Incidental Mutation 'R0076:Rad54b'
ID 17191
Institutional Source Beutler Lab
Gene Symbol Rad54b
Ensembl Gene ENSMUSG00000078773
Gene Name RAD54 homolog B (S. cerevisiae)
Synonyms E130016E03Rik, E130016E03Rik
MMRRC Submission 038363-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0076 (G1)
Quality Score
Status Validated
Chromosome 4
Chromosomal Location 11558930-11615806 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) G to A at 11609480 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000070755]
AlphaFold Q6PFE3
Predicted Effect probably benign
Transcript: ENSMUST00000070755
SMART Domains Protein: ENSMUSP00000066977
Gene: ENSMUSG00000078773

DomainStartEndE-ValueType
low complexity region 113 121 N/A INTRINSIC
low complexity region 164 178 N/A INTRINSIC
DEXDc 270 470 4.36e-36 SMART
HELICc 652 736 6.14e-22 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144499
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148576
Predicted Effect probably benign
Transcript: ENSMUST00000178725
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 89.9%
  • 3x: 87.5%
  • 10x: 81.6%
  • 20x: 72.8%
Validation Efficiency 92% (83/90)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the DEAD-like helicase superfamily. It shares similarity with Saccharomyces cerevisiae RAD54 and RDH54, both of which are involved in homologous recombination and repair of DNA. This protein binds to double-stranded DNA, and displays ATPase activity in the presence of DNA. This gene is highly expressed in testis and spleen, which suggests active roles in meiotic and mitotic recombination. Homozygous mutations of this gene were observed in primary lymphoma and colon cancer. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene have an increased sensitivity to ionizing radiation and other agents of DNA damage but outherwise have a normal phenotype. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca15 T G 7: 119,972,908 (GRCm39) probably benign Het
Acp3 A G 9: 104,201,417 (GRCm39) probably benign Het
Ada T A 2: 163,569,523 (GRCm39) probably benign Het
Ankrd17 T A 5: 90,392,265 (GRCm39) K1693* probably null Het
Arhgef38 T A 3: 132,866,507 (GRCm39) H210L possibly damaging Het
Car10 G A 11: 93,381,423 (GRCm39) E129K possibly damaging Het
Cask A G X: 13,544,513 (GRCm39) probably benign Het
Cd19 T C 7: 126,010,034 (GRCm39) D406G probably damaging Het
Cd93 T C 2: 148,284,056 (GRCm39) D430G probably benign Het
Cds1 T C 5: 101,965,706 (GRCm39) probably benign Het
Cerkl A T 2: 79,173,633 (GRCm39) S259T possibly damaging Het
Cfap91 G A 16: 38,123,046 (GRCm39) Q661* probably null Het
Cog8 T C 8: 107,780,765 (GRCm39) I164M possibly damaging Het
Col4a1 G A 8: 11,268,713 (GRCm39) P1009L probably damaging Het
Col9a1 G A 1: 24,276,578 (GRCm39) probably null Het
Dcc G A 18: 71,454,117 (GRCm39) Q1241* probably null Het
Dock3 A C 9: 106,788,685 (GRCm39) probably benign Het
Dus1l A T 11: 120,683,634 (GRCm39) probably benign Het
Dvl2 G A 11: 69,898,926 (GRCm39) E438K probably damaging Het
Eif3g A G 9: 20,809,049 (GRCm39) F85S probably damaging Het
Fam234b A G 6: 135,204,224 (GRCm39) M456V probably benign Het
Fbxo47 G A 11: 97,748,481 (GRCm39) probably benign Het
Fyb2 A G 4: 104,802,661 (GRCm39) T188A possibly damaging Het
Gm11437 T C 11: 84,039,462 (GRCm39) T288A possibly damaging Het
Gm5546 T A 3: 104,260,448 (GRCm39) noncoding transcript Het
Gmfb C A 14: 47,054,912 (GRCm39) A11S probably benign Het
Gpat4 G A 8: 23,680,721 (GRCm39) probably benign Het
Ifitm6 T A 7: 140,595,920 (GRCm39) R124S possibly damaging Het
Il17rd T A 14: 26,816,811 (GRCm39) L172Q probably damaging Het
Il4 A T 11: 53,504,741 (GRCm39) L13Q probably damaging Het
Kif2b A G 11: 91,466,735 (GRCm39) M516T probably damaging Het
Kmt2a A G 9: 44,741,356 (GRCm39) probably benign Het
Mark1-ps1 T A 17: 54,254,905 (GRCm39) noncoding transcript Het
Mndal G T 1: 173,702,013 (GRCm39) C96* probably null Het
Mroh1 T C 15: 76,335,340 (GRCm39) S1365P probably benign Het
Mrpl12 A G 11: 120,376,268 (GRCm39) probably benign Het
Mthfsd C A 8: 121,825,478 (GRCm39) V270F probably benign Het
Nbas T A 12: 13,374,337 (GRCm39) V555D probably damaging Het
Pcdhb16 T C 18: 37,611,412 (GRCm39) V124A probably damaging Het
Pla2g10 T A 16: 13,533,382 (GRCm39) Y131F possibly damaging Het
Plec T C 15: 76,075,614 (GRCm39) probably benign Het
Polr2b T A 5: 77,474,408 (GRCm39) V415E possibly damaging Het
Pou6f1 G A 15: 100,485,717 (GRCm39) Q106* probably null Het
Ptprd T C 4: 75,865,276 (GRCm39) probably benign Het
Rspo1 G A 4: 124,885,190 (GRCm39) R22Q probably benign Het
Scn7a A G 2: 66,544,381 (GRCm39) V370A probably benign Het
Sec1 A G 7: 45,328,315 (GRCm39) V244A probably damaging Het
Serac1 A G 17: 6,115,212 (GRCm39) probably benign Het
Slco2b1 A T 7: 99,334,708 (GRCm39) Y254* probably null Het
Steap3 G A 1: 120,155,460 (GRCm39) R500C probably damaging Het
Stk10 A G 11: 32,553,722 (GRCm39) T580A probably benign Het
Tpo C T 12: 30,154,022 (GRCm39) G228R probably damaging Het
Tpx2 T C 2: 152,735,603 (GRCm39) F744L probably damaging Het
Ube3b G T 5: 114,546,278 (GRCm39) probably null Het
Vmn2r84 A G 10: 130,230,062 (GRCm39) S17P probably damaging Het
Vps13d A T 4: 144,891,264 (GRCm39) probably benign Het
Zfp532 T A 18: 65,818,698 (GRCm39) S851R probably benign Het
Zfp623 G A 15: 75,819,058 (GRCm39) E5K probably benign Het
Other mutations in Rad54b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00770:Rad54b APN 4 11,593,765 (GRCm39) missense probably benign
IGL00774:Rad54b APN 4 11,593,765 (GRCm39) missense probably benign
IGL00956:Rad54b APN 4 11,597,833 (GRCm39) missense probably damaging 0.98
IGL00961:Rad54b APN 4 11,599,699 (GRCm39) missense probably damaging 1.00
IGL01064:Rad54b APN 4 11,604,866 (GRCm39) missense probably damaging 1.00
IGL02150:Rad54b APN 4 11,610,502 (GRCm39) missense probably damaging 1.00
IGL02326:Rad54b APN 4 11,612,713 (GRCm39) missense probably damaging 1.00
IGL03105:Rad54b APN 4 11,615,569 (GRCm39) missense probably benign 0.00
IGL03143:Rad54b APN 4 11,599,755 (GRCm39) missense probably damaging 1.00
IGL03288:Rad54b APN 4 11,569,833 (GRCm39) missense possibly damaging 0.83
kerplunk UTSW 4 11,612,655 (GRCm39) missense probably damaging 1.00
Schnipfel UTSW 4 11,583,689 (GRCm39) unclassified probably benign
P0033:Rad54b UTSW 4 11,609,285 (GRCm39) unclassified probably benign
R0094:Rad54b UTSW 4 11,599,681 (GRCm39) missense possibly damaging 0.92
R0391:Rad54b UTSW 4 11,601,702 (GRCm39) missense probably damaging 0.98
R0441:Rad54b UTSW 4 11,563,394 (GRCm39) missense probably benign 0.08
R0442:Rad54b UTSW 4 11,610,362 (GRCm39) missense probably benign 0.02
R0442:Rad54b UTSW 4 11,609,480 (GRCm39) unclassified probably benign
R0449:Rad54b UTSW 4 11,606,131 (GRCm39) missense probably benign 0.43
R0519:Rad54b UTSW 4 11,599,809 (GRCm39) missense probably damaging 1.00
R0843:Rad54b UTSW 4 11,609,471 (GRCm39) critical splice donor site probably null
R1118:Rad54b UTSW 4 11,563,352 (GRCm39) missense probably damaging 1.00
R1439:Rad54b UTSW 4 11,606,152 (GRCm39) missense possibly damaging 0.90
R1763:Rad54b UTSW 4 11,604,989 (GRCm39) missense possibly damaging 0.52
R1812:Rad54b UTSW 4 11,612,770 (GRCm39) missense probably damaging 1.00
R1854:Rad54b UTSW 4 11,601,669 (GRCm39) missense probably damaging 1.00
R1917:Rad54b UTSW 4 11,601,693 (GRCm39) missense probably damaging 1.00
R1918:Rad54b UTSW 4 11,601,693 (GRCm39) missense probably damaging 1.00
R1919:Rad54b UTSW 4 11,601,693 (GRCm39) missense probably damaging 1.00
R2057:Rad54b UTSW 4 11,606,088 (GRCm39) missense probably benign 0.08
R2386:Rad54b UTSW 4 11,597,874 (GRCm39) missense probably benign
R2437:Rad54b UTSW 4 11,606,272 (GRCm39) missense probably damaging 1.00
R4299:Rad54b UTSW 4 11,597,865 (GRCm39) missense probably damaging 1.00
R4391:Rad54b UTSW 4 11,615,570 (GRCm39) missense probably benign 0.00
R4672:Rad54b UTSW 4 11,609,449 (GRCm39) missense probably benign 0.05
R4673:Rad54b UTSW 4 11,609,449 (GRCm39) missense probably benign 0.05
R4826:Rad54b UTSW 4 11,599,753 (GRCm39) missense probably damaging 1.00
R4930:Rad54b UTSW 4 11,615,579 (GRCm39) missense probably damaging 0.99
R5796:Rad54b UTSW 4 11,615,446 (GRCm39) missense probably benign 0.01
R5901:Rad54b UTSW 4 11,595,919 (GRCm39) missense possibly damaging 0.84
R6185:Rad54b UTSW 4 11,593,804 (GRCm39) missense possibly damaging 0.51
R6355:Rad54b UTSW 4 11,604,989 (GRCm39) missense possibly damaging 0.52
R6576:Rad54b UTSW 4 11,601,577 (GRCm39) missense probably benign
R6684:Rad54b UTSW 4 11,583,689 (GRCm39) unclassified probably benign
R6821:Rad54b UTSW 4 11,612,777 (GRCm39) missense probably damaging 1.00
R6947:Rad54b UTSW 4 11,569,859 (GRCm39) missense possibly damaging 0.83
R7177:Rad54b UTSW 4 11,599,755 (GRCm39) missense probably damaging 1.00
R7361:Rad54b UTSW 4 11,599,782 (GRCm39) missense probably damaging 1.00
R7483:Rad54b UTSW 4 11,610,372 (GRCm39) missense probably damaging 1.00
R7511:Rad54b UTSW 4 11,578,956 (GRCm39) splice site probably null
R7847:Rad54b UTSW 4 11,612,655 (GRCm39) missense probably damaging 1.00
R7908:Rad54b UTSW 4 11,595,868 (GRCm39) missense probably null 0.01
R8198:Rad54b UTSW 4 11,612,440 (GRCm39) critical splice donor site probably null
R9140:Rad54b UTSW 4 11,610,386 (GRCm39) missense probably damaging 1.00
R9213:Rad54b UTSW 4 11,609,321 (GRCm39) nonsense probably null
Posted On 2013-01-20