Incidental Mutation 'R5706:Dcaf11'
ID 451991
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 043331-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5706 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 55797463-55807522 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 55803152 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 282 (I282T)
Ref Sequence ENSEMBL: ENSMUSP00000113620 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072530] [ENSMUST00000117236] [ENSMUST00000117701] [ENSMUST00000121622] [ENSMUST00000128490] [ENSMUST00000147981] [ENSMUST00000152681] [ENSMUST00000143431] [ENSMUST00000143375] [ENSMUST00000150019] [ENSMUST00000150481] [ENSMUST00000133256]
AlphaFold Q91VU6
Predicted Effect probably damaging
Transcript: ENSMUST00000072530
AA Change: I322T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000072344
Gene: ENSMUSG00000022214
AA Change: I322T

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: I322T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000113014
Gene: ENSMUSG00000022214
AA Change: I322T

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: I282T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000113620
Gene: ENSMUSG00000022214
AA Change: I282T

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: I322T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000113202
Gene: ENSMUSG00000022214
AA Change: I322T

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 noncoding transcript
Transcript: ENSMUST00000127991
Predicted Effect probably damaging
Transcript: ENSMUST00000128490
AA Change: I322T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000114211
Gene: ENSMUSG00000022214
AA Change: I322T

DomainStartEndE-ValueType
low complexity region 2 42 N/A INTRINSIC
low complexity region 49 62 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129310
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153638
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135068
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145983
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151245
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: ENSMUST00000152681
SMART Domains Protein: ENSMUSP00000120296
Gene: ENSMUSG00000022214

DomainStartEndE-ValueType
low complexity region 2 42 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: 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: 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: 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 noncoding transcript
Transcript: ENSMUST00000155029
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 95.1%
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 T A 3: 121,847,910 (GRCm39) M77K probably benign Het
Amy1 A G 3: 113,349,769 (GRCm39) V467A probably damaging Het
Atf4 T C 15: 80,140,531 (GRCm39) V11A possibly damaging Het
B4galt1 T C 4: 40,807,268 (GRCm39) N373D probably damaging Het
Bpifa3 A G 2: 153,977,498 (GRCm39) K112R probably damaging Het
Chd2 T A 7: 73,141,105 (GRCm39) Y596F possibly damaging Het
Clspn T C 4: 126,472,211 (GRCm39) S962P probably damaging Het
Cyp2c68 T C 19: 39,722,762 (GRCm39) D262G possibly damaging Het
Dmxl1 T C 18: 50,090,462 (GRCm39) probably null Het
Dnah11 T G 12: 117,987,670 (GRCm39) K2411Q probably damaging Het
Elf3 A G 1: 135,184,220 (GRCm39) V196A probably benign Het
Fhad1 T G 4: 141,681,427 (GRCm39) T538P probably damaging Het
Fkbp10 A G 11: 100,311,849 (GRCm39) D174G probably damaging Het
Gas6 A G 8: 13,527,098 (GRCm39) S217P probably damaging Het
Heatr5b C T 17: 79,074,304 (GRCm39) probably null Het
Iqgap3 A G 3: 88,023,215 (GRCm39) E502G probably benign Het
Klc1 T C 12: 111,762,061 (GRCm39) V577A possibly damaging Het
Lck T C 4: 129,445,431 (GRCm39) probably null Het
Mc3r C A 2: 172,091,610 (GRCm39) Y277* probably null Het
Mlxipl T C 5: 135,162,458 (GRCm39) V640A probably benign Het
Mrc2 A T 11: 105,223,169 (GRCm39) N471Y probably damaging Het
Ncan T A 8: 70,554,667 (GRCm39) H1050L probably damaging Het
Nrl C A 14: 55,759,889 (GRCm39) V13F probably damaging Het
Obscn T A 11: 58,967,082 (GRCm39) Y546F probably damaging Het
Or52u1 T G 7: 104,237,097 (GRCm39) S46A probably benign Het
Or6c209 A G 10: 129,483,960 (GRCm39) probably null Het
Or6d14 A G 6: 116,534,074 (GRCm39) I229M probably damaging Het
Pde3b G A 7: 114,120,927 (GRCm39) G684D probably damaging Het
Prkaa1 C T 15: 5,203,823 (GRCm39) T244I probably benign Het
Scfd2 A T 5: 74,367,059 (GRCm39) probably null Het
Slc22a30 G A 19: 8,321,757 (GRCm39) Q436* probably null Het
Smg1 A T 7: 117,744,813 (GRCm39) V3113D possibly damaging Het
Sorbs1 T C 19: 40,365,325 (GRCm39) T153A probably benign Het
Spag16 A G 1: 69,909,448 (GRCm39) T182A probably benign Het
Spopfm1 T A 3: 94,173,959 (GRCm39) H322Q possibly damaging Het
Svs5 T C 2: 164,079,589 (GRCm39) K106R possibly damaging Het
Tenm1 A G X: 42,163,572 (GRCm39) V107A possibly damaging Het
Topaz1 A T 9: 122,628,550 (GRCm39) I1546F possibly damaging Het
Tubgcp2 C A 7: 139,612,138 (GRCm39) E78* probably null Het
Vars1 A G 17: 35,224,457 (GRCm39) probably null Het
Vmn2r109 A T 17: 20,774,567 (GRCm39) W263R probably benign 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
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
R9038:Dcaf11 UTSW 14 55,803,114 (GRCm39) missense probably damaging 1.00
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'- CGGCGTACTCTTCAGGTATTG -3'
(R):5'- GACAGCCAGAACCTTGAGAG -3'

Sequencing Primer
(F):5'- GTTTGTGAGACAAGAGCCTTCTCC -3'
(R):5'- ATAAAGGTGATGCCATCCTAGTGCC -3'
Posted On 2017-01-03