Incidental Mutation 'IGL02664:Ddb1'
ID302665
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ddb1
Ensembl Gene ENSMUSG00000024740
Gene Namedamage specific DNA binding protein 1
SynonymsDNA repair protein, p127-Ddb1, damage-specific DNA-binding protein, DNA repair
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02664
Quality Score
Status
Chromosome19
Chromosomal Location10605625-10629813 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 10607883 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Valine at position 101 (I101V)
Ref Sequence ENSEMBL: ENSMUSP00000025649 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025649] [ENSMUST00000037678]
Predicted Effect probably benign
Transcript: ENSMUST00000025649
AA Change: I101V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000025649
Gene: ENSMUSG00000024740
AA Change: I101V

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
Predicted Effect probably benign
Transcript: ENSMUST00000037678
SMART Domains Protein: ENSMUSP00000044556
Gene: ENSMUSG00000034371

DomainStartEndE-ValueType
Pfam:Dak1 19 335 1.9e-112 PFAM
low complexity region 352 366 N/A INTRINSIC
Dak2 398 571 1.47e-58 SMART
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim2 A T 5: 35,849,516 D425V probably damaging Het
Afdn G T 17: 13,852,466 probably benign Het
Ap2a2 C T 7: 141,629,223 T776I probably benign Het
Apcdd1 T C 18: 62,951,820 probably benign Het
Bdp1 A T 13: 100,051,539 Y1513N probably benign Het
Btaf1 T C 19: 36,978,428 probably benign Het
C2cd3 A T 7: 100,419,715 M917L possibly damaging Het
Cmtm6 T C 9: 114,746,545 V174A probably benign Het
Cyp2d12 T A 15: 82,559,334 I448K probably benign Het
Dicer1 A G 12: 104,705,129 Y961H probably damaging Het
Dnaaf1 T G 8: 119,582,521 I116S probably damaging Het
Ecscr T A 18: 35,721,398 I5F possibly damaging Het
Eftud2 T C 11: 102,841,712 E691G probably damaging Het
Fat2 A G 11: 55,311,096 V384A probably damaging Het
Ftcd T C 10: 76,584,605 M391T probably damaging Het
Gab2 T G 7: 97,304,182 S587R probably damaging Het
Gm18856 G A 13: 13,965,224 probably benign Het
Herc2 A T 7: 56,135,678 R1559* probably null Het
Inpp5f G A 7: 128,664,014 R161H probably damaging Het
Iws1 A T 18: 32,070,164 D31V possibly damaging Het
Klhl2 A T 8: 64,752,767 Y373* probably null Het
Lce6a A T 3: 92,620,300 C67S possibly damaging Het
Lrba A G 3: 86,325,731 I800V possibly damaging Het
Mis18bp1 A C 12: 65,153,880 Y407* probably null Het
Mllt3 A C 4: 88,031,623 W29G probably damaging Het
Mon2 A G 10: 123,009,496 probably benign Het
Mtbp C T 15: 55,619,643 T372M probably benign Het
Nefm A T 14: 68,120,215 probably benign Het
Nf1 A T 11: 79,444,598 probably null Het
Nf1 G A 11: 79,444,599 probably null Het
Ntn1 T A 11: 68,385,469 I218F probably benign Het
Numa1 T G 7: 101,998,902 S613R possibly damaging Het
Olfr305 C T 7: 86,363,603 V245I possibly damaging Het
Pcsk5 A T 19: 17,456,770 D1411E probably damaging Het
Ppp1r32 A T 19: 10,482,291 S17R probably damaging Het
Prl2b1 G T 13: 27,385,242 N124K possibly damaging Het
Rab15 T C 12: 76,804,451 I30M possibly damaging Het
Rnf215 G T 11: 4,140,307 V342L probably damaging Het
Spata5 A G 3: 37,436,665 D453G probably damaging Het
Togaram2 T A 17: 71,729,239 I908N probably damaging Het
Trim54 A G 5: 31,136,047 N205S probably damaging Het
Ttn G A 2: 76,867,451 T80I possibly damaging Het
Vmn2r106 G A 17: 20,268,082 T685I possibly damaging Het
Vwa5b2 T C 16: 20,595,313 probably benign Het
Zfat A T 15: 68,180,721 I401N probably damaging Het
Zfp40 G A 17: 23,176,986 S209F probably benign Het
Other mutations in Ddb1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00470:Ddb1 APN 19 10611664 missense possibly damaging 0.85
IGL00742:Ddb1 APN 19 10610760 missense probably benign
IGL01161:Ddb1 APN 19 10605707 start codon destroyed probably null 1.00
IGL01364:Ddb1 APN 19 10627660 critical splice donor site probably null
IGL01804:Ddb1 APN 19 10613018 missense probably damaging 1.00
IGL01812:Ddb1 APN 19 10613018 missense probably damaging 1.00
IGL02523:Ddb1 APN 19 10627632 missense probably damaging 1.00
IGL02609:Ddb1 APN 19 10622466 missense possibly damaging 0.93
IGL03033:Ddb1 APN 19 10625926 missense possibly damaging 0.59
IGL03092:Ddb1 APN 19 10612945 missense probably damaging 1.00
IGL03110:Ddb1 APN 19 10612945 missense probably damaging 1.00
IGL03256:Ddb1 APN 19 10621861 missense probably benign 0.01
Dubitable UTSW 19 10622499 critical splice donor site probably null
Indubitable UTSW 19 10607911 critical splice donor site probably null
Van_der_waals UTSW 19 10612916 missense probably benign 0.11
PIT4445001:Ddb1 UTSW 19 10625970 missense probably damaging 1.00
R0028:Ddb1 UTSW 19 10619246 missense probably damaging 1.00
R0589:Ddb1 UTSW 19 10621716 missense probably benign 0.02
R0893:Ddb1 UTSW 19 10612916 missense probably benign 0.11
R1374:Ddb1 UTSW 19 10608318 missense probably damaging 1.00
R1611:Ddb1 UTSW 19 10612888 missense probably damaging 1.00
R1611:Ddb1 UTSW 19 10626764 critical splice donor site probably null
R1661:Ddb1 UTSW 19 10629080 missense probably benign 0.00
R1835:Ddb1 UTSW 19 10626593 missense probably damaging 1.00
R2036:Ddb1 UTSW 19 10610822 splice site probably benign
R2094:Ddb1 UTSW 19 10612936 missense probably benign
R2142:Ddb1 UTSW 19 10619126 critical splice donor site probably null
R2213:Ddb1 UTSW 19 10608327 missense probably damaging 1.00
R2318:Ddb1 UTSW 19 10626628 missense probably damaging 1.00
R2354:Ddb1 UTSW 19 10606973 missense probably benign 0.03
R3150:Ddb1 UTSW 19 10612982 missense probably benign 0.02
R3162:Ddb1 UTSW 19 10625971 missense probably damaging 0.99
R3162:Ddb1 UTSW 19 10625971 missense probably damaging 0.99
R3606:Ddb1 UTSW 19 10628493 missense probably damaging 1.00
R4050:Ddb1 UTSW 19 10627807 missense probably benign 0.00
R5157:Ddb1 UTSW 19 10622364 missense probably benign 0.01
R6244:Ddb1 UTSW 19 10625923 missense probably damaging 0.99
R6249:Ddb1 UTSW 19 10605720 nonsense probably null
R6812:Ddb1 UTSW 19 10622499 critical splice donor site probably null
R7337:Ddb1 UTSW 19 10627831 missense possibly damaging 0.88
R7460:Ddb1 UTSW 19 10607911 critical splice donor site probably null
R7737:Ddb1 UTSW 19 10625974 missense possibly damaging 0.93
R7903:Ddb1 UTSW 19 10608348 missense probably benign 0.12
R8288:Ddb1 UTSW 19 10608348 missense probably benign 0.12
R8376:Ddb1 UTSW 19 10619305 missense probably damaging 1.00
RF016:Ddb1 UTSW 19 10627858 missense probably damaging 1.00
X0050:Ddb1 UTSW 19 10626659 missense possibly damaging 0.95
Z1088:Ddb1 UTSW 19 10619230 missense probably damaging 0.99
Z1177:Ddb1 UTSW 19 10608396 missense probably damaging 1.00
Posted On2015-04-16