Incidental Mutation 'IGL03033:Ddb1'
ID408519
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 #IGL03033
Quality Score
Status
Chromosome19
Chromosomal Location10605625-10629813 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 10625926 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 866 (V866A)
Ref Sequence ENSEMBL: ENSMUSP00000025649 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025649]
Predicted Effect possibly damaging
Transcript: ENSMUST00000025649
AA Change: V866A

PolyPhen 2 Score 0.587 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000025649
Gene: ENSMUSG00000024740
AA Change: V866A

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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1600015I10Rik A T 6: 48,932,518 T566S probably benign Het
Ap3b1 A G 13: 94,448,495 T405A probably benign Het
Bicd2 G T 13: 49,379,920 V587L probably benign Het
Bsn A T 9: 108,115,993 D853E probably damaging Het
Cacna1i C A 15: 80,362,239 N611K probably damaging Het
Capn11 A G 17: 45,642,547 L227P probably damaging Het
Copb2 A G 9: 98,570,373 N70S probably benign Het
Dst A G 1: 34,169,745 probably benign Het
Ero1lb A G 13: 12,581,670 Y117C probably damaging Het
Esyt1 T G 10: 128,516,383 R758S probably benign Het
Gm20441 A G 10: 75,771,492 F55S probably damaging Het
Gm20547 A T 17: 34,859,516 M362K probably damaging Het
Gucy1b2 A G 14: 62,415,944 V334A probably benign Het
Hnrnph3 A T 10: 63,018,179 F53L probably benign Het
Kcnk18 C T 19: 59,235,184 P254S probably benign Het
Lrfn5 T A 12: 61,840,047 L207Q probably damaging Het
Lrp3 T C 7: 35,202,627 M589V possibly damaging Het
Nlrp1b A G 11: 71,161,839 V918A probably benign Het
Nsg2 A G 11: 32,001,836 T29A probably damaging Het
Olfr66 T A 7: 103,881,517 H242L probably damaging Het
Pank4 C T 4: 154,974,715 T435I probably damaging Het
Prom1 C T 5: 44,006,160 probably null Het
Prr14 G T 7: 127,471,963 L3F probably damaging Het
Rfx7 A T 9: 72,532,989 probably benign Het
Rhbdl3 A G 11: 80,346,827 N295S probably damaging Het
Ripk3 A G 14: 55,787,165 probably benign Het
Ror1 A T 4: 100,411,895 N310I possibly damaging Het
Rpl23a T C 11: 78,181,582 Y74C possibly damaging Het
Rtp3 A T 9: 110,986,094 probably benign Het
Sbno1 A T 5: 124,376,150 N1326K probably damaging Het
Sepsecs T C 5: 52,660,676 N253S probably damaging Het
Setd2 A C 9: 110,551,275 E1386A possibly damaging Het
Sf3b3 T C 8: 110,810,964 I1211V possibly damaging Het
Sh3tc2 G A 18: 61,974,478 V187M possibly damaging Het
Slc30a6 G T 17: 74,409,378 E136* probably null Het
Sptan1 T A 2: 29,991,033 V438E probably damaging Het
Stab2 A G 10: 86,996,803 probably null Het
Sult2a1 T A 7: 13,832,710 probably benign Het
Tmem198 A G 1: 75,482,968 D189G possibly damaging Het
Tnfrsf8 C A 4: 145,292,649 L205F possibly damaging Het
Vmn1r68 T A 7: 10,528,147 E8V probably damaging Het
Wnk3 G A X: 151,276,928 D742N probably damaging Het
Xpc A T 6: 91,491,315 probably null Het
Zfp113 A T 5: 138,151,196 probably benign Het
Zfp120 A T 2: 150,119,874 D51E probably benign Het
Zfp473 C T 7: 44,733,098 V603M 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
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
R7986:Ddb1 UTSW 19 10608348 missense probably benign 0.12
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 On2016-08-02