Incidental Mutation 'R5622:Dcaf8'
ID 441601
Institutional Source Beutler Lab
Gene Symbol Dcaf8
Ensembl Gene ENSMUSG00000026554
Gene Name DDB1 and CUL4 associated factor 8
Synonyms D1Ucla4, D1Dau35e, Wdr42a, H326
MMRRC Submission 043161-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.840) question?
Stock # R5622 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 171975574-172023960 bp(+) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) A to G at 172013965 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000074144] [ENSMUST00000191689] [ENSMUST00000192704] [ENSMUST00000193638]
AlphaFold Q8N7N5
Predicted Effect probably benign
Transcript: ENSMUST00000074144
SMART Domains Protein: ENSMUSP00000073778
Gene: ENSMUSG00000026554

DomainStartEndE-ValueType
WD40 176 215 3.42e-7 SMART
WD40 218 260 2e-1 SMART
WD40 264 306 1.71e1 SMART
WD40 314 354 5.73e0 SMART
WD40 369 409 1.43e0 SMART
WD40 415 457 2.58e-1 SMART
WD40 460 500 5.91e-2 SMART
low complexity region 544 556 N/A INTRINSIC
low complexity region 562 584 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000191689
SMART Domains Protein: ENSMUSP00000141731
Gene: ENSMUSG00000026554

DomainStartEndE-ValueType
WD40 176 215 3.42e-7 SMART
WD40 218 260 2e-1 SMART
WD40 264 306 1.71e1 SMART
WD40 314 354 5.73e0 SMART
WD40 369 409 1.43e0 SMART
WD40 415 457 2.58e-1 SMART
WD40 460 500 5.91e-2 SMART
low complexity region 544 556 N/A INTRINSIC
low complexity region 562 584 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000191891
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192031
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192428
Predicted Effect probably benign
Transcript: ENSMUST00000192704
SMART Domains Protein: ENSMUSP00000141732
Gene: ENSMUSG00000026554

DomainStartEndE-ValueType
WD40 176 215 3.42e-7 SMART
WD40 218 260 2e-1 SMART
WD40 264 306 1.71e1 SMART
WD40 314 354 5.73e0 SMART
WD40 369 409 1.43e0 SMART
WD40 415 457 2.58e-1 SMART
WD40 460 500 5.91e-2 SMART
low complexity region 544 556 N/A INTRINSIC
low complexity region 562 584 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195394
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195011
Predicted Effect probably benign
Transcript: ENSMUST00000195345
Predicted Effect probably benign
Transcript: ENSMUST00000193638
SMART Domains Protein: ENSMUSP00000141836
Gene: ENSMUSG00000026554

DomainStartEndE-ValueType
WD40 176 215 3.42e-7 SMART
WD40 218 260 2e-1 SMART
WD40 264 306 1.71e1 SMART
WD40 314 354 5.73e0 SMART
Meta Mutation Damage Score 0.0846 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.7%
  • 10x: 97.2%
  • 20x: 95.2%
Validation Efficiency 97% (69/71)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a WD repeat-containing protein that interacts with the Cul4-Ddb1 E3 ligase macromolecular complex. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2009]
Allele List at MGI
Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 A T 17: 24,546,642 (GRCm39) S320T probably benign Het
Alg8 T A 7: 97,036,006 (GRCm39) probably benign Het
Anp32b G A 4: 46,469,930 (GRCm39) E202K unknown Het
Apcdd1 A G 18: 63,069,973 (GRCm39) probably null Het
Apobec2 A G 17: 48,730,444 (GRCm39) V74A possibly damaging Het
Arid3c A T 4: 41,729,959 (GRCm39) C79S probably benign Het
Atp1a2 A T 1: 172,118,994 (GRCm39) probably benign Het
B2m A T 2: 121,981,471 (GRCm39) N62I probably damaging Het
Borcs5 T C 6: 134,663,086 (GRCm39) probably null Het
Ccn1 A G 3: 145,355,075 (GRCm39) L60P probably damaging Het
Cdk11b A G 4: 155,714,674 (GRCm39) K127E probably damaging Het
Cep170 T C 1: 176,563,433 (GRCm39) H726R possibly damaging Het
Col5a2 A C 1: 45,466,219 (GRCm39) S190A probably benign Het
Cryba4 T C 5: 112,398,990 (GRCm39) D5G probably damaging Het
Cyp2a5 T G 7: 26,535,299 (GRCm39) V87G probably damaging Het
Dchs1 A G 7: 105,404,500 (GRCm39) S2681P probably benign Het
Ddx20 A G 3: 105,586,327 (GRCm39) S673P probably damaging Het
Deptor T A 15: 55,044,428 (GRCm39) I198N probably damaging Het
Ebf2 T C 14: 67,628,007 (GRCm39) I334T possibly damaging Het
F5 A G 1: 164,020,134 (GRCm39) R870G probably benign Het
Flg2 A C 3: 93,109,871 (GRCm39) H633P unknown Het
Gm11938 T A 11: 99,494,119 (GRCm39) probably null Het
Gm6370 A G 5: 146,430,708 (GRCm39) T298A probably benign Het
H60b C A 10: 22,159,441 (GRCm39) probably benign Het
Hsbp1 A G 8: 120,071,324 (GRCm39) T4A possibly damaging Het
Hsd3b3 A T 3: 98,649,524 (GRCm39) D266E possibly damaging Het
Ift172 T C 5: 31,440,426 (GRCm39) Y287C probably damaging Het
Il20rb T A 9: 100,368,371 (GRCm39) Q4L probably benign Het
Krt5 T C 15: 101,617,470 (GRCm39) D421G probably damaging Het
Lonp1 G C 17: 56,927,263 (GRCm39) A330G probably benign Het
Me3 A G 7: 89,445,871 (GRCm39) D196G probably damaging Het
Mfsd12 T A 10: 81,199,461 (GRCm39) V451E probably null Het
Mib1 A G 18: 10,794,503 (GRCm39) N663S possibly damaging Het
Mtus2 A T 5: 148,015,244 (GRCm39) N679I probably benign Het
Myt1 A G 2: 181,438,915 (GRCm39) T146A probably benign Het
Neb T A 2: 52,160,281 (GRCm39) H2244L probably damaging Het
Or51l4 T C 7: 103,404,376 (GRCm39) T139A probably damaging Het
Or5b21 A C 19: 12,839,663 (GRCm39) I175L probably benign Het
Or5p81 C T 7: 108,267,289 (GRCm39) T222I probably benign Het
Pabpc4 A G 4: 123,185,524 (GRCm39) probably null Het
Padi1 C A 4: 140,552,266 (GRCm39) V393L probably damaging Het
Pax2 A T 19: 44,806,905 (GRCm39) D300V probably damaging Het
Pcgf2 T C 11: 97,581,078 (GRCm39) E71G probably damaging Het
Pi4kb A G 3: 94,906,172 (GRCm39) Q573R possibly damaging Het
Pitpna T A 11: 75,511,153 (GRCm39) M242K possibly damaging Het
Pkd1 A G 17: 24,793,014 (GRCm39) E1567G possibly damaging Het
Plcb2 A T 2: 118,545,210 (GRCm39) S630R probably damaging Het
Prrt2 A T 7: 126,618,937 (GRCm39) V176D probably benign Het
Prss1l A C 6: 41,373,084 (GRCm39) N119H probably damaging Het
Prss42 T C 9: 110,628,490 (GRCm39) probably null Het
Rhoq A G 17: 87,304,459 (GRCm39) R197G probably benign Het
Rin2 A T 2: 145,702,299 (GRCm39) T332S probably benign Het
Rnps1-ps C T 6: 7,982,605 (GRCm39) noncoding transcript Het
Rp1 A T 1: 4,418,060 (GRCm39) N1017K possibly damaging Het
Setbp1 T A 18: 78,900,700 (GRCm39) Y989F probably damaging Het
Slc11a1 G A 1: 74,420,065 (GRCm39) G191D probably damaging Het
Slc35f5 G A 1: 125,517,693 (GRCm39) R497Q probably damaging Het
Slf1 T C 13: 77,198,090 (GRCm39) K728R probably benign Het
Tiparp T G 3: 65,454,946 (GRCm39) S364A probably benign Het
Tph1 G A 7: 46,296,969 (GRCm39) Q409* probably null Het
Trp73 A T 4: 154,145,049 (GRCm39) I526N possibly damaging Het
Ttc9c G A 19: 8,793,332 (GRCm39) R103* probably null Het
Vmn2r75 T A 7: 85,797,702 (GRCm39) I704F probably benign Het
Wdr76 A G 2: 121,348,216 (GRCm39) R63G probably damaging Het
Zc3h3 T A 15: 75,648,928 (GRCm39) S735C probably damaging Het
Zfp383 G A 7: 29,611,615 (GRCm39) V32M probably damaging Het
Zfp810 T A 9: 22,190,392 (GRCm39) Y172F probably benign Het
Other mutations in Dcaf8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03163:Dcaf8 APN 1 172,000,475 (GRCm39) missense probably damaging 1.00
FR4976:Dcaf8 UTSW 1 172,000,423 (GRCm39) missense probably damaging 1.00
PIT4362001:Dcaf8 UTSW 1 172,000,364 (GRCm39) missense probably damaging 0.96
R0329:Dcaf8 UTSW 1 172,014,978 (GRCm39) missense probably benign 0.42
R0458:Dcaf8 UTSW 1 172,001,610 (GRCm39) missense probably benign 0.00
R0729:Dcaf8 UTSW 1 172,000,221 (GRCm39) missense probably benign
R0731:Dcaf8 UTSW 1 172,000,076 (GRCm39) missense possibly damaging 0.66
R1389:Dcaf8 UTSW 1 172,001,619 (GRCm39) missense probably benign 0.00
R1496:Dcaf8 UTSW 1 172,021,422 (GRCm39) missense probably benign 0.39
R1719:Dcaf8 UTSW 1 172,003,062 (GRCm39) missense probably damaging 0.96
R1856:Dcaf8 UTSW 1 172,003,120 (GRCm39) missense probably damaging 1.00
R2342:Dcaf8 UTSW 1 172,013,928 (GRCm39) missense possibly damaging 0.48
R2512:Dcaf8 UTSW 1 172,016,602 (GRCm39) missense possibly damaging 0.95
R4163:Dcaf8 UTSW 1 172,020,137 (GRCm39) missense probably damaging 1.00
R4546:Dcaf8 UTSW 1 172,007,460 (GRCm39) splice site probably benign
R4880:Dcaf8 UTSW 1 172,015,056 (GRCm39) intron probably benign
R5092:Dcaf8 UTSW 1 172,014,476 (GRCm39) missense probably benign 0.02
R5734:Dcaf8 UTSW 1 172,000,478 (GRCm39) missense possibly damaging 0.65
R6245:Dcaf8 UTSW 1 171,993,434 (GRCm39) start codon destroyed probably benign 0.01
R7090:Dcaf8 UTSW 1 172,016,535 (GRCm39) missense probably damaging 0.96
R8178:Dcaf8 UTSW 1 172,013,886 (GRCm39) missense probably benign 0.22
R8734:Dcaf8 UTSW 1 172,021,427 (GRCm39) missense probably benign 0.01
R8978:Dcaf8 UTSW 1 172,022,124 (GRCm39) missense probably benign 0.00
R8985:Dcaf8 UTSW 1 172,000,199 (GRCm39) missense probably benign
R9014:Dcaf8 UTSW 1 172,007,530 (GRCm39) missense possibly damaging 0.93
R9423:Dcaf8 UTSW 1 172,007,524 (GRCm39) missense probably damaging 1.00
R9500:Dcaf8 UTSW 1 171,999,909 (GRCm39) missense possibly damaging 0.63
Z1176:Dcaf8 UTSW 1 172,000,496 (GRCm39) missense probably benign 0.32
Predicted Primers PCR Primer
(F):5'- TTTGTTTCACAACTCTGCAGGGG -3'
(R):5'- TTACTGAGGCCCTGTCTTGG -3'

Sequencing Primer
(F):5'- TTCACAACTCTGCAGGGGATCATG -3'
(R):5'- CCACATGATGGTGCAAATTTCC -3'
Posted On 2016-11-08