Incidental Mutation 'R6244:Ddb1'
ID 505494
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 044435-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6244 (G1)
Quality Score 225.009
Status Validated
Chromosome 19
Chromosomal Location 10582961-10607186 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 10603287 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 865 (E865G)
Ref Sequence ENSEMBL: ENSMUSP00000025649 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025649]
AlphaFold Q3U1J4
Predicted Effect probably damaging
Transcript: ENSMUST00000025649
AA Change: E865G

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000025649
Gene: ENSMUSG00000024740
AA Change: E865G

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
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.3%
  • 20x: 95.1%
Validation Efficiency 96% (82/85)
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: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6430550D23Rik T C 2: 155,845,150 (GRCm39) H113R possibly damaging Het
Adgrf3 A T 5: 30,402,531 (GRCm39) M499K probably benign Het
Adgrv1 G A 13: 81,255,050 (GRCm39) T211I probably damaging Het
Adss2 C T 1: 177,604,395 (GRCm39) E153K probably benign Het
Ago4 C A 4: 126,405,280 (GRCm39) G431V possibly damaging Het
Araf G T X: 20,726,339 (GRCm39) R601L probably damaging Homo
Atp2b4 T A 1: 133,654,299 (GRCm39) I769F probably damaging Het
Atp9a T C 2: 168,531,272 (GRCm39) probably null Het
Bltp1 T C 3: 37,011,148 (GRCm39) V1782A probably benign Het
Brap C A 5: 121,803,372 (GRCm39) D173E probably benign Het
Brca2 G T 5: 150,490,443 (GRCm39) R3035L probably benign Het
Ccdc8 C A 7: 16,730,176 (GRCm39) P555Q probably benign Het
Ccser2 A G 14: 36,662,675 (GRCm39) S170P probably benign Het
Celsr2 T C 3: 108,300,444 (GRCm39) H860R probably damaging Het
Cenpc1 C A 5: 86,194,244 (GRCm39) R174M probably damaging Het
Cfap57 T G 4: 118,436,607 (GRCm39) I930L probably damaging Het
Cx3cr1 C T 9: 119,880,760 (GRCm39) R214H probably damaging Het
Cyp4f14 T A 17: 33,125,291 (GRCm39) H429L probably benign Het
D5Ertd579e A G 5: 36,772,620 (GRCm39) F592L probably damaging Het
Ddx50 A T 10: 62,457,345 (GRCm39) probably null Het
Dpp6 A G 5: 27,254,626 (GRCm39) T14A probably damaging Het
Echs1 C A 7: 139,692,982 (GRCm39) Q51H possibly damaging Het
Ecm2 A T 13: 49,683,783 (GRCm39) D587V probably damaging Het
Ect2l A T 10: 18,016,145 (GRCm39) Y666N possibly damaging Het
Epha2 G A 4: 141,044,223 (GRCm39) G342S probably benign Het
Fbxo33 C A 12: 59,252,865 (GRCm39) K211N probably benign Het
Fchsd2 A G 7: 100,908,983 (GRCm39) probably null Het
Fen1 A G 19: 10,178,051 (GRCm39) V131A probably damaging Het
Fetub C T 16: 22,751,081 (GRCm39) R143C probably damaging Het
Flnb A G 14: 7,892,092 (GRCm38) E587G probably damaging Het
Foxd3 A G 4: 99,545,477 (GRCm39) T206A possibly damaging Het
Fut1 A G 7: 45,268,730 (GRCm39) E228G possibly damaging Het
Galnt13 T C 2: 54,823,560 (GRCm39) F379L probably damaging Het
Gcnt2 A C 13: 41,014,717 (GRCm39) E296A probably damaging Het
Gm7145 T A 1: 117,913,870 (GRCm39) C251S probably damaging Het
Gpam G A 19: 55,059,417 (GRCm39) P810L probably damaging Het
Il1rl2 T A 1: 40,366,726 (GRCm39) L87M possibly damaging Het
Itgae A G 11: 73,036,427 (GRCm39) S1122G probably damaging Het
Kcnh7 T A 2: 63,012,570 (GRCm39) D46V probably damaging Het
Kcnn3 T G 3: 89,552,830 (GRCm39) Y511* probably null Het
Kdm3b T A 18: 34,926,058 (GRCm39) I66N probably damaging Het
Klk1b27 A T 7: 43,703,974 (GRCm39) H39L probably benign Het
Kmo C T 1: 175,487,261 (GRCm39) T404I possibly damaging Het
Krt222 C T 11: 99,125,884 (GRCm39) probably null Het
Magi3 G C 3: 103,923,013 (GRCm39) H1235D probably benign Het
Mapk8ip1 C A 2: 92,219,589 (GRCm39) G81C probably damaging Het
Med15 G A 16: 17,470,609 (GRCm39) Q583* probably null Het
Mroh2a T C 1: 88,184,476 (GRCm39) V1453A probably benign Het
Myh13 A G 11: 67,253,327 (GRCm39) M1488V probably benign Het
Naip2 A T 13: 100,288,645 (GRCm39) F1193L probably damaging Het
Nop58 T A 1: 59,742,014 (GRCm39) M181K probably damaging Het
Npepps A T 11: 97,104,616 (GRCm39) V796D probably damaging Het
Nr1d1 A G 11: 98,661,363 (GRCm39) F301S probably damaging Het
Nynrin G A 14: 56,105,485 (GRCm39) V832I probably damaging Het
Or13a28 C A 7: 140,218,346 (GRCm39) S244Y probably damaging Het
Or1j14 T A 2: 36,418,353 (GRCm39) C310S probably benign Het
Or2ak7 A T 11: 58,574,830 (GRCm39) T44S possibly damaging Het
Or4e1 T A 14: 52,701,352 (GRCm39) Y38F probably damaging Het
Or8k1 T A 2: 86,047,566 (GRCm39) T163S possibly damaging Het
Phrf1 T A 7: 140,817,586 (GRCm39) C132S probably damaging Het
Plekhn1 T C 4: 156,315,015 (GRCm39) probably null Het
Polr2a G A 11: 69,635,052 (GRCm39) T569M probably damaging Het
Prr29 A G 11: 106,267,458 (GRCm39) probably null Het
Rsf1 CG CGACGGCGGAG 7: 97,229,115 (GRCm39) probably benign Homo
Sc5d T C 9: 42,166,717 (GRCm39) E274G probably benign Het
Serpina1d A T 12: 103,731,087 (GRCm39) probably null Het
Serpinb11 T A 1: 107,299,972 (GRCm39) I106N probably damaging Het
Setd2 G A 9: 110,377,733 (GRCm39) R516K probably damaging Het
Sirt2 G T 7: 28,487,222 (GRCm39) C291F probably damaging Het
Stac3 T C 10: 127,344,044 (GRCm39) V314A probably damaging Het
Stat6 C T 10: 127,493,581 (GRCm39) probably null Het
Strn3 A G 12: 51,656,890 (GRCm39) V712A probably damaging Het
Tmc5 G T 7: 118,233,437 (GRCm39) G84C possibly damaging Het
Tnik C A 3: 28,704,328 (GRCm39) L996I probably damaging Het
Trim30d G T 7: 104,136,817 (GRCm39) T129K probably damaging Het
Triml1 G T 8: 43,591,793 (GRCm39) Y188* probably null Het
Trpc7 A G 13: 56,921,705 (GRCm39) Y760H probably damaging Het
Uaca G A 9: 60,777,326 (GRCm39) R571Q probably damaging Het
Ubash3a A T 17: 31,458,246 (GRCm39) Q575L possibly damaging Het
Usp49 T A 17: 47,983,827 (GRCm39) C61* probably null Het
Vmn2r18 A T 5: 151,508,116 (GRCm39) V336E probably damaging Het
Vwa8 T C 14: 79,324,102 (GRCm39) V1135A probably benign Het
Zcchc4 T C 5: 52,940,503 (GRCm39) V24A probably benign Het
Zfp354c A G 11: 50,705,798 (GRCm39) Y426H probably benign 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 10,604,128 (GRCm39) critical splice donor site probably null
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
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'- GTAGCTGTGTCTCAAGAGAGC -3'
(R):5'- TCCCCAAATTCCAGCTTAGAGTC -3'

Sequencing Primer
(F):5'- ACATTATATCCTGACTGCATTTTACC -3'
(R):5'- CAAATTCCAGCTTAGAGTCCATTC -3'
Posted On 2018-02-28