Incidental Mutation 'R6684:Rad54b'
ID 527608
Institutional Source Beutler Lab
Gene Symbol Rad54b
Ensembl Gene ENSMUSG00000078773
Gene Name RAD54 homolog B (S. cerevisiae)
Synonyms E130016E03Rik, E130016E03Rik
MMRRC Submission 044803-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6684 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 11558930-11615806 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) T to C at 11583689 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000103942 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070755] [ENSMUST00000095145] [ENSMUST00000108306] [ENSMUST00000180239]
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 unknown
Transcript: ENSMUST00000095145
AA Change: M87T
Predicted Effect probably benign
Transcript: ENSMUST00000108306
Predicted Effect noncoding transcript
Transcript: ENSMUST00000179498
Predicted Effect noncoding transcript
Transcript: ENSMUST00000179731
Predicted Effect silent
Transcript: ENSMUST00000180239
SMART Domains Protein: ENSMUSP00000137082
Gene: ENSMUSG00000094595

DomainStartEndE-ValueType
Pfam:Myb_DNA-bind_5 6 85 2.2e-24 PFAM
coiled coil region 256 293 N/A INTRINSIC
Meta Mutation Damage Score 0.0610 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 94.1%
Validation Efficiency 94% (33/35)
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcf2 G A 5: 24,774,137 (GRCm39) R322W probably damaging Het
Capns1 C A 7: 29,893,324 (GRCm39) G63V probably damaging Het
Carmil1 G A 13: 24,206,525 (GRCm39) T5M unknown Het
Cr2 T A 1: 194,853,329 (GRCm39) K70* probably null Het
Dapk1 T A 13: 60,908,708 (GRCm39) I1107N probably damaging Het
Ehd4 A G 2: 119,984,815 (GRCm39) F48L probably damaging Het
Fam221a G T 6: 49,349,542 (GRCm39) E36* probably null Het
Fam81b G A 13: 76,350,157 (GRCm39) Q423* probably null Het
Galnt7 C T 8: 57,991,143 (GRCm39) V456I probably benign Het
Gm10801 C CGTA 2: 98,494,152 (GRCm39) probably null Het
Hrc A G 7: 44,985,956 (GRCm39) H369R possibly damaging Het
Impg2 T G 16: 56,080,292 (GRCm39) S590A probably benign Het
Lcn3 A T 2: 25,656,170 (GRCm39) H75L probably benign Het
Lims1 T A 10: 58,234,835 (GRCm39) probably null Het
Lkaaear1 TCTCCAGCTCCAGCTCCAGCTCCAGCTCCAGCTCCAGCTCCAG TCTCCAGCTCCAGCTCCAGCTCCAGCTCCAGCTCCAGCTCCAGCTCCAG 2: 181,339,354 (GRCm39) probably benign Het
Or5p79 A G 7: 108,221,141 (GRCm39) T41A probably damaging Het
Orai3 A G 7: 127,372,892 (GRCm39) N131S probably damaging Het
Pcdhga7 T C 18: 37,849,103 (GRCm39) L370P probably damaging Het
Phtf2 A G 5: 21,017,937 (GRCm39) probably benign Het
Plcg2 T C 8: 118,323,071 (GRCm39) Y709H probably damaging Het
Pmfbp1 T C 8: 110,262,462 (GRCm39) S719P probably benign Het
Polr3g A T 13: 81,847,650 (GRCm39) probably null Het
Ppp4r1 G A 17: 66,131,337 (GRCm39) A360T probably benign Het
Pramel6 T C 2: 87,339,748 (GRCm39) W171R probably damaging Het
Rasl10a G A 11: 5,008,396 (GRCm39) E31K possibly damaging Het
Ryr3 T C 2: 112,583,433 (GRCm39) R2813G probably damaging Het
Tmem71 A G 15: 66,413,539 (GRCm39) S178P possibly damaging Het
Trim58 A G 11: 58,542,446 (GRCm39) T469A probably benign Het
Vash1 A G 12: 86,735,683 (GRCm39) T190A probably damaging Het
Ythdc2 T C 18: 45,006,136 (GRCm39) S1210P possibly damaging Het
Zfp42 G A 8: 43,749,093 (GRCm39) T136M possibly damaging Het
Zfp595 T C 13: 67,468,341 (GRCm39) Y72C probably damaging 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
R0076:Rad54b UTSW 4 11,609,480 (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
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
Predicted Primers PCR Primer
(F):5'- CCCCACAGCTTTCTTTGGAG -3'
(R):5'- CCACAACATGCATTAACTCATGTTC -3'

Sequencing Primer
(F):5'- CTCAGAAATCCACTTGAGTGCTGG -3'
(R):5'- AACATGCATTAACTCATGTTCTTCTC -3'
Posted On 2018-07-23