Incidental Mutation 'R3162:Ddb1'
ID 500469
Institutional Source Beutler Lab
Gene Symbol Ddb1
Ensembl Gene ENSMUSG00000024740
Gene Name damage specific DNA binding protein 1
Synonyms damage-specific DNA-binding protein, DNA repair, p127-Ddb1, DNA repair protein
MMRRC Submission 040613-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3162 (G1)
Quality Score 225
Status Not validated
Chromosome 19
Chromosomal Location 10582961-10607186 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 10603335 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 881 (L881P)
Ref Sequence ENSEMBL: ENSMUSP00000025649 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025649]
AlphaFold Q3U1J4
Predicted Effect probably damaging
Transcript: ENSMUST00000025649
AA Change: L881P

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000025649
Gene: ENSMUSG00000024740
AA Change: L881P

DomainStartEndE-ValueType
Pfam:MMS1_N 75 543 1.9e-122 PFAM
low complexity region 755 775 N/A INTRINSIC
Pfam:CPSF_A 788 1099 1e-92 PFAM
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.0%
Validation Efficiency 98% (49/50)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is the large subunit (p127) of the heterodimeric DNA damage-binding (DDB) complex while another protein (p48) forms the small subunit. This protein complex functions in nucleotide-excision repair and binds to DNA following UV damage. Defective activity of this complex causes the repair defect in patients with xeroderma pigmentosum complementation group E (XPE) - an autosomal recessive disorder characterized by photosensitivity and early onset of carcinomas. However, it remains for mutation analysis to demonstrate whether the defect in XPE patients is in this gene or the gene encoding the small subunit. In addition, Best vitelliform mascular dystrophy is mapped to the same region as this gene on 11q, but no sequence alternations of this gene are demonstrated in Best disease patients. The protein encoded by this gene also functions as an adaptor molecule for the cullin 4 (CUL4) ubiquitin E3 ligase complex by facilitating the binding of substrates to this complex and the ubiquitination of proteins. [provided by RefSeq, May 2012]
PHENOTYPE: Complete deletion of this gene results in embryonic lethality; conditional mutation causes increased apoptosis in the developing brain, and defects in lens formation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 89 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610040J01Rik T C 5: 64,053,833 (GRCm39) probably benign Het
4933412E24Rik T A 15: 59,888,134 (GRCm39) E102V probably damaging Het
Adcy9 A G 16: 4,129,452 (GRCm39) L715P probably damaging Het
Adgre4 T C 17: 56,109,218 (GRCm39) probably benign Het
Amer2 A G 14: 60,616,000 (GRCm39) D65G probably damaging Het
Atad2b C A 12: 4,989,689 (GRCm39) N133K possibly damaging Het
AW551984 C A 9: 39,504,325 (GRCm39) R547L probably damaging Het
B3galt6 A G 4: 156,076,464 (GRCm39) Y204H probably benign Het
Btnl2 T C 17: 34,577,039 (GRCm39) W65R probably damaging Het
Camk1g T C 1: 193,042,115 (GRCm39) T45A possibly damaging Het
Caps2 C A 10: 112,018,391 (GRCm39) Y180* probably null Het
Ccdc181 T A 1: 164,107,865 (GRCm39) S183T probably damaging Het
Cdc14b A G 13: 64,394,422 (GRCm39) probably benign Het
Cep350 T C 1: 155,738,910 (GRCm39) H2311R probably benign Het
Cfap54 T A 10: 92,881,140 (GRCm39) K349N probably damaging Het
Copa T A 1: 171,918,800 (GRCm39) C127S probably damaging Het
Crbn T C 6: 106,767,827 (GRCm39) Q221R probably benign Het
Dapk2 T G 9: 66,161,893 (GRCm39) V267G probably damaging Het
Decr1 T A 4: 15,930,972 (GRCm39) D120V probably damaging Het
Dennd1c C T 17: 57,373,562 (GRCm39) G637D possibly damaging Het
Dhrs3 A G 4: 144,646,016 (GRCm39) D108G possibly damaging Het
Disp1 T C 1: 182,868,806 (GRCm39) K1205E probably benign Het
Dnajc13 G T 9: 104,097,097 (GRCm39) N510K possibly damaging Het
Dusp6 T C 10: 99,099,944 (GRCm39) Y131H probably damaging Het
Eif2b2 A T 12: 85,266,435 (GRCm39) M34L probably benign Het
Epsti1 A T 14: 78,211,953 (GRCm39) probably benign Het
Errfi1 G A 4: 150,951,816 (GRCm39) E415K probably damaging Het
Ext1 T C 15: 53,208,000 (GRCm39) N254D possibly damaging Het
Gm7337 A C 5: 87,999,416 (GRCm39) noncoding transcript Het
Hnrnpu T C 1: 178,158,690 (GRCm39) probably benign Het
Hyal3 T A 9: 107,464,005 (GRCm39) C407S probably damaging Het
Insr T G 8: 3,211,416 (GRCm39) N1141T possibly damaging Het
Ipo9 T C 1: 135,337,214 (GRCm39) T174A probably benign Het
Iqgap1 G A 7: 80,402,086 (GRCm39) A393V probably benign Het
Irak2 G T 6: 113,649,721 (GRCm39) A119S probably benign Het
Itgb2l A G 16: 96,238,589 (GRCm39) L70P probably damaging Het
Itsn1 C A 16: 91,649,932 (GRCm39) S202* probably null Het
Ivd T C 2: 118,692,650 (GRCm39) probably null Het
Leprot C T 4: 101,515,090 (GRCm39) T89I probably damaging Het
Lratd2 A T 15: 60,695,296 (GRCm39) V150E probably damaging Het
Mill2 A C 7: 18,590,099 (GRCm39) E127A probably benign Het
Msh6 T C 17: 88,292,909 (GRCm39) Y555H probably damaging Het
Myo18b A C 5: 112,840,594 (GRCm39) S2400A probably damaging Het
Naa25 A G 5: 121,573,135 (GRCm39) probably null Het
Nop2 A G 6: 125,111,555 (GRCm39) N96S probably benign Het
Nup155 G T 15: 8,177,867 (GRCm39) R1083S possibly damaging Het
Nusap1 A T 2: 119,460,885 (GRCm39) Q126L possibly damaging Het
Or11g24 T A 14: 50,662,488 (GRCm39) C171S probably damaging Het
Or13c7b T A 4: 43,820,544 (GRCm39) K272N probably benign Het
Or2z2 T C 11: 58,346,053 (GRCm39) T241A probably damaging Het
Or4c52 T G 2: 89,845,365 (GRCm39) Y30* probably null Het
Or5al1 T C 2: 85,990,439 (GRCm39) I92V probably benign Het
Or6x1 G T 9: 40,098,901 (GRCm39) Q163H probably benign Het
Or7a35 C A 10: 78,853,438 (GRCm39) T94N probably benign Het
Pde5a T A 3: 122,575,277 (GRCm39) L356* probably null Het
Pdik1l A G 4: 134,011,561 (GRCm39) L94S probably damaging Het
Pkdrej T A 15: 85,700,818 (GRCm39) D1706V probably damaging Het
Pkhd1l1 A G 15: 44,368,924 (GRCm39) I856M probably damaging Het
Prkcz A T 4: 155,374,981 (GRCm39) D114E probably benign Het
Prss59 A G 6: 40,903,003 (GRCm39) M123T probably benign Het
Psap T C 10: 60,113,575 (GRCm39) L4P possibly damaging Het
Ptprk T C 10: 28,468,822 (GRCm39) V1402A probably benign Het
Rai14 T C 15: 10,633,250 (GRCm39) T47A possibly damaging Het
Ralgapa1 A T 12: 55,756,371 (GRCm39) N1075K probably damaging Het
Rlf A G 4: 121,006,044 (GRCm39) S979P probably damaging Het
Rps2 G T 17: 24,939,952 (GRCm39) A129S probably benign Het
Serinc2 A G 4: 130,154,528 (GRCm39) S175P probably benign Het
Skic2 C T 17: 35,066,789 (GRCm39) W88* probably null Het
Socs5 A T 17: 87,442,146 (GRCm39) Q362L probably damaging Het
Srbd1 A T 17: 86,437,643 (GRCm39) D233E probably benign Het
Srgap3 A G 6: 112,706,619 (GRCm39) V826A probably benign Het
Tacr2 A G 10: 62,101,024 (GRCm39) D378G probably benign Het
Taok2 A G 7: 126,474,347 (GRCm39) I294T possibly damaging Het
Tert A G 13: 73,775,528 (GRCm39) E93G possibly damaging Het
Tns2 A G 15: 102,021,771 (GRCm39) E1118G possibly damaging Het
Topaz1 T C 9: 122,578,446 (GRCm39) I452T probably benign Het
Trak1 C T 9: 121,280,800 (GRCm39) probably benign Het
Ttc22 A T 4: 106,480,276 (GRCm39) I177F probably damaging Het
Tuba8 A G 6: 121,199,697 (GRCm39) D127G possibly damaging Het
Tulp4 A G 17: 6,248,983 (GRCm39) M1V probably null Het
Urb1 A G 16: 90,594,791 (GRCm39) L247P probably damaging Het
Usp32 A G 11: 84,916,362 (GRCm39) W861R probably damaging Het
Vmn1r48 G A 6: 90,013,360 (GRCm39) T155I probably benign Het
Vmn2r117 A G 17: 23,679,352 (GRCm39) L624P probably damaging Het
Vmn2r86 T C 10: 130,291,673 (GRCm39) R31G probably damaging Het
Vstm5 T G 9: 15,168,594 (GRCm39) S53A probably benign Het
Wnt5a T C 14: 28,244,445 (GRCm39) Y231H probably benign Het
Yeats2 T C 16: 20,012,395 (GRCm39) V531A probably damaging Het
Zw10 T C 9: 48,988,860 (GRCm39) Y709H probably damaging Het
Other mutations in Ddb1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00470:Ddb1 APN 19 10,589,028 (GRCm39) missense possibly damaging 0.85
IGL00742:Ddb1 APN 19 10,588,124 (GRCm39) missense probably benign
IGL01161:Ddb1 APN 19 10,583,071 (GRCm39) start codon destroyed probably null 1.00
IGL01364:Ddb1 APN 19 10,605,024 (GRCm39) critical splice donor site probably null
IGL01804:Ddb1 APN 19 10,590,382 (GRCm39) missense probably damaging 1.00
IGL01812:Ddb1 APN 19 10,590,382 (GRCm39) missense probably damaging 1.00
IGL02523:Ddb1 APN 19 10,604,996 (GRCm39) missense probably damaging 1.00
IGL02609:Ddb1 APN 19 10,599,830 (GRCm39) missense possibly damaging 0.93
IGL02664:Ddb1 APN 19 10,585,247 (GRCm39) missense probably benign
IGL03033:Ddb1 APN 19 10,603,290 (GRCm39) missense possibly damaging 0.59
IGL03092:Ddb1 APN 19 10,590,309 (GRCm39) missense probably damaging 1.00
IGL03110:Ddb1 APN 19 10,590,309 (GRCm39) missense probably damaging 1.00
IGL03256:Ddb1 APN 19 10,599,225 (GRCm39) missense probably benign 0.01
Dubitable UTSW 19 10,599,863 (GRCm39) critical splice donor site probably null
Indubitable UTSW 19 10,585,275 (GRCm39) critical splice donor site probably null
Van_der_waals UTSW 19 10,590,280 (GRCm39) missense probably benign 0.11
PIT4445001:Ddb1 UTSW 19 10,603,334 (GRCm39) missense probably damaging 1.00
R0028:Ddb1 UTSW 19 10,596,610 (GRCm39) missense probably damaging 1.00
R0589:Ddb1 UTSW 19 10,599,080 (GRCm39) missense probably benign 0.02
R0893:Ddb1 UTSW 19 10,590,280 (GRCm39) missense probably benign 0.11
R1374:Ddb1 UTSW 19 10,585,682 (GRCm39) missense probably damaging 1.00
R1611:Ddb1 UTSW 19 10,604,128 (GRCm39) critical splice donor site probably null
R1611:Ddb1 UTSW 19 10,590,252 (GRCm39) missense probably damaging 1.00
R1661:Ddb1 UTSW 19 10,606,444 (GRCm39) missense probably benign 0.00
R1835:Ddb1 UTSW 19 10,603,957 (GRCm39) missense probably damaging 1.00
R2036:Ddb1 UTSW 19 10,588,186 (GRCm39) splice site probably benign
R2094:Ddb1 UTSW 19 10,590,300 (GRCm39) missense probably benign
R2142:Ddb1 UTSW 19 10,596,490 (GRCm39) critical splice donor site probably null
R2213:Ddb1 UTSW 19 10,585,691 (GRCm39) missense probably damaging 1.00
R2318:Ddb1 UTSW 19 10,603,992 (GRCm39) missense probably damaging 1.00
R2354:Ddb1 UTSW 19 10,584,337 (GRCm39) missense probably benign 0.03
R3150:Ddb1 UTSW 19 10,590,346 (GRCm39) missense probably benign 0.02
R3162:Ddb1 UTSW 19 10,603,335 (GRCm39) missense probably damaging 0.99
R3606:Ddb1 UTSW 19 10,605,857 (GRCm39) missense probably damaging 1.00
R4050:Ddb1 UTSW 19 10,605,171 (GRCm39) missense probably benign 0.00
R5157:Ddb1 UTSW 19 10,599,728 (GRCm39) missense probably benign 0.01
R6244:Ddb1 UTSW 19 10,603,287 (GRCm39) missense probably damaging 0.99
R6249:Ddb1 UTSW 19 10,583,084 (GRCm39) nonsense probably null
R6812:Ddb1 UTSW 19 10,599,863 (GRCm39) critical splice donor site probably null
R7337:Ddb1 UTSW 19 10,605,195 (GRCm39) missense possibly damaging 0.88
R7460:Ddb1 UTSW 19 10,585,275 (GRCm39) critical splice donor site probably null
R7737:Ddb1 UTSW 19 10,603,338 (GRCm39) missense possibly damaging 0.93
R7903:Ddb1 UTSW 19 10,585,712 (GRCm39) missense probably benign 0.12
R8288:Ddb1 UTSW 19 10,585,712 (GRCm39) missense probably benign 0.12
R8376:Ddb1 UTSW 19 10,596,669 (GRCm39) missense probably damaging 1.00
R8970:Ddb1 UTSW 19 10,585,808 (GRCm39) missense probably benign 0.01
R9720:Ddb1 UTSW 19 10,585,724 (GRCm39) missense probably benign
RF016:Ddb1 UTSW 19 10,605,222 (GRCm39) missense probably damaging 1.00
X0050:Ddb1 UTSW 19 10,604,023 (GRCm39) missense possibly damaging 0.95
Z1088:Ddb1 UTSW 19 10,596,594 (GRCm39) missense probably damaging 0.99
Z1177:Ddb1 UTSW 19 10,585,760 (GRCm39) missense probably damaging 1.00
Predicted Primers
Posted On 2017-12-01