Incidental Mutation 'R1881:Wdr48'
ID 209122
Institutional Source Beutler Lab
Gene Symbol Wdr48
Ensembl Gene ENSMUSG00000032512
Gene Name WD repeat domain 48
Synonyms Uaf1, 8430408H12Rik
MMRRC Submission 039902-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1881 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 119723961-119755652 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 119738606 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Leucine at position 89 (V89L)
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: V288L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000042509
Gene: ENSMUSG00000032512
AA Change: V288L

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
AA Change: V89L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
Predicted Effect probably benign
Transcript: ENSMUST00000215307
AA Change: V288L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Predicted Effect probably benign
Transcript: ENSMUST00000217472
AA Change: V288L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217555
Meta Mutation Damage Score 0.0697 question?
Coding Region Coverage
  • 1x: 97.3%
  • 3x: 96.7%
  • 10x: 95.1%
  • 20x: 92.3%
Validation Efficiency 96% (71/74)
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaca C A 11: 84,161,213 (GRCm39) Y1026* probably null Het
Acaca T G 11: 84,191,297 (GRCm39) probably benign Het
Adcy8 C T 15: 64,678,503 (GRCm39) M483I probably damaging Het
Adgrb2 G A 4: 129,904,078 (GRCm39) G735S probably damaging Het
Akap9 A G 5: 4,100,173 (GRCm39) T2612A probably benign Het
Armc1 A T 3: 19,189,060 (GRCm39) S202T possibly damaging Het
Arsj T C 3: 126,232,486 (GRCm39) S411P probably damaging Het
Ash1l T C 3: 88,888,862 (GRCm39) V247A probably benign Het
Camta2 T C 11: 70,562,842 (GRCm39) D935G probably benign Het
Cc2d2a G T 5: 43,898,170 (GRCm39) V1626F probably damaging Het
Cpne3 T A 4: 19,535,266 (GRCm39) R255S probably benign Het
Cramp1 A G 17: 25,196,656 (GRCm39) probably benign Het
Csf2rb2 C T 15: 78,176,735 (GRCm39) probably null Het
Cstf3 A T 2: 104,484,563 (GRCm39) M396L probably benign Het
Ctnnd2 A G 15: 31,005,227 (GRCm39) probably benign Het
Cul7 A T 17: 46,962,888 (GRCm39) Y173F probably damaging Het
Dach1 A T 14: 98,138,832 (GRCm39) M537K probably benign Het
Ddhd2 T C 8: 26,217,727 (GRCm39) I717V probably damaging Het
Dnm1 C T 2: 32,213,742 (GRCm39) V475I probably damaging Het
Dnm3 C T 1: 162,305,517 (GRCm39) probably benign Het
Dsg1c T A 18: 20,405,597 (GRCm39) probably benign Het
Eaf2 A T 16: 36,620,941 (GRCm39) probably benign Het
En1 T A 1: 120,530,904 (GRCm39) V48E unknown Het
Eral1 T A 11: 77,966,875 (GRCm39) H180L possibly damaging Het
Fry T A 5: 150,401,511 (GRCm39) C2760S probably damaging Het
Gtf2h3 C T 5: 124,722,336 (GRCm39) A113V probably benign Het
Hmcn1 C T 1: 150,514,651 (GRCm39) V3574M probably benign Het
Ifnl2 T A 7: 28,209,112 (GRCm39) R68W probably damaging Het
Il6st A G 13: 112,640,947 (GRCm39) T908A probably damaging Het
Krtap4-1 C T 11: 99,518,990 (GRCm39) G7S probably null Het
Ly75 T C 2: 60,180,284 (GRCm39) E631G probably benign Het
Mup5 C A 4: 61,752,868 (GRCm39) E52* probably null Het
Myh15 A G 16: 48,891,446 (GRCm39) I189V probably damaging Het
Nav3 T A 10: 109,688,420 (GRCm39) Q619L probably damaging Het
Or14a257 T C 7: 86,138,646 (GRCm39) M38V probably benign Het
Or1p1 A T 11: 74,179,492 (GRCm39) T7S probably benign Het
Or4n4b A G 14: 50,536,472 (GRCm39) I98T probably damaging Het
Or5e1 T C 7: 108,354,335 (GRCm39) S91P probably damaging Het
Pam T C 1: 97,850,876 (GRCm39) T161A probably benign Het
Phf8-ps T A 17: 33,284,258 (GRCm39) D848V probably damaging Het
Pigs T C 11: 78,232,582 (GRCm39) V472A probably benign Het
Plek A T 11: 16,940,111 (GRCm39) N176K probably benign Het
Poc5 A G 13: 96,535,239 (GRCm39) N168S probably benign Het
Pomt2 G T 12: 87,182,370 (GRCm39) A219D probably damaging Het
Rttn T A 18: 89,033,336 (GRCm39) S716T probably damaging Het
Sema4b A T 7: 79,866,540 (GRCm39) S207C probably damaging Het
Slc25a20 G A 9: 108,557,408 (GRCm39) probably null Het
Slc5a6 A T 5: 31,194,155 (GRCm39) L634Q probably damaging Het
Slfn3 A G 11: 83,104,202 (GRCm39) I235V possibly damaging Het
Smarcc1 T A 9: 110,004,167 (GRCm39) L407Q probably damaging Het
Spata32 T C 11: 103,101,561 (GRCm39) probably benign Het
Tdrd3 A G 14: 87,723,783 (GRCm39) probably null Het
Thada A G 17: 84,744,130 (GRCm39) V726A probably benign Het
Tmed7 A T 18: 46,721,622 (GRCm39) probably null Het
Tmem161a G A 8: 70,633,435 (GRCm39) G94S probably null Het
Tmem81 T A 1: 132,435,948 (GRCm39) probably benign Het
Trim63 C A 4: 134,043,702 (GRCm39) A55E probably damaging Het
Trmt1 A C 8: 85,415,896 (GRCm39) probably benign Het
Trpv4 C T 5: 114,761,687 (GRCm39) V814M probably benign Het
Tshz3 T C 7: 36,471,079 (GRCm39) S1023P possibly damaging Het
Upk3bl G A 5: 136,086,157 (GRCm39) R31Q probably benign Het
Usp40 T C 1: 87,921,993 (GRCm39) D290G probably benign Het
Vmn1r192 G T 13: 22,371,764 (GRCm39) A152E probably benign Het
Vmn1r26 T A 6: 57,985,650 (GRCm39) T180S probably benign Het
Wdr6 G T 9: 108,450,378 (GRCm39) probably null Het
Zfp345 A G 2: 150,314,275 (GRCm39) Y421H probably 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
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
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'- TGTTCACAGTGCCTCTCTGG -3'
(R):5'- AGAGAGGTACTTCAGATATCACAACG -3'

Sequencing Primer
(F):5'- GGAGTTCTGACGGGACCATTC -3'
(R):5'- CTTCAGATATCACAACGTGTCTAC -3'
Posted On 2014-06-30