Incidental Mutation 'R1179:Rad54l'
ID 100214
Institutional Source Beutler Lab
Gene Symbol Rad54l
Ensembl Gene ENSMUSG00000028702
Gene Name RAD54 like (S. cerevisiae)
Synonyms RAD54
MMRRC Submission 039251-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1179 (G1)
Quality Score 180
Status Not validated
Chromosome 4
Chromosomal Location 115951461-115980887 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 115968517 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 93 (L93Q)
Ref Sequence ENSEMBL: ENSMUSP00000099766 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102704] [ENSMUST00000102705]
AlphaFold P70270
Predicted Effect probably benign
Transcript: ENSMUST00000102704
AA Change: L93Q

PolyPhen 2 Score 0.143 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000099765
Gene: ENSMUSG00000028702
AA Change: L93Q

DomainStartEndE-ValueType
DEXDc 149 357 1.66e-41 SMART
Blast:DEXDc 391 427 5e-13 BLAST
low complexity region 441 456 N/A INTRINSIC
HELICc 527 611 1.39e-20 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000102705
AA Change: L93Q

PolyPhen 2 Score 0.143 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000099766
Gene: ENSMUSG00000028702
AA Change: L93Q

DomainStartEndE-ValueType
Pfam:Rad54_N 10 138 7.8e-9 PFAM
DEXDc 149 357 1.66e-41 SMART
Blast:DEXDc 391 427 5e-13 BLAST
low complexity region 441 456 N/A INTRINSIC
HELICc 527 611 1.39e-20 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138320
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152741
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.5%
  • 10x: 93.7%
  • 20x: 84.3%
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, and shares similarity with Saccharomyces cerevisiae Rad54, a protein known to be involved in the homologous recombination and repair of DNA. This protein has been shown to play a role in homologous recombination related repair of DNA double-strand breaks. The binding of this protein to double-strand DNA induces a DNA topological change, which is thought to facilitate homologous DNA paring, and stimulate DNA recombination. Alternative splicing results in multiple transcript variants encoding the same protein.[provided by RefSeq, Dec 2008]
PHENOTYPE: Mice homozygous for a knock-out allele are sensitive to DNA crosslinking agents and to ionizing radiation and show abnormal definitive hematopoiesis following X-ray treatment. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy1 T A 11: 7,117,054 (GRCm39) probably null Het
Aknad1 T C 3: 108,659,783 (GRCm39) S266P possibly damaging Het
Gaa A T 11: 119,171,954 (GRCm39) R686W probably damaging Het
Gls2 A T 10: 128,035,103 (GRCm39) T79S probably damaging Het
Golga2 G T 2: 32,193,707 (GRCm39) R511L possibly damaging Het
Hrnr T C 3: 93,239,850 (GRCm39) S3363P unknown Het
Ift81 T C 5: 122,740,773 (GRCm39) K187R probably benign Het
Kcnj1 T A 9: 32,308,062 (GRCm39) I162N probably damaging Het
Ltbp1 A G 17: 75,532,280 (GRCm39) Q118R possibly damaging Het
Mc5r C G 18: 68,471,741 (GRCm39) probably null Het
Naga T A 15: 82,214,357 (GRCm39) N385Y probably benign Het
Naip5 T A 13: 100,356,338 (GRCm39) E1092D probably benign Het
Nrbp1 T A 5: 31,403,157 (GRCm39) I210N probably damaging Het
Nrip3 A G 7: 109,362,762 (GRCm39) V163A probably damaging Het
Or6c202 A C 10: 128,995,927 (GRCm39) S309A probably benign Het
Or8g55 T C 9: 39,785,371 (GRCm39) S267P possibly damaging Het
Pacsin3 A G 2: 91,094,205 (GRCm39) E378G probably damaging Het
Pnisr A G 4: 21,865,937 (GRCm39) T309A possibly damaging Het
Ralgps2 G T 1: 156,729,369 (GRCm39) P50Q probably damaging Het
Stab2 A G 10: 86,786,165 (GRCm39) V594A probably damaging Het
Tenm2 C T 11: 35,954,004 (GRCm39) G1236R possibly damaging Het
Tmem17 A T 11: 22,468,454 (GRCm39) N131I probably damaging Het
Trrap G A 5: 144,714,749 (GRCm39) R107H possibly damaging Het
Vmp1 T C 11: 86,498,055 (GRCm39) T287A probably damaging Het
Zfp423 T A 8: 88,414,700 (GRCm39) H1185L probably damaging Het
Zfp773 AGCTGCTGCTGCTGCTGCTGCTGCTGC AGCTGCTGCTGCTGCTGCTGCTGC 7: 7,136,092 (GRCm39) probably benign Het
Other mutations in Rad54l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01409:Rad54l APN 4 115,963,074 (GRCm39) missense probably damaging 1.00
IGL01569:Rad54l APN 4 115,956,195 (GRCm39) missense probably damaging 1.00
IGL02120:Rad54l APN 4 115,956,181 (GRCm39) missense probably benign 0.44
IGL02587:Rad54l APN 4 115,962,994 (GRCm39) missense probably damaging 1.00
IGL02728:Rad54l APN 4 115,980,146 (GRCm39) missense probably benign 0.00
IGL03114:Rad54l APN 4 115,955,729 (GRCm39) missense probably damaging 1.00
R0690:Rad54l UTSW 4 115,956,947 (GRCm39) splice site probably benign
R1956:Rad54l UTSW 4 115,967,554 (GRCm39) missense probably damaging 0.99
R2875:Rad54l UTSW 4 115,959,050 (GRCm39) missense probably benign 0.00
R2936:Rad54l UTSW 4 115,980,076 (GRCm39) intron probably benign
R4237:Rad54l UTSW 4 115,956,646 (GRCm39) missense probably damaging 1.00
R4344:Rad54l UTSW 4 115,954,551 (GRCm39) missense probably damaging 1.00
R4801:Rad54l UTSW 4 115,980,121 (GRCm39) missense probably null 0.12
R4802:Rad54l UTSW 4 115,980,121 (GRCm39) missense probably null 0.12
R5106:Rad54l UTSW 4 115,956,961 (GRCm39) intron probably benign
R5644:Rad54l UTSW 4 115,956,144 (GRCm39) missense probably benign
R5684:Rad54l UTSW 4 115,957,760 (GRCm39) missense probably damaging 1.00
R5883:Rad54l UTSW 4 115,956,243 (GRCm39) intron probably benign
R5963:Rad54l UTSW 4 115,967,584 (GRCm39) missense probably damaging 1.00
R6035:Rad54l UTSW 4 115,954,666 (GRCm39) missense probably damaging 1.00
R6035:Rad54l UTSW 4 115,954,666 (GRCm39) missense probably damaging 1.00
R6369:Rad54l UTSW 4 115,968,386 (GRCm39) critical splice donor site probably null
R6863:Rad54l UTSW 4 115,956,866 (GRCm39) missense probably damaging 1.00
R7135:Rad54l UTSW 4 115,963,027 (GRCm39) missense probably damaging 1.00
R7318:Rad54l UTSW 4 115,967,906 (GRCm39) missense possibly damaging 0.91
R7767:Rad54l UTSW 4 115,956,866 (GRCm39) missense probably damaging 1.00
R8707:Rad54l UTSW 4 115,954,533 (GRCm39) missense probably benign 0.00
R9156:Rad54l UTSW 4 115,980,349 (GRCm39) splice site probably benign
R9207:Rad54l UTSW 4 115,967,215 (GRCm39) missense probably damaging 1.00
R9274:Rad54l UTSW 4 115,967,667 (GRCm39) missense probably damaging 1.00
Predicted Primers
Posted On 2014-01-15