Incidental Mutation 'R2858:Ddb2'
| ID |
252544 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ddb2
|
| Ensembl Gene |
ENSMUSG00000002109 |
| Gene Name |
damage specific DNA binding protein 2 |
| Synonyms |
2610043A19Rik, p48 |
| MMRRC Submission |
040448-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.174)
|
| Stock # |
R2858 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
91041917-91067327 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 91047022 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 338
(T338A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028696
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002172]
[ENSMUST00000028696]
[ENSMUST00000111352]
|
| AlphaFold |
Q99J79 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000002172
|
| SMART Domains |
Protein: ENSMUSP00000002172
Gene: ENSMUSG00000002103
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
30 |
N/A |
INTRINSIC |
|
Pfam:His_Phos_2
|
54 |
330 |
1.5e-35 |
PFAM |
|
transmembrane domain
|
382 |
404 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000028696
AA Change: T338A
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000028696
Gene: ENSMUSG00000002109
AA Change: T338A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
48 |
69 |
N/A |
INTRINSIC |
|
WD40
|
100 |
140 |
1.48e-2 |
SMART |
|
WD40
|
144 |
185 |
7.92e1 |
SMART |
|
WD40
|
187 |
229 |
7.36e1 |
SMART |
|
WD40
|
231 |
271 |
3.14e-6 |
SMART |
|
WD40
|
278 |
316 |
3.55e-5 |
SMART |
|
Blast:WD40
|
379 |
419 |
1e-14 |
BLAST |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000111352
AA Change: T202A
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000106984
Gene: ENSMUSG00000002109
AA Change: T202A
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
8 |
49 |
7.92e1 |
SMART |
|
WD40
|
51 |
93 |
7.36e1 |
SMART |
|
WD40
|
95 |
135 |
3.14e-6 |
SMART |
|
WD40
|
142 |
180 |
3.55e-5 |
SMART |
|
Blast:WD40
|
243 |
283 |
3e-14 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124131
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135927
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150427
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152277
|
| Meta Mutation Damage Score |
0.2858 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.2%
|
| Validation Efficiency |
100% (37/37) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that is necessary for the repair of ultraviolet light-damaged DNA. This protein is the smaller subunit of a heterodimeric protein complex that participates in nucleotide excision repair, and this complex mediates the ubiquitylation of histones H3 and H4, which facilitates the cellular response to DNA damage. This subunit appears to be required for DNA binding. Mutations in this gene cause xeroderma pigmentosum complementation group E, a recessive disease that is characterized by an increased sensitivity to UV light and a high predisposition for skin cancer development, in some cases accompanied by neurological abnormalities. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]
PHENOTYPE: Mutant mice are prone to both spontaneous and UV-induced skin cancer. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700028K03Rik |
T |
A |
5: 107,693,667 (GRCm39) |
F95I |
probably benign |
Het |
| Abcg5 |
A |
G |
17: 84,977,648 (GRCm39) |
|
probably null |
Het |
| Amfr |
A |
T |
8: 94,731,842 (GRCm39) |
N11K |
probably damaging |
Het |
| Bltp3a |
G |
T |
17: 28,104,436 (GRCm39) |
R494L |
probably damaging |
Het |
| Cd109 |
CATTTATTTATTTATTTATTTATTTATTTATTTAT |
CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT |
9: 78,619,782 (GRCm39) |
|
probably benign |
Het |
| Cdh23 |
C |
T |
10: 60,218,432 (GRCm39) |
|
probably null |
Het |
| Chd4 |
A |
G |
6: 125,081,849 (GRCm39) |
K481R |
probably damaging |
Het |
| Cyp2a22 |
T |
C |
7: 26,633,687 (GRCm39) |
Y341C |
probably damaging |
Het |
| Fat2 |
A |
G |
11: 55,174,599 (GRCm39) |
V2038A |
possibly damaging |
Het |
| Fbxo36 |
A |
G |
1: 84,874,316 (GRCm39) |
K104R |
probably benign |
Het |
| Fmo9 |
A |
C |
1: 166,501,236 (GRCm39) |
F237C |
probably damaging |
Het |
| Helz |
G |
A |
11: 107,563,753 (GRCm39) |
|
probably benign |
Het |
| Hivep2 |
C |
A |
10: 14,004,713 (GRCm39) |
T437K |
probably benign |
Het |
| Ifit1bl1 |
A |
T |
19: 34,571,722 (GRCm39) |
I245K |
probably benign |
Het |
| Ighv1-22 |
T |
C |
12: 114,709,918 (GRCm39) |
D109G |
probably damaging |
Het |
| Kcnk10 |
T |
C |
12: 98,401,548 (GRCm39) |
R376G |
possibly damaging |
Het |
| Lrrc66 |
T |
A |
5: 73,764,646 (GRCm39) |
E799V |
probably benign |
Het |
| Lrrc7 |
T |
A |
3: 157,867,362 (GRCm39) |
N793I |
probably damaging |
Het |
| Nexn |
C |
T |
3: 151,953,680 (GRCm39) |
E247K |
probably damaging |
Het |
| Ntmt1 |
A |
G |
2: 30,712,377 (GRCm39) |
H140R |
probably damaging |
Het |
| Or11g27 |
T |
A |
14: 50,770,897 (GRCm39) |
N9K |
probably benign |
Het |
| Or3a10 |
C |
T |
11: 73,935,653 (GRCm39) |
G149D |
possibly damaging |
Het |
| Or9e1 |
T |
A |
11: 58,732,708 (GRCm39) |
V256E |
probably benign |
Het |
| Pask |
A |
G |
1: 93,249,373 (GRCm39) |
Y676H |
probably benign |
Het |
| Polq |
T |
A |
16: 36,883,115 (GRCm39) |
F1760I |
possibly damaging |
Het |
| Ppp1r1b |
T |
C |
11: 98,246,145 (GRCm39) |
|
probably benign |
Het |
| Psmf1 |
A |
G |
2: 151,571,456 (GRCm39) |
L169P |
probably damaging |
Het |
| Rcbtb1 |
T |
A |
14: 59,458,861 (GRCm39) |
|
probably null |
Het |
| S1pr4 |
C |
A |
10: 81,335,073 (GRCm39) |
A134S |
probably damaging |
Het |
| Setx |
GTGGCT |
GT |
2: 29,044,073 (GRCm39) |
1814 |
probably null |
Het |
| Slc24a1 |
T |
C |
9: 64,856,614 (GRCm39) |
I98V |
unknown |
Het |
| Slc6a21 |
G |
A |
7: 44,929,952 (GRCm39) |
A147T |
possibly damaging |
Het |
| Sycp3 |
A |
G |
10: 88,303,234 (GRCm39) |
E166G |
probably damaging |
Het |
| Vmn2r82 |
T |
A |
10: 79,217,090 (GRCm39) |
I474N |
probably damaging |
Het |
| Zfp1007 |
T |
C |
5: 109,823,819 (GRCm39) |
T544A |
probably benign |
Het |
|
| Other mutations in Ddb2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0054:Ddb2
|
UTSW |
2 |
91,065,165 (GRCm39) |
missense |
probably benign |
0.14 |
|
R0054:Ddb2
|
UTSW |
2 |
91,065,165 (GRCm39) |
missense |
probably benign |
0.14 |
|
R1537:Ddb2
|
UTSW |
2 |
91,065,234 (GRCm39) |
missense |
probably benign |
|
|
R1679:Ddb2
|
UTSW |
2 |
91,064,595 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1707:Ddb2
|
UTSW |
2 |
91,064,554 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4797:Ddb2
|
UTSW |
2 |
91,067,163 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R4985:Ddb2
|
UTSW |
2 |
91,042,643 (GRCm39) |
splice site |
probably null |
|
|
R5256:Ddb2
|
UTSW |
2 |
91,067,073 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5666:Ddb2
|
UTSW |
2 |
91,042,926 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5670:Ddb2
|
UTSW |
2 |
91,042,926 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5768:Ddb2
|
UTSW |
2 |
91,042,337 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R7324:Ddb2
|
UTSW |
2 |
91,067,229 (GRCm39) |
start gained |
probably benign |
|
|
R8296:Ddb2
|
UTSW |
2 |
91,042,645 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9123:Ddb2
|
UTSW |
2 |
91,064,593 (GRCm39) |
nonsense |
probably null |
|
|
R9125:Ddb2
|
UTSW |
2 |
91,064,593 (GRCm39) |
nonsense |
probably null |
|
|
R9323:Ddb2
|
UTSW |
2 |
91,042,337 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R9326:Ddb2
|
UTSW |
2 |
91,047,559 (GRCm39) |
missense |
probably benign |
0.16 |
|
R9525:Ddb2
|
UTSW |
2 |
91,065,180 (GRCm39) |
missense |
probably benign |
|
|
R9556:Ddb2
|
UTSW |
2 |
91,065,202 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ATCGATGCTAGGCTGAAAAGTTTAG -3'
(R):5'- AGGCTTCCTTCAGCTTAAGGG -3'
Sequencing Primer
(F):5'- GGTGCATGCCTTTAACACCAG -3'
(R):5'- AAGGGCTTTTCACTTTGTCAGC -3'
|
| Posted On |
2014-12-04 |
Incidental Mutation