Incidental Mutation 'IGL02437:Dcaf15'
ID 293326
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dcaf15
Ensembl Gene ENSMUSG00000037103
Gene Name DDB1 and CUL4 associated factor 15
Synonyms
Accession Numbers
Essential gene? Probably essential (E-score: 0.835) question?
Stock # IGL02437
Quality Score
Status
Chromosome 8
Chromosomal Location 84823701-84831397 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 84828445 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Aspartic acid at position 215 (G215D)
Ref Sequence ENSEMBL: ENSMUSP00000147690 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005600] [ENSMUST00000041367] [ENSMUST00000210279] [ENSMUST00000210625]
AlphaFold Q6PFH3
Predicted Effect probably benign
Transcript: ENSMUST00000005600
SMART Domains Protein: ENSMUSP00000005600
Gene: ENSMUSG00000031706

DomainStartEndE-ValueType
low complexity region 11 47 N/A INTRINSIC
low complexity region 53 67 N/A INTRINSIC
low complexity region 73 92 N/A INTRINSIC
Pfam:RFX1_trans_act 106 176 9.6e-9 PFAM
Pfam:RFX1_trans_act 211 366 1.8e-59 PFAM
Pfam:RFX_DNA_binding 420 498 2.5e-35 PFAM
Blast:HisKA 705 768 3e-28 BLAST
low complexity region 908 920 N/A INTRINSIC
low complexity region 932 948 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000041367
AA Change: G215D

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000038568
Gene: ENSMUSG00000037103
AA Change: G215D

DomainStartEndE-ValueType
low complexity region 12 33 N/A INTRINSIC
Pfam:DCAF15_WD40 48 259 1.1e-84 PFAM
low complexity region 275 294 N/A INTRINSIC
low complexity region 343 359 N/A INTRINSIC
low complexity region 374 384 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000210279
AA Change: G215D

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
Predicted Effect probably benign
Transcript: ENSMUST00000210625
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930011G23Rik A G 5: 99,377,236 (GRCm39) S404P probably damaging Het
A930011G23Rik G A 5: 99,377,241 (GRCm39) P402L probably damaging Het
Abca16 T G 7: 120,132,952 (GRCm39) C1294G probably benign Het
Abca7 T A 10: 79,844,223 (GRCm39) S1410T probably damaging Het
Abhd12 T C 2: 150,676,289 (GRCm39) D356G probably benign Het
BC004004 T C 17: 29,517,671 (GRCm39) L295P probably damaging Het
Bpifc T C 10: 85,824,595 (GRCm39) S215G probably damaging Het
Bptf C T 11: 106,965,521 (GRCm39) M1109I probably benign Het
Brat1 C T 5: 140,698,563 (GRCm39) A245V possibly damaging Het
Cask G A X: 13,403,860 (GRCm39) T16I probably damaging Het
Cemip2 T C 19: 21,789,342 (GRCm39) probably null Het
Cibar2 T C 8: 120,901,525 (GRCm39) E60G probably damaging Het
Clic6 A T 16: 92,327,817 (GRCm39) I541F probably damaging Het
Clnk C T 5: 38,931,909 (GRCm39) probably null Het
Cntnap1 T A 11: 101,077,677 (GRCm39) I1113N probably damaging Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Cyp26a1 T C 19: 37,686,943 (GRCm39) S132P probably benign Het
Cyp4f13 G T 17: 33,149,582 (GRCm39) H85N probably benign Het
Dip2a T C 10: 76,134,101 (GRCm39) T500A probably benign Het
Gbe1 T A 16: 70,231,546 (GRCm39) probably benign Het
Gli2 T A 1: 118,763,733 (GRCm39) I1473F probably damaging Het
Gm5129 A T 5: 29,940,861 (GRCm39) probably benign Het
Hdgf C T 3: 87,821,792 (GRCm39) R168C probably damaging Het
Heph A G X: 95,516,633 (GRCm39) T342A probably benign Het
Kdelr3 T C 15: 79,409,988 (GRCm39) Y158H probably damaging Het
Lamb3 C T 1: 193,010,253 (GRCm39) R289C probably damaging Het
Leng8 C T 7: 4,145,092 (GRCm39) A164V probably damaging Het
Ltn1 T C 16: 87,194,889 (GRCm39) T1337A probably benign Het
Mast3 C A 8: 71,233,202 (GRCm39) R316L possibly damaging Het
Nampt A G 12: 32,880,215 (GRCm39) Y36C probably damaging Het
Ncapd3 T A 9: 26,975,264 (GRCm39) probably benign Het
Nipbl T C 15: 8,388,558 (GRCm39) D354G probably damaging Het
Nsd1 A T 13: 55,461,254 (GRCm39) R2494W probably damaging Het
Nt5c1a A G 4: 123,108,034 (GRCm39) N239S probably benign Het
Ogfr A G 2: 180,231,329 (GRCm39) E19G possibly damaging Het
Or11h4b A T 14: 50,918,657 (GRCm39) S145T probably benign Het
Or4c58 A G 2: 89,675,128 (GRCm39) L63P probably damaging Het
Pcna A T 2: 132,093,155 (GRCm39) probably benign Het
Pdia3 T A 2: 121,264,129 (GRCm39) V326E probably damaging Het
Phf8 T A X: 150,414,356 (GRCm39) L1002Q possibly damaging Het
Rhobtb2 T C 14: 70,033,365 (GRCm39) E535G probably damaging Het
Rusc2 G T 4: 43,415,545 (GRCm39) D284Y probably damaging Het
Samd8 A G 14: 21,825,491 (GRCm39) Y212C probably benign Het
Sash3 C A X: 47,247,672 (GRCm39) Q169K probably benign Het
Scyl1 C T 19: 5,816,224 (GRCm39) G324S probably damaging Het
Sec62 G A 3: 30,872,996 (GRCm39) G360R unknown Het
Sis T C 3: 72,826,947 (GRCm39) probably null Het
Slc6a1 T A 6: 114,285,578 (GRCm39) I338N probably damaging Het
Snrnp200 A G 2: 127,058,030 (GRCm39) D264G probably damaging Het
Tgm3 G T 2: 129,871,961 (GRCm39) probably null Het
Tnrc6b T G 15: 80,764,658 (GRCm39) L720R probably damaging Het
Tspyl4 A T 10: 34,174,228 (GRCm39) Q240L probably damaging Het
Tube1 G A 10: 39,016,846 (GRCm39) V80I probably damaging Het
Uap1l1 C T 2: 25,253,945 (GRCm39) V304M probably damaging Het
Wtap T C 17: 13,186,620 (GRCm39) N309S probably benign Het
Zfp518a G A 19: 40,903,061 (GRCm39) G997R probably damaging Het
Zfyve26 T C 12: 79,315,621 (GRCm39) D1285G probably benign Het
Zscan20 G A 4: 128,482,210 (GRCm39) T484I probably damaging Het
Other mutations in Dcaf15
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01402:Dcaf15 APN 8 84,825,026 (GRCm39) missense probably damaging 0.98
IGL01455:Dcaf15 APN 8 84,825,219 (GRCm39) missense probably benign
IGL01656:Dcaf15 APN 8 84,824,617 (GRCm39) missense probably benign 0.01
IGL02718:Dcaf15 APN 8 84,825,005 (GRCm39) missense possibly damaging 0.52
R2072:Dcaf15 UTSW 8 84,828,370 (GRCm39) missense probably damaging 1.00
R2090:Dcaf15 UTSW 8 84,824,400 (GRCm39) nonsense probably null
R3913:Dcaf15 UTSW 8 84,825,794 (GRCm39) missense probably damaging 1.00
R4582:Dcaf15 UTSW 8 84,824,598 (GRCm39) missense probably damaging 1.00
R4657:Dcaf15 UTSW 8 84,829,467 (GRCm39) missense probably damaging 0.99
R4714:Dcaf15 UTSW 8 84,828,845 (GRCm39) missense probably benign 0.21
R4734:Dcaf15 UTSW 8 84,824,357 (GRCm39) missense probably benign 0.00
R5898:Dcaf15 UTSW 8 84,825,081 (GRCm39) missense probably damaging 1.00
R6167:Dcaf15 UTSW 8 84,824,626 (GRCm39) missense possibly damaging 0.78
R6261:Dcaf15 UTSW 8 84,825,734 (GRCm39) missense probably benign
R6408:Dcaf15 UTSW 8 84,831,355 (GRCm39) missense probably benign 0.00
R7248:Dcaf15 UTSW 8 84,829,394 (GRCm39) missense possibly damaging 0.89
R7498:Dcaf15 UTSW 8 84,828,392 (GRCm39) missense probably damaging 1.00
R9201:Dcaf15 UTSW 8 84,828,699 (GRCm39) missense possibly damaging 0.75
Z1088:Dcaf15 UTSW 8 84,829,410 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16