Incidental Mutation 'IGL03105:Rad54b'
ID 418918
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rad54b
Ensembl Gene ENSMUSG00000078773
Gene Name RAD54 homolog B (S. cerevisiae)
Synonyms E130016E03Rik, E130016E03Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03105
Quality Score
Status
Chromosome 4
Chromosomal Location 11558930-11615806 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 11615569 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 859 (N859S)
Ref Sequence ENSEMBL: ENSMUSP00000066977 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070755]
AlphaFold Q6PFE3
Predicted Effect probably benign
Transcript: ENSMUST00000070755
AA Change: N859S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000066977
Gene: ENSMUSG00000078773
AA Change: N859S

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
Coding Region Coverage
Validation Efficiency
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adss1 A G 12: 112,599,155 (GRCm39) I129V probably benign Het
Ankrd35 A G 3: 96,591,373 (GRCm39) H553R probably benign Het
Brca2 A G 5: 150,483,950 (GRCm39) K2923R probably benign Het
Cadm3 A T 1: 173,172,583 (GRCm39) L174M probably damaging Het
Car10 T C 11: 92,991,101 (GRCm39) V17A probably benign Het
Cep290 A G 10: 100,387,686 (GRCm39) K1956E possibly damaging Het
Cfhr1 T A 1: 139,475,565 (GRCm39) probably benign Het
Crim1 A T 17: 78,623,179 (GRCm39) probably benign Het
Dedd G A 1: 171,168,486 (GRCm39) R224H probably damaging Het
F7 A T 8: 13,084,001 (GRCm39) I229L probably null Het
Igkv17-121 A T 6: 68,014,284 (GRCm39) Q112L probably damaging Het
Kcnk13 G A 12: 100,027,369 (GRCm39) R148Q probably damaging Het
Klk13 T C 7: 43,370,904 (GRCm39) L51P probably benign Het
Ldb2 A G 5: 44,956,715 (GRCm39) S41P possibly damaging Het
Magi2 A G 5: 20,748,616 (GRCm39) D767G probably damaging Het
Mical3 T C 6: 121,019,199 (GRCm39) T8A probably benign Het
Mkln1 G T 6: 31,435,994 (GRCm39) E318* probably null Het
Mx1 C T 16: 97,257,554 (GRCm39) V68I possibly damaging Het
Mylk2 T C 2: 152,759,279 (GRCm39) V350A possibly damaging Het
Nav2 T A 7: 49,114,627 (GRCm39) S870R probably damaging Het
Onecut2 A T 18: 64,474,579 (GRCm39) K358* probably null Het
Or51b4 A G 7: 103,531,339 (GRCm39) I37T possibly damaging Het
Or52n2c A T 7: 104,574,971 (GRCm39) probably benign Het
Or7a40 T C 16: 16,491,390 (GRCm39) T152A probably benign Het
Or7g16 T C 9: 18,726,685 (GRCm39) R302G probably benign Het
Orai3 A G 7: 127,372,725 (GRCm39) probably benign Het
Saxo4 A G 19: 10,454,384 (GRCm39) probably benign Het
Sec23b C T 2: 144,423,940 (GRCm39) R530W probably damaging Het
Slc25a35 T C 11: 68,859,496 (GRCm39) F3S probably damaging Het
Slc7a11 A T 3: 50,326,788 (GRCm39) I491K possibly damaging Het
Srrt A T 5: 137,298,106 (GRCm39) N317K possibly damaging Het
Sspo T C 6: 48,450,592 (GRCm39) probably benign Het
Taf2 A C 15: 54,909,195 (GRCm39) D683E probably benign Het
Tasor T A 14: 27,164,509 (GRCm39) C272S probably damaging Het
Tcerg1l G T 7: 137,850,173 (GRCm39) probably benign Het
Tg G T 15: 66,586,955 (GRCm39) V1578F probably benign Het
Tmem43 G A 6: 91,457,682 (GRCm39) G188D probably damaging Het
Tnfrsf8 T C 4: 145,025,354 (GRCm39) Y73C probably damaging Het
Ttc21a A G 9: 119,771,642 (GRCm39) Y147C probably benign Het
Ttn T C 2: 76,608,394 (GRCm39) D17843G probably damaging Het
Ttn T A 2: 76,642,521 (GRCm39) D11592V probably damaging Het
Tubgcp5 T A 7: 55,475,329 (GRCm39) I842N probably damaging Het
Unc80 A T 1: 66,511,258 (GRCm39) T89S probably damaging Het
Usp28 T C 9: 48,950,355 (GRCm39) M928T probably damaging Het
Usp43 A G 11: 67,770,802 (GRCm39) S611P possibly damaging Het
Utp20 A G 10: 88,626,958 (GRCm39) V1000A probably benign Het
Zfp263 T C 16: 3,566,824 (GRCm39) C380R probably damaging Het
Zfyve1 A C 12: 83,605,413 (GRCm39) C14G 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
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
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 2016-08-02