acvr1 C T 2: 58,364,230 (GRCm39) V200I probably damaging Het
Adam26b T A 8: 43,973,245 (GRCm39) T586S probably benign Het
Ahctf1 T C 1: 179,580,656 (GRCm39) R1849G probably benign Het
Alox5 T A 6: 116,389,497 (GRCm39) D590V probably benign Het
Anapc5 A G 5: 122,931,498 (GRCm39) probably null Het
Anln T C 9: 22,269,965 (GRCm39) E743G possibly damaging Het
Anpep T C 7: 79,488,174 (GRCm39) K496R probably benign Het
Aox3 T A 1: 58,181,855 (GRCm39) S281T probably benign Het
Arhgef11 C A 3: 87,640,529 (GRCm39) P1258T probably damaging Het
Atp2c2 A T 8: 120,456,917 (GRCm39) D173V possibly damaging Het
Aurka T G 2: 172,210,949 (GRCm39) D22A probably benign Het
B3gat1 A T 9: 26,666,882 (GRCm39) D51V probably benign Het
BC028528 CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT 3: 95,795,448 (GRCm39) probably benign Het
BC028528 TGGTTCTGTGGTCAC TGGTTCTGTGGTCACGGGTTCTGTGGTCAC 3: 95,795,483 (GRCm39) probably benign Het
BC028528 ACTGGTTCTGTGGTCACTGGTTCTGTGGTC ACTGGTTCTGTGGTCGCTGGTTCTGTGGTCACTGGTTCTGTGGTC 3: 95,795,466 (GRCm39) probably benign Het
BC028528 TTC TTCGGTGGTCACTGGCTC 3: 95,795,456 (GRCm39) probably benign Het
BC028528 GGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACT GGTTCTGTGGTCACTTGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACT 3: 95,795,454 (GRCm39) probably benign Het
BC028528 CTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCA CTGGTTCTGTGGTCAATGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCA 3: 95,795,452 (GRCm39) probably benign Het
BC028528 CACTG CACTGATTCTGTGGTGACTG 3: 95,795,450 (GRCm39) probably benign Het
Bcas3 G A 11: 85,261,954 (GRCm39) G96S probably damaging Het
Bltp1 C T 3: 37,061,218 (GRCm39) A3309V probably damaging Het
C2cd4d T A 3: 94,270,860 (GRCm39) V42D probably damaging Het
Ccdc127 T C 13: 74,505,151 (GRCm39) L233P probably damaging Het
Cdc42bpa A G 1: 179,921,578 (GRCm39) K573E probably damaging Het
Cend1 T C 7: 141,007,544 (GRCm39) D92G probably damaging Het
Crb1 T C 1: 139,170,909 (GRCm39) D827G probably damaging Het
Cyld G T 8: 89,461,525 (GRCm39) C654F probably damaging Het
Fastkd5 C T 2: 130,458,557 (GRCm39) G11D probably damaging Het
Foxj3 A T 4: 119,477,252 (GRCm39) N354I possibly damaging Het
Gimap8 G T 6: 48,627,999 (GRCm39) C252F probably benign Het
Glra1 T C 11: 55,411,821 (GRCm39) Y329C probably damaging Het
Gm10330 G A 12: 23,829,980 (GRCm39) P67L probably benign Het
Gpm6a T C 8: 55,508,469 (GRCm39) I226T possibly damaging Het
Gstt2 A G 10: 75,668,418 (GRCm39) F121S probably benign Het
Hjurp TCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCTGCT TCT 1: 88,194,000 (GRCm39) probably benign Het
Hmcn2 T C 2: 31,310,311 (GRCm39) F3302L probably benign Het
Hormad2 T C 11: 4,358,841 (GRCm39) T189A probably damaging Het
Hps5 A T 7: 46,418,826 (GRCm39) S815T probably benign Het
Hydin G T 8: 111,282,239 (GRCm39) R3113L possibly damaging Het
Inava A G 1: 136,155,279 (GRCm39) S109P probably benign Het
Inpp5f T A 7: 128,294,037 (GRCm39) C698S probably benign Het
Irs1 T G 1: 82,267,605 (GRCm39) M204L probably benign Het
Itfg1 T C 8: 86,490,909 (GRCm39) D340G probably damaging Het
Itm2c T A 1: 85,833,032 (GRCm39) I122N probably damaging Het
Lamp3 T A 16: 19,474,247 (GRCm39) T376S probably damaging Het
Lrba T A 3: 86,622,872 (GRCm39) I2418N probably damaging Het
Lrcol1 T A 5: 110,502,715 (GRCm39) V161D probably damaging Het
Lrp2 T A 2: 69,259,016 (GRCm39) Q4558L probably benign Het
Lrrfip2 A T 9: 111,034,836 (GRCm39) Q175L probably damaging Het
Mib1 T G 18: 10,778,187 (GRCm39) S572R probably damaging Het
Mis18bp1 A T 12: 65,199,532 (GRCm39) D456E possibly damaging Het
Mlh1 T A 9: 111,090,581 (GRCm39) T116S possibly damaging Het
Mpp4 T C 1: 59,160,521 (GRCm39) N594S probably damaging Het
Nbas A G 12: 13,455,458 (GRCm39) E1224G possibly damaging Het
Neb T C 2: 52,110,997 (GRCm39) D163G possibly damaging Het
Nectin4 T C 1: 171,207,941 (GRCm39) V111A possibly damaging Het
Nfatc2ip G A 7: 125,989,617 (GRCm39) R256* probably null Het
Nlgn2 G A 11: 69,716,760 (GRCm39) R594C probably damaging Het
Nufip1 A G 14: 76,352,442 (GRCm39) S198G possibly damaging Het
Or2n1 T C 17: 38,486,158 (GRCm39) F61S probably damaging Het
Or5ac23 C T 16: 59,149,606 (GRCm39) D89N possibly damaging Het
Or8b49 T C 9: 38,506,446 (GRCm39) F310L probably benign Het
Or8s8 C T 15: 98,354,574 (GRCm39) H128Y probably benign Het
Pcdhga8 G A 18: 37,859,896 (GRCm39) M317I probably benign Het
Phactr1 A T 13: 42,863,239 (GRCm39) I55L probably benign Het
Prl3c1 G A 13: 27,383,367 (GRCm39) R31Q probably benign Het
Prss55 A T 14: 64,319,180 (GRCm39) F59Y possibly damaging Het
Ptprb T C 10: 116,158,392 (GRCm39) W488R probably damaging Het
Qrich2 GAAACCAGGCTGATCTGCCCCAGGCTGCAACAAACCAGGCTGATCTGCCCCAGGCTGCAACAAACCAGGCTGATCTGCCCCAGGCTGCAACAAACCAGGCTGATCTGTCCCAGGCTGCAACAAACCAGGCTGATC GAAACCAGGCTGATCTGCCCCAGGCTGCAACAAACCAGGCTGATCTGCCCCAGGCTGCAACAAACCAGGCTGATCTGTCCCAGGCTGCAACAAACCAGGCTGATC 11: 116,346,608 (GRCm39) probably benign Het
Ros1 G T 10: 52,044,791 (GRCm39) T172K probably damaging Het
Rtel1 C T 2: 180,997,869 (GRCm39) R1206W possibly damaging Het
Slf2 A T 19: 44,930,682 (GRCm39) K586N probably damaging Het
Smc2 T A 4: 52,450,854 (GRCm39) M224K probably benign Het
Spata31d1e A T 13: 59,890,329 (GRCm39) I497K probably damaging Het
Spinkl T C 18: 44,299,716 (GRCm39) Y83C probably damaging Het
Srgap1 CTACCTCCTCTTAGGGACCACGCCCACCCCCTCCCAGGGACCATGCTTACCTCCTCTTAGGGACCACGCCCACCCCCTCCCAGGGACCATGCTTACCTCCTC CTACCTCCTCTTAGGGACCACGCCCACCCCCTCCCAGGGACCATGCTTACCTCCTC 10: 121,689,458 (GRCm39) probably benign Het
St13 T C 15: 81,283,719 (GRCm39) E26G possibly damaging Het
Teddm3 T A 16: 20,971,699 (GRCm39) Q290L probably benign Het
Tfec C A 6: 16,840,467 (GRCm39) probably null Het
Trank1 C A 9: 111,220,596 (GRCm39) D2444E probably benign Het
Ttc17 T A 2: 94,209,166 (GRCm39) N96I probably damaging Het
Ttn T C 2: 76,560,130 (GRCm39) T29424A possibly damaging Het
Tut7 C A 13: 59,946,819 (GRCm39) Q1003H probably damaging Het
Vmn1r68 G A 7: 10,261,237 (GRCm39) T287I probably benign Het
Vmn2r52 C A 7: 9,896,877 (GRCm39) V532L probably benign Het
Vmn2r92 A T 17: 18,404,970 (GRCm39) T705S possibly damaging Het
Vps13d T C 4: 144,899,697 (GRCm39) D200G Het
Zscan25 T A 5: 145,227,321 (GRCm39) H328Q 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
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
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'- GAAGTGTCACTCTGGATTTAAGTG -3'
(R):5'- GCCTCCTGTCTCAGCATTAG -3'

Sequencing Primer
(F):5'- CACTCTGGATTTAAGTGTGATGG -3'
(R):5'- TGGATTCTACATCAGTGAGAGCC -3'
Posted On 2019-12-20