Incidental Mutation 'IGL00493:Rdm1'
| ID |
4494 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Rdm1
|
| Ensembl Gene |
ENSMUSG00000010362 |
| Gene Name |
RAD52 motif 1 |
| Synonyms |
2410008M22Rik, Rad52b |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.170)
|
| Stock # |
IGL00493
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
101518021-101526926 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 101526580 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Glycine
at position 251
(C251G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000010506
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000010506]
|
| AlphaFold |
Q9CQK3 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000010506
AA Change: C251G
PolyPhen 2
Score 0.584 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000010506
Gene: ENSMUSG00000010362
AA Change: C251G
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
16 |
94 |
6.2e-6 |
SMART |
|
low complexity region
|
248 |
259 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000133727
|
| SMART Domains |
Protein: ENSMUSP00000118996
Gene: ENSMUSG00000010362
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Rad52_Rad22
|
14 |
118 |
1.9e-8 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139037
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152484
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155222
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein involved in the cellular response to cisplatin, a drug commonly used in chemotherapy. The protein encoded by this gene contains two motifs: a motif found in RAD52, a protein that functions in DNA double-strand breaks and homologous recombination, and an RNA recognition motif (RRM) that is not found in RAD52. The RAD52 motif region in RAD52 is important for protein function and may be involved in DNA binding or oligomerization. Alternatively spliced transcript variants encoding different isoforms have been reported. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adarb2 |
A |
G |
13: 8,751,761 (GRCm39) |
T509A |
probably benign |
Het |
| Arhgap23 |
T |
C |
11: 97,337,379 (GRCm39) |
|
probably null |
Het |
| Astn1 |
A |
T |
1: 158,427,889 (GRCm39) |
I687F |
possibly damaging |
Het |
| Atg4d |
T |
C |
9: 21,178,217 (GRCm39) |
F112L |
probably damaging |
Het |
| Bltp3b |
A |
C |
10: 89,615,846 (GRCm39) |
D163A |
probably damaging |
Het |
| Cd200 |
T |
A |
16: 45,217,409 (GRCm39) |
D94V |
probably damaging |
Het |
| Cfap46 |
T |
C |
7: 139,194,359 (GRCm39) |
K2285R |
probably benign |
Het |
| Clhc1 |
T |
A |
11: 29,521,745 (GRCm39) |
I426N |
probably damaging |
Het |
| Cnnm2 |
T |
A |
19: 46,751,659 (GRCm39) |
V483E |
probably damaging |
Het |
| Dennd2b |
G |
A |
7: 109,126,915 (GRCm39) |
A932V |
possibly damaging |
Het |
| Dlc1 |
A |
T |
8: 37,037,436 (GRCm39) |
|
probably benign |
Het |
| Fpgs |
T |
C |
2: 32,578,009 (GRCm39) |
I138V |
possibly damaging |
Het |
| Gpr152 |
T |
C |
19: 4,193,506 (GRCm39) |
V349A |
probably benign |
Het |
| Hk1 |
C |
A |
10: 62,122,127 (GRCm39) |
E523* |
probably null |
Het |
| Ift70a1 |
C |
A |
2: 75,812,085 (GRCm39) |
|
probably benign |
Het |
| Krt6a |
T |
G |
15: 101,601,229 (GRCm39) |
K241N |
probably damaging |
Het |
| Mcm3ap |
A |
G |
10: 76,307,011 (GRCm39) |
S375G |
probably benign |
Het |
| Meikin |
C |
T |
11: 54,289,320 (GRCm39) |
P231L |
probably damaging |
Het |
| Micall1 |
G |
A |
15: 78,999,221 (GRCm39) |
|
probably benign |
Het |
| Mvk |
G |
A |
5: 114,583,502 (GRCm39) |
V14I |
probably benign |
Het |
| Myo6 |
C |
T |
9: 80,199,754 (GRCm39) |
S1021L |
probably damaging |
Het |
| N4bp2l2 |
G |
A |
5: 150,585,401 (GRCm39) |
T193M |
probably benign |
Het |
| Naip5 |
G |
T |
13: 100,367,279 (GRCm39) |
D272E |
probably damaging |
Het |
| Nptn |
T |
A |
9: 58,550,922 (GRCm39) |
N316K |
probably damaging |
Het |
| Pde6c |
T |
C |
19: 38,151,324 (GRCm39) |
|
probably benign |
Het |
| Prg4 |
T |
A |
1: 150,327,671 (GRCm39) |
I850L |
probably damaging |
Het |
| Relch |
A |
G |
1: 105,624,324 (GRCm39) |
|
probably benign |
Het |
| Rps6kl1 |
G |
A |
12: 85,186,157 (GRCm39) |
P291L |
probably benign |
Het |
| Sel1l |
A |
G |
12: 91,781,387 (GRCm39) |
|
probably benign |
Het |
| Serpinb1b |
T |
C |
13: 33,277,850 (GRCm39) |
F361S |
probably damaging |
Het |
| Sirpb1a |
G |
A |
3: 15,475,788 (GRCm39) |
|
probably benign |
Het |
| Smpd1 |
T |
G |
7: 105,205,848 (GRCm39) |
V405G |
probably damaging |
Het |
| Spmip11 |
T |
C |
15: 98,486,425 (GRCm39) |
|
probably benign |
Het |
| Tead3 |
T |
C |
17: 28,551,780 (GRCm39) |
T438A |
possibly damaging |
Het |
| Treh |
A |
T |
9: 44,595,197 (GRCm39) |
D89V |
probably damaging |
Het |
| Trim10 |
A |
T |
17: 37,188,140 (GRCm39) |
H452L |
probably benign |
Het |
| Ugt2b1 |
A |
G |
5: 87,073,817 (GRCm39) |
C181R |
probably benign |
Het |
| Xdh |
A |
T |
17: 74,230,101 (GRCm39) |
F277I |
possibly damaging |
Het |
| Zswim4 |
T |
G |
8: 84,938,769 (GRCm39) |
T1038P |
probably damaging |
Het |
|
| Other mutations in Rdm1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02153:Rdm1
|
APN |
11 |
101,519,280 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02589:Rdm1
|
APN |
11 |
101,518,831 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R0532:Rdm1
|
UTSW |
11 |
101,526,661 (GRCm39) |
missense |
probably benign |
0.11 |
|
R1111:Rdm1
|
UTSW |
11 |
101,524,721 (GRCm39) |
missense |
probably benign |
0.19 |
|
R1532:Rdm1
|
UTSW |
11 |
101,524,643 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1618:Rdm1
|
UTSW |
11 |
101,519,217 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R1696:Rdm1
|
UTSW |
11 |
101,521,694 (GRCm39) |
missense |
probably benign |
0.43 |
|
R2205:Rdm1
|
UTSW |
11 |
101,525,629 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2921:Rdm1
|
UTSW |
11 |
101,521,716 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R2922:Rdm1
|
UTSW |
11 |
101,521,716 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R2923:Rdm1
|
UTSW |
11 |
101,521,716 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R4327:Rdm1
|
UTSW |
11 |
101,521,734 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4329:Rdm1
|
UTSW |
11 |
101,521,734 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6364:Rdm1
|
UTSW |
11 |
101,521,068 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7109:Rdm1
|
UTSW |
11 |
101,524,654 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8063:Rdm1
|
UTSW |
11 |
101,521,694 (GRCm39) |
missense |
probably benign |
0.43 |
|
R8485:Rdm1
|
UTSW |
11 |
101,518,816 (GRCm39) |
missense |
probably benign |
0.28 |
|
R9209:Rdm1
|
UTSW |
11 |
101,518,857 (GRCm39) |
missense |
probably benign |
|
|
X0010:Rdm1
|
UTSW |
11 |
101,518,796 (GRCm39) |
start codon destroyed |
probably null |
0.99 |
|
| Posted On |
2012-04-20 |
Incidental Mutation