Incidental Mutation 'R0532:Rdm1'
ID 49270
Institutional Source Beutler Lab
Gene Symbol Rdm1
Ensembl Gene ENSMUSG00000010362
Gene Name RAD52 motif 1
Synonyms 2410008M22Rik, Rad52b
MMRRC Submission 038724-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.170) question?
Stock # R0532 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 101518021-101526926 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 101526661 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 278 (C278S)
Ref Sequence ENSEMBL: ENSMUSP00000010506 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000010506]
AlphaFold Q9CQK3
Predicted Effect probably benign
Transcript: ENSMUST00000010506
AA Change: C278S

PolyPhen 2 Score 0.108 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000010506
Gene: ENSMUSG00000010362
AA Change: C278S

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.2%
Validation Efficiency 100% (90/90)
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: 91 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921524L21Rik A T 18: 6,638,618 (GRCm39) E339V possibly damaging Het
9230009I02Rik A T 11: 50,982,405 (GRCm39) noncoding transcript Het
9230112D13Rik A T 14: 34,234,054 (GRCm39) I79K unknown Het
Adam25 C T 8: 41,208,987 (GRCm39) T751I probably benign Het
Adgrv1 C A 13: 81,727,015 (GRCm39) V446L probably damaging Het
Afap1 C A 5: 36,125,944 (GRCm39) A313D possibly damaging Het
Akap6 A G 12: 52,934,766 (GRCm39) T753A probably benign Het
Aldh16a1 G T 7: 44,792,262 (GRCm39) T730N probably damaging Het
Amfr A T 8: 94,725,736 (GRCm39) M215K probably damaging Het
Apob A G 12: 8,066,188 (GRCm39) R4386G possibly damaging Het
Arhgap45 A T 10: 79,857,917 (GRCm39) M217L possibly damaging Het
Baiap2l2 C T 15: 79,168,276 (GRCm39) E49K possibly damaging Het
Baz1a C T 12: 54,981,605 (GRCm39) E350K possibly damaging Het
Bbx A T 16: 50,086,647 (GRCm39) V83D probably damaging Het
Btaf1 T C 19: 36,928,586 (GRCm39) probably benign Het
Cacna2d1 G A 5: 16,567,271 (GRCm39) E942K probably benign Het
Cad T C 5: 31,219,531 (GRCm39) probably benign Het
Ccdc96 A G 5: 36,643,710 (GRCm39) K572R probably benign Het
Cdc5l G A 17: 45,726,610 (GRCm39) R321W probably damaging Het
Cep164 G A 9: 45,721,124 (GRCm39) R93* probably null Het
Cir1 A G 2: 73,140,799 (GRCm39) probably null Het
Crocc A G 4: 140,757,558 (GRCm39) S912P possibly damaging Het
Cwf19l2 T C 9: 3,431,057 (GRCm39) L463P probably benign Het
Cyp3a59 C T 5: 146,033,463 (GRCm39) Q200* probably null Het
Cyp4b1 G T 4: 115,484,073 (GRCm39) P303T probably damaging Het
Dcbld1 C A 10: 52,193,173 (GRCm39) T306K probably benign Het
Dgat2 A G 7: 98,818,988 (GRCm39) V56A possibly damaging Het
Dnajc16 A C 4: 141,516,320 (GRCm39) L16R probably damaging Het
Dnmt1 A C 9: 20,829,852 (GRCm39) probably benign Het
Dus3l A G 17: 57,076,308 (GRCm39) I528V probably damaging Het
Egflam T C 15: 7,263,718 (GRCm39) D744G probably benign Het
Epb41 A C 4: 131,706,106 (GRCm39) probably benign Het
Eri2 C T 7: 119,385,206 (GRCm39) V432I probably benign Het
Esyt2 A G 12: 116,320,818 (GRCm39) probably benign Het
Extl3 A T 14: 65,315,122 (GRCm39) M20K probably benign Het
Fam32a A G 8: 72,976,063 (GRCm39) Y103C probably damaging Het
Fat4 T C 3: 39,035,870 (GRCm39) V3174A probably benign Het
Fbxo40 T A 16: 36,789,984 (GRCm39) E375D possibly damaging Het
Frrs1 A G 3: 116,676,813 (GRCm39) T182A probably benign Het
Fry A G 5: 150,357,172 (GRCm39) probably benign Het
Fry T C 5: 150,402,226 (GRCm39) probably benign Het
Fsip2 A G 2: 82,808,129 (GRCm39) I1483V probably benign Het
Glra3 T A 8: 56,578,111 (GRCm39) D389E probably benign Het
Gpr3 A T 4: 132,937,796 (GRCm39) I292N probably damaging Het
Grina T C 15: 76,133,045 (GRCm39) M230T probably damaging Het
Igkv11-125 G A 6: 67,890,603 (GRCm39) W16* probably null Het
Il18r1 T C 1: 40,514,061 (GRCm39) V89A probably damaging Het
Ino80 T C 2: 119,212,464 (GRCm39) E1286G possibly damaging Het
Iqch G A 9: 63,415,514 (GRCm39) probably benign Het
Itpr2 G T 6: 146,013,898 (GRCm39) Q2666K probably damaging Het
Kcnh3 A G 15: 99,130,844 (GRCm39) D487G probably damaging Het
Kdm1a A G 4: 136,288,377 (GRCm39) L402P probably damaging Het
Klhl10 T G 11: 100,337,937 (GRCm39) probably benign Het
Krt39 T C 11: 99,405,617 (GRCm39) T428A possibly damaging Het
Mapk3 G A 7: 126,362,558 (GRCm39) probably benign Het
Med13l T A 5: 118,897,188 (GRCm39) S2089T possibly damaging Het
Mex3c G A 18: 73,723,124 (GRCm39) D406N possibly damaging Het
Mki67 G A 7: 135,299,893 (GRCm39) R1714* probably null Het
Mmp9 C A 2: 164,791,740 (GRCm39) S211* probably null Het
Nat8f2 G T 6: 85,844,784 (GRCm39) Q193K probably benign Het
Omt2a C A 9: 78,220,187 (GRCm39) A71S possibly damaging Het
Or10ak11 T G 4: 118,686,897 (GRCm39) T247P probably damaging Het
Or5ac22 T C 16: 59,134,964 (GRCm39) K269E probably benign Het
Pdgfra G A 5: 75,331,434 (GRCm39) V315I probably benign Het
Pdgfrb A G 18: 61,216,337 (GRCm39) D1065G probably damaging Het
Pfas A T 11: 68,893,455 (GRCm39) probably benign Het
Pramel5 T C 4: 143,999,310 (GRCm39) E259G probably benign Het
Prpf6 A G 2: 181,264,004 (GRCm39) Y222C possibly damaging Het
Rbck1 C A 2: 152,166,250 (GRCm39) Q229H probably damaging Het
Sall1 T C 8: 89,759,819 (GRCm39) D95G probably benign Het
Scn1a T A 2: 66,148,167 (GRCm39) D1126V probably damaging Het
Scn4a C T 11: 106,221,226 (GRCm39) G811D probably benign Het
Sh2b1 A G 7: 126,071,444 (GRCm39) I247T probably benign Het
Shprh C A 10: 11,038,556 (GRCm39) T437K possibly damaging Het
Slc13a4 A T 6: 35,264,339 (GRCm39) probably null Het
Slc16a1 C A 3: 104,560,734 (GRCm39) Y346* probably null Het
Slc25a38 G T 9: 119,949,772 (GRCm39) A163S probably damaging Het
Slc6a12 G A 6: 121,333,877 (GRCm39) V238I probably damaging Het
Slc8b1 C A 5: 120,657,736 (GRCm39) D66E probably damaging Het
Snapin A G 3: 90,396,893 (GRCm39) L106P probably damaging Het
Tas2r122 G A 6: 132,688,791 (GRCm39) S34F possibly damaging Het
Tiam2 A G 17: 3,471,921 (GRCm39) K521R probably damaging Het
Tmem81 C G 1: 132,435,567 (GRCm39) I124M probably damaging Het
Ttc3 T C 16: 94,188,189 (GRCm39) probably benign Het
Uba1y T C Y: 820,911 (GRCm39) F31L probably benign Het
Ucp3 A G 7: 100,131,186 (GRCm39) probably benign Het
Vcan T C 13: 89,851,891 (GRCm39) E1023G probably damaging Het
Vmn2r45 A G 7: 8,474,820 (GRCm39) I736T probably damaging Het
Vps36 T C 8: 22,708,261 (GRCm39) F342L probably benign Het
Zc3hc1 A G 6: 30,374,929 (GRCm39) probably benign Het
Zmym4 G A 4: 126,792,194 (GRCm39) Q596* probably null Het
Other mutations in Rdm1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00493:Rdm1 APN 11 101,526,580 (GRCm39) missense possibly damaging 0.58
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
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
Predicted Primers PCR Primer
(F):5'- AGCTTCTCTGTGCCAGTGTGTACC -3'
(R):5'- GTCTTTATTAGGATGGGACGCCTGC -3'

Sequencing Primer
(F):5'- TGCCAGTGTGTACCAGAATC -3'
(R):5'- GCATGGGGAACCTTTTTCCAC -3'
Posted On 2013-06-12