Incidental Mutation 'R2213:Ddb1'
| ID |
239563 |
| 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 |
040215-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2213 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
10582961-10607186 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 10585691 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 135
(L135P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025649
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025649]
[ENSMUST00000037678]
|
| AlphaFold |
Q3U1J4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000025649
AA Change: L135P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000025649
Gene: ENSMUSG00000024740
AA Change: L135P
| Domain | Start | End | E-Value | Type |
|---|
|
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 benign
Transcript: ENSMUST00000037678
|
| SMART Domains |
Protein: ENSMUSP00000044556
Gene: ENSMUSG00000034371
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Dak1
|
19 |
335 |
1.9e-112 |
PFAM |
|
low complexity region
|
352 |
366 |
N/A |
INTRINSIC |
|
Dak2
|
398 |
571 |
1.47e-58 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akr1c12 |
T |
C |
13: 4,326,247 (GRCm39) |
D78G |
probably damaging |
Het |
| Anxa1 |
C |
T |
19: 20,360,239 (GRCm39) |
R124H |
probably damaging |
Het |
| Arhgef4 |
G |
A |
1: 34,846,230 (GRCm39) |
|
probably null |
Het |
| C87436 |
G |
A |
6: 86,422,455 (GRCm39) |
V10I |
probably benign |
Het |
| Ces1a |
G |
T |
8: 93,751,853 (GRCm39) |
P427Q |
probably damaging |
Het |
| Cpm |
T |
C |
10: 117,495,744 (GRCm39) |
Y78H |
probably damaging |
Het |
| Csmd3 |
G |
A |
15: 47,683,843 (GRCm39) |
T1663I |
possibly damaging |
Het |
| Cul7 |
T |
C |
17: 46,962,398 (GRCm39) |
F10L |
probably damaging |
Het |
| Cyp2j5 |
T |
C |
4: 96,547,852 (GRCm39) |
N130S |
probably benign |
Het |
| Dclk1 |
G |
A |
3: 55,387,854 (GRCm39) |
C100Y |
probably damaging |
Het |
| Dixdc1 |
A |
G |
9: 50,613,245 (GRCm39) |
S211P |
probably benign |
Het |
| Dnah12 |
G |
T |
14: 26,460,485 (GRCm39) |
K970N |
probably benign |
Het |
| Eps15 |
A |
G |
4: 109,218,417 (GRCm39) |
K391E |
probably damaging |
Het |
| Fabp9 |
A |
G |
3: 10,259,860 (GRCm39) |
V51A |
probably damaging |
Het |
| Flg |
T |
C |
3: 93,200,335 (GRCm39) |
|
probably benign |
Het |
| Flnb |
AAGGAG |
AAG |
14: 7,881,652 (GRCm38) |
|
probably benign |
Het |
| Fscb |
A |
T |
12: 64,520,890 (GRCm39) |
I192N |
possibly damaging |
Het |
| Galntl5 |
A |
G |
5: 25,422,527 (GRCm39) |
I333V |
probably benign |
Het |
| Gcnt3 |
A |
T |
9: 69,941,989 (GRCm39) |
V193E |
probably benign |
Het |
| Gle1 |
T |
C |
2: 29,839,313 (GRCm39) |
F535S |
probably damaging |
Het |
| Gpr87 |
A |
T |
3: 59,086,465 (GRCm39) |
S347T |
probably damaging |
Het |
| Gstm2 |
C |
T |
3: 107,893,409 (GRCm39) |
R18H |
probably damaging |
Het |
| H1f7 |
T |
A |
15: 98,154,219 (GRCm39) |
Q310L |
unknown |
Het |
| Haus6 |
C |
T |
4: 86,500,229 (GRCm39) |
E927K |
possibly damaging |
Het |
| Hunk |
A |
G |
16: 90,229,505 (GRCm39) |
N122S |
probably damaging |
Het |
| Itih4 |
T |
A |
14: 30,612,670 (GRCm39) |
V232E |
probably damaging |
Het |
| Jag1 |
G |
T |
2: 136,931,812 (GRCm39) |
D586E |
probably benign |
Het |
| Klk1b1 |
T |
C |
7: 43,619,905 (GRCm39) |
S155P |
probably damaging |
Het |
| Lama1 |
G |
T |
17: 68,084,029 (GRCm39) |
G1424* |
probably null |
Het |
| Lrp1 |
T |
A |
10: 127,376,571 (GRCm39) |
N4279I |
probably damaging |
Het |
| Lrrc43 |
G |
A |
5: 123,641,640 (GRCm39) |
V525I |
possibly damaging |
Het |
| Lrrc4c |
G |
A |
2: 97,460,816 (GRCm39) |
V481M |
probably benign |
Het |
| Mecr |
T |
A |
4: 131,581,126 (GRCm39) |
|
probably null |
Het |
| Megf10 |
T |
A |
18: 57,421,081 (GRCm39) |
Y906* |
probably null |
Het |
| Mpdz |
A |
G |
4: 81,228,409 (GRCm39) |
F1319L |
probably damaging |
Het |
| Mtf2 |
A |
G |
5: 108,248,780 (GRCm39) |
E364G |
possibly damaging |
Het |
| Nelfe |
T |
A |
17: 35,072,859 (GRCm39) |
D160E |
probably benign |
Het |
| Nin |
A |
G |
12: 70,092,128 (GRCm39) |
L727P |
probably damaging |
Het |
| Npat |
A |
G |
9: 53,463,681 (GRCm39) |
T155A |
probably benign |
Het |
| Nup58 |
T |
C |
14: 60,476,945 (GRCm39) |
D242G |
probably benign |
Het |
| Or4a78 |
A |
T |
2: 89,497,891 (GRCm39) |
L113Q |
probably damaging |
Het |
| Pnlip |
T |
C |
19: 58,662,202 (GRCm39) |
V116A |
probably benign |
Het |
| Prl7a2 |
T |
A |
13: 27,849,051 (GRCm39) |
L79F |
probably benign |
Het |
| Rbm25 |
A |
T |
12: 83,722,856 (GRCm39) |
I760L |
probably benign |
Het |
| Rbms3 |
A |
T |
9: 116,788,534 (GRCm39) |
|
probably null |
Het |
| Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
| Rps10 |
C |
A |
17: 27,849,473 (GRCm39) |
|
probably benign |
Het |
| Slc35e4 |
T |
C |
11: 3,863,159 (GRCm39) |
E10G |
possibly damaging |
Het |
| Smad2 |
A |
T |
18: 76,437,697 (GRCm39) |
T434S |
probably damaging |
Het |
| Sox30 |
C |
T |
11: 45,875,679 (GRCm39) |
S477F |
probably damaging |
Het |
| Speer4a3 |
G |
T |
5: 26,158,175 (GRCm39) |
T59K |
probably benign |
Het |
| Stat4 |
A |
T |
1: 52,053,014 (GRCm39) |
D65V |
probably damaging |
Het |
| Strip2 |
A |
G |
6: 29,931,147 (GRCm39) |
D366G |
probably damaging |
Het |
| Syngap1 |
C |
A |
17: 27,172,043 (GRCm39) |
R84S |
probably damaging |
Het |
| Synpo2l |
A |
G |
14: 20,710,734 (GRCm39) |
Y629H |
probably damaging |
Het |
| Taf4 |
A |
T |
2: 179,577,683 (GRCm39) |
|
probably null |
Het |
| Ttc21a |
A |
G |
9: 119,769,527 (GRCm39) |
H68R |
probably benign |
Het |
| Txndc8 |
T |
A |
4: 57,984,199 (GRCm39) |
Q144L |
probably benign |
Het |
| Tyr |
T |
G |
7: 87,142,086 (GRCm39) |
Q158P |
probably damaging |
Het |
| Uchl3 |
T |
A |
14: 101,904,106 (GRCm39) |
|
probably null |
Het |
| Vwa5b1 |
T |
C |
4: 138,332,123 (GRCm39) |
K298R |
probably benign |
Het |
| Wrn |
T |
C |
8: 33,747,043 (GRCm39) |
N891S |
probably benign |
Het |
| Ylpm1 |
A |
G |
12: 85,116,492 (GRCm39) |
S2125G |
probably benign |
Het |
|
| Other mutations in Ddb1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
|
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'- ACGACAATGTGCTCATGTTTGG -3'
(R):5'- TCCTTTGGCAAGCATCCCAC -3'
Sequencing Primer
(F):5'- TGGGTGGTCTTATAACCTATATCTGC -3'
(R):5'- ATCATTCCAAACCAGCTTCTCC -3'
|
| Posted On |
2014-10-15 |
Incidental Mutation