Incidental Mutation 'R4329:Rdm1'
ID 324536
Institutional Source Beutler Lab
Gene Symbol Rdm1
Ensembl Gene ENSMUSG00000010362
Gene Name RAD52 motif 1
Synonyms 2410008M22Rik, Rad52b
MMRRC Submission 041663-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.207) question?
Stock # R4329 (G1)
Quality Score 136
Status Validated
Chromosome 11
Chromosomal Location 101518021-101526926 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 101521734 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 92 (V92E)
Gene Model predicted gene model for transcript(s): [ENSMUST00000010506]
AlphaFold Q9CQK3
Predicted Effect probably damaging
Transcript: ENSMUST00000010506
AA Change: V163E

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000010506
Gene: ENSMUSG00000010362
AA Change: V163E

DomainStartEndE-ValueType
RRM 16 94 6.2e-6 SMART
low complexity region 248 259 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000083833
Predicted Effect probably damaging
Transcript: ENSMUST00000133727
AA Change: V92E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000118996
Gene: ENSMUSG00000010362
AA Change: V92E

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 0.1438 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency 96% (68/71)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2900026A02Rik C A 5: 113,243,455 (GRCm39) probably null Het
Adamts15 T C 9: 30,815,814 (GRCm39) S681G probably benign Het
Ampd2 C A 3: 107,985,103 (GRCm39) probably benign Het
Ang2 A T 14: 51,433,325 (GRCm39) I19N possibly damaging Het
Brd10 G T 19: 29,720,961 (GRCm39) T688K probably benign Het
Cacna1s A C 1: 136,046,771 (GRCm39) D1819A probably benign Het
Cand2 C A 6: 115,776,949 (GRCm39) H1112Q possibly damaging Het
Catsperd T A 17: 56,961,517 (GRCm39) I413K possibly damaging Het
Ccdc142 T A 6: 83,083,997 (GRCm39) probably benign Het
Cd55 A T 1: 130,380,220 (GRCm39) C253S probably damaging Het
Celsr3 C T 9: 108,723,248 (GRCm39) R2847C probably benign Het
Cep290 C T 10: 100,373,530 (GRCm39) S1270L probably damaging Het
Chka T C 19: 3,925,803 (GRCm39) probably benign Het
Cntnap5b T A 1: 99,999,888 (GRCm39) D215E probably damaging Het
Col13a1 T C 10: 61,699,758 (GRCm39) T476A unknown Het
Cspg4 T C 9: 56,799,749 (GRCm39) F1539L probably damaging Het
Cwf19l2 A T 9: 3,458,878 (GRCm39) I776F probably damaging Het
Dchs1 A T 7: 105,402,966 (GRCm39) I3192N probably damaging Het
Dnah7c T A 1: 46,688,441 (GRCm39) D1870E probably benign Het
Drc1 A T 5: 30,513,002 (GRCm39) I359L probably benign Het
Esp1 A G 17: 41,039,768 (GRCm39) M18V probably benign Het
Exoc1 T A 5: 76,715,822 (GRCm39) F789L probably damaging Het
Fbxw22 T A 9: 109,213,111 (GRCm39) T279S probably damaging Het
Frem1 G A 4: 82,904,774 (GRCm39) A880V probably benign Het
Gm29514 A G 1: 146,296,429 (GRCm39) noncoding transcript Het
Grm7 T C 6: 110,891,325 (GRCm39) L186P probably damaging Het
Ipo8 A T 6: 148,701,662 (GRCm39) probably benign Het
Klk4 A G 7: 43,533,830 (GRCm39) D202G probably damaging Het
Marchf6 C T 15: 31,498,887 (GRCm39) E137K probably benign Het
Mpp3 T C 11: 101,914,337 (GRCm39) probably benign Het
Mroh2b T A 15: 4,960,861 (GRCm39) Y808N probably damaging Het
Myom1 C T 17: 71,343,348 (GRCm39) L182F probably damaging Het
Nova1 A T 12: 46,767,615 (GRCm39) I102N unknown Het
Or7g34 T A 9: 19,478,318 (GRCm39) M121L possibly damaging Het
Pak3 T C X: 142,516,205 (GRCm39) probably null Het
Palm G A 10: 79,643,520 (GRCm39) G83S probably benign Het
Patl2 C T 2: 121,958,018 (GRCm39) S80N probably benign Het
Pcdhb9 A T 18: 37,534,875 (GRCm39) S290C probably benign Het
Pcdhb9 G T 18: 37,534,876 (GRCm39) S290I probably benign Het
Pdgfrb A T 18: 61,204,792 (GRCm39) I551F possibly damaging Het
Pkmyt1 T A 17: 23,951,709 (GRCm39) Y88N probably damaging Het
Pnkp T C 7: 44,508,018 (GRCm39) S114P probably benign Het
Sema4d T C 13: 51,857,340 (GRCm39) R631G probably benign Het
Sin3a T C 9: 57,002,642 (GRCm39) L178P probably damaging Het
Skint9 A C 4: 112,249,062 (GRCm39) L122R probably damaging Het
Slc16a13 T C 11: 70,108,723 (GRCm39) N369S probably benign Het
Strada A G 11: 106,077,999 (GRCm39) probably benign Het
Tnxb C A 17: 34,912,838 (GRCm39) S1784Y probably damaging Het
Trpc2 T C 7: 101,736,727 (GRCm39) V318A probably damaging Het
Ttc3 G A 16: 94,267,820 (GRCm39) R1589H probably damaging Het
Ttyh1 A T 7: 4,133,580 (GRCm39) D295V probably damaging Het
Unc5b A G 10: 60,618,969 (GRCm39) Y58H probably damaging Het
Xylt1 G A 7: 117,255,684 (GRCm39) G752D probably damaging Het
Yipf7 A T 5: 69,678,465 (GRCm39) L55Q probably damaging Het
Zfp827 G A 8: 79,916,463 (GRCm39) probably benign Het
Zfta A G 19: 7,398,591 (GRCm39) probably benign 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
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
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'- CTCCATTGAGTTCTCCAGCAAG -3'
(R):5'- GGCTAGTAGCTGACAACAAGTG -3'

Sequencing Primer
(F):5'- CTAAGTAATGGAGAGCTTGCCTAGTC -3'
(R):5'- CTAGTAGCTGACAACAAGTGGAGAG -3'
Posted On 2015-06-24