Incidental Mutation 'IGL01804:Ddb1'
ID278931
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 #IGL01804
Quality Score
Status
Chromosome19
Chromosomal Location10605625-10629813 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 10613018 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Alanine at position 303 (E303A)
Ref Sequence ENSEMBL: ENSMUSP00000025649 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025649]
Predicted Effect probably damaging
Transcript: ENSMUST00000025649
AA Change: E303A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000025649
Gene: ENSMUSG00000024740
AA Change: E303A

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
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 T C 1: 71,276,183 N1860D probably benign Het
Abca2 T A 2: 25,446,625 C2248S probably damaging Het
Adamts16 G A 13: 70,800,961 Q194* probably null Het
Cetn3 A T 13: 81,784,660 K13* probably null Het
Cldn18 T A 9: 99,698,848 K116* probably null Het
Cntn5 T A 9: 9,831,537 I613F probably damaging Het
Cyp46a1 A G 12: 108,355,486 I324V probably benign Het
Dnajc2 A G 5: 21,757,363 V539A probably damaging Het
Dock2 T A 11: 34,262,433 Y1236F probably benign Het
Dpf1 T A 7: 29,316,501 C383S probably damaging Het
Edc4 T A 8: 105,890,657 I1052N possibly damaging Het
Ehmt1 A G 2: 24,791,954 L1243P probably damaging Het
Exoc6b A G 6: 84,908,166 S264P probably damaging Het
Gbx2 T C 1: 89,928,981 E229G probably benign Het
Hip1r T A 5: 124,001,550 probably null Het
Lig1 A G 7: 13,309,206 K859E probably benign Het
Ly6g6f T C 17: 35,081,170 D234G possibly damaging Het
Mmp11 G T 10: 75,928,470 L54I probably benign Het
Naip5 A T 13: 100,221,584 L1048Q probably damaging Het
Olfr1228 C A 2: 89,249,222 M157I probably benign Het
Olfr146 T C 9: 39,019,401 I47V probably benign Het
Olfr427 A G 1: 174,099,835 I126V probably damaging Het
Olfr834 T A 9: 18,988,840 M284K probably benign Het
Pappa2 T C 1: 158,936,519 D474G probably benign Het
Plxna1 A G 6: 89,329,646 Y1401H probably damaging Het
Prrg4 T A 2: 104,832,690 E190D probably damaging Het
Rnf213 T C 11: 119,442,266 F2767S probably damaging Het
Scgb1b2 T A 7: 31,291,730 probably benign Het
Sec31a A G 5: 100,375,206 probably null Het
Slc12a4 A G 8: 105,944,401 S1014P probably damaging Het
Spns2 A T 11: 72,457,304 I279N possibly damaging Het
Spta1 A T 1: 174,244,180 H2242L probably benign Het
Tcaf3 T A 6: 42,597,129 I50F probably damaging Het
Tnfaip8l1 G A 17: 56,172,214 S168N probably benign Het
Trak1 C T 9: 121,442,685 probably benign Het
Trpv4 A T 5: 114,644,786 N38K possibly damaging Het
Ube2o T C 11: 116,544,373 T530A probably benign Het
Vmn2r2 A G 3: 64,134,256 V346A possibly damaging Het
Vmn2r86 A C 10: 130,452,989 D214E probably damaging Het
Wwc1 C A 11: 35,841,924 D986Y probably damaging Het
Xdh T C 17: 73,892,759 D1184G probably damaging 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
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
IGL02664:Ddb1 APN 19 10607883 missense probably benign
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