Incidental Mutation 'R0449:Rad54b'
ID 39503
Institutional Source Beutler Lab
Gene Symbol Rad54b
Ensembl Gene ENSMUSG00000078773
Gene Name RAD54 homolog B (S. cerevisiae)
Synonyms E130016E03Rik, E130016E03Rik
MMRRC Submission 038649-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0449 (G1)
Quality Score 157
Status Not validated
Chromosome 4
Chromosomal Location 11558930-11615806 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 11606131 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 513 (I513N)
Ref Sequence ENSEMBL: ENSMUSP00000066977 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070755]
AlphaFold Q6PFE3
Predicted Effect probably benign
Transcript: ENSMUST00000070755
AA Change: I513N

PolyPhen 2 Score 0.430 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000066977
Gene: ENSMUSG00000078773
AA Change: I513N

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 probably benign
Transcript: ENSMUST00000178725
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.7%
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb4 A T 5: 8,989,885 (GRCm39) R813* probably null Het
Accsl T A 2: 93,696,419 (GRCm39) I60F probably benign Het
Adam29 C T 8: 56,325,716 (GRCm39) G246D probably benign Het
Ankrd13c A G 3: 157,697,351 (GRCm39) I319V probably benign Het
Bag6 T G 17: 35,360,442 (GRCm39) V327G probably damaging Het
Barhl1 C T 2: 28,805,304 (GRCm39) A130T probably benign Het
Bend4 T C 5: 67,555,583 (GRCm39) D541G probably damaging Het
Birc6 A C 17: 74,999,290 (GRCm39) T4673P probably damaging Het
Ccdc81 T C 7: 89,539,679 (GRCm39) R186G probably damaging Het
Cdyl2 A G 8: 117,309,931 (GRCm39) F342L probably damaging Het
Chd3 C A 11: 69,248,367 (GRCm39) V748L probably damaging Het
CN725425 G T 15: 91,123,147 (GRCm39) R72I possibly damaging Het
Col22a1 A G 15: 71,834,520 (GRCm39) probably null Het
Cops3 A G 11: 59,709,243 (GRCm39) probably null Het
Ctnnd1 G T 2: 84,433,606 (GRCm39) Q940K possibly damaging Het
Dtnb C T 12: 3,641,971 (GRCm39) Q45* probably null Het
Efr3a T A 15: 65,714,553 (GRCm39) I280K probably damaging Het
Eml6 A C 11: 29,843,213 (GRCm39) V167G probably benign Het
Fam83c T A 2: 155,672,215 (GRCm39) M407L probably benign Het
Fasn T C 11: 120,701,894 (GRCm39) T1862A probably benign Het
Fbxl6 A G 15: 76,420,155 (GRCm39) I486T probably damaging Het
Gpr182 A G 10: 127,586,565 (GRCm39) Y129H probably damaging Het
Gpr75 A G 11: 30,842,456 (GRCm39) S454G probably damaging Het
Hectd4 G A 5: 121,502,653 (GRCm39) probably null Het
Hsf4 A G 8: 106,002,222 (GRCm39) T411A probably benign Het
Hsh2d G A 8: 72,954,304 (GRCm39) D229N probably benign Het
Il4 A T 11: 53,509,432 (GRCm39) M1K probably null Het
Ints11 G T 4: 155,972,405 (GRCm39) R463L probably benign Het
Ints4 G A 7: 97,178,430 (GRCm39) E677K probably damaging Het
Klk1b11 G A 7: 43,647,216 (GRCm39) C50Y probably damaging Het
Krt14 C A 11: 100,098,221 (GRCm39) G21C unknown Het
Krt81 C A 15: 101,361,508 (GRCm39) R24L possibly damaging Het
L3mbtl2 C T 15: 81,552,942 (GRCm39) A125V probably damaging Het
Lama3 A G 18: 12,633,569 (GRCm39) probably null Het
Lrrk2 T C 15: 91,634,478 (GRCm39) L1414P probably damaging Het
Matn2 T C 15: 34,428,687 (GRCm39) S684P probably damaging Het
Mga T A 2: 119,771,862 (GRCm39) V1574D probably damaging Het
Mia2 T C 12: 59,219,380 (GRCm39) probably null Het
Mrpl21 T A 19: 3,342,459 (GRCm39) probably benign Het
Msh5 T A 17: 35,260,458 (GRCm39) Q266L probably benign Het
Mybpc1 C A 10: 88,376,822 (GRCm39) C758F probably damaging Het
Myo15a G A 11: 60,400,422 (GRCm39) A2932T possibly damaging Het
Nbas T A 12: 13,569,109 (GRCm39) I2021K probably benign Het
Neurl4 T C 11: 69,796,393 (GRCm39) S424P probably damaging Het
Or10j5 T A 1: 172,784,965 (GRCm39) V201E probably damaging Het
Or2w3 A C 11: 58,556,789 (GRCm39) I135L probably benign Het
Or6c6 A G 10: 129,187,103 (GRCm39) M224V probably benign Het
Or7g17 T C 9: 18,767,945 (GRCm39) M8T probably benign Het
Or7g32 T A 9: 19,389,388 (GRCm39) I53F possibly damaging Het
Phlpp1 C T 1: 106,278,308 (GRCm39) R907W probably damaging Het
Pigg T C 5: 108,484,277 (GRCm39) V508A probably benign Het
Pkhd1l1 T G 15: 44,364,915 (GRCm39) Y685D probably damaging Het
Polr3a A T 14: 24,534,534 (GRCm39) I34N probably damaging Het
Pramel17 T C 4: 101,694,158 (GRCm39) S242G probably benign Het
Prex1 A G 2: 166,411,297 (GRCm39) V1434A probably benign Het
Ptprh T A 7: 4,601,005 (GRCm39) D124V probably damaging Het
Rbm12b1 A G 4: 12,145,507 (GRCm39) N493S probably benign Het
Rfx7 A T 9: 72,517,586 (GRCm39) probably null Het
Serpini1 A G 3: 75,520,648 (GRCm39) K82E probably benign Het
Slc27a6 T G 18: 58,742,237 (GRCm39) probably null Het
Slc35f2 G T 9: 53,724,201 (GRCm39) L358F probably damaging Het
Slc45a1 A C 4: 150,727,762 (GRCm39) I158M probably damaging Het
Slurp2 G A 15: 74,614,955 (GRCm39) P62L probably damaging Het
Sspo C T 6: 48,443,674 (GRCm39) H1949Y probably damaging Het
Tiam1 A T 16: 89,634,715 (GRCm39) V865E possibly damaging Het
Tlr4 A C 4: 66,757,857 (GRCm39) I217L probably damaging Het
Top1 C T 2: 160,554,628 (GRCm39) R460* probably null Het
Trpm3 T A 19: 22,965,418 (GRCm39) S1638T probably benign Het
Tubgcp5 C T 7: 55,473,315 (GRCm39) R798C probably benign Het
Vars1 T G 17: 35,231,703 (GRCm39) probably null Het
Xylt2 A G 11: 94,557,159 (GRCm39) Y111H probably benign Het
Zbed5 G A 5: 129,930,567 (GRCm39) G172D probably damaging Het
Zfp53 C T 17: 21,729,095 (GRCm39) T376I probably benign Het
Zfp937 G T 2: 150,081,466 (GRCm39) V499L probably benign Het
Zyx T A 6: 42,328,247 (GRCm39) L152Q 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
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
Predicted Primers PCR Primer
(F):5'- ttcctatctcaTGCACCCCACACC -3'
(R):5'- CCTTCACAGAGCTGAACAAGAGGC -3'

Sequencing Primer
(F):5'- gaactgacccacccatatcc -3'
(R):5'- AGGGTGGTTGCACAGCTTC -3'
Posted On 2013-05-23