Incidental Mutation 'IGL02955:Rad51b'
ID 365080
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rad51b
Ensembl Gene ENSMUSG00000059060
Gene Name RAD51 paralog B
Synonyms R51H2, mREC2, Rad51l1, Rad51b
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02955
Quality Score
Status
Chromosome 12
Chromosomal Location 79344056-79861464 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to T at 79371856 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Stop codon at position 190 (Q190*)
Ref Sequence ENSEMBL: ENSMUSP00000152105 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079533] [ENSMUST00000171210] [ENSMUST00000218039]
AlphaFold O35719
Predicted Effect probably null
Transcript: ENSMUST00000079533
AA Change: Q190*
SMART Domains Protein: ENSMUSP00000078490
Gene: ENSMUSG00000059060
AA Change: Q190*

DomainStartEndE-ValueType
Pfam:Rad51 61 256 3.1e-32 PFAM
Pfam:AAA_25 68 249 1.1e-15 PFAM
Pfam:KaiC 83 240 1.2e-9 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000171210
AA Change: Q190*
SMART Domains Protein: ENSMUSP00000128357
Gene: ENSMUSG00000059060
AA Change: Q190*

DomainStartEndE-ValueType
Pfam:Rad51 61 256 3e-33 PFAM
Pfam:AAA_25 68 241 2.8e-16 PFAM
Pfam:KaiC 83 241 3.6e-11 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000218039
AA Change: Q190*
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221257
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 evolutionarily conserved proteins essential for DNA repair by homologous recombination. This protein has been shown to form a stable heterodimer with the family member RAD51C, which further interacts with the other family members, such as RAD51, XRCC2, and XRCC3. Overexpression of this gene was found to cause cell cycle G1 delay and cell apoptosis, which suggested a role of this protein in sensing DNA damage. Rearrangements between this locus and high mobility group AT-hook 2 (HMGA2, GeneID 8091) have been observed in uterine leiomyomata. [provided by RefSeq, Mar 2016]
PHENOTYPE: Embryos homozygous for a knock-out allele are severely growth retarded and exhibit complete early embryonic lethality; interestingly, mutant embryos survive and develop further in a Trp53-null background. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abr T A 11: 76,309,991 (GRCm39) H840L probably damaging Het
Anks1 A G 17: 28,273,291 (GRCm39) D970G probably damaging Het
B4galnt4 A G 7: 140,644,591 (GRCm39) K162R probably null Het
Bicd2 T C 13: 49,531,691 (GRCm39) V311A probably benign Het
Cblif T C 19: 11,725,027 (GRCm39) L6P possibly damaging Het
Ccdc162 A G 10: 41,437,123 (GRCm39) L489P probably damaging Het
Cd55 G T 1: 130,377,219 (GRCm39) T38K probably damaging Het
Cep250 C A 2: 155,817,676 (GRCm39) A749E probably benign Het
Cntn3 G T 6: 102,255,262 (GRCm39) T212N probably damaging Het
Cntnap5c T A 17: 58,199,097 (GRCm39) probably benign Het
Dclre1c A G 2: 3,439,089 (GRCm39) E83G probably damaging Het
Dok4 T C 8: 95,592,256 (GRCm39) N244S probably damaging Het
Dync2h1 T C 9: 7,142,864 (GRCm39) T1151A probably benign Het
Fer G A 17: 64,298,712 (GRCm39) probably null Het
Hexb A G 13: 97,317,584 (GRCm39) probably benign Het
Ints5 T C 19: 8,875,014 (GRCm39) L991P probably damaging Het
Itga5 T C 15: 103,259,261 (GRCm39) D722G possibly damaging Het
Jup A G 11: 100,267,565 (GRCm39) I586T probably benign Het
Lig1 G A 7: 13,030,273 (GRCm39) G417R probably damaging Het
Lig4 A G 8: 10,022,103 (GRCm39) I559T possibly damaging Het
Mcm3ap A G 10: 76,343,300 (GRCm39) I1731V probably benign Het
Mfsd13a T G 19: 46,356,192 (GRCm39) V99G possibly damaging Het
Nelfcd A G 2: 174,264,391 (GRCm39) H153R probably damaging Het
Nlrp1b A G 11: 71,060,637 (GRCm39) Y724H possibly damaging Het
Npas3 C A 12: 53,548,048 (GRCm39) N101K probably damaging Het
Nuf2 A G 1: 169,334,807 (GRCm39) probably benign Het
Or10am5 T C 7: 6,517,682 (GRCm39) T249A probably damaging Het
Or11g7 C T 14: 50,691,442 (GRCm39) T311I probably damaging Het
Or5c1 A T 2: 37,222,013 (GRCm39) M85L probably benign Het
Polr3c A G 3: 96,621,628 (GRCm39) Y423H probably damaging Het
Pomgnt2 A G 9: 121,811,956 (GRCm39) L275P probably damaging Het
Ptprj T G 2: 90,298,808 (GRCm39) probably null Het
Pxdn T C 12: 30,053,156 (GRCm39) I931T probably damaging Het
Rpl10a T C 17: 28,547,967 (GRCm39) I36T probably damaging Het
Tagap1 T C 17: 7,223,781 (GRCm39) H305R probably damaging Het
Tmem154 A G 3: 84,591,508 (GRCm39) probably benign Het
Vil1 A G 1: 74,457,682 (GRCm39) E105G probably benign Het
Wdfy4 C A 14: 32,798,241 (GRCm39) C2055F probably damaging Het
Zfat T C 15: 68,052,963 (GRCm39) N277S probably damaging Het
Other mutations in Rad51b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01389:Rad51b APN 12 79,349,327 (GRCm39) missense probably benign 0.00
IGL01599:Rad51b APN 12 79,374,002 (GRCm39) missense probably benign 0.30
R1544:Rad51b UTSW 12 79,349,317 (GRCm39) missense possibly damaging 0.87
R2998:Rad51b UTSW 12 79,349,263 (GRCm39) missense probably damaging 1.00
R3784:Rad51b UTSW 12 79,347,419 (GRCm39) nonsense probably null
R4076:Rad51b UTSW 12 79,361,656 (GRCm39) missense probably damaging 1.00
R5916:Rad51b UTSW 12 79,371,856 (GRCm39) nonsense probably null
R7489:Rad51b UTSW 12 79,347,359 (GRCm39) nonsense probably null
R7765:Rad51b UTSW 12 79,850,044 (GRCm39) critical splice donor site probably null
R8160:Rad51b UTSW 12 79,350,115 (GRCm39) missense probably benign 0.00
R8206:Rad51b UTSW 12 79,361,715 (GRCm39) missense probably damaging 1.00
R8489:Rad51b UTSW 12 79,374,024 (GRCm39) missense probably benign 0.08
R8977:Rad51b UTSW 12 79,704,662 (GRCm39) missense probably damaging 1.00
R9015:Rad51b UTSW 12 79,347,417 (GRCm39) missense probably damaging 1.00
R9073:Rad51b UTSW 12 79,344,439 (GRCm39) unclassified probably benign
Posted On 2015-12-18