Incidental Mutation 'R9038:Dcaf11'
ID 687560
Institutional Source Beutler Lab
Gene Symbol Dcaf11
Ensembl Gene ENSMUSG00000022214
Gene Name DDB1 and CUL4 associated factor 11
Synonyms 0710008A13Rik, D14Ucla1, Wdr23, GLO14
MMRRC Submission 068866-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9038 (G1)
Quality Score 225.009
Status Not validated
Chromosome 14
Chromosomal Location 55797463-55807522 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 55803114 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 309 (D309E)
Ref Sequence ENSEMBL: ENSMUSP00000072344 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072530] [ENSMUST00000117236] [ENSMUST00000117701] [ENSMUST00000121622] [ENSMUST00000128490] [ENSMUST00000133256] [ENSMUST00000143375] [ENSMUST00000143431] [ENSMUST00000147981] [ENSMUST00000150019] [ENSMUST00000150481] [ENSMUST00000152681]
AlphaFold Q91VU6
Predicted Effect probably damaging
Transcript: ENSMUST00000072530
AA Change: D309E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000072344
Gene: ENSMUSG00000022214
AA Change: D309E

DomainStartEndE-ValueType
low complexity region 2 42 N/A INTRINSIC
low complexity region 49 62 N/A INTRINSIC
WD40 162 200 8.91e-1 SMART
WD40 205 246 8.25e0 SMART
WD40 252 293 2.39e0 SMART
WD40 296 336 1.44e-5 SMART
WD40 344 383 1.26e-5 SMART
WD40 424 469 1.72e0 SMART
WD40 472 511 1.49e-7 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000117236
AA Change: D309E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000113014
Gene: ENSMUSG00000022214
AA Change: D309E

DomainStartEndE-ValueType
low complexity region 2 42 N/A INTRINSIC
low complexity region 49 62 N/A INTRINSIC
WD40 162 200 8.91e-1 SMART
WD40 205 246 8.25e0 SMART
WD40 252 293 2.39e0 SMART
WD40 296 336 1.44e-5 SMART
WD40 344 383 1.26e-5 SMART
WD40 424 469 1.72e0 SMART
WD40 472 511 1.49e-7 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000117701
AA Change: D269E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113620
Gene: ENSMUSG00000022214
AA Change: D269E

DomainStartEndE-ValueType
low complexity region 2 42 N/A INTRINSIC
WD40 122 160 8.91e-1 SMART
WD40 165 206 8.25e0 SMART
WD40 212 253 2.39e0 SMART
WD40 256 296 1.44e-5 SMART
WD40 304 343 1.26e-5 SMART
WD40 384 429 1.72e0 SMART
WD40 432 471 1.49e-7 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000121622
AA Change: D309E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000113202
Gene: ENSMUSG00000022214
AA Change: D309E

DomainStartEndE-ValueType
low complexity region 2 42 N/A INTRINSIC
low complexity region 49 62 N/A INTRINSIC
WD40 162 200 8.91e-1 SMART
WD40 205 246 8.25e0 SMART
WD40 252 293 2.39e0 SMART
WD40 296 336 1.44e-5 SMART
WD40 344 383 1.26e-5 SMART
WD40 424 469 1.72e0 SMART
WD40 472 511 1.49e-7 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000128490
AA Change: D309E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000114211
Gene: ENSMUSG00000022214
AA Change: D309E

DomainStartEndE-ValueType
low complexity region 2 42 N/A INTRINSIC
low complexity region 49 62 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000133256
SMART Domains Protein: ENSMUSP00000118404
Gene: ENSMUSG00000022214

DomainStartEndE-ValueType
low complexity region 2 42 N/A INTRINSIC
low complexity region 49 62 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000143375
SMART Domains Protein: ENSMUSP00000121570
Gene: ENSMUSG00000022214

DomainStartEndE-ValueType
low complexity region 2 42 N/A INTRINSIC
low complexity region 49 62 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000143431
SMART Domains Protein: ENSMUSP00000118762
Gene: ENSMUSG00000022214

DomainStartEndE-ValueType
low complexity region 2 42 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000147981
SMART Domains Protein: ENSMUSP00000123453
Gene: ENSMUSG00000022214

DomainStartEndE-ValueType
low complexity region 2 42 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000150019
SMART Domains Protein: ENSMUSP00000117617
Gene: ENSMUSG00000022214

DomainStartEndE-ValueType
low complexity region 2 42 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000150481
SMART Domains Protein: ENSMUSP00000119001
Gene: ENSMUSG00000022214

DomainStartEndE-ValueType
low complexity region 2 42 N/A INTRINSIC
low complexity region 49 62 N/A INTRINSIC
WD40 162 200 8.91e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000152681
SMART Domains Protein: ENSMUSP00000120296
Gene: ENSMUSG00000022214

DomainStartEndE-ValueType
low complexity region 2 42 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.8%
  • 10x: 98.9%
  • 20x: 95.4%
Validation Efficiency
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 COP9 signalosome, a macromolecular complex that interacts with cullin-RING E3 ligases and regulates their activity by hydrolyzing cullin-Nedd8 conjugates. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2009]
Allele List at MGI

All alleles(2) : Gene trapped(2)

Other mutations in this stock
Total: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb5 A T 12: 118,895,651 (GRCm39) C382S probably benign Het
Abcf2 A G 5: 24,776,191 (GRCm39) V296A possibly damaging Het
Aco2 C G 15: 81,756,620 (GRCm39) probably benign Het
Acvrl1 A G 15: 101,039,011 (GRCm39) D436G possibly damaging Het
Adamts7 A G 9: 90,056,692 (GRCm39) I254V Het
Arhgef18 A G 8: 3,503,257 (GRCm39) I888V probably benign Het
Arhgef40 C A 14: 52,235,072 (GRCm39) A1083D probably damaging Het
Arnt2 C A 7: 83,954,059 (GRCm39) A275S probably benign Het
Brd10 A T 19: 29,731,900 (GRCm39) Y371N possibly damaging Het
Brip1 C T 11: 86,080,599 (GRCm39) V156I probably benign Het
Camk4 C A 18: 33,291,953 (GRCm39) C204* probably null Het
Cenpe A G 3: 134,923,797 (GRCm39) T161A probably benign Het
Chd2 G A 7: 73,105,358 (GRCm39) H1256Y probably damaging Het
Chd9 G A 8: 91,716,233 (GRCm39) V936I unknown Het
D6Ertd527e A G 6: 87,089,233 (GRCm39) *465W probably null Het
Dtna A G 18: 23,743,553 (GRCm39) N373S probably benign Het
Eif2b2 A G 12: 85,266,897 (GRCm39) D104G probably benign Het
Fras1 A T 5: 96,874,742 (GRCm39) T2302S probably benign Het
Gga1 A G 15: 78,768,321 (GRCm39) K114E probably damaging Het
Gm12887 A G 4: 121,473,616 (GRCm39) probably null Het
Gss A T 2: 155,406,794 (GRCm39) I396N Het
H2-M5 T C 17: 37,299,422 (GRCm39) I199M possibly damaging Het
Hjurp GT GTT 1: 88,194,246 (GRCm39) probably null Het
Ift172 G T 5: 31,441,399 (GRCm39) T245K possibly damaging Het
Ift70a2 G A 2: 75,808,215 (GRCm39) T99I probably benign Het
Iqck A G 7: 118,498,881 (GRCm39) D173G probably damaging Het
Itga11 A G 9: 62,675,039 (GRCm39) N857S possibly damaging Het
Kdm1b C A 13: 47,202,770 (GRCm39) S68R probably benign Het
Ly6c1 C A 15: 74,917,300 (GRCm39) G116V probably damaging Het
Myo6 G T 9: 80,162,285 (GRCm39) V341L unknown Het
Nfkbie C A 17: 45,870,183 (GRCm39) A176E probably damaging Het
Nlrp2 C T 7: 5,330,478 (GRCm39) M639I probably benign Het
Or10g3 T A 14: 52,609,716 (GRCm39) S265C probably damaging Het
Or10j2 T A 1: 173,098,147 (GRCm39) I135N possibly damaging Het
Or56a41 T C 7: 104,740,433 (GRCm39) I138V probably benign Het
Or5w16 A G 2: 87,577,125 (GRCm39) N195S probably damaging Het
Or6c215 T C 10: 129,637,564 (GRCm39) T277A probably damaging Het
Or8k40 A T 2: 86,584,354 (GRCm39) S243T probably damaging Het
Pak4 G A 7: 28,264,263 (GRCm39) T213M probably damaging Het
Pan2 C T 10: 128,153,810 (GRCm39) Q1003* probably null Het
Pde4c G C 8: 71,179,550 (GRCm39) V34L probably benign Het
Pi4k2a G A 19: 42,089,235 (GRCm39) V199M probably damaging Het
Platr25 T C 13: 62,848,007 (GRCm39) E285G probably damaging Het
Polr3e T C 7: 120,536,906 (GRCm39) V356A possibly damaging Het
Prcp A G 7: 92,567,017 (GRCm39) D243G probably benign Het
Qsox2 T C 2: 26,115,246 (GRCm39) T161A probably damaging Het
Rhoj A G 12: 75,355,700 (GRCm39) T35A Het
Scn9a T A 2: 66,325,147 (GRCm39) M1336L probably damaging Het
Sel1l2 G T 2: 140,117,384 (GRCm39) N162K probably damaging Het
Slc15a3 T C 19: 10,820,866 (GRCm39) L161P probably damaging Het
Slc4a11 G A 2: 130,533,663 (GRCm39) A100V probably damaging Het
Sp1 A G 15: 102,316,320 (GRCm39) S41G probably benign Het
Tbx15 A G 3: 99,222,085 (GRCm39) M183V probably benign Het
Tfip11 A G 5: 112,481,214 (GRCm39) T397A possibly damaging Het
Themis T C 10: 28,657,749 (GRCm39) S259P probably damaging Het
Tm7sf2 T C 19: 6,117,172 (GRCm39) Y77C probably damaging Het
Tnnt2 C A 1: 135,774,484 (GRCm39) P81H possibly damaging Het
Trpc7 T C 13: 57,035,886 (GRCm39) T16A probably benign Het
Ttn T A 2: 76,745,056 (GRCm39) Y5331F possibly damaging Het
Virma A G 4: 11,526,922 (GRCm39) Q1057R possibly damaging Het
Vmn2r118 A T 17: 55,918,649 (GRCm39) F81Y probably damaging Het
Vmn2r88 T C 14: 51,651,490 (GRCm39) V268A Het
Vmn2r93 T A 17: 18,524,471 (GRCm39) M155K probably benign Het
Vps13b G T 15: 35,875,931 (GRCm39) C2772F possibly damaging Het
Wdr90 T C 17: 26,076,200 (GRCm39) N86D Het
Zbtb34 T C 2: 33,301,248 (GRCm39) D431G probably damaging Het
Zc3h3 G A 15: 75,711,237 (GRCm39) P408L probably benign Het
Zfp345 A G 2: 150,313,864 (GRCm39) Y558H probably benign Het
Zfp583 G A 7: 6,319,543 (GRCm39) P490S probably damaging Het
Other mutations in Dcaf11
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00857:Dcaf11 APN 14 55,798,742 (GRCm39) utr 5 prime probably benign
IGL02158:Dcaf11 APN 14 55,801,980 (GRCm39) splice site probably null
IGL02487:Dcaf11 APN 14 55,806,571 (GRCm39) missense probably benign 0.06
IGL02887:Dcaf11 APN 14 55,801,592 (GRCm39) missense probably damaging 1.00
IGL03263:Dcaf11 APN 14 55,802,949 (GRCm39) missense probably damaging 0.99
IGL03392:Dcaf11 APN 14 55,798,878 (GRCm39) missense probably damaging 1.00
R0057:Dcaf11 UTSW 14 55,806,767 (GRCm39) missense probably benign 0.06
R0057:Dcaf11 UTSW 14 55,806,767 (GRCm39) missense probably benign 0.06
R0084:Dcaf11 UTSW 14 55,806,700 (GRCm39) missense probably benign 0.00
R0110:Dcaf11 UTSW 14 55,806,537 (GRCm39) missense probably damaging 1.00
R0450:Dcaf11 UTSW 14 55,806,537 (GRCm39) missense probably damaging 1.00
R0510:Dcaf11 UTSW 14 55,806,537 (GRCm39) missense probably damaging 1.00
R0662:Dcaf11 UTSW 14 55,802,964 (GRCm39) missense possibly damaging 0.93
R1087:Dcaf11 UTSW 14 55,806,581 (GRCm39) missense probably damaging 0.96
R2281:Dcaf11 UTSW 14 55,806,828 (GRCm39) makesense probably null
R2698:Dcaf11 UTSW 14 55,804,342 (GRCm39) missense probably damaging 1.00
R2866:Dcaf11 UTSW 14 55,803,202 (GRCm39) missense possibly damaging 0.92
R4472:Dcaf11 UTSW 14 55,803,063 (GRCm39) intron probably benign
R5288:Dcaf11 UTSW 14 55,800,833 (GRCm39) missense probably damaging 1.00
R5682:Dcaf11 UTSW 14 55,800,883 (GRCm39) missense probably damaging 1.00
R5706:Dcaf11 UTSW 14 55,803,152 (GRCm39) missense probably damaging 1.00
R7133:Dcaf11 UTSW 14 55,806,383 (GRCm39) splice site probably null
R7468:Dcaf11 UTSW 14 55,802,966 (GRCm39) missense possibly damaging 0.70
R7673:Dcaf11 UTSW 14 55,806,762 (GRCm39) missense probably benign 0.00
R8755:Dcaf11 UTSW 14 55,798,023 (GRCm39) start gained probably benign
R8861:Dcaf11 UTSW 14 55,801,955 (GRCm39) nonsense probably null
R8959:Dcaf11 UTSW 14 55,806,761 (GRCm39) missense probably benign 0.00
R9672:Dcaf11 UTSW 14 55,806,484 (GRCm39) nonsense probably null
R9733:Dcaf11 UTSW 14 55,803,170 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CCAATGATGGCTGCCTATATGTC -3'
(R):5'- GCCCACCTTACTGTCAATAAAGG -3'

Sequencing Primer
(F):5'- GCCTATATGTCTTTGACCGAGAAC -3'
(R):5'- TAAAGGTGATGCCATCCTAGTGCC -3'
Posted On 2021-11-19