Incidental Mutation 'IGL03270:Rad51d'
ID 415235
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rad51d
Ensembl Gene ENSMUSG00000018841
Gene Name RAD51 paralog D
Synonyms Rad51l3, R51H3
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL03270
Quality Score
Status
Chromosome 11
Chromosomal Location 82767260-82781440 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 82772420 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000117401 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018985] [ENSMUST00000021033] [ENSMUST00000092844] [ENSMUST00000100718] [ENSMUST00000135963] [ENSMUST00000146053]
AlphaFold O55230
Predicted Effect probably benign
Transcript: ENSMUST00000018985
SMART Domains Protein: ENSMUSP00000018985
Gene: ENSMUSG00000018841

DomainStartEndE-ValueType
PDB:2KZ3|A 1 83 2e-27 PDB
AAA 99 274 1.5e-6 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000021033
SMART Domains Protein: ENSMUSP00000021033
Gene: ENSMUSG00000018841

DomainStartEndE-ValueType
low complexity region 28 40 N/A INTRINSIC
low complexity region 49 59 N/A INTRINSIC
Pfam:Rad51 64 249 3e-15 PFAM
Pfam:AAA_25 69 200 2e-12 PFAM
Pfam:KaiC 82 148 1.4e-10 PFAM
Pfam:AAA_19 93 168 6.7e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000092844
SMART Domains Protein: ENSMUSP00000090520
Gene: ENSMUSG00000018841

DomainStartEndE-ValueType
low complexity region 28 40 N/A INTRINSIC
low complexity region 49 59 N/A INTRINSIC
Pfam:Rad51 66 130 2.4e-7 PFAM
Pfam:KaiC 82 129 8e-8 PFAM
Pfam:Rad51 115 274 8.5e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000100718
SMART Domains Protein: ENSMUSP00000098284
Gene: ENSMUSG00000018841

DomainStartEndE-ValueType
PDB:2KZ3|A 1 83 5e-30 PDB
SCOP:d1b22a_ 10 48 2e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000135963
SMART Domains Protein: ENSMUSP00000122477
Gene: ENSMUSG00000018841

DomainStartEndE-ValueType
low complexity region 28 40 N/A INTRINSIC
low complexity region 49 59 N/A INTRINSIC
Pfam:Rad51 64 219 7e-18 PFAM
Pfam:AAA_25 69 226 2.6e-15 PFAM
Pfam:KaiC 82 216 5.7e-12 PFAM
Pfam:AAA_19 93 168 1.4e-7 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000146053
SMART Domains Protein: ENSMUSP00000117401
Gene: ENSMUSG00000018841

DomainStartEndE-ValueType
PDB:2KZ3|A 1 48 1e-13 PDB
SCOP:d1b22a_ 10 48 7e-5 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene belongs to the Rad51 gene family whose products play a major role in homologous recombination and DNA repair. The encoded protein interacts with other proteins of this family, including Rad51b, Rad51c and Xrcc2, and plays an essential role in both DNA repair and telomere maintenance. In humans, germline mutations in this gene may be associated with predisposition to ovarian cancer. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2013]
PHENOTYPE: Mice homozygous for disruptions in this gene die as embryos before E11.5. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ctnnd1 A T 2: 84,440,071 (GRCm39) probably null Het
Fcmr A T 1: 130,803,779 (GRCm39) R194S possibly damaging Het
Fmo2 A G 1: 162,709,595 (GRCm39) F264S probably damaging Het
Gfra2 A G 14: 71,163,344 (GRCm39) D209G possibly damaging Het
Hsd17b7 C T 1: 169,780,649 (GRCm39) E320K probably damaging Het
Iigp1c A G 18: 60,378,548 (GRCm39) K28E probably benign Het
Kifap3 T A 1: 163,676,302 (GRCm39) M419K probably benign Het
Lgr6 A C 1: 134,925,442 (GRCm39) I133S probably damaging Het
Med13l A C 5: 118,869,495 (GRCm39) N811T probably damaging Het
Or4c118 A G 2: 88,975,089 (GRCm39) F93L probably damaging Het
Or6k2 T A 1: 173,987,119 (GRCm39) M260K probably benign Het
Pappa2 T A 1: 158,592,637 (GRCm39) D1580V possibly damaging Het
Ppp4r2 T G 6: 100,840,086 (GRCm39) N72K probably damaging Het
Prr27 T C 5: 87,983,537 (GRCm39) probably benign Het
Rel T C 11: 23,692,584 (GRCm39) N483S probably benign Het
Scn9a A G 2: 66,314,358 (GRCm39) F1776L probably damaging Het
Slco5a1 G A 1: 12,942,252 (GRCm39) T798I probably benign Het
Ttn T C 2: 76,606,811 (GRCm39) D18033G probably damaging Het
Vmn1r46 T A 6: 89,953,756 (GRCm39) S202T probably damaging Het
Vmn2r110 T G 17: 20,803,778 (GRCm39) M266L probably benign Het
Vmn2r26 A T 6: 124,027,778 (GRCm39) D506V probably benign Het
Zbtb1 T C 12: 76,432,289 (GRCm39) S92P possibly damaging Het
Other mutations in Rad51d
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00088:Rad51d APN 11 82,780,572 (GRCm39) missense probably damaging 1.00
IGL02755:Rad51d APN 11 82,772,458 (GRCm39) missense probably benign 0.05
spew UTSW 11 82,770,159 (GRCm39) missense probably damaging 0.99
R0179:Rad51d UTSW 11 82,780,824 (GRCm39) missense possibly damaging 0.90
R1440:Rad51d UTSW 11 82,781,179 (GRCm39) nonsense probably null
R1771:Rad51d UTSW 11 82,774,764 (GRCm39) missense probably damaging 1.00
R2106:Rad51d UTSW 11 82,770,134 (GRCm39) missense probably damaging 1.00
R2340:Rad51d UTSW 11 82,772,647 (GRCm39) missense probably damaging 1.00
R5396:Rad51d UTSW 11 82,781,196 (GRCm39) missense possibly damaging 0.90
R6917:Rad51d UTSW 11 82,770,159 (GRCm39) missense probably damaging 0.99
R6941:Rad51d UTSW 11 82,780,623 (GRCm39) missense probably damaging 0.99
R8063:Rad51d UTSW 11 82,780,597 (GRCm39) missense probably benign 0.04
R8910:Rad51d UTSW 11 82,773,793 (GRCm39) missense probably damaging 0.97
R8923:Rad51d UTSW 11 82,773,798 (GRCm39) missense probably damaging 1.00
R9723:Rad51d UTSW 11 82,781,162 (GRCm39) critical splice donor site probably null
Posted On 2016-08-02