Incidental Mutation 'R3123:Dcaf8l'
ID 264179
Institutional Source Beutler Lab
Gene Symbol Dcaf8l
Ensembl Gene ENSMUSG00000035395
Gene Name DDB1 and CUL4 associated factor 8 like
Synonyms PC231, PC326, Pet2, Pex3
MMRRC Submission 040596-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.088) question?
Stock # R3123 (G1)
Quality Score 222
Status Validated
Chromosome X
Chromosomal Location 88447454-88453295 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 88448327 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Asparagine at position 601 (Y601N)
Ref Sequence ENSEMBL: ENSMUSP00000109593 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000113959] [ENSMUST00000113960]
AlphaFold A2AHY8
Predicted Effect probably benign
Transcript: ENSMUST00000113959
AA Change: Y601N

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000109592
Gene: ENSMUSG00000035395
AA Change: Y601N

DomainStartEndE-ValueType
low complexity region 80 96 N/A INTRINSIC
low complexity region 144 153 N/A INTRINSIC
low complexity region 180 192 N/A INTRINSIC
low complexity region 202 217 N/A INTRINSIC
low complexity region 271 286 N/A INTRINSIC
WD40 342 381 2.67e-9 SMART
WD40 384 426 8.91e-1 SMART
Blast:WD40 432 472 4e-19 BLAST
WD40 478 520 1.65e1 SMART
WD40 535 575 7.4e0 SMART
WD40 581 623 1.28e0 SMART
WD40 626 666 2.61e-3 SMART
low complexity region 729 740 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000113960
AA Change: Y601N

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000109593
Gene: ENSMUSG00000035395
AA Change: Y601N

DomainStartEndE-ValueType
low complexity region 80 96 N/A INTRINSIC
low complexity region 144 153 N/A INTRINSIC
low complexity region 180 192 N/A INTRINSIC
low complexity region 202 217 N/A INTRINSIC
low complexity region 271 286 N/A INTRINSIC
WD40 342 381 2.67e-9 SMART
WD40 384 426 8.91e-1 SMART
Blast:WD40 432 472 4e-19 BLAST
WD40 478 520 1.65e1 SMART
WD40 535 575 7.4e0 SMART
WD40 581 623 1.28e0 SMART
WD40 626 666 2.61e-3 SMART
low complexity region 729 740 N/A INTRINSIC
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.5%
  • 20x: 95.6%
Validation Efficiency 100% (46/46)
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ak9 A G 10: 41,234,576 (GRCm39) I646V possibly damaging Het
Atp4a G A 7: 30,419,650 (GRCm39) R671Q probably benign Het
Caskin2 T C 11: 115,695,623 (GRCm39) D246G probably damaging Het
Csn1s2b T C 5: 87,966,917 (GRCm39) probably benign Het
Ctsa T A 2: 164,677,152 (GRCm39) probably null Het
Cyp2j8 G A 4: 96,389,450 (GRCm39) probably benign Het
Dach2 T C X: 112,729,664 (GRCm39) I417T possibly damaging Het
Dhx9 T C 1: 153,341,452 (GRCm39) K599E possibly damaging Het
Duox2 A G 2: 122,111,554 (GRCm39) probably benign Het
F2rl3 T C 8: 73,489,840 (GRCm39) S356P probably damaging Het
Fem1b T C 9: 62,703,836 (GRCm39) I475V probably benign Het
Glra3 A G 8: 56,578,244 (GRCm39) R434G possibly damaging Het
Gpr75 T A 11: 30,841,709 (GRCm39) S205T possibly damaging Het
Hsd17b12 C T 2: 93,864,303 (GRCm39) R268Q probably benign Het
Htt T C 5: 34,961,875 (GRCm39) S287P probably benign Het
Ifi27l2b T C 12: 103,417,594 (GRCm39) T198A unknown Het
Kdm5d T C Y: 900,558 (GRCm39) V201A possibly damaging Het
Khdrbs2 C A 1: 32,558,858 (GRCm39) R408L probably damaging Het
Lonp1 A G 17: 56,933,488 (GRCm39) I129T possibly damaging Het
Macc1 T C 12: 119,411,368 (GRCm39) F712S probably damaging Het
Mcpt8 A T 14: 56,321,398 (GRCm39) I22K probably damaging Het
Nop2 G A 6: 125,109,164 (GRCm39) probably benign Het
Or10ag53 A T 2: 87,083,135 (GRCm39) T285S possibly damaging Het
Or2l13 A G 16: 19,305,765 (GRCm39) Y59C probably damaging Het
Or2y3 G A 17: 38,392,903 (GRCm39) probably null Het
Pkd1l1 T A 11: 8,923,021 (GRCm39) D82V unknown Het
Polr2a A T 11: 69,626,536 (GRCm39) S1566T possibly damaging Het
Ppwd1 C T 13: 104,350,198 (GRCm39) E396K possibly damaging Het
Prr30 A G 14: 101,436,425 (GRCm39) S46P probably benign Het
Pthlh A T 6: 147,164,789 (GRCm39) V27E probably damaging Het
Ptpn4 A G 1: 119,693,153 (GRCm39) probably null Het
Rad18 A T 6: 112,658,307 (GRCm39) D199E probably benign Het
Ralgps1 T C 2: 33,048,968 (GRCm39) T314A possibly damaging Het
Rbm27 A G 18: 42,460,230 (GRCm39) E764G probably damaging Het
Robo4 CGG CG 9: 37,322,786 (GRCm39) probably null Het
Taf15 G A 11: 83,395,154 (GRCm39) probably null Het
Tas2r140 T A 6: 133,032,204 (GRCm39) I185L probably benign Het
Tgfbr2 G A 9: 115,939,137 (GRCm39) T230M possibly damaging Het
Tnpo1 GCACCTCTGCTTCCTC GCACCTCTGCTTCCTCACCTCTGCTTCCTC 13: 99,003,637 (GRCm39) probably null Het
Togaram1 G T 12: 65,013,118 (GRCm39) R123L probably damaging Het
Trappc9 G A 15: 72,897,816 (GRCm39) R377W probably damaging Het
Trim9 C T 12: 70,295,167 (GRCm39) G648R probably damaging Het
Upf1 A G 8: 70,790,133 (GRCm39) probably benign Het
Vmn2r109 C T 17: 20,761,248 (GRCm39) C703Y probably damaging Het
Zfp574 G T 7: 24,781,026 (GRCm39) A683S possibly damaging Het
Zfp777 A G 6: 48,006,050 (GRCm39) probably benign Het
Other mutations in Dcaf8l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00469:Dcaf8l APN X 88,449,944 (GRCm39) missense possibly damaging 0.86
IGL03064:Dcaf8l APN X 88,448,857 (GRCm39) missense possibly damaging 0.95
R0401:Dcaf8l UTSW X 88,448,815 (GRCm39) missense probably benign 0.01
R0612:Dcaf8l UTSW X 88,448,972 (GRCm39) nonsense probably null
R2146:Dcaf8l UTSW X 88,449,883 (GRCm39) missense possibly damaging 0.85
R2148:Dcaf8l UTSW X 88,449,883 (GRCm39) missense possibly damaging 0.85
R3124:Dcaf8l UTSW X 88,448,327 (GRCm39) missense probably benign 0.01
R3125:Dcaf8l UTSW X 88,448,327 (GRCm39) missense probably benign 0.01
Z1088:Dcaf8l UTSW X 88,449,943 (GRCm39) missense probably benign 0.33
Predicted Primers PCR Primer
(F):5'- CATTCTTTAAGCCGGCAAGC -3'
(R):5'- GCTCTGATTACCCAGCACAC -3'

Sequencing Primer
(F):5'- TCATGGTCTAGCCCACTGGATG -3'
(R):5'- TTACCCAGCACACATCACATCTCTG -3'
Posted On 2015-02-05