Incidental Mutation 'IGL01659:Rad51'
ID103108
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rad51
Ensembl Gene ENSMUSG00000027323
Gene NameRAD51 recombinase
SynonymsReca, Rad51a
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01659
Quality Score
Status
Chromosome2
Chromosomal Location119112793-119147445 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 119118702 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Lysine at position 61 (I61K)
Ref Sequence ENSEMBL: ENSMUSP00000119444 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028795] [ENSMUST00000140939] [ENSMUST00000152327]
Predicted Effect probably benign
Transcript: ENSMUST00000028795
AA Change: I61K

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000028795
Gene: ENSMUSG00000027323
AA Change: I61K

DomainStartEndE-ValueType
HhH1 58 77 1.08e0 SMART
AAA 119 306 8.27e-9 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000110828
Predicted Effect probably benign
Transcript: ENSMUST00000140939
AA Change: I61K

PolyPhen 2 Score 0.435 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000119444
Gene: ENSMUSG00000027323
AA Change: I61K

DomainStartEndE-ValueType
HhH1 58 77 2.52e-1 SMART
low complexity region 94 111 N/A INTRINSIC
Pfam:Rad51 126 178 9e-26 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141389
Predicted Effect probably benign
Transcript: ENSMUST00000152327
AA Change: I61K

PolyPhen 2 Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000119101
Gene: ENSMUSG00000027323
AA Change: I61K

DomainStartEndE-ValueType
HhH1 58 77 1.08e0 SMART
Pfam:Rad51 83 218 2.6e-71 PFAM
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 is a member of the RAD51 protein family. RAD51 family members are highly similar to bacterial RecA and Saccharomyces cerevisiae Rad51, and are known to be involved in the homologous recombination and repair of DNA. This protein can interact with the ssDNA-binding protein RPA and RAD52, and it is thought to play roles in homologous pairing and strand transfer of DNA. This protein is also found to interact with BRCA1 and BRCA2, which may be important for the cellular response to DNA damage. BRCA2 is shown to regulate both the intracellular localization and DNA-binding ability of this protein. Loss of these controls following BRCA2 inactivation may be a key event leading to genomic instability and tumorigenesis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2009]
PHENOTYPE: Homozygotes for targeted null mutations die prior to implantation, usually by the eight-cell stage. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 17 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam32 A T 8: 24,870,774 probably benign Het
Ankrd11 A G 8: 122,895,371 S581P probably damaging Het
Arl13b T C 16: 62,802,750 S370G possibly damaging Het
Cdr2 G T 7: 120,958,549 A251E probably damaging Het
Clec4a4 A T 6: 123,023,935 E202D probably damaging Het
Col14a1 T A 15: 55,446,172 probably benign Het
Dhfr A T 13: 92,355,670 probably null Het
Flnc A G 6: 29,448,671 T1303A probably damaging Het
Mug1 A T 6: 121,870,660 probably benign Het
Napepld A G 5: 21,675,716 V227A probably damaging Het
Nf1 A G 11: 79,559,449 E487G probably benign Het
Nlrp2 A G 7: 5,328,035 L454P probably damaging Het
Olfr1049 A T 2: 86,255,185 C169* probably null Het
Rfx8 A T 1: 39,670,573 H431Q probably damaging Het
Sspo A G 6: 48,474,443 N2725S probably damaging Het
Trim16 A G 11: 62,820,695 E64G probably benign Het
Zfp879 T C 11: 50,838,454 Y39C probably damaging Het
Other mutations in Rad51
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03028:Rad51 APN 2 119116314 start codon destroyed possibly damaging 0.90
R0015:Rad51 UTSW 2 119116327 missense probably benign 0.18
R0015:Rad51 UTSW 2 119116327 missense probably benign 0.18
R1723:Rad51 UTSW 2 119123814 missense probably benign 0.04
R2843:Rad51 UTSW 2 119118633 missense probably benign 0.43
R3403:Rad51 UTSW 2 119120544 intron probably benign
R4454:Rad51 UTSW 2 119131568 missense probably damaging 1.00
R4672:Rad51 UTSW 2 119123846 missense probably benign 0.22
R4878:Rad51 UTSW 2 119120492 intron probably benign
R4945:Rad51 UTSW 2 119127148 missense probably damaging 0.99
R5575:Rad51 UTSW 2 119134433 missense probably benign 0.24
R7295:Rad51 UTSW 2 119134118 missense possibly damaging 0.94
R7711:Rad51 UTSW 2 119131590 missense probably benign 0.01
Posted On2014-01-21