Incidental Mutation 'R1454:Dcaf17'
ID162184
Institutional Source Beutler Lab
Gene Symbol Dcaf17
Ensembl Gene ENSMUSG00000041966
Gene NameDDB1 and CUL4 associated factor 17
Synonyms
MMRRC Submission 039509-MU
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.530) question?
Stock #R1454 (G1)
Quality Score225
Status Validated
Chromosome2
Chromosomal Location71055328-71099142 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 71073173 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Aspartic acid at position 171 (N171D)
Ref Sequence ENSEMBL: ENSMUSP00000120016 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064141] [ENSMUST00000102701] [ENSMUST00000112159] [ENSMUST00000112167] [ENSMUST00000135357] [ENSMUST00000154704]
Predicted Effect probably damaging
Transcript: ENSMUST00000064141
AA Change: N171D

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
Predicted Effect probably damaging
Transcript: ENSMUST00000102701
AA Change: N171D

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
Predicted Effect probably damaging
Transcript: ENSMUST00000112159
AA Change: N171D

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
Predicted Effect probably benign
Transcript: ENSMUST00000112167
Predicted Effect unknown
Transcript: ENSMUST00000130292
AA Change: N185D
SMART Domains Protein: ENSMUSP00000117830
Gene: ENSMUSG00000041966
AA Change: N185D

DomainStartEndE-ValueType
Pfam:DCAF17 55 405 6.6e-166 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132619
Predicted Effect possibly damaging
Transcript: ENSMUST00000135357
AA Change: N84D

PolyPhen 2 Score 0.818 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000118011
Gene: ENSMUSG00000041966
AA Change: N84D

DomainStartEndE-ValueType
transmembrane domain 98 117 N/A INTRINSIC
transmembrane domain 132 151 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000136299
Predicted Effect probably damaging
Transcript: ENSMUST00000154704
AA Change: N171D

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
Meta Mutation Damage Score 0.052 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 98.0%
  • 10x: 95.2%
  • 20x: 89.2%
Validation Efficiency 97% (58/60)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a nuclear transmembrane protein that associates with cullin 4A/damaged DNA binding protein 1 ubiquitin ligase complex. Mutations in this gene are associated with Woodhouse-Sakati syndrome. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts5 A G 16: 85,869,993 V537A possibly damaging Het
Adcy10 A T 1: 165,515,380 I272F possibly damaging Het
Adcy6 A G 15: 98,604,728 S2P probably damaging Het
Agap1 A G 1: 89,837,806 probably null Het
Aldh3a2 A G 11: 61,265,102 V116A probably benign Het
Ankdd1b A T 13: 96,433,405 probably null Het
Antxrl G A 14: 34,060,949 V233I probably damaging Het
Atp8b5 A G 4: 43,302,590 I38V probably benign Het
Atxn7l2 A G 3: 108,208,432 probably benign Het
Bfsp2 A T 9: 103,480,225 M1K probably null Het
Camsap3 T A 8: 3,603,968 I520N possibly damaging Het
Cenpc1 C T 5: 86,013,510 V854I possibly damaging Het
Csnk2a1 T C 2: 152,257,427 L88S probably damaging Het
Dctn1 G C 6: 83,197,508 A1077P possibly damaging Het
Dock1 T C 7: 134,851,609 probably benign Het
Egfr A T 11: 16,889,920 I645L probably benign Het
Gdpd1 T G 11: 87,059,509 K79N possibly damaging Het
Ggt5 A T 10: 75,609,908 L432F probably benign Het
Gm11060 A G 2: 105,093,752 T22A unknown Het
Gpr132 G A 12: 112,852,240 T322I possibly damaging Het
Grin1 G A 2: 25,292,430 R940* probably null Het
Hip1 T C 5: 135,438,632 T316A probably benign Het
Hnrnpm A G 17: 33,666,488 probably benign Het
Hsd3b5 G A 3: 98,619,530 T200I probably benign Het
Hspa9 A T 18: 34,938,606 L647H probably damaging Het
Itgad T C 7: 128,192,137 I727T probably benign Het
Kcnma1 T C 14: 23,463,200 D522G probably damaging Het
Lipf C T 19: 33,970,732 probably benign Het
Ly6i T C 15: 74,983,055 D2G possibly damaging Het
Mast1 G A 8: 84,920,635 P631L probably damaging Het
Mmp1b G C 9: 7,386,693 L144V probably damaging Het
Msh6 A G 17: 87,984,758 S314G probably benign Het
Myo5c G A 9: 75,263,066 V493I possibly damaging Het
Nefm A G 14: 68,121,379 L402P probably damaging Het
Nrxn2 T C 19: 6,481,446 F697S probably damaging Het
Olfr156 A T 4: 43,820,639 C241S probably damaging Het
Pex13 A G 11: 23,649,422 I363T probably benign Het
Plcb3 T C 19: 6,955,046 R1082G possibly damaging Het
Psg28 A T 7: 18,427,964 S205T possibly damaging Het
Pxt1 C A 17: 28,934,782 V26L possibly damaging Het
Ripk2 G A 4: 16,163,239 T53M probably damaging Het
Slc5a9 A G 4: 111,883,964 V495A probably benign Het
Snrpa T C 7: 27,192,937 K66R probably benign Het
Srgap1 T A 10: 121,896,738 E145V probably damaging Het
Suz12 A G 11: 80,032,113 T694A probably benign Het
Tatdn2 T A 6: 113,704,327 D440E probably benign Het
Tbc1d21 A G 9: 58,362,813 probably null Het
Tbc1d31 T A 15: 57,951,638 Y570* probably null Het
Tbc1d32 A T 10: 56,177,479 probably benign Het
Tdrd5 G C 1: 156,259,836 Q839E probably benign Het
Tecpr2 A G 12: 110,968,953 N1402S probably benign Het
Thbs1 A G 2: 118,122,672 D921G probably damaging Het
Tll1 A G 8: 64,038,490 V803A probably benign Het
Tns2 C T 15: 102,108,934 R281C probably damaging Het
Trappc9 G A 15: 73,025,967 R377W probably damaging Het
Trpm4 T C 7: 45,317,056 E461G probably damaging Het
Zp3 T A 5: 135,984,188 I152N probably damaging Het
Other mutations in Dcaf17
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00093:Dcaf17 APN 2 71078159 missense probably benign 0.03
IGL01125:Dcaf17 APN 2 71089805 missense probably benign 0.03
IGL01761:Dcaf17 APN 2 71056537 missense probably damaging 1.00
IGL02641:Dcaf17 APN 2 71082031 missense probably damaging 1.00
R0081:Dcaf17 UTSW 2 71078468 splice site probably benign
R0388:Dcaf17 UTSW 2 71078571 missense probably benign 0.02
R0593:Dcaf17 UTSW 2 71087400 critical splice donor site probably null
R0637:Dcaf17 UTSW 2 71060419 missense probably damaging 0.99
R0661:Dcaf17 UTSW 2 71088435 missense probably damaging 1.00
R1281:Dcaf17 UTSW 2 71078156 missense probably damaging 1.00
R1501:Dcaf17 UTSW 2 71081988 missense probably damaging 1.00
R1908:Dcaf17 UTSW 2 71060369 nonsense probably null
R1919:Dcaf17 UTSW 2 71078172 splice site probably null
R2882:Dcaf17 UTSW 2 71082027 missense possibly damaging 0.96
R4585:Dcaf17 UTSW 2 71088580 missense probably benign 0.00
R4586:Dcaf17 UTSW 2 71088580 missense probably benign 0.00
R6093:Dcaf17 UTSW 2 71082012 missense possibly damaging 0.51
R7070:Dcaf17 UTSW 2 71088513 missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- AATAGCACAccaagcatggtggtt -3'
(R):5'- AGCACTAGAGCACTGTAGGCAGAC -3'

Sequencing Primer
(F):5'- cagcaagttcagcattagcc -3'
(R):5'- GCAGACATGGATCAATGATCTC -3'
Posted On2014-03-14