Incidental Mutation 'IGL00470:Ddb1'
ID 3242
Institutional Source Australian Phenomics Network (link to record)
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
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL00470
Quality Score
Chromosome 19
Chromosomal Location 10582961-10607186 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 10589028 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 229 (A229T)
Ref Sequence ENSEMBL: ENSMUSP00000025649 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025649]
AlphaFold Q3U1J4
Predicted Effect possibly damaging
Transcript: ENSMUST00000025649
AA Change: A229T

PolyPhen 2 Score 0.854 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000025649
Gene: ENSMUSG00000024740
AA Change: A229T

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
Coding Region Coverage
Validation Efficiency
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4732463B04Rik G T 12: 84,090,578 (GRCm39) probably benign Het
Abcd1 T C X: 72,761,154 (GRCm39) L173P probably damaging Het
Adam18 T A 8: 25,118,149 (GRCm39) D41V probably damaging Het
Armh4 A T 14: 50,010,460 (GRCm39) S416T probably damaging Het
Aspa T G 11: 73,204,447 (GRCm39) probably benign Het
Cacna2d1 T A 5: 16,451,654 (GRCm39) probably benign Het
Cracd G A 5: 77,013,903 (GRCm39) probably benign Het
Cubn T A 2: 13,283,229 (GRCm39) I3570L probably benign Het
Cyp2j13 G A 4: 95,950,275 (GRCm39) P242L probably damaging Het
Cysrt1 T C 2: 25,129,513 (GRCm39) probably benign Het
Dchs1 A T 7: 105,407,414 (GRCm39) L2100H probably damaging Het
Dst A T 1: 34,228,043 (GRCm39) I1554F probably damaging Het
Dvl3 C T 16: 20,349,689 (GRCm39) P554L probably damaging Het
Fcgbp C A 7: 27,774,511 (GRCm39) C28* probably null Het
Gm773 T C X: 55,247,373 (GRCm39) D53G probably benign Het
Hhat A G 1: 192,399,325 (GRCm39) Y272H probably damaging Het
Inpp5k T C 11: 75,536,351 (GRCm39) S310P probably benign Het
Kat2a G A 11: 100,596,210 (GRCm39) R782W probably damaging Het
Kcnh5 T C 12: 74,944,570 (GRCm39) D893G probably benign Het
Lama2 T C 10: 27,119,738 (GRCm39) T709A probably benign Het
Mcm8 G A 2: 132,669,457 (GRCm39) V281I probably benign Het
Men1 G A 19: 6,387,237 (GRCm39) probably null Het
Nup133 T G 8: 124,665,822 (GRCm39) D201A probably damaging Het
Oxct2a A G 4: 123,217,183 (GRCm39) L66P possibly damaging Het
Pcbp2 C T 15: 102,399,148 (GRCm39) A224V probably damaging Het
Phf8-ps T A 17: 33,284,837 (GRCm39) H655L probably benign Het
Pla2g4e G A 2: 120,015,719 (GRCm39) S275F probably benign Het
Pxk T C 14: 8,130,754 (GRCm38) F118L probably damaging Het
Sp2 C T 11: 96,845,387 (GRCm39) R578H probably damaging Het
Sphkap A G 1: 83,255,631 (GRCm39) M706T possibly damaging Het
Tars3 T C 7: 65,338,656 (GRCm39) M689T probably benign Het
Trrap T C 5: 144,754,848 (GRCm39) V2008A probably damaging Het
Txndc2 A T 17: 65,945,569 (GRCm39) S203T probably benign Het
Txnrd1 T G 10: 82,711,496 (GRCm39) D42E probably damaging Het
Zswim8 G A 14: 20,773,249 (GRCm39) D1746N probably damaging Het
Other mutations in Ddb1
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Posted On 2012-04-20