Incidental Mutation 'R5257:Dcaf5'
ID 399811
Institutional Source Beutler Lab
Gene Symbol Dcaf5
Ensembl Gene ENSMUSG00000049106
Gene Name DDB1 and CUL4 associated factor 5
Synonyms BCRP2, Wdr22, 9430020B07Rik, BCRG2
MMRRC Submission 042855-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.683) question?
Stock # R5257 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 80382622-80483375 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 80444493 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Histidine at position 200 (P200H)
Ref Sequence ENSEMBL: ENSMUSP00000052755 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054145]
AlphaFold Q80T85
Predicted Effect probably damaging
Transcript: ENSMUST00000054145
AA Change: P200H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000052755
Gene: ENSMUSG00000049106
AA Change: P200H

DomainStartEndE-ValueType
WD40 42 82 3.32e-5 SMART
WD40 90 129 1.95e-2 SMART
WD40 132 171 1.28e-6 SMART
WD40 179 216 2.65e1 SMART
low complexity region 248 255 N/A INTRINSIC
WD40 264 308 1.66e0 SMART
WD40 322 361 2.01e-4 SMART
low complexity region 431 441 N/A INTRINSIC
low complexity region 506 518 N/A INTRINSIC
low complexity region 548 573 N/A INTRINSIC
low complexity region 623 638 N/A INTRINSIC
low complexity region 793 807 N/A INTRINSIC
low complexity region 929 941 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218498
Meta Mutation Damage Score 0.1744 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.5%
Validation Efficiency 97% (63/65)
Allele List at MGI

All alleles(3) : Targeted, other(2) Gene trapped(1)

Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A T 11: 9,199,684 (GRCm39) T128S possibly damaging Het
Abca16 T G 7: 120,035,992 (GRCm39) probably null Het
Acp3 T C 9: 104,186,674 (GRCm39) I266V probably benign Het
Afg3l2 G T 18: 67,554,329 (GRCm39) L458M probably damaging Het
Asf1b C T 8: 84,695,896 (GRCm39) T179I probably benign Het
Astn1 A G 1: 158,440,102 (GRCm39) K890R probably damaging Het
Card11 G A 5: 140,862,180 (GRCm39) P1039L possibly damaging Het
Cep43 T C 17: 8,391,775 (GRCm39) S152P probably benign Het
Chsy3 A G 18: 59,542,866 (GRCm39) E668G possibly damaging Het
Cnot8 T A 11: 58,008,348 (GRCm39) N271K possibly damaging Het
Dkk4 C A 8: 23,117,031 (GRCm39) L215I probably damaging Het
Dnhd1 C T 7: 105,323,244 (GRCm39) T584I probably benign Het
Dock3 T C 9: 106,874,124 (GRCm39) Y449C probably damaging Het
Dsg1a A G 18: 20,453,988 (GRCm39) D31G probably damaging Het
Foxi2 C T 7: 135,012,256 (GRCm39) T48M probably benign Het
Gdf3 T C 6: 122,583,345 (GRCm39) M341V probably damaging Het
Gm21738 A G 14: 19,415,942 (GRCm38) L199S probably benign Het
Gm4787 G C 12: 81,424,604 (GRCm39) T518S probably benign Het
Igkv4-80 T A 6: 68,993,811 (GRCm39) T27S probably benign Het
Ipo9 A T 1: 135,313,173 (GRCm39) C1019S probably damaging Het
Klk14 G A 7: 43,341,501 (GRCm39) C51Y probably damaging Het
Ktn1 T A 14: 47,904,820 (GRCm39) H199Q probably benign Het
Kyat3 A G 3: 142,440,337 (GRCm39) M354V probably benign Het
Lbhd1 A G 19: 8,861,453 (GRCm39) probably benign Het
Llgl1 G C 11: 60,602,389 (GRCm39) probably null Het
Lyzl6 T A 11: 103,525,899 (GRCm39) I74F probably damaging Het
Mfsd4b2 T A 10: 39,798,017 (GRCm39) M113L probably benign Het
Mslnl T C 17: 25,965,139 (GRCm39) Y502H probably benign Het
Nckap5 A G 1: 125,952,245 (GRCm39) S1372P probably damaging Het
Nle1 T C 11: 82,795,772 (GRCm39) D225G probably damaging Het
Or5au1 T C 14: 52,273,341 (GRCm39) T76A possibly damaging Het
P2rx7 A G 5: 122,819,066 (GRCm39) E496G probably damaging Het
Padi4 C T 4: 140,473,515 (GRCm39) V641M probably benign Het
Phf11d T C 14: 59,590,160 (GRCm39) I221V possibly damaging Het
Pla2g2c G A 4: 138,458,856 (GRCm39) probably benign Het
Prdm16 A T 4: 154,451,671 (GRCm39) D179E possibly damaging Het
Psca A T 15: 74,588,240 (GRCm39) I56F probably damaging Het
Ptrhd1 A G 12: 4,286,481 (GRCm39) Y124C probably damaging Het
Sardh T C 2: 27,134,271 (GRCm39) T82A probably damaging Het
Sesn1 C T 10: 41,770,984 (GRCm39) P172S probably benign Het
Setd4 T C 16: 93,393,221 (GRCm39) T57A probably damaging Het
Skint5 T C 4: 113,434,859 (GRCm39) T1037A unknown Het
Slc18a3 T C 14: 32,185,777 (GRCm39) D202G probably damaging Het
Slc44a5 G A 3: 153,948,760 (GRCm39) C176Y probably damaging Het
Slc6a5 G A 7: 49,579,740 (GRCm39) V373M probably damaging Het
Sorbs3 T C 14: 70,422,483 (GRCm39) I523V probably benign Het
Sspo T C 6: 48,453,428 (GRCm39) V2872A probably damaging Het
Stard9 T A 2: 120,529,824 (GRCm39) L2027H probably damaging Het
Tex2 T A 11: 106,458,585 (GRCm39) probably benign Het
Tfdp1 C T 8: 13,419,529 (GRCm39) T86M possibly damaging Het
Ttc6 A T 12: 57,749,061 (GRCm39) D1331V possibly damaging Het
Vps13b A G 15: 35,794,567 (GRCm39) T2326A possibly damaging Het
Wnk1 A G 6: 120,014,149 (GRCm39) S149P probably benign Het
Zfp521 G A 18: 13,980,035 (GRCm39) S126F probably damaging Het
Zfp958 A T 8: 4,678,456 (GRCm39) E160D probably benign Het
Other mutations in Dcaf5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00094:Dcaf5 APN 12 80,386,097 (GRCm39) missense probably benign 0.01
IGL00990:Dcaf5 APN 12 80,385,606 (GRCm39) missense probably benign
IGL01788:Dcaf5 APN 12 80,395,098 (GRCm39) missense probably damaging 1.00
IGL01865:Dcaf5 APN 12 80,386,088 (GRCm39) missense probably benign 0.36
IGL02365:Dcaf5 APN 12 80,445,547 (GRCm39) missense probably benign 0.01
R1160:Dcaf5 UTSW 12 80,386,989 (GRCm39) missense possibly damaging 0.83
R1443:Dcaf5 UTSW 12 80,410,843 (GRCm39) missense probably damaging 1.00
R1804:Dcaf5 UTSW 12 80,386,603 (GRCm39) missense probably benign 0.19
R1945:Dcaf5 UTSW 12 80,385,468 (GRCm39) missense probably benign 0.12
R2043:Dcaf5 UTSW 12 80,386,991 (GRCm39) missense probably benign 0.03
R2104:Dcaf5 UTSW 12 80,385,635 (GRCm39) missense probably benign 0.00
R4831:Dcaf5 UTSW 12 80,385,858 (GRCm39) missense probably benign 0.00
R4860:Dcaf5 UTSW 12 80,387,006 (GRCm39) missense probably benign 0.06
R4860:Dcaf5 UTSW 12 80,387,006 (GRCm39) missense probably benign 0.06
R5263:Dcaf5 UTSW 12 80,395,120 (GRCm39) missense probably damaging 1.00
R5569:Dcaf5 UTSW 12 80,386,975 (GRCm39) missense probably damaging 1.00
R5597:Dcaf5 UTSW 12 80,386,817 (GRCm39) missense probably damaging 0.99
R5632:Dcaf5 UTSW 12 80,444,526 (GRCm39) missense probably damaging 0.98
R5779:Dcaf5 UTSW 12 80,385,606 (GRCm39) missense probably benign
R5833:Dcaf5 UTSW 12 80,395,203 (GRCm39) missense probably damaging 0.98
R6794:Dcaf5 UTSW 12 80,445,667 (GRCm39) missense possibly damaging 0.66
R7188:Dcaf5 UTSW 12 80,446,732 (GRCm39) missense probably damaging 1.00
R7238:Dcaf5 UTSW 12 80,385,483 (GRCm39) missense probably benign 0.27
R7286:Dcaf5 UTSW 12 80,395,164 (GRCm39) missense probably damaging 1.00
R7524:Dcaf5 UTSW 12 80,423,470 (GRCm39) missense probably benign 0.09
R8679:Dcaf5 UTSW 12 80,385,807 (GRCm39) missense probably benign 0.00
R9248:Dcaf5 UTSW 12 80,386,563 (GRCm39) missense probably benign 0.19
Predicted Primers PCR Primer
(F):5'- AGAGAAGCCCAACTGAGCTC -3'
(R):5'- GGAGACATGAAAGTTGGTACCTC -3'

Sequencing Primer
(F):5'- CACACAGCTACTCCACAAGTTCTTG -3'
(R):5'- CATGAAAGTTGGTACCTCATGGG -3'
Posted On 2016-07-06