Incidental Mutation 'IGL03256:Ddb1'
ID 414663
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ddb1
Ensembl Gene ENSMUSG00000024740
Gene Name damage specific DNA binding protein 1
Synonyms DNA 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 # IGL03256
Quality Score
Status
Chromosome 19
Chromosomal Location 10605625-10629813 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 10621861 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 544 (T544A)
Ref Sequence ENSEMBL: ENSMUSP00000025649 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025649]
AlphaFold Q3U1J4
Predicted Effect probably benign
Transcript: ENSMUST00000025649
AA Change: T544A

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000025649
Gene: ENSMUSG00000024740
AA Change: T544A

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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700030K09Rik C T 8: 72,445,199 T150I probably benign Het
4932438A13Rik T C 3: 36,906,683 probably benign Het
Adam2 T C 14: 66,053,831 N333D probably benign Het
Aifm3 G A 16: 17,506,310 R578Q probably benign Het
Arid2 C A 15: 96,370,762 Q919K probably benign Het
Atp6v1a T C 16: 44,111,088 probably benign Het
Bicd1 A T 6: 149,513,585 T599S probably benign Het
Catsperg2 T A 7: 29,709,874 R601W probably damaging Het
Clca2 A C 3: 145,086,392 S369R possibly damaging Het
Cyfip1 T G 7: 55,907,434 V795G possibly damaging Het
Defb43 T C 14: 63,017,880 I54T probably damaging Het
Dera A G 6: 137,779,645 M89V probably benign Het
Fam227b T A 2: 125,989,003 K427I probably damaging Het
Frk A G 10: 34,607,842 I400V probably benign Het
Gk5 T A 9: 96,129,053 L72H probably damaging Het
Gprc6a T A 10: 51,628,349 Y133F possibly damaging Het
Hecw1 A G 13: 14,280,484 L662P probably damaging Het
Hecw1 G T 13: 14,280,485 L662M probably benign Het
Il12b T A 11: 44,407,930 S71T probably benign Het
Kdm2a A T 19: 4,345,510 probably benign Het
Lhfp A G 3: 53,043,553 R83G possibly damaging Het
Magel2 C A 7: 62,380,414 T1022K unknown Het
Mycbp2 C A 14: 103,188,589 V2367F possibly damaging Het
Nap1l3 C T X: 122,396,208 G271D probably benign Het
Nars2 T A 7: 97,039,910 D346E possibly damaging Het
Nek11 T A 9: 105,244,414 E435D probably damaging Het
Nfam1 C T 15: 83,010,410 G205R probably benign Het
Olfr1474 T A 19: 13,471,267 M99K probably damaging Het
Olfr395 A T 11: 73,906,696 N265K probably benign Het
Olfr433 T C 1: 174,042,208 L86P probably damaging Het
Otud3 G A 4: 138,909,617 R78W probably damaging Het
Oxct2a C T 4: 123,322,965 A208T probably damaging Het
Pcdh11x A T X: 120,400,910 E683D probably benign Het
Phtf2 C A 5: 20,803,252 V144L probably damaging Het
Pkn2 T C 3: 142,803,550 probably null Het
Puf60 T A 15: 76,070,596 D459V possibly damaging Het
Ralgapa2 A G 2: 146,460,712 probably null Het
Rapgef6 A C 11: 54,657,429 Q813P probably damaging Het
Rsf1 A T 7: 97,679,004 D1071V possibly damaging Het
Sctr T C 1: 120,031,559 probably benign Het
Serpini1 A G 3: 75,619,174 I244M probably benign Het
Tada2a C A 11: 84,087,192 probably benign Het
Tada3 A T 6: 113,375,131 H112Q possibly damaging Het
Tnxb T A 17: 34,688,720 L1246Q probably damaging Het
Txndc16 T C 14: 45,151,896 N449S probably damaging Het
Usp34 T A 11: 23,420,090 Y1771* probably null Het
Vav2 A T 2: 27,271,900 probably null Het
Virma T C 4: 11,542,207 probably benign Het
Vmn1r78 T A 7: 12,152,798 I112N probably damaging Het
Vnn3 A T 10: 23,851,800 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
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
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
R8970:Ddb1 UTSW 19 10608444 missense probably benign 0.01
R9720:Ddb1 UTSW 19 10608360 missense probably benign
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 On 2016-08-02