Incidental Mutation 'R1611:Ddb1'
ID 176834
Institutional Source Beutler Lab
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
MMRRC Submission 039648-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1611 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 10582961-10607186 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to A at 10604128 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000025649 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025649] [ENSMUST00000025649]
AlphaFold Q3U1J4
Predicted Effect probably null
Transcript: ENSMUST00000025649
SMART Domains Protein: ENSMUSP00000025649
Gene: ENSMUSG00000024740

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 null
Transcript: ENSMUST00000025649
SMART Domains Protein: ENSMUSP00000025649
Gene: ENSMUSG00000024740

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
Meta Mutation Damage Score 0.9587 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 98.0%
  • 10x: 95.2%
  • 20x: 88.9%
Validation Efficiency 97% (75/77)
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsl6 A T 11: 54,216,390 (GRCm39) I186F possibly damaging Het
Actr6 T A 10: 89,568,064 (GRCm39) K14* probably null Het
Adgrv1 A T 13: 81,707,236 (GRCm39) V1390E probably damaging Het
Akap1 C T 11: 88,736,104 (GRCm39) R186K probably benign Het
Alg10b T A 15: 90,109,984 (GRCm39) V99D probably damaging Het
Atp2c1 C T 9: 105,320,051 (GRCm39) G407S probably damaging Het
Atp9a T C 2: 168,515,489 (GRCm39) M401V probably damaging Het
Auh G A 13: 52,989,532 (GRCm39) P308L probably benign Het
Bclaf1 T C 10: 20,198,998 (GRCm39) probably benign Het
Bcr T A 10: 74,961,034 (GRCm39) probably null Het
Bivm T C 1: 44,165,907 (GRCm39) I119T possibly damaging Het
Cacna1h A G 17: 25,600,445 (GRCm39) I1632T probably damaging Het
Capn9 G A 8: 125,338,251 (GRCm39) V537M possibly damaging Het
Cdk11b G A 4: 155,726,032 (GRCm39) probably benign Het
Cdk18 T A 1: 132,050,113 (GRCm39) I21F probably damaging Het
Cep85l T C 10: 53,224,777 (GRCm39) T271A probably benign Het
Chrm5 T C 2: 112,309,532 (GRCm39) N528S possibly damaging Het
Cpsf6 T A 10: 117,197,733 (GRCm39) probably benign Het
Cpt1c T C 7: 44,609,536 (GRCm39) T689A probably benign Het
D030068K23Rik T C 8: 109,975,935 (GRCm39) Y64C unknown Het
Depdc5 C A 5: 33,148,297 (GRCm39) Q1478K probably damaging Het
Diaph1 A C 18: 38,033,755 (GRCm39) M247R unknown Het
Dnai3 T C 3: 145,801,113 (GRCm39) Y115C probably damaging Het
Dusp8 T C 7: 141,636,694 (GRCm39) S299G probably benign Het
Erbb4 C A 1: 68,079,547 (GRCm39) G1178C probably damaging Het
Exoc7 A T 11: 116,186,091 (GRCm39) I370N possibly damaging Het
Fam120a G T 13: 49,039,219 (GRCm39) A979E possibly damaging Het
Gm12353 T A 4: 19,631,843 (GRCm39) Y27* probably null Het
Gnl1 C T 17: 36,298,441 (GRCm39) T395I probably damaging Het
Hpse2 G A 19: 42,777,504 (GRCm39) T554I probably damaging Het
Hsd17b11 T C 5: 104,157,765 (GRCm39) I116V probably benign Het
Inava G A 1: 136,143,855 (GRCm39) P527L probably damaging Het
Kif24 A T 4: 41,423,552 (GRCm39) V233E probably benign Het
Klhl5 A G 5: 65,321,992 (GRCm39) T673A probably benign Het
Kmt2c C A 5: 25,564,309 (GRCm39) probably null Het
Lipg T C 18: 75,081,130 (GRCm39) N317S possibly damaging Het
Lpin1 A T 12: 16,627,219 (GRCm39) L109Q probably null Het
Lyst A G 13: 13,809,482 (GRCm39) E384G probably damaging Het
Mical2 T A 7: 111,980,671 (GRCm39) I105N probably damaging Het
Muc4 C T 16: 32,569,804 (GRCm39) T288I possibly damaging Het
Naa35 G T 13: 59,776,747 (GRCm39) R574L probably benign Het
Ncor2 T C 5: 125,187,084 (GRCm39) probably benign Het
Nedd9 T A 13: 41,470,406 (GRCm39) D249V probably benign Het
Nsg1 T A 5: 38,296,060 (GRCm39) K38* probably null Het
Nup155 T A 15: 8,159,644 (GRCm39) D518E probably damaging Het
Or5i1 T A 2: 87,612,968 (GRCm39) I28N probably benign Het
Ovol1 T A 19: 5,601,098 (GRCm39) H231L probably damaging Het
Parg A G 14: 31,960,527 (GRCm39) I586V probably damaging Het
Pde7b T C 10: 20,310,236 (GRCm39) N242S probably benign Het
Pias3 T A 3: 96,607,013 (GRCm39) probably null Het
Pramel13 A T 4: 144,119,382 (GRCm39) V395E probably benign Het
Ptprf A G 4: 118,093,430 (GRCm39) V404A probably benign Het
Rigi T C 4: 40,223,862 (GRCm39) Y339C probably damaging Het
Rnf145 T C 11: 44,442,625 (GRCm39) L259P probably damaging Het
Rps6ka5 C G 12: 100,537,111 (GRCm39) V540L possibly damaging Het
Ryr3 C T 2: 112,483,850 (GRCm39) D3966N possibly damaging Het
Samd9l A T 6: 3,373,771 (GRCm39) S1163R probably benign Het
Serpinb9g T C 13: 33,676,857 (GRCm39) I213T possibly damaging Het
Sil1 A T 18: 35,402,141 (GRCm39) V331E possibly damaging Het
Ski A G 4: 155,244,395 (GRCm39) F410S probably damaging Het
Slc25a25 C T 2: 32,310,391 (GRCm39) E123K probably damaging Het
Slfnl1 A G 4: 120,390,574 (GRCm39) E75G probably benign Het
Sp1 T A 15: 102,339,370 (GRCm39) I436N probably damaging Het
Taf4b A T 18: 14,977,526 (GRCm39) E766V probably null Het
Tgfbr1 A G 4: 47,396,526 (GRCm39) Y180C probably damaging Het
Ube4a T C 9: 44,868,035 (GRCm39) probably benign Het
Vmn2r1 T A 3: 64,011,958 (GRCm39) C606* probably null Het
Zfp341 C A 2: 154,487,623 (GRCm39) H702Q probably damaging Het
Other mutations in Ddb1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00470:Ddb1 APN 19 10,589,028 (GRCm39) missense possibly damaging 0.85
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 10,590,252 (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
Predicted Primers PCR Primer
(F):5'- GTGGCCTCTGTAGTAAGGTATGTCCA -3'
(R):5'- GAAGGTGCAGCCTCGTGTGTAAT -3'

Sequencing Primer
(F):5'- atcctcctgcctctgcc -3'
(R):5'- GGGCACCTTAGAGACTATATCTCAG -3'
Posted On 2014-04-24