Incidental Mutation 'IGL01304:Rad52'
| ID |
73361 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Rad52
|
| Ensembl Gene |
ENSMUSG00000030166 |
| Gene Name |
RAD52 homolog, DNA repair protein |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.271)
|
| Stock # |
IGL01304
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
119879659-119899789 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 119895594 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 198
(E198G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125502
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032269]
[ENSMUST00000161045]
[ENSMUST00000162461]
|
| AlphaFold |
P43352 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000032269
AA Change: E198G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000032269
Gene: ENSMUSG00000030166
AA Change: E198G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Rad52_Rad22
|
36 |
185 |
2.4e-56 |
PFAM |
|
low complexity region
|
262 |
276 |
N/A |
INTRINSIC |
|
low complexity region
|
288 |
301 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159291
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160558
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160877
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161045
|
| SMART Domains |
Protein: ENSMUSP00000125559
Gene: ENSMUSG00000030166
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:1H2I|V
|
1 |
64 |
2e-26 |
PDB |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161816
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161860
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000162461
AA Change: E198G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000125502
Gene: ENSMUSG00000030166
AA Change: E198G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Rad52_Rad22
|
36 |
184 |
6.6e-51 |
PFAM |
|
low complexity region
|
262 |
276 |
N/A |
INTRINSIC |
|
low complexity region
|
288 |
301 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204319
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162590
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162205
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162255
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162009
|
| 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 shares similarity with Saccharomyces cerevisiae Rad52, a protein important for DNA double-strand break repair and homologous recombination. This gene product was shown to bind single-stranded DNA ends, and mediate the DNA-DNA interaction necessary for the annealing of complementary DNA strands. It was also found to interact with DNA recombination protein RAD51, which suggested its role in RAD51 related DNA recombination and repair. A pseudogene of this gene is present on chromosome 2. Alternative splicing results in multiple transcript variants. Additional alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Jul 2014]
PHENOTYPE: Mice homozygous for a null allele exhibit normal reproductive and immune systems. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ablim1 |
A |
T |
19: 57,204,153 (GRCm39) |
D79E |
probably benign |
Het |
| Aplf |
A |
C |
6: 87,618,882 (GRCm39) |
S421A |
possibly damaging |
Het |
| Arnt |
T |
G |
3: 95,355,696 (GRCm39) |
D13E |
probably damaging |
Het |
| Asap1 |
T |
C |
15: 64,184,298 (GRCm39) |
E45G |
probably damaging |
Het |
| C2cd2l |
T |
C |
9: 44,230,884 (GRCm39) |
N101S |
probably damaging |
Het |
| Cby2 |
T |
A |
14: 75,830,085 (GRCm39) |
D36V |
possibly damaging |
Het |
| Chmp7 |
G |
A |
14: 69,956,062 (GRCm39) |
P402L |
probably benign |
Het |
| Cir1 |
A |
T |
2: 73,118,068 (GRCm39) |
|
probably null |
Het |
| Clock |
A |
G |
5: 76,414,202 (GRCm39) |
|
probably null |
Het |
| Col18a1 |
T |
G |
10: 76,911,975 (GRCm39) |
|
probably benign |
Het |
| Csf2ra |
G |
A |
19: 61,215,271 (GRCm39) |
H115Y |
possibly damaging |
Het |
| Cspg5 |
T |
A |
9: 110,085,236 (GRCm39) |
L469H |
probably damaging |
Het |
| Dapk2 |
T |
C |
9: 66,139,139 (GRCm39) |
|
probably benign |
Het |
| F13a1 |
T |
C |
13: 37,172,852 (GRCm39) |
D176G |
probably benign |
Het |
| Fbn2 |
T |
C |
18: 58,194,817 (GRCm39) |
E1448G |
probably damaging |
Het |
| Gtf2b |
C |
T |
3: 142,487,359 (GRCm39) |
S265L |
probably benign |
Het |
| Hmcn1 |
C |
T |
1: 150,498,675 (GRCm39) |
G4068D |
probably damaging |
Het |
| Krt81 |
G |
A |
15: 101,361,269 (GRCm39) |
H104Y |
probably benign |
Het |
| Ksr1 |
T |
C |
11: 78,918,468 (GRCm39) |
Q562R |
probably damaging |
Het |
| Lrif1 |
C |
T |
3: 106,639,049 (GRCm39) |
P20S |
probably damaging |
Het |
| Mamdc4 |
T |
C |
2: 25,453,588 (GRCm39) |
T1194A |
possibly damaging |
Het |
| Med18 |
C |
A |
4: 132,186,930 (GRCm39) |
A190S |
probably damaging |
Het |
| Mia2 |
G |
A |
12: 59,151,324 (GRCm39) |
E105K |
probably damaging |
Het |
| Mnt |
T |
A |
11: 74,733,011 (GRCm39) |
Y48N |
probably damaging |
Het |
| Mpp4 |
A |
C |
1: 59,188,678 (GRCm39) |
|
probably null |
Het |
| Or4b1b |
G |
A |
2: 90,112,425 (GRCm39) |
P165S |
possibly damaging |
Het |
| Popdc3 |
T |
G |
10: 45,194,005 (GRCm39) |
S269A |
probably benign |
Het |
| Ppp6r3 |
A |
T |
19: 3,517,261 (GRCm39) |
M662K |
probably damaging |
Het |
| Qser1 |
C |
A |
2: 104,617,976 (GRCm39) |
Q945H |
probably damaging |
Het |
| Ranbp17 |
A |
G |
11: 33,216,147 (GRCm39) |
V867A |
possibly damaging |
Het |
| Rdh16 |
G |
T |
10: 127,649,365 (GRCm39) |
A274S |
probably benign |
Het |
| Slco1a5 |
G |
T |
6: 142,187,876 (GRCm39) |
Q488K |
probably benign |
Het |
| Snai2 |
T |
C |
16: 14,524,635 (GRCm39) |
I47T |
probably benign |
Het |
| Snw1 |
T |
C |
12: 87,500,685 (GRCm39) |
D358G |
possibly damaging |
Het |
| Speg |
T |
C |
1: 75,404,841 (GRCm39) |
F2878L |
probably benign |
Het |
| Spg11 |
T |
C |
2: 121,902,771 (GRCm39) |
Y1386C |
probably damaging |
Het |
| Tgfb2 |
A |
C |
1: 186,357,670 (GRCm39) |
I435S |
probably damaging |
Het |
| Ttc9b |
G |
A |
7: 27,355,410 (GRCm39) |
D227N |
probably benign |
Het |
| Txndc2 |
T |
C |
17: 65,945,448 (GRCm39) |
E243G |
possibly damaging |
Het |
| Usp28 |
A |
G |
9: 48,938,119 (GRCm39) |
D563G |
probably damaging |
Het |
| Vmn1r77 |
T |
C |
7: 11,775,962 (GRCm39) |
V178A |
probably damaging |
Het |
| Zfp316 |
A |
G |
5: 143,240,181 (GRCm39) |
F613L |
probably benign |
Het |
| Zfp870 |
A |
T |
17: 33,101,980 (GRCm39) |
C450S |
possibly damaging |
Het |
|
| Other mutations in Rad52 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02376:Rad52
|
APN |
6 |
119,892,191 (GRCm39) |
splice site |
probably benign |
|
|
IGL02572:Rad52
|
APN |
6 |
119,892,188 (GRCm39) |
splice site |
probably benign |
|
|
IGL03292:Rad52
|
APN |
6 |
119,895,934 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R1693:Rad52
|
UTSW |
6 |
119,892,996 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2076:Rad52
|
UTSW |
6 |
119,888,040 (GRCm39) |
missense |
probably benign |
0.39 |
|
R2110:Rad52
|
UTSW |
6 |
119,897,855 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R4753:Rad52
|
UTSW |
6 |
119,889,946 (GRCm39) |
intron |
probably benign |
|
|
R5857:Rad52
|
UTSW |
6 |
119,887,968 (GRCm39) |
splice site |
probably null |
|
|
R5866:Rad52
|
UTSW |
6 |
119,889,907 (GRCm39) |
intron |
probably benign |
|
|
R6193:Rad52
|
UTSW |
6 |
119,897,143 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6369:Rad52
|
UTSW |
6 |
119,891,168 (GRCm39) |
missense |
unknown |
|
|
R8886:Rad52
|
UTSW |
6 |
119,890,041 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8888:Rad52
|
UTSW |
6 |
119,890,041 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8889:Rad52
|
UTSW |
6 |
119,890,041 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9321:Rad52
|
UTSW |
6 |
119,889,969 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-10-07 |
Incidental Mutation