Incidental Mutation 'IGL02153:Rdm1'
ID282145
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rdm1
Ensembl Gene ENSMUSG00000010362
Gene NameRAD52 motif 1
SynonymsRad52b, 2410008M22Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.114) question?
Stock #IGL02153
Quality Score
Status
Chromosome11
Chromosomal Location101627195-101636100 bp(+) (GRCm38)
Type of Mutationcritical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to A at 101628454 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000010506 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000010506]
Predicted Effect probably null
Transcript: ENSMUST00000010506
SMART Domains Protein: ENSMUSP00000010506
Gene: ENSMUSG00000010362

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 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
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6820408C15Rik T C 2: 152,441,241 I275T probably benign Het
BC005561 A G 5: 104,521,083 E1157G probably benign Het
Chd9 A T 8: 90,956,494 K521* probably null Het
Csn3 A T 5: 87,930,097 N154I possibly damaging Het
Dock2 A G 11: 34,230,670 S1716P probably benign Het
Dock7 A T 4: 98,958,067 S18T probably benign Het
Esrra G A 19: 6,913,822 T190I probably benign Het
F13b T C 1: 139,516,377 I483T probably damaging Het
Foxb1 T A 9: 69,759,703 M182L probably benign Het
Fsip2 T C 2: 82,978,721 F1795L probably benign Het
Gkn2 G A 6: 87,373,408 probably null Het
Gm8439 G A 4: 120,609,590 A93T unknown Het
Ift22 T C 5: 136,911,696 S72P probably benign Het
Kcnmb2 A G 3: 32,178,844 K24E probably damaging Het
Kcnq3 C A 15: 66,025,191 V287L probably damaging Het
Lrriq1 T A 10: 103,170,479 M1262L probably benign Het
Mb21d2 A G 16: 28,929,488 I59T probably benign Het
Mogat2 A T 7: 99,223,554 M141K possibly damaging Het
Mtdh C T 15: 34,131,250 L409F possibly damaging Het
Muc5ac C T 7: 141,818,800 Q2724* probably null Het
Myo15 T G 11: 60,498,397 L2040R probably damaging Het
Nodal C T 10: 61,424,545 T325I probably damaging Het
Pappa A T 4: 65,297,437 T1194S probably damaging Het
Pcdhb13 A C 18: 37,443,685 D372A probably damaging Het
Phf14 T A 6: 11,934,016 N292K probably damaging Het
Pigr T A 1: 130,849,056 probably null Het
Plcb1 T C 2: 135,387,853 I1131T probably benign Het
Plch1 T A 3: 63,781,351 D132V probably damaging Het
Plxnb2 C A 15: 89,165,813 E502* probably null Het
Prox2 T C 12: 85,087,929 N526S probably damaging Het
Rxfp1 C T 3: 79,660,120 E308K probably benign Het
Sgca T C 11: 94,963,284 T120A probably damaging Het
Sh3tc1 G A 5: 35,703,352 R1054W probably damaging Het
Smarcal1 C T 1: 72,633,055 probably benign Het
Spata45 T A 1: 191,039,761 M60K probably benign Het
St8sia6 T C 2: 13,656,905 M372V probably damaging Het
Tas2r126 T G 6: 42,434,664 S44A probably benign Het
Tcea3 T A 4: 136,273,634 probably benign Het
Tln1 T C 4: 43,546,857 I840V possibly damaging Het
Ttn T C 2: 76,898,341 probably benign Het
Ubr4 T A 4: 139,460,160 Y3846* probably null Het
Usp47 G A 7: 112,104,049 D1171N probably benign Het
Vmn2r114 G A 17: 23,291,808 T566I probably benign Het
Wdr35 G A 12: 9,008,535 R575Q probably null Het
Xkr5 A T 8: 18,933,667 C454S probably benign Het
Other mutations in Rdm1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00493:Rdm1 APN 11 101635754 missense possibly damaging 0.58
IGL02589:Rdm1 APN 11 101628005 missense possibly damaging 0.80
R0532:Rdm1 UTSW 11 101635835 missense probably benign 0.11
R1111:Rdm1 UTSW 11 101633895 missense probably benign 0.19
R1532:Rdm1 UTSW 11 101633817 missense probably damaging 1.00
R1618:Rdm1 UTSW 11 101628391 missense possibly damaging 0.83
R1696:Rdm1 UTSW 11 101630868 missense probably benign 0.43
R2205:Rdm1 UTSW 11 101634803 missense probably damaging 1.00
R2921:Rdm1 UTSW 11 101630890 missense possibly damaging 0.90
R2922:Rdm1 UTSW 11 101630890 missense possibly damaging 0.90
R2923:Rdm1 UTSW 11 101630890 missense possibly damaging 0.90
R4327:Rdm1 UTSW 11 101630908 missense probably damaging 1.00
R4329:Rdm1 UTSW 11 101630908 missense probably damaging 1.00
R6364:Rdm1 UTSW 11 101630242 missense probably benign 0.01
R7109:Rdm1 UTSW 11 101633828 missense probably damaging 1.00
R8063:Rdm1 UTSW 11 101630868 missense probably benign 0.43
X0010:Rdm1 UTSW 11 101627970 start codon destroyed probably null 0.99
Posted On2015-04-16