Incidental Mutation 'R6261:Dcaf15'
ID 506701
Institutional Source Beutler Lab
Gene Symbol Dcaf15
Ensembl Gene ENSMUSG00000037103
Gene Name DDB1 and CUL4 associated factor 15
Synonyms
MMRRC Submission 044404-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.835) question?
Stock # R6261 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 84823701-84831397 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 84825734 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 291 (A291V)
Ref Sequence ENSEMBL: ENSMUSP00000147690 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005600] [ENSMUST00000041367] [ENSMUST00000210279] [ENSMUST00000210625] [ENSMUST00000211046]
AlphaFold Q6PFH3
Predicted Effect probably benign
Transcript: ENSMUST00000005600
SMART Domains Protein: ENSMUSP00000005600
Gene: ENSMUSG00000031706

DomainStartEndE-ValueType
low complexity region 11 47 N/A INTRINSIC
low complexity region 53 67 N/A INTRINSIC
low complexity region 73 92 N/A INTRINSIC
Pfam:RFX1_trans_act 106 176 9.6e-9 PFAM
Pfam:RFX1_trans_act 211 366 1.8e-59 PFAM
Pfam:RFX_DNA_binding 420 498 2.5e-35 PFAM
Blast:HisKA 705 768 3e-28 BLAST
low complexity region 908 920 N/A INTRINSIC
low complexity region 932 948 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000041367
AA Change: A291V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000038568
Gene: ENSMUSG00000037103
AA Change: A291V

DomainStartEndE-ValueType
low complexity region 12 33 N/A INTRINSIC
Pfam:DCAF15_WD40 48 259 1.1e-84 PFAM
low complexity region 275 294 N/A INTRINSIC
low complexity region 343 359 N/A INTRINSIC
low complexity region 374 384 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000210279
AA Change: A291V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000210625
Predicted Effect probably benign
Transcript: ENSMUST00000211046
Meta Mutation Damage Score 0.0846 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.7%
  • 20x: 96.7%
Validation Efficiency 100% (65/65)
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot8 T C 2: 164,636,979 (GRCm39) D257G probably damaging Het
Adamtsl1 T C 4: 86,255,115 (GRCm39) V736A probably benign Het
Anln A G 9: 22,275,342 (GRCm39) L521S probably damaging Het
Arfgap2 T G 2: 91,100,627 (GRCm39) S311A probably benign Het
Brdt A T 5: 107,496,369 (GRCm39) E160D probably benign Het
Ccdc187 A G 2: 26,166,215 (GRCm39) I738T probably damaging Het
Cd59a G C 2: 103,934,550 (GRCm39) G6A probably damaging Het
Cd5l C T 3: 87,275,915 (GRCm39) P295L probably benign Het
Cdhr17 T C 5: 17,017,183 (GRCm39) noncoding transcript Het
Cnot1 A G 8: 96,468,549 (GRCm39) S1432P probably benign Het
Cnot8 T A 11: 58,004,877 (GRCm39) I192N probably damaging Het
Col4a1 G T 8: 11,257,409 (GRCm39) probably null Het
Cuta A G 17: 27,158,301 (GRCm39) L11P possibly damaging Het
Cyp2c39 G A 19: 39,556,463 (GRCm39) R433H probably damaging Het
Cyp4a12b T A 4: 115,271,740 (GRCm39) Y150* probably null Het
Dcstamp A T 15: 39,618,131 (GRCm39) H180L possibly damaging Het
Egfr A G 11: 16,839,964 (GRCm39) I659M probably benign Het
Fzd8 A G 18: 9,214,598 (GRCm39) E560G possibly damaging Het
Gm5111 A T 6: 48,566,526 (GRCm39) probably benign Het
Gm7945 T C 14: 41,104,780 (GRCm39) T214A unknown Het
Gpi1 T C 7: 33,920,170 (GRCm39) T168A possibly damaging Het
Gys2 T C 6: 142,405,134 (GRCm39) I218V probably benign Het
Gzmf T A 14: 56,443,949 (GRCm39) I74L probably benign Het
Hacl1 G A 14: 31,357,728 (GRCm39) A70V probably damaging Het
Herc2 T A 7: 55,846,820 (GRCm39) L3590* probably null Het
Idh2 GGTCCCAG GG 7: 79,748,077 (GRCm39) probably benign Het
Igfals G T 17: 25,100,339 (GRCm39) V477F possibly damaging Het
Igkv8-28 A T 6: 70,120,874 (GRCm39) V23E probably benign Het
Isg20l2 T A 3: 87,839,395 (GRCm39) V202E probably damaging Het
Jakmip2 A G 18: 43,708,599 (GRCm39) I288T probably benign Het
Kansl3 A G 1: 36,404,686 (GRCm39) V88A probably benign Het
Kcna3 A G 3: 106,945,266 (GRCm39) T510A possibly damaging Het
Map2k5 G T 9: 63,245,380 (GRCm39) L140I probably benign Het
Map3k19 A G 1: 127,750,336 (GRCm39) I1005T possibly damaging Het
Mmp25 G A 17: 23,849,768 (GRCm39) A541V possibly damaging Het
Ms4a14 T A 19: 11,281,384 (GRCm39) E391D probably benign Het
Mtrf1l A G 10: 5,765,550 (GRCm39) probably null Het
Myom1 A G 17: 71,433,132 (GRCm39) N1591S probably damaging Het
Nos1 G A 5: 118,074,635 (GRCm39) V1060M probably benign Het
Nsun5 C T 5: 135,400,385 (GRCm39) T142M probably damaging Het
Odc1 A G 12: 17,600,655 (GRCm39) E430G probably benign Het
Or8g36 C A 9: 39,422,105 (GRCm39) V304F probably benign Het
P2ry12 T C 3: 59,125,328 (GRCm39) I116V probably null Het
Patl1 T A 19: 11,897,695 (GRCm39) V94E probably damaging Het
Plin3 A T 17: 56,588,488 (GRCm39) Y255* probably null Het
Pou6f1 T C 15: 100,477,827 (GRCm39) T439A probably damaging Het
Prdm13 T C 4: 21,678,366 (GRCm39) K708R probably damaging Het
Prr14l A G 5: 32,986,748 (GRCm39) S916P possibly damaging Het
Rab34 T A 11: 78,082,028 (GRCm39) probably null Het
Rps7 A G 12: 28,685,593 (GRCm39) S21P possibly damaging Het
Scn9a A T 2: 66,314,240 (GRCm39) L1815Q probably damaging Het
Sesn3 A G 9: 14,232,459 (GRCm39) Y244C probably benign Het
Slc15a2 A G 16: 36,581,973 (GRCm39) F284L probably benign Het
Slc25a44 C T 3: 88,328,218 (GRCm39) G72D probably damaging Het
Slco6d1 A G 1: 98,427,588 (GRCm39) T640A probably benign Het
Sspo A T 6: 48,439,125 (GRCm39) E1591V possibly damaging Het
Tbata C A 10: 61,011,644 (GRCm39) T60K possibly damaging Het
Tbc1d2 T A 4: 46,637,692 (GRCm39) T185S possibly damaging Het
Tlcd4 T A 3: 121,028,708 (GRCm39) I60F possibly damaging Het
Tmem87a A G 2: 120,234,502 (GRCm39) S14P possibly damaging Het
Tnnt2 C A 1: 135,778,292 (GRCm39) probably null Het
Trex1 A G 9: 108,887,709 (GRCm39) V94A probably benign Het
Ubtfl1 A C 9: 18,320,592 (GRCm39) D40A possibly damaging Het
Zc3hav1 A T 6: 38,309,935 (GRCm39) Y296N probably benign Het
Zfp521 T A 18: 13,977,684 (GRCm39) N910Y probably damaging Het
Zfp53 A G 17: 21,728,975 (GRCm39) E336G possibly damaging Het
Other mutations in Dcaf15
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01402:Dcaf15 APN 8 84,825,026 (GRCm39) missense probably damaging 0.98
IGL01455:Dcaf15 APN 8 84,825,219 (GRCm39) missense probably benign
IGL01656:Dcaf15 APN 8 84,824,617 (GRCm39) missense probably benign 0.01
IGL02437:Dcaf15 APN 8 84,828,445 (GRCm39) missense probably damaging 1.00
IGL02718:Dcaf15 APN 8 84,825,005 (GRCm39) missense possibly damaging 0.52
R2072:Dcaf15 UTSW 8 84,828,370 (GRCm39) missense probably damaging 1.00
R2090:Dcaf15 UTSW 8 84,824,400 (GRCm39) nonsense probably null
R3913:Dcaf15 UTSW 8 84,825,794 (GRCm39) missense probably damaging 1.00
R4582:Dcaf15 UTSW 8 84,824,598 (GRCm39) missense probably damaging 1.00
R4657:Dcaf15 UTSW 8 84,829,467 (GRCm39) missense probably damaging 0.99
R4714:Dcaf15 UTSW 8 84,828,845 (GRCm39) missense probably benign 0.21
R4734:Dcaf15 UTSW 8 84,824,357 (GRCm39) missense probably benign 0.00
R5898:Dcaf15 UTSW 8 84,825,081 (GRCm39) missense probably damaging 1.00
R6167:Dcaf15 UTSW 8 84,824,626 (GRCm39) missense possibly damaging 0.78
R6408:Dcaf15 UTSW 8 84,831,355 (GRCm39) missense probably benign 0.00
R7248:Dcaf15 UTSW 8 84,829,394 (GRCm39) missense possibly damaging 0.89
R7498:Dcaf15 UTSW 8 84,828,392 (GRCm39) missense probably damaging 1.00
R9201:Dcaf15 UTSW 8 84,828,699 (GRCm39) missense possibly damaging 0.75
Z1088:Dcaf15 UTSW 8 84,829,410 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GCTTGCGGCTCTAAAGATGG -3'
(R):5'- TTGAACACGAATGGCTCTCGG -3'

Sequencing Primer
(F):5'- CTCTAAAGATGGGCGGCAGC -3'
(R):5'- TCTCGGGGGCTCCTTCAG -3'
Posted On 2018-03-15